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    CNTNAP3C contactin associated protein family member 3C [ Homo sapiens (human) ]

    Gene ID: 100289279, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CNTNAP3Cprovided by HGNC
    Official Full Name
    contactin associated protein family member 3Cprovided by HGNC
    Primary source
    HGNC:HGNC:53878
    See related
    Ensembl:ENSG00000283378 AllianceGenome:HGNC:53878
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Annotation information
    Note: GeneID: 100289279 originally represented an ATPase synthase pseudogene, but was misplaced for build 38.1 and now represents a CNTNAP3-related sequence. This gene may be partial in the build 38.1 reference assembly and may or may not encode a protein. [25 Mar 2014]
    Annotation category: suggests misassembly
    Expression
    Broad expression in bone marrow (RPKM 2.3), esophagus (RPKM 1.9) and 22 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CNTNAP3C in Genome Data Viewer
    Location:
    9q12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (61330441..61461466)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 74 member A4 Neighboring gene uncharacterized LOC105379435 Neighboring gene ubiquitin specific peptidase 12 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 462, pseudogene Neighboring gene splicing factor 45-like Neighboring gene uncharacterized LOC105379437

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_000009.12 Chromosome 9 Reference GRCh38.p14 Primary Assembly

    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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    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 (GRCh38)

    Genotypes

    General gene information

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    Homology

    General protein information

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    Preferred Names
    contactin-associated protein-like 3
    Names
    contactin associated protein like 3C
    contactin associated protein-like 3-like

    NCBI Reference Sequences (RefSeq)

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    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
      61330441..61461466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545672.4 → XP_011543974.1  contactin-associated protein-like 3 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GTE1
      Conserved Domains (3) summary
      smart00231
      Location:55 → 177
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      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.
      pfam02210
      Location:212 → 341
      Laminin_G_2; Laminin G domain

    2. XM_017015380.2 → XP_016870869.1  contactin-associated protein-like 3 isoform X1

      UniProtKB/TrEMBL
      A0A1B0GTE1
      Related
      ENSP00000489658.1, ENST00000636699.1

    3. XM_011545674.3 → XP_011543976.1  contactin-associated protein-like 3 isoform X5

      UniProtKB/TrEMBL
      A0A2P0CT92
      Conserved Domains (3) summary
      smart00231
      Location:55 → 177
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      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.
      pfam02210
      Location:212 → 341
      Laminin_G_2; Laminin G domain

    4. XM_011545673.3 → XP_011543975.1  contactin-associated protein-like 3 isoform X4

      UniProtKB/TrEMBL
      A0A2P0CT92
      Conserved Domains (3) summary
      smart00231
      Location:55 → 177
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      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.
      pfam02210
      Location:212 → 341
      Laminin_G_2; Laminin G domain

    5. XM_047424298.1 → XP_047280254.1  contactin-associated protein-like 3 isoform X3

    6. XM_047424299.1 → XP_047280255.1  contactin-associated protein-like 3 isoform X6

    Nucleotide Protein
    Heading Accession and Version

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