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CTTNBP2 cortactin binding protein 2 [ Homo sapiens (human) ]

Gene ID: 83992, updated on 23-Nov-2021

Summary

Official Symbol
CTTNBP2provided by HGNC
Official Full Name
cortactin binding protein 2provided by HGNC
Primary source
HGNC:HGNC:15679
See related
Ensembl:ENSG00000077063 MIM:609772
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
Orf4; C7orf8; CORTBP2
Summary
This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 5.1), esophagus (RPKM 3.1) and 19 other tissues See more
Orthologs
NEW
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Try the new Transcript table

Genomic context

See CTTNBP2 in Genome Data Viewer
Location:
7q31.31
Exon count:
29
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (117710648..117873818, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117350705..117513495, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CFTR +21.5 kb DNase I hypersensitive site Neighboring gene CFTR +36.6 kb downstream enhancer Neighboring gene greater CFTR locus negative regulatory element NR11 Neighboring gene CTTNBP2 intron enhancer-blocking element 7-1-1 Neighboring gene uncharacterized LOC105375469 Neighboring gene greater CFTR locus negative regulatory element NR12 Neighboring gene DNase I hypersensitive site 83.7 kb downstream of CFTR Neighboring gene greater CFTR locus negative regulatory element CR27 Neighboring gene greater CFTR locus negative regulatory element NR13 Neighboring gene greater CFTR locus negative regulatory element CR28 Neighboring gene greater CFTR locus negative regulatory element NR14 Neighboring gene greater CFTR locus negative regulatory element NR19 Neighboring gene uncharacterized LOC105375470

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34229, KIAA1758, MGC104579

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of modification of postsynaptic actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
 
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cortactin-binding protein 2
Names
CORTBP2, C7orf8

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_050685.1 RefSeqGene

    Range
    5001..167857
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363349.1NP_001350278.1  cortactin-binding protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC004240, AC007568
    Conserved Domains (6) summary
    COG0666
    Location:777919
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:720845
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:758789
    ANK; ANK repeat [structural motif]
    pfam09727
    Location:18162
    CortBP2; Cortactin-binding protein-2
    cl25732
    Location:109253
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26464
    Location:333700
    Atrophin-1; Atrophin-1 family
  2. NM_001363350.1NP_001350279.1  cortactin-binding protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC004240, AF377960, BC019644, DB085853
    Conserved Domains (3) summary
    COG0666
    Location:96238
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:39164
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:77108
    ANK; ANK repeat [structural motif]
  3. NM_001363351.1NP_001350280.1  cortactin-binding protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC004240, AF377960, BC019644, CN255418
    Related
    ENSP00000389576.1, ENST00000446636.5
    Conserved Domains (3) summary
    COG0666
    Location:96238
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:39164
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:77108
    ANK; ANK repeat [structural motif]
  4. NM_033427.3NP_219499.1  cortactin-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_219499.1

    Status: REVIEWED

    Source sequence(s)
    AC004240, AC007568
    Consensus CDS
    CCDS5774.1
    UniProtKB/Swiss-Prot
    Q8WZ74
    UniProtKB/TrEMBL
    Q20BG9
    Related
    ENSP00000160373.3, ENST00000160373.8
    Conserved Domains (8) summary
    cd00204
    Location:738863
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14686
    Location:119168
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    pfam09727
    Location:36180
    CortBP2; Cortactin-binding protein-2
    pfam12796
    Location:748839
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:712764
    Ank_4; Ankyrin repeats (many copies)
    pfam16789
    Location:111270
    YscO-like; YscO-like protein
    sd00045
    Location:776807
    ANK; ANK repeat [structural motif]
    cl23720
    Location:146263
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    117710648..117873818 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446965.1XP_024302733.1  cortactin-binding protein 2 isoform X3

    Conserved Domains (6) summary
    COG0666
    Location:753895
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:696821
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:734765
    ANK; ANK repeat [structural motif]
    pfam09727
    Location:1138
    CortBP2; Cortactin-binding protein-2
    cl25732
    Location:69229
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26464
    Location:309676
    Atrophin-1; Atrophin-1 family
  2. XM_024446964.1XP_024302732.1  cortactin-binding protein 2 isoform X3

    Conserved Domains (6) summary
    COG0666
    Location:753895
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:696821
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:734765
    ANK; ANK repeat [structural motif]
    pfam09727
    Location:1138
    CortBP2; Cortactin-binding protein-2
    cl25732
    Location:69229
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26464
    Location:309676
    Atrophin-1; Atrophin-1 family
  3. XM_024446963.1XP_024302731.1  cortactin-binding protein 2 isoform X3

    Conserved Domains (6) summary
    COG0666
    Location:753895
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:696821
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:734765
    ANK; ANK repeat [structural motif]
    pfam09727
    Location:1138
    CortBP2; Cortactin-binding protein-2
    cl25732
    Location:69229
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26464
    Location:309676
    Atrophin-1; Atrophin-1 family
  4. XM_011516615.3XP_011514917.1  cortactin-binding protein 2 isoform X2

    Conserved Domains (8) summary
    cd00204
    Location:720845
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14686
    Location:101150
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    pfam09727
    Location:18162
    CortBP2; Cortactin-binding protein-2
    pfam12796
    Location:730821
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:694746
    Ank_4; Ankyrin repeats (many copies)
    pfam16789
    Location:93252
    YscO-like; YscO-like protein
    sd00045
    Location:758789
    ANK; ANK repeat [structural motif]
    cl23720
    Location:128245
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  5. XM_017012708.2XP_016868197.1  cortactin-binding protein 2 isoform X6

    Conserved Domains (3) summary
    COG0666
    Location:96238
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00204
    Location:39164
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:77108
    ANK; ANK repeat [structural motif]
  6. XM_017012706.2XP_016868195.1  cortactin-binding protein 2 isoform X4

  7. XM_017012707.2XP_016868196.1  cortactin-binding protein 2 isoform X5

  8. XM_011516618.3XP_011514920.1  cortactin-binding protein 2 isoform X7

    Conserved Domains (8) summary
    cd00204
    Location:738863
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14686
    Location:119168
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    pfam09727
    Location:36180
    CortBP2; Cortactin-binding protein-2
    pfam12796
    Location:748839
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:712764
    Ank_4; Ankyrin repeats (many copies)
    pfam16789
    Location:111270
    YscO-like; YscO-like protein
    sd00045
    Location:776807
    ANK; ANK repeat [structural motif]
    cl23720
    Location:146263
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RNA

  1. XR_001744883.2 RNA Sequence

    Related
    ENST00000441556.5
  2. XR_002956493.1 RNA Sequence

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