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CNTN5 contactin 5 [ Homo sapiens (human) ]

Gene ID: 53942, updated on 26-May-2016
Official Symbol
CNTN5provided by HGNC
Official Full Name
contactin 5provided by HGNC
Primary source
HGNC:HGNC:2175
See related
Ensembl:ENSG00000149972 HPRD:06241; MIM:607219; Vega:OTTHUMG00000167579
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
NB-2; HNB-2s
Summary
The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Orthologs
Location:
11q22.1
Exon count:
26
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (99020976..100358885)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (98891706..100229616)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369455 Neighboring gene zinc finger protein 614 pseudogene Neighboring gene uncharacterized LOC105369456 Neighboring gene replication protein A2 pseudogene 3 Neighboring gene uncharacterized LOC100128386 Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene Rho GTPase activating protein 42

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.
NHGRI GWA Catalog
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
NHGRI GWA Catalog
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Markers

Homology

Clone Names

  • MGC163491

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
contactin-5
Names
neural adhesion molecule
neural recognition molecule NB-2

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_047156.1 RefSeqGene

    Range
    5001..1342910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243270.1NP_001230199.1  contactin-5 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001230199.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' non-coding region, thus has a shorter 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AB013802, AK308788, AP001892, BC130619, BM697855, BU737133, BX090703, R26700
    Consensus CDS
    CCDS53696.1
    UniProtKB/Swiss-Prot
    O94779
    Related
    ENSP00000436185, OTTHUMP00000236286, ENST00000528682, OTTHUMT00000395253
    Conserved Domains (7) summary
    cd04969
    Location:496568
    Ig5_Contactin_like; Fifth Ig domain of contactin
    cd05848
    Location:98191
    Ig1_Contactin-5; First Ig domain of contactin-5
    smart00408
    Location:315376
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:205278
    IG_like; Immunoglobulin like
    cd00063
    Location:671768
    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:489568
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:300387
    Ig; Immunoglobulin domain
  2. NM_001243271.1NP_001230200.1  contactin-5 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs at the 3' end compared to variant 1. This results in a frame-shift, and a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK308788, BC039255
    Consensus CDS
    CCDS58168.1
    UniProtKB/Swiss-Prot
    O94779
    Related
    ENSP00000433575, OTTHUMP00000236212, ENST00000527185, OTTHUMT00000395147
    Conserved Domains (6) summary
    cd05848
    Location:98191
    Ig1_Contactin-5; First Ig domain of contactin-5
    smart00408
    Location:315376
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:205278
    IG_like; Immunoglobulin like
    cd00063
    Location:671768
    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:489568
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:300387
    Ig; Immunoglobulin domain
  3. NM_014361.3NP_055176.1  contactin-5 isoform 1 precursor

    See identical proteins and their annotated locations for NP_055176.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1, also known as long isoform). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AB013802, AK308788, AP001892, BC130619, BM697855, BU737133, BX090703, R26700
    Consensus CDS
    CCDS53696.1
    UniProtKB/Swiss-Prot
    O94779
    Related
    ENSP00000435637, OTTHUMP00000236213, ENST00000524871, OTTHUMT00000395148
    Conserved Domains (7) summary
    cd04969
    Location:496568
    Ig5_Contactin_like; Fifth Ig domain of contactin
    cd05848
    Location:98191
    Ig1_Contactin-5; First Ig domain of contactin-5
    smart00408
    Location:315376
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:205278
    IG_like; Immunoglobulin like
    cd00063
    Location:671768
    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:489568
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:300387
    Ig; Immunoglobulin domain
  4. NM_175566.2NP_780775.1  contactin-5 isoform 2 precursor

    See identical proteins and their annotated locations for NP_780775.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2, also known as short isoform) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AB013803, AP001892, BM697855, BU737133, BX090703, R26700
    Consensus CDS
    CCDS53697.1
    UniProtKB/Swiss-Prot
    O94779
    Related
    ENSP00000393229, OTTHUMP00000236214, ENST00000418526, OTTHUMT00000395149
    Conserved Domains (7) summary
    cd04969
    Location:422494
    Ig5_Contactin_like; Fifth Ig domain of contactin
    cd05848
    Location:24117
    Ig1_Contactin-5; First Ig domain of contactin-5
    smart00408
    Location:241302
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:131204
    IG_like; Immunoglobulin like
    cd00063
    Location:597694
    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:415494
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:226313
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    99020976..100358885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542871.1XP_011541173.1  

    See identical proteins and their annotated locations for XP_011541173.1

    UniProtKB/Swiss-Prot
    O94779
    Conserved Domains (7) summary
    cd04969
    Location:422494
    Ig5_Contactin_like; Fifth Ig domain of contactin
    cd05848
    Location:24117
    Ig1_Contactin-5; First Ig domain of contactin-5
    smart00408
    Location:241302
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:131204
    IG_like; Immunoglobulin like
    cd00063
    Location:597694
    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:415494
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:226313
    Ig; Immunoglobulin domain
  2. XM_011542872.1XP_011541174.1  

    Conserved Domains (7) summary
    cd04969
    Location:496568
    Ig5_Contactin_like; Fifth Ig domain of contactin
    cd05848
    Location:98191
    Ig1_Contactin-5; First Ig domain of contactin-5
    smart00408
    Location:315376
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:205278
    IG_like; Immunoglobulin like
    cd00063
    Location:671768
    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:489568
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:300387
    Ig; Immunoglobulin domain
  3. XM_011542873.1XP_011541175.1  

    Conserved Domains (6) summary
    cd04969
    Location:496568
    Ig5_Contactin_like; Fifth Ig domain of contactin
    cd05848
    Location:98191
    Ig1_Contactin-5; First Ig domain of contactin-5
    smart00408
    Location:315376
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:205278
    IG_like; Immunoglobulin like
    pfam07679
    Location:489568
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:300387
    Ig; Immunoglobulin domain

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    98775013..100112923
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)