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    CNTNAP3B contactin associated protein family member 3B [ Homo sapiens (human) ]

    Gene ID: 728577, updated on 17-Jun-2024

    Summary

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    Official Symbol
    CNTNAP3Bprovided by HGNC
    Official Full Name
    contactin associated protein family member 3Bprovided by HGNC
    Primary source
    HGNC:HGNC:32035
    See related
    Ensembl:ENSG00000154529 AllianceGenome:HGNC:32035
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be involved in cell adhesion. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in esophagus (RPKM 5.1), fat (RPKM 3.4) and 22 other tissues See more
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    Genomic context

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    See CNTNAP3B in Genome Data Viewer
    Location:
    9p11.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (41890536..42129426, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (43440970..43679972, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (47296077..47314323, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902163 Neighboring gene NANOG hESC enhancer GRCh37_chr9:47195462-47196044 Neighboring gene MPRA-validated peak7248 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:40108296-40108796 Neighboring gene vomeronasal 2 receptor 6 pseudogene Neighboring gene NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene Neighboring gene RNA binding motif protein 17 pseudogene 3 Neighboring gene RNA, 7SL, cytoplasmic 343, pseudogene Neighboring gene ubiquitin specific peptidase 12 pseudogene Neighboring gene SPATA31 subfamily A member 6 Neighboring gene 6-pyruvoyltetrahydropterin synthase pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. Boyadjiev SA, et al. Genomics, 2005 May. PMID 15820314
    2. TGFβ attenuates cartilage extracellular matrix degradation via enhancing FBXO6-mediated MMP14 ubiquitination. Wang G, et al. Ann Rheum Dis, 2020 Aug. PMID 32409323, Free PMC Article
    3. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    4. Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Stukalov A, et al. Nature, 2021 Jun. PMID 33845483
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37512, DKFZp686I15204

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    contactin-associated protein-like 3B
    Names
    cell recognition molecule Caspr3b
    contactin associated protein like 3B

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001201380.3 → NP_001188309.2  contactin-associated protein-like 3B precursor

      Status: VALIDATED

      Source sequence(s)
      AL953854, BX649569, CR788268
      Consensus CDS
      CCDS75836.1
      UniProtKB/Swiss-Prot
      A0A087WUH3, B1B0V7, B1B0V8, B1B0V9, B1B0W0, B1B0X8, B1B162, Q4VXF0, Q96NU0, Q9H7W3
      UniProtKB/TrEMBL
      A0A087X119
      Related
      ENSP00000478671.2, ENST00000377561.7
      Conserved Domains (5) summary
      cd00057
      Location:54 → 176
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cd00110
      Location:794 → 938
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam00008
      Location:551 → 582
      EGF; EGF-like domain
      cl00085
      Location:590 → 635
      FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
      pfam02210
      Location:212 → 341
      Laminin_G_2; Laminin G domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      41890536..42129426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      43440970..43679972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363732.1 → XP_054219707.1  contactin-associated protein-like 3B isoform X11

      UniProtKB/TrEMBL
      A0A087X119

    2. XM_054363730.1 → XP_054219705.1  contactin-associated protein-like 3B isoform X9

      UniProtKB/TrEMBL
      A0A087X119

    3. XM_054363729.1 → XP_054219704.1  contactin-associated protein-like 3B isoform X8

      UniProtKB/TrEMBL
      A0A087X119

    4. XM_054363741.1 → XP_054219716.1  contactin-associated protein-like 3B isoform X20

      UniProtKB/TrEMBL
      A0A087X119

    5. XM_054363721.1 → XP_054219696.1  contactin-associated protein-like 3B isoform X1

      UniProtKB/TrEMBL
      A0A087X119

    6. XM_054363726.1 → XP_054219701.1  contactin-associated protein-like 3B isoform X6

      UniProtKB/TrEMBL
      A0A087X119

    7. XM_054363725.1 → XP_054219700.1  contactin-associated protein-like 3B isoform X5

      UniProtKB/TrEMBL
      A0A087X119

    8. XM_054363724.1 → XP_054219699.1  contactin-associated protein-like 3B isoform X4

      UniProtKB/TrEMBL
      A0A087X119

    9. XM_054363722.1 → XP_054219697.1  contactin-associated protein-like 3B isoform X2

      UniProtKB/TrEMBL
      A0A087X119

    10. XM_054363723.1 → XP_054219698.1  contactin-associated protein-like 3B isoform X3

      UniProtKB/TrEMBL
      A0A087X119

    11. XM_054363731.1 → XP_054219706.1  contactin-associated protein-like 3B isoform X10

      UniProtKB/TrEMBL
      A0A087WZ03

    12. XM_054363727.1 → XP_054219702.1  contactin-associated protein-like 3B isoform X7

      UniProtKB/TrEMBL
      B1AMA2

    13. XM_054363728.1 → XP_054219703.1  contactin-associated protein-like 3B isoform X7

      UniProtKB/TrEMBL
      B1AMA2

    14. XM_054363733.1 → XP_054219708.1  contactin-associated protein-like 3B isoform X12

      UniProtKB/TrEMBL
      A0A087WZ03

    15. XM_054363739.1 → XP_054219714.1  contactin-associated protein-like 3B isoform X18

    16. XM_054363736.1 → XP_054219711.1  contactin-associated protein-like 3B isoform X15

      UniProtKB/TrEMBL
      A0A087WUG9

    17. XM_054363735.1 → XP_054219710.1  contactin-associated protein-like 3B isoform X14

      UniProtKB/TrEMBL
      A0A087WXL9

    18. XM_054363734.1 → XP_054219709.1  contactin-associated protein-like 3B isoform X13

    19. XM_054363738.1 → XP_054219713.1  contactin-associated protein-like 3B isoform X17

      UniProtKB/TrEMBL
      A0A087WUG9

    20. XM_054363737.1 → XP_054219712.1  contactin-associated protein-like 3B isoform X16

      UniProtKB/TrEMBL
      A0A087WUG9

    21. XM_054363740.1 → XP_054219715.1  contactin-associated protein-like 3B isoform X19

      UniProtKB/TrEMBL
      A0A087WXL9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_023472.1: Suppressed sequence

      Description
      NG_023472.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.

    2. NG_030301.1: Suppressed sequence

      Description
      NG_030301.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NU0.3 GenPept UniProtKB/Swiss-Prot:Q96NU0

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