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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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