Gja6 gap junction protein, alpha 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gja6provided by MGI
Official Full Name: gap junction protein, alpha 6provided by MGI
Primary source: MGI:MGI:95717
See related: Ensembl:ENSMUSG00000055691 AllianceGenome:MGI:95717
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cx33; Cnx33; Cxnk2; Gja-6; A530015O12Rik
Summary: Predicted to enable several functions, including alpha-tubulin binding activity; beta-catenin binding activity; and gap junction channel activity. Predicted to be involved in cell communication by electrical coupling; cell-cell signaling; and heart development. Predicted to be located in several cellular components, including gap junction; intercalated disc; and tight junction. Predicted to be part of connexin complex. Is expressed in embryo. Human ortholog(s) of this gene implicated in several diseases, including bone disease (multiple); erythrokeratodermia variabilis (multiple); hypoplastic left heart syndrome; oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to several human genes including GJA1 (gap junction protein alpha 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis adult (RPKM 2.1), liver E14 (RPKM 0.3) and 9 other tissues See more
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Genomic context

Location:: X F4; X 73.95 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (159685112..159690048, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (160902116..160907052, complement)

Chromosome X - NC_000086.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

findings demonstrate that the interaction of Cx33 with Cx43 within a same heteromeric complex may conduce to channel instability through alteration of the phosphorylation status of Cx43 independently of the control of the c-Src kinase
Title: Heteromeric connexin 43/connexin 33 complex endocytosis: a connexin phosphorylation independent mechanism.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-tubulin binding	ISO Inferred from Sequence Orthology more info
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity involved in cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
enables gap junction hemi-channel activity	ISO Inferred from Sequence Orthology more info
enables monoatomic ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables tubulin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell communication	IEA Inferred from Electronic Annotation more info
involved_in cell communication by electrical coupling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell-cell contact zone	ISO Inferred from Sequence Orthology more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in gap junction	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in tight junction	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gap junction alpha-6 protein

Names: connexin k2; connexin-33; gap junction membrane channel protein alpha 6

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.