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TTN titin [ Homo sapiens (human) ]

Gene ID: 7273, updated on 19-Jul-2014
Official Symbol
TTNprovided by HGNC
Official Full Name
titinprovided by HGNC
Primary source
HGNC:12403
See related
Ensembl:ENSG00000155657; HPRD:01787; MIM:188840; Vega:OTTHUMG00000154448
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMD; CMH9; CMD1G; CMPD4; EOMFC; HMERF; MYLK5; LGMD2J
Summary
This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
Location:
2q31
Exon count:
364
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (178525989..178807423, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179390716..179672150, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 Neighboring gene FK506 binding protein 7 Neighboring gene TTN antisense RNA 1 Neighboring gene uncharacterized LOC102724244 Neighboring gene uncharacterized LOC101927055 Neighboring gene coiled-coil domain containing 141 Neighboring gene ribosomal protein S6 pseudogene 2 Neighboring gene SEC14 and spectrin domains 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Dilated cardiomyopathy 1G Compare labs
Distal myopathy Markesbery-Griggs type
MedGen: C1838244 OMIM: 600334 GeneReviews: Udd Distal Myopathy
Compare labs
Familial hypertrophic cardiomyopathy 9
MedGen: C1861065 OMIM: 613765 GeneReviews: Not available
Compare labs
Hereditary myopathy with early respiratory failure
MedGen: C1863599 OMIM: 603689 GeneReviews: Not available
Compare labs
Limb-girdle muscular dystrophy, type 2J
MedGen: C1837342 OMIM: 608807 GeneReviews: Not available
Compare labs
Myopathy, early-onset, with fatal cardiomyopathy
MedGen: C2673677 OMIM: 611705 GeneReviews: Salih Myopathy
Compare labs
Primary dilated cardiomyopathy Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
NHGRI GWA Catalog
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ26020, FLJ26409, FLJ32040, FLJ34413, FLJ39564, FLJ43066, DKFZp451N061

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
actinin binding IDA
Inferred from Direct Assay
more info
PubMed 
actinin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calmodulin binding TAS
Traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
 
muscle alpha-actinin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
 
protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
structural constituent of muscle IMP
Inferred from Mutant Phenotype
more info
PubMed 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
structural molecule activity conferring elasticity TAS
Traceable Author Statement
more info
 
telethonin binding IPI
Inferred from Physical Interaction
more info
PubMed 
telethonin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
adult heart development IEA
Inferred from Electronic Annotation
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle fiber development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle hypertrophy IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac myofibril assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
detection of muscle stretch TAS
Traceable Author Statement
more info
PubMed 
forward locomotion IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
mitotic chromosome condensation IEP
Inferred from Expression Pattern
more info
PubMed 
muscle contraction NAS
Non-traceable Author Statement
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
regulation of catalytic activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
sarcomerogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle myosin thick filament assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle thin filament assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
striated muscle contraction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
I band IDA
Inferred from Direct Assay
more info
PubMed 
M band IDA
Inferred from Direct Assay
more info
PubMed 
M band IEA
Inferred from Electronic Annotation
more info
 
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
striated muscle thin filament IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
titin
Names
titin
connectin
rhabdomyosarcoma antigen MU-RMS-40.14
NP_001243779.1
NP_001254479.1
NP_003310.4
NP_596869.4
NP_596870.2
NP_597676.3
NP_597681.3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011618.3 

    Range
    28380..309814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_391

mRNA and Protein(s)

  1. NM_001256850.1NP_001243779.1  titin isoform N2BA

    See proteins identical to NP_001243779.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (N2BA) encodes another major cardiac isoform (N2BA). It includes the N2A and N2B exons, and also the PEVK region. This variant is supported by annotation on DNA accession AJ277892.2 and by accompanying data in PMIDs 10850961 and 11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199
    UniProtKB/Swiss-Prot
    Q8WZ42
    Related
    ENSP00000465570, OTTHUMP00000268795, ENST00000591111, OTTHUMT00000460310
    Conserved Domains (15) summary
    cd00096
    Location:46824751
    Blast Score: 170
    Ig; Immunoglobulin domain
    cd05747
    Location:3348533576
    Blast Score: 497
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:2172021791
    Blast Score: 281
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    pfam09042
    Location:464505
    Blast Score: 169
    Titin_Z; Titin Z
    cd00180
    Location:3218432430
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:2850428569
    Blast Score: 128
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:3217832432
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2416424244
    Blast Score: 150
    IG; Immunoglobulin
    smart00410
    Location:2820728289
    Blast Score: 167
    IG_like; Immunoglobulin like
    cd00063
    Location:2582925921
    Blast Score: 249
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam02818
    Location:1095510982
    Blast Score: 141
    PPAK; PPAK motif
    pfam05104
    Location:1012110298
    Blast Score: 136
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam07679
    Location:88888977
    Blast Score: 281
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:3330433390
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:2456924642
    Blast Score: 203
    Ig; Immunoglobulin domain
  2. NM_001267550.2NP_001254479.2  titin isoform IC

    Status: REVIEWED

    Description
    Transcript Variant: This variant (IC) represents an inferred complete model that includes all possible supported in-frame coding exons. The exons included in this inferred variant are supported by the original sequence analysis, publication data(PMID:11717165), available cDNA and EST data, and additional sequence analysis of the repetitive exons. This transcript is the longest and represents a 363-exon model encoding a predicted protein (isoform IC) of 35,991 amino acids.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199, KF459616
    Consensus CDS
    CCDS59435.1
    Related
    ENSP00000467141, OTTHUMP00000263894, ENST00000589042, OTTHUMT00000450680
    Conserved Domains (15) summary
    cd00096
    Location:49995068
    Blast Score: 170
    Ig; Immunoglobulin domain
    cd05747
    Location:3512635217
    Blast Score: 496
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:2256722640
    Blast Score: 280
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    pfam09042
    Location:464505
    Blast Score: 166
    Titin_Z; Titin Z
    cd00180
    Location:3382534071
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:3014530210
    Blast Score: 128
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:3381934073
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2984829930
    Blast Score: 168
    IG; Immunoglobulin
    smart00410
    Location:2688826969
    Blast Score: 153
    IG_like; Immunoglobulin like
    cd00063
    Location:2747027562
    Blast Score: 248
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam02818
    Location:1127211299
    Blast Score: 137
    PPAK; PPAK motif
    pfam05104
    Location:1043810615
    Blast Score: 130
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam07679
    Location:92059294
    Blast Score: 280
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:3494535031
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:2621026283
    Blast Score: 202
    Ig; Immunoglobulin domain
  3. NM_003319.4NP_003310.4  titin isoform N2-B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (N2-B) encodes the major cardiac muscle isoform (N2-B). It lacks multiple exons in the region encoding PEVK repeats. This results in a shortened PEVK region in isoform N2-B compared to isoform IC. This variant is supported by data in PMIDs 10850961 and 11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199
    Consensus CDS
    CCDS54421.1
    UniProtKB/Swiss-Prot
    Q8WZ42
    Related
    ENSP00000434586, OTTHUMP00000233810, ENST00000460472, OTTHUMT00000335575
    Conserved Domains (13) summary
    cd00096
    Location:914981
    Blast Score: 163
    Ig; Immunoglobulin domain
    cd05747
    Location:2606126152
    Blast Score: 498
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1429614367
    Blast Score: 281
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    pfam09042
    Location:464505
    Blast Score: 170
    Titin_Z; Titin Z
    cd00180
    Location:2476025006
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:2108021145
    Blast Score: 128
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:2475425008
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:1782317904
    Blast Score: 153
    IG; Immunoglobulin
    smart00410
    Location:2078320865
    Blast Score: 167
    IG_like; Immunoglobulin like
    cd00063
    Location:1840518497
    Blast Score: 249
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:697
    Blast Score: 273
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:2588025966
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:1714517218
    Blast Score: 203
    Ig; Immunoglobulin domain
  4. NM_133378.4NP_596869.4  titin isoform N2-A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (N2-A) encodes isoform N2-A, which is the predominant titin isoform in skeletal muscle. This variant lacks the N2B region but includes the PEVK region. This variant is supported by data in PMIDs 7569978, 10850961 and 11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199
    Consensus CDS
    CCDS54424.1
    UniProtKB/Swiss-Prot
    Q8WZ42
    Related
    ENSP00000343764, OTTHUMP00000233809, ENST00000342992, OTTHUMT00000335574
    Conserved Domains (15) summary
    cd00096
    Location:37553824
    Blast Score: 170
    Ig; Immunoglobulin domain
    cd05747
    Location:3255832649
    Blast Score: 497
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1999920072
    Blast Score: 281
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    pfam09042
    Location:464505
    Blast Score: 169
    Titin_Z; Titin Z
    cd00180
    Location:3125731503
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:2757727642
    Blast Score: 128
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:3125131505
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2728027362
    Blast Score: 167
    IG; Immunoglobulin
    smart00410
    Location:2432024401
    Blast Score: 153
    IG_like; Immunoglobulin like
    cd00063
    Location:2490224994
    Blast Score: 249
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam02818
    Location:1002810055
    Blast Score: 141
    PPAK; PPAK motif
    pfam05104
    Location:91949371
    Blast Score: 136
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam07679
    Location:79618050
    Blast Score: 280
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:3237732463
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:2364223715
    Blast Score: 203
    Ig; Immunoglobulin domain
  5. NM_133379.4NP_596870.2  titin isoform novex-3

    See proteins identical to NP_596870.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (novex-3) is the shortest transcript and encodes the shortest isoform (novex-3). Its last exon is nearly 8 kb and is not found in the other variants. The novex-3 isoform, which is found in all striated muscle, lacks the PEVK region and has a C-terminal truncation compared to longer isoforms. This variant is supported by data in PMID:11717165.
    Source sequence(s)
    AC023270, BX537998
    Consensus CDS
    CCDS33337.1
    UniProtKB/TrEMBL
    Q7Z3B7
    UniProtKB/Swiss-Prot
    Q8WZ42
    Related
    ENSP00000354117, OTTHUMP00000205904, ENST00000360870, OTTHUMT00000335713
    Conserved Domains (5) summary
    cd00096
    Location:9601027
    Blast Score: 166
    Ig; Immunoglobulin domain
    pfam09042
    Location:464505
    Blast Score: 160
    Titin_Z; Titin Z
    smart00410
    Location:31543233
    Blast Score: 94
    IG_like; Immunoglobulin like
    pfam07679
    Location:697
    Blast Score: 274
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:2697
    Blast Score: 167
    Ig; Immunoglobulin domain
  6. NM_133432.3NP_597676.3  titin isoform novex-1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (novex-1) encodes the minor cardiac muscle isoform (novex-1 or novex-1/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 125 aa in the I-band region. This variant is supported by data in PMID:11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199
    Consensus CDS
    CCDS54423.1
    UniProtKB/Swiss-Prot
    Q8WZ42
    Related
    ENSP00000352154, ENST00000359218
    Conserved Domains (13) summary
    cd00096
    Location:914981
    Blast Score: 163
    Ig; Immunoglobulin domain
    cd05747
    Location:2618626277
    Blast Score: 498
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1442114492
    Blast Score: 281
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    pfam09042
    Location:464505
    Blast Score: 170
    Titin_Z; Titin Z
    cd00180
    Location:2488525131
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:2120521270
    Blast Score: 128
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:2487925133
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2090820990
    Blast Score: 167
    IG; Immunoglobulin
    smart00410
    Location:1293313013
    Blast Score: 167
    IG_like; Immunoglobulin like
    cd00063
    Location:1853018622
    Blast Score: 249
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:697
    Blast Score: 273
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:2600526091
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:1727017343
    Blast Score: 203
    Ig; Immunoglobulin domain
  7. NM_133437.4NP_597681.4  titin isoform novex-2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (novex-2) encodes the minor cardiac and skeletal muscle isoform (novex-2 or novex-2/N2B), which is nearly identical to the major cardiac isoform N2-B but contains a unique stretch of 192 aa in the I-band region. This variant is supported by data in PMID:11717165.
    Source sequence(s)
    AC009948, AC010680, AC023270, FJ695199, KF459616
    Consensus CDS
    CCDS54422.1
    Related
    ENSP00000340554, ENST00000342175
    Conserved Domains (13) summary
    cd00096
    Location:914981
    Blast Score: 163
    Ig; Immunoglobulin domain
    cd05747
    Location:2625326344
    Blast Score: 498
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1448814559
    Blast Score: 281
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    pfam09042
    Location:464505
    Blast Score: 170
    Titin_Z; Titin Z
    cd00180
    Location:2495225198
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:2127221337
    Blast Score: 128
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:2494625200
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:1368713767
    Blast Score: 148
    IG; Immunoglobulin
    smart00410
    Location:2097521057
    Blast Score: 167
    IG_like; Immunoglobulin like
    cd00063
    Location:1859718689
    Blast Score: 249
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:697
    Blast Score: 273
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:2607226158
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:1733717410
    Blast Score: 203
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    178525989..178807423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712724.1XP_006712787.1  

    Conserved Domains (15) summary
    cd00096
    Location:46834752
    Blast Score: 170
    Ig; Immunoglobulin domain
    cd05747
    Location:3311333204
    Blast Score: 497
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:2134821419
    Blast Score: 281
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    pfam09042
    Location:465506
    Blast Score: 161
    Titin_Z; Titin Z
    cd00180
    Location:3181232058
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:2813228197
    Blast Score: 128
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:3180632060
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2783527917
    Blast Score: 167
    IG; Immunoglobulin
    smart00410
    Location:1807318155
    Blast Score: 157
    IG_like; Immunoglobulin like
    cd00063
    Location:2545725549
    Blast Score: 249
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam02818
    Location:1095610983
    Blast Score: 142
    PPAK; PPAK motif
    pfam05104
    Location:1012210299
    Blast Score: 137
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam07679
    Location:88898978
    Blast Score: 281
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:3293233018
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:2419724270
    Blast Score: 203
    Ig; Immunoglobulin domain
  2. XM_006712723.1XP_006712786.1  

    Conserved Domains (15) summary
    cd00096
    Location:46834752
    Blast Score: 170
    Ig; Immunoglobulin domain
    cd05747
    Location:3461934710
    Blast Score: 496
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:2206022133
    Blast Score: 280
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    pfam09042
    Location:465506
    Blast Score: 158
    Titin_Z; Titin Z
    cd00180
    Location:3331833564
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:2963829703
    Blast Score: 128
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:3331233566
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:2136621446
    Blast Score: 167
    IG; Immunoglobulin
    smart00410
    Location:2934129423
    Blast Score: 168
    IG_like; Immunoglobulin like
    cd00063
    Location:2696327055
    Blast Score: 248
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam02818
    Location:1095610983
    Blast Score: 138
    PPAK; PPAK motif
    pfam05104
    Location:1012210299
    Blast Score: 130
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam07679
    Location:88898978
    Blast Score: 280
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:3443834524
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:2570325776
    Blast Score: 202
    Ig; Immunoglobulin domain
  3. XM_006712725.1XP_006712788.1  

    Conserved Domains (13) summary
    cd00096
    Location:2114921216
    Blast Score: 153
    Ig; Immunoglobulin domain
    cd05747
    Location:2315723248
    Blast Score: 499
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1059810671
    Blast Score: 279
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    cd00180
    Location:2185622102
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:1817618241
    Blast Score: 128
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:2185022104
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:1787917961
    Blast Score: 167
    IG; Immunoglobulin
    smart00410
    Location:67256812
    Blast Score: 148
    IG_like; Immunoglobulin like
    cd00063
    Location:1550115593
    Blast Score: 246
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam02818
    Location:11821209
    Blast Score: 126
    PPAK; PPAK motif
    pfam07679
    Location:2316123249
    Blast Score: 272
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:2297623062
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:1424114314
    Blast Score: 202
    Ig; Immunoglobulin domain
  4. XM_005246831.1XP_005246888.1  

    Conserved Domains (13) summary
    cd00096
    Location:1979019857
    Blast Score: 152
    Ig; Immunoglobulin domain
    cd05747
    Location:2179821889
    Blast Score: 500
    Ig5_Titin_like; M5, fifth immunoglobulin (Ig)-like domain of human titin C terminus and similar proteins
    cd05748
    Location:1003310104
    Blast Score: 280
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    cd00180
    Location:2049720743
    Blast Score: 419
    PKc; Catalytic domain of Protein Kinases
    smart00408
    Location:1681716882
    Blast Score: 127
    IGc2; Immunoglobulin C-2 Type
    smart00220
    Location:2049120745
    Blast Score: 654
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:1652016602
    Blast Score: 167
    IG; Immunoglobulin
    smart00410
    Location:92329312
    Blast Score: 148
    IG_like; Immunoglobulin like
    cd00063
    Location:1414214234
    Blast Score: 248
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam02818
    Location:2047
    Blast Score: 114
    PPAK; PPAK motif
    pfam07679
    Location:2180221890
    Blast Score: 273
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:2161721703
    Blast Score: 105
    Ig_2; Immunoglobulin domain
    cl11960
    Location:1288212955
    Blast Score: 202
    Ig; Immunoglobulin domain

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    171261156..171540118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    179396760..179678208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)