gjb8 gap junction protein beta 8 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: gjb8provided by ZNC
Official Full Name: gap junction protein beta 8provided by ZNC
Primary source: ZFIN:ZDB-GENE-040406-1
See related: Ensembl:ENSDARG00000042707 AllianceGenome:ZFIN:ZDB-GENE-040406-1
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: cx30.3; cx33.8; zgc:110651
Summary: Enables gap junction channel activity. Acts upstream of or within inner ear development and transmembrane transport. Predicted to be located in gap junction and plasma membrane. Predicted to be part of connexin complex. Is expressed in several structures, including cardiovascular system; fin; pleuroperitoneal region; sensory system; and xanthoblast. Human ortholog(s) of this gene implicated in several diseases, including Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; ectodermal dysplasia (multiple); and nonsyndromic deafness (multiple). Orthologous to several human genes including GJB2 (gap junction protein beta 2). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 9

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	9	NC_007120.7 (21401194..21405059)
105	previous assembly	GRCz10 (GCF_000002035.5)	9	NC_007120.6 (21590325..21594190)

Chromosome 9 - NC_007120.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model.
Title: The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model.
Suggest that the zebrafish Cx30.3 and mammalian CX26 may play alike roles in the inner ear.
Title: The connexin 30.3 of zebrafish homologue of human connexin 26 may play similar role in the inner ear.
Data suggest that Cx30.3, like mammalian Cx26 and Cx30, may play a significant role in skin development, hearing, and balance in zebrafish.
Title: Zebrafish cx30.3: identification and characterization of a gap junction gene highly expressed in the skin.

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General gene information

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Gene Ontology Provided by ZFIN

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell communication	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in gap junction-mediated intercellular transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation 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 gap junction	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gap junction protein beta 8

Names: connexin 30.3; connexin 33.8

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_212825.2 → NP_997990.2 gap junction protein beta 8

See identical proteins and their annotated locations for NP_997990.2

Status: PROVISIONAL

Source sequence(s)

BC095350

UniProtKB/TrEMBL

F6NLP5, F6P489, Q503F4

Related

ENSDARP00000062668.5, ENSDART00000062669.6

Conserved Domains (3) summary

smart00037
Location:43 → 75

CNX; Connexin homologues

smart01089
Location:148 → 215

Connexin_CCC; Gap junction channel protein cysteine-rich domain

pfam00029
Location:2 → 217

Connexin; Connexin