Gja8 gap junction protein, alpha 8 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gja8provided by RGD
Official Full Name: gap junction protein, alpha 8provided by RGD
Primary source: RGD:628890
See related: EnsemblRapid:ENSRNOG00000046703 AllianceGenome:RGD:628890
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Cx50; Cxnl
Summary: Enables identical protein binding activity. Contributes to gap junction channel activity. Involved in cell-cell signaling; regulation of granulocyte macrophage colony-stimulating factor production; and regulation of peroxidase activity. Part of connexin complex. Used to study cataract; cataract 1 multiple types; and microphthalmia. Human ortholog(s) of this gene implicated in cataract and cataract 1 multiple types. Orthologous to human GJA8 (gap junction protein alpha 8). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: 2q34

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (187179668..187181284, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (184490840..184492456, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (199050854..199052470, complement)

Chromosome 2 - NC_086020.1 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 connexin 50 mutation lowers blood pressure in the spontaneously hypertensive rat.
Title: Connexin 50 mutation lowers blood pressure in spontaneously hypertensive rat.
Cx50 might constitute an interesting mechanism for Sox2 induction to modulate the endogenous regenerative potential of neuronal tissue with a potential application in regenerative therapies.
Title: Connexin 50 modulates Sox2 expression in spinal-cord-derived ependymal stem/progenitor cells.
the role of the charged residues at the end of TM-1 in voltage sensing in Cx26, Cx46, and Cx50.
Title: Charged Residues at the First Transmembrane Region Contribute to the Voltage Dependence of the Slow Gate of Connexins.
Gja8 mutation L7Q in heterozygous state affects the lipid profile and the oxidative stress parameters in the spontaneously hypertensive rat strain.
Title: Heterozygous connexin 50 mutation affects metabolic syndrome attributes in spontaneously hypertensive rat.
Upon ependymal stem cells differentiation, Cx50 expression favors glial cell fate, since higher expression levels, endogenous or by over-expression of Cx50, augmented the expression of the astrocyte marker GFAP and impaired the neuronal marker Tuj1.
Title: Connexin 50 Expression in Ependymal Stem Progenitor Cells after Spinal Cord Injury Activation.
Loop gating of connexin 50 hemichannels involves movement of pore-lining residues in the first extracellular loop domain.
Title: Loop gating of connexin hemichannels involves movement of pore-lining residues in the first extracellular loop domain.
L7Q is a novel mutation in connexin 50 (Gja8), causing semi-dominant pulverulent cataracts.
Title: Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.
a cross-talk between CFTR and a variety of gap junction channels. Cytoskeletal scaffolding proteins and/or other intermediate cytoplasmic proteins are likely to play a role in CFTR-connexins interaction.
Title: Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes.
Alteration of gap junction function (change in phosphorylation of Cx46) may be associated with development of selenite cataract, but neither Cx46 nor Cx50 is subject to well-characterized proteolysis associated with selenite cataract.
Title: Connexin 46 and connexin 50 in selenite cataract.
In lens fibers, Cx50 hemichannels are inserted via exocytosis and are rapidly assembled into channels assembled in gap junction plaques.
Title: Distribution of connexin50 channels and hemichannels in lens fibers: a structural approach.

Submit: New GeneRIF Correction See all GeneRIFs (12)

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
contributes_to gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	ISO Inferred from Sequence Orthology more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in gap junction-mediated intercellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gap junction-mediated intercellular transport	ISO Inferred from Sequence Orthology more info
involved_in gap junction-mediated intercellular transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within lens development in camera-type eye	ISO Inferred from Sequence Orthology more info
involved_in regulation of catalase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of glutathione peroxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of granulocyte macrophage colony-stimulating factor production	IMP Inferred from Mutant Phenotype more info	PubMed
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
part_of connexin complex	IDA Inferred from Direct Assay more info	PubMed
part_of connexin complex	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: gap junction alpha-8 protein

Names: connexin l; connexin-50; gap junction membrane channel protein alpha 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_153465.2 → NP_703195.2 gap junction alpha-8 protein

See identical proteins and their annotated locations for NP_703195.2

Status: PROVISIONAL

Source sequence(s)

EU445788

UniProtKB/TrEMBL

B1PL10, B1PL11

Related

ENSRNOP00000066975.1, ENSRNOT00000071622.4

Conserved Domains (6) summary

smart00037
Location:44 → 76

CNX; Connexin homologues

smart01089
Location:168 → 234

Connexin_CCC; Gap junction channel protein cysteine-rich domain

pfam00029
Location:3 → 235

Connexin; Connexin

pfam03509
Location:267 → 332

Connexin50; Gap junction alpha-8 protein (Cx50)

pfam04774
Location:339 → 408

HABP4_PAI-RBP1; Hyaluronan / mRNA binding family

pfam16791
Location:419 → 440

Connexin40_C; Connexin 40 C-terminal domain