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C2CD4C C2 calcium dependent domain containing 4C [ Homo sapiens (human) ]

Gene ID: 126567, updated on 5-Mar-2024

Summary

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Official Symbol
C2CD4Cprovided by HGNC
Official Full Name
C2 calcium dependent domain containing 4Cprovided by HGNC
Primary source
HGNC:HGNC:29417
See related
Ensembl:ENSG00000183186 MIM:610336; AllianceGenome:HGNC:29417
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
Also known as
NLF3; FAM148C; KIAA1957
Summary
Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 4.0), fat (RPKM 2.0) and 9 other tissues See more
Orthologs
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Genomic context

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See C2CD4C in Genome Data Viewer
Location:
19p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (405445..409147, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (353898..357600, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (405445..409147, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene sperm microtubule associated protein 2 Neighboring gene uncharacterized LOC124904606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:383808-384334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:384335-384861 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:386621-387186 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:387187-387751 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:387752-388316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:388882-389447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:389448-390012 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:397986-399185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:406130-407009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:407010-407890 Neighboring gene proline-rich proteoglycan 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:412911-413666 Neighboring gene SHC adaptor protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:427767-428344 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:428871-430070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:436243-436744 Neighboring gene RNA, 5S ribosomal pseudogene 462

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 novel gene family induced by acute inflammation in endothelial cells. Warton K, et al. Gene, 2004 Nov 10. PMID 15527968
  2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
  3. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
  4. Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB. Li FL, et al. EMBO J, 2022 Sep 1. PMID 35844135, Free PMC Article
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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

  • KIAA1957

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
C2 calcium-dependent domain-containing protein 4C
Names
family with sequence similarity 148, member C
nuclear-localized factor 3

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_001136263.2 → NP_001129735.1  C2 calcium-dependent domain-containing protein 4C

    See identical proteins and their annotated locations for NP_001129735.1

    Status: VALIDATED

    Source sequence(s)
    AC008988
    Consensus CDS
    CCDS45890.1
    UniProtKB/Swiss-Prot
    Q8N3H7, Q8TF44
    Related
    ENSP00000328677.4, ENST00000332235.8
    Conserved Domains (1) summary
    cl14603
    Location:307 → 417
    C2; C2 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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    405445..409147 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527694.2 → XP_011525996.1  C2 calcium-dependent domain-containing protein 4C isoform X1

    Conserved Domains (1) summary
    cl14603
    Location:307 → 391
    C2; C2 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    353898..357600 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319834.1 → XP_054175809.1  C2 calcium-dependent domain-containing protein 4C isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TF44.2 GenPept UniProtKB/Swiss-Prot:Q8TF44

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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