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

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; AllianceGenome:HGNC:33628
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
Summary: Involved in positive regulation of acute inflammatory response; regulation of cell adhesion; and regulation of vascular permeability involved in acute inflammatory response. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in fat (RPKM 8.5), pancreas (RPKM 3.0) and 11 other tissues See more
Orthologs: all
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Genomic context

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 (62163535..62165285, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (59967560..59969310, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (62455734..62457484, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Selective Transcription Factor Blockade Reduces Human Retinal Endothelial Cell Expression of Intercellular Adhesion Molecule-1 and Leukocyte Binding.
Title: Selective Transcription Factor Blockade Reduces Human Retinal Endothelial Cell Expression of Intercellular Adhesion Molecule-1 and Leukocyte Binding.
C2CD4A/B variants in the predisposition of lung cancer in the Chinese Han population.
Title: C2CD4A/B variants in the predisposition of lung cancer in the Chinese Han population.
rs7163757 contributes to genetic risk of islet dysfunction and type 2 diabetes by increasing NFAT-mediated islet enhancer activity and modulating C2CD4B, and possibly C2CD4A, expression in (patho)physiologic states.
Title: A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression.
The present data thus provide evidence for a limited role for changes in VPS13C expression in conferring altered type 2 diabetes risk at this locus, particularly in females, and suggest that C2CD4A, but not C2CD4B, may also be involved.
Title: Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice.
Loss of NLF2 gene expression in the endometrium of patients with implantation failure after in vitro ertilization treatment.
Title: NLF2 gene expression in the endometrium of patients with implantation failure after IVF treatment.
Single nucleotide polymorphism in C2CD4B is associated with type 2 diabetes.
Title: A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of new genetic risk variants for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in positive regulation of acute inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of vascular permeability involved in acute inflammatory response	IDA Inferred from Direct Assay more info	PubMed

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

General protein information

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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)

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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.