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

Gene ID: 126567, updated on 5-Jan-2022

Summary

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
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, Nov 2021]
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

See C2CD4C in Genome Data Viewer
Location:
19p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (405435..409147, complement)
105.20201022 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 MIER family member 2 Neighboring gene theg spermatid protein Neighboring gene SHC adaptor protein 2 Neighboring gene RNA, 5S ribosomal pseudogene 462 Neighboring gene outer dense fiber of sperm tails 3 like 2

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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001136263.2NP_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
    Q8TF44
    Related
    ENSP00000328677.4, ENST00000332235.8
    Conserved Domains (1) summary
    cl14603
    Location:307417
    C2; C2 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    405435..409147 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cl14603
    Location:307391
    C2; C2 domain
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