GJE1 gap junction protein epsilon 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GJE1provided by HGNC
Official Full Name: gap junction protein epsilon 1provided by HGNC
Primary source: HGNC:HGNC:33251
See related: Ensembl:ENSG00000203733 AllianceGenome:HGNC:33251
Gene type: protein coding
RefSeq status: INFERRED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CX23
Summary: Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within cell morphogenesis; lens development in camera-type eye; and organ growth. Predicted to be integral component of membrane. Predicted to be part of connexin complex. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 6q24.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (142132925..142135358)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (143325015..143327448)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (142454062..142456495)

Chromosome 6 - NC_000006.12 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in lens development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in organ growth	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: putative gap junction epsilon-1 protein

Names: connexin-23; gap junction protein, epsilon 1, 23kDa

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)

NM_001358410.2 → NP_001345339.1 putative gap junction epsilon-1 protein

Status: INFERRED

Source sequence(s)

AL033522

Consensus CDS

CCDS87449.1

UniProtKB/Swiss-Prot

A6NN92

UniProtKB/TrEMBL

A0A654IE96

Related

ENSP00000455469.1, ENST00000450456.3

Conserved Domains (1) summary

pfam00029
Location:18 → 196

Connexin