Gja8 gap junction protein, alpha 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gja8provided by MGI
Official Full Name: gap junction protein, alpha 8provided by MGI
Primary source: MGI:MGI:99953
See related: Ensembl:ENSMUSG00000049908 AllianceGenome:MGI:99953
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: dcm; Aey5; Cx50; Cxnl; Cnx50; Lop10
Summary: Predicted to enable gap junction channel activity and identical protein binding activity. Acts upstream of or within lens development in camera-type eye. Located in plasma membrane. Is expressed in embryo; eye; head; lens; and testis. Used to study cataract 1 multiple types. 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, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (96820882..96833367, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (96913566..96926051, complement)

Chromosome 3 - NC_000069.7 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?

Levels and Modifications of Both Lens Fiber Cell Connexins Are Affected in Connexin Mutant Mice.
Title: Levels and Modifications of Both Lens Fiber Cell Connexins Are Affected in Connexin Mutant Mice.
Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?
Title: Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?
The Cx50-R205G mutation inhibits both central and equatorial lens epithelial cell proliferation to cause small lenses.
Title: Connexin 50-R205G Mutation Perturbs Lens Epithelial Cell Proliferation and Differentiation.
CHOP is not the critical etiological factor for the cataracts observed in homozygous Cx50D47A lenses, further supporting a major role for connexins in the disease.
Title: CHOP is dispensable for lens transparency in wild-type and connexin50 mutant mice.
Results show that electrostatic properties of the connexin-50 (Cx50) gap junction (GJ) pore are important for the channel conductance (gammaj) and the intracellular magnesium ([Mg(2+)]i) modulation.
Title: Variants with increased negative electrostatic potential in the Cx50 gap junction pore increased unitary channel conductance and magnesium modulation.
These results suggest that expression of Cx50D47A induces ER stress, triggering activation of the PERK-ATF4 pathway, which potentially contributes to the lens pathology and leads to increased expression of anti-apoptotic factors, allowing cell survival.
Title: The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses.
Study showed that mouse horizontal cells establish a coupled dendritic network by Cx57 and two coupled axon terminal networks, one made of Cx50 and the other made of Cx57 channels
Title: Connexin50 couples axon terminals of mouse horizontal cells by homotypic gap junctions.
data show that expression and phosphorylation of Cx46 and Cx50 are complementary in seminiferous tubules
Title: Complementary expression and phosphorylation of Cx46 and Cx50 during development and following gene deletion in mouse and in normal and orchitic mink testes.
demonstrate, at the whole gap junction channel level, a crucial role of the surface charge properties in the first transmembrane/first extracellular border domain in determining the efficiency of ion permeation and the Vj gating of Cx50
Title: Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating.
Data show that Ca(V) 1.2 and 1.3 channels are expressed in lens, regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins 50 and 46.
Title: L-type calcium channels play a critical role in maintaining lens transparency by regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

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

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (1)
Spontaneous (3) 1 citation
Targeted (6) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:492885

Gja8 (e-PCR), detects polymorphism
- UniSTS:143211

Gja8 (e-PCR), detects polymorphism
- UniSTS:143212

Gja8 (e-PCR), detects polymorphism
- UniSTS:496771

PMC197251P4 (e-PCR)
- UniSTS:271853

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 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 cell-cell signaling	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of granulocyte macrophage colony-stimulating factor production	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gap junction alpha-8 protein

Names: alpha 8 connexin; connexin l; connexin-50; gap junction membrane channel protein alpha 8; lens fiber protein MP70; lens opacity 10

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_008123.3 → NP_032149.1 gap junction alpha-8 protein

See identical proteins and their annotated locations for NP_032149.1

Status: VALIDATED

Source sequence(s)

AC127297, CF732960, CV557810, GU363513

Consensus CDS

CCDS17651.1

UniProtKB/Swiss-Prot

P28236

UniProtKB/TrEMBL

Q548M7

Related

ENSMUSP00000049532.6, ENSMUST00000062944.7

Conserved Domains (3) summary

pfam00029
Location:3 → 235

Connexin

pfam03509
Location:267 → 332

Connexin50; Gap junction alpha-8 protein (Cx50)

pfam16791
Location:408 → 440

Connexin40_C; Connexin 40 C-terminal domain