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C2CD4A C2 calcium dependent domain containing 4A [ Homo sapiens (human) ]

Gene ID: 145741, updated on 17-Jun-2024

Summary

Official Symbol
C2CD4Aprovided by HGNC
Official Full Name
C2 calcium dependent domain containing 4Aprovided by HGNC
Primary source
HGNC:HGNC:33627
See related
Ensembl:ENSG00000198535 MIM:610343; AllianceGenome:HGNC:33627
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
NLF1; FAM148A
Summary
Involved in positive regulation of acute inflammatory response; regulation of cell adhesion; and regulation of vascular permeability involved in acute inflammatory response. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in endometrium (RPKM 1.1), colon (RPKM 0.5) and 14 other tissues See more
Orthologs
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Genomic context

See C2CD4A in Genome Data Viewer
Location:
15q22.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (62066977..62070917)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (59870950..59874893)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (62359176..62363116)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903501 Neighboring gene vacuolar protein sorting 13 homolog C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:62359400-62359915 Neighboring gene Sharpr-MPRA regulatory region 14002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6505 Neighboring gene VPS13C divergent transcript Neighboring gene nucleophosmin 1 pseudogene 47 Neighboring gene MPRA-validated peak2366 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:62407814-62408044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:62456935-62457534 Neighboring gene C2 calcium dependent domain containing 4B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.
EBI GWAS Catalog
A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.
EBI GWAS Catalog
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
EBI GWAS Catalog
Genome-wide association study identifies three novel loci for type 2 diabetes.
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
C2 calcium-dependent domain-containing protein 4A
Names
family with sequence similarity 148, member A
nuclear localized factor 1

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_207322.3NP_997205.2  C2 calcium-dependent domain-containing protein 4A

    See identical proteins and their annotated locations for NP_997205.2

    Status: VALIDATED

    Source sequence(s)
    AC104590, AF504646, BF196228, BM742013, BX648578
    Consensus CDS
    CCDS32258.1
    UniProtKB/Swiss-Prot
    Q8NCU7
    Related
    ENSP00000347712.5, ENST00000355522.5

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    62066977..62070917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    59870950..59874893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)