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C2CD4B C2 calcium dependent domain containing 4B [ Homo sapiens (human) ]

Gene ID: 388125, updated on 17-Jun-2019

Summary

Official Symbol
C2CD4Bprovided by HGNC
Official Full Name
C2 calcium dependent domain containing 4Bprovided by HGNC
Primary source
HGNC:HGNC:33628
See related
Ensembl:ENSG00000205502 MIM:610344
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
NLF2; FAM148B
Expression
Biased expression in fat (RPKM 8.5), pancreas (RPKM 3.0) and 11 other tissues See more
Orthologs

Genomic context

See C2CD4B in Genome Data Viewer
Location:
15q22.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (62163535..62165732, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (62455734..62458359, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene C2 calcium dependent domain containing 4A Neighboring gene nucleophosmin 1 pseudogene 47 Neighboring gene uncharacterized LOC107984784 Neighboring gene GOLGA2 pseudogene 11

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.
NHGRI GWA Catalog
A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.
NHGRI GWA Catalog
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
NHGRI GWA Catalog
Genome-wide association study identifies three novel loci for type 2 diabetes.
NHGRI GWA Catalog
Identification of new genetic risk variants for type 2 diabetes.
NHGRI GWA Catalog
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
NHGRI GWA Catalog

General gene information

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
C2 calcium-dependent domain-containing protein 4B
Names
family with sequence similarity 148, member B
nuclear localized factor 2

NCBI Reference Sequences (RefSeq)

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_001007595.3NP_001007596.2  C2 calcium-dependent domain-containing protein 4B

    See identical proteins and their annotated locations for NP_001007596.2

    Status: VALIDATED

    Source sequence(s)
    AC126323, AW292865, BM023530, BM127548, BM974537, BX109954, DA584890
    Consensus CDS
    CCDS32259.1
    UniProtKB/Swiss-Prot
    A6NLJ0
    Related
    ENSP00000369755.3, ENST00000380392.4
    Conserved Domains (1) summary
    PHA03247
    Location:10300
    PHA03247; large tegument protein UL36; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    62163535..62165732 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022170.1XP_016877659.1  C2 calcium-dependent domain-containing protein 4B isoform X1

    UniProtKB/Swiss-Prot
    A6NLJ0
    Conserved Domains (1) summary
    PHA03247
    Location:10300
    PHA03247; large tegument protein UL36; Provisional
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