Gja6 (gap junction protein, alpha 6) - Rat Genome Database

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Gene: Gja6 (gap junction protein, alpha 6) Rattus norvegicus
Analyze
No known orthologs.
Symbol: Gja6
Name: gap junction protein, alpha 6
RGD ID: 2693
Description: Predicted to enable gap junction channel activity. Predicted to be involved in cell communication by electrical coupling; cell-cell signaling; and heart development. Predicted to be part of connexin complex. 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 human GJA1 (gap junction protein alpha 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: connexin 33; connexin k2; connexin-33; cx33; cxn-33; Cxnk2; gap junction alpha-6 protein; gap junction membrane channel protein alpha 6
RGD Orthologs
Alliance Genes
More Info homologs ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X37,649,393 - 37,654,289 (+)NCBIGRCr8
mRatBN7.2X33,840,689 - 33,845,585 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX33,840,549 - 33,845,614 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX35,011,296 - 35,012,156 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X38,473,317 - 38,474,177 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X36,148,440 - 36,149,300 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X35,621,805 - 35,622,665 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X35,946,791 - 35,951,162 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X55,120,709 - 55,121,569 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X55,174,177 - 55,175,038 (+)NCBI
CeleraX34,536,416 - 34,537,276 (+)NCBICelera
Cytogenetic MapXq14NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2. Four novel members of the connexin family of gap junction proteins. Molecular cloning, expression, and chromosome mapping. Haefliger JA, etal., J Biol Chem 1992 Jan 25;267(3):2057-64.
3. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
4. GOA pipeline RGD automated data pipeline
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:15331631   PMID:16236818  


Genomics

Variants

.
Variants in Gja6
5 total Variants

QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
731181Uae27Urinary albumin excretion QTL 272.70.0059urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)X143491017Rat
1298071Edpm12Estrogen-dependent pituitary mass QTL 123.2pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)X292789847927898Rat
10755455Coatc13Coat color QTL 130coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)7440600049406000Rat
631666Iddm5Insulin dependent diabetes mellitus QTL 5blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)X449454949494549Rat
61430Cia18Collagen induced arthritis QTL 183.1joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)X14843113120568734Rat
71116Niddm16Non-insulin dependent diabetes mellitus QTL 167.81blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)X1529780260297802Rat
1598873Memor2Memory QTL 22.5exploratory behavior trait (VT:0010471)average horizontal distance between subject and target during voluntary locomotion in an experimental apparatus (CMO:0002674)X2099094741052531Rat
2290375Gluco34Glucose level QTL 342.75blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)X2099094741203591Rat


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000115489   ⟹   ENSRNOP00000085747
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX33,840,549 - 33,845,614 (+)Ensembl
RefSeq Acc Id: NM_019308   ⟹   NP_062181
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X37,649,393 - 37,654,289 (+)NCBI
mRatBN7.2X33,840,689 - 33,845,585 (+)NCBI
Rnor_6.0X35,621,805 - 35,622,665 (+)NCBI
Rnor_5.0X35,946,791 - 35,951,162 (+)NCBI
RGSC_v3.4X55,120,709 - 55,121,569 (+)RGD
CeleraX34,536,416 - 34,537,276 (+)RGD
Sequence:
Protein Sequences
Protein RefSeqs NP_062181 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA40998 (Get FASTA)   NCBI Sequence Viewer  
  EDL96158 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000085747
  ENSRNOP00000085747.1
  ENSRNOP00055040357
  ENSRNOP00060028106
  ENSRNOP00065017361
GenBank Protein P28233 (Get FASTA)   NCBI Sequence Viewer  
  VZP20204 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_062181   ⟸   NM_019308
- UniProtKB: P28233 (UniProtKB/Swiss-Prot),   A0A654ID76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000085747   ⟸   ENSRNOT00000115489
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28233-F1-model_v2 AlphaFold P28233 1-286 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:2693 AgrOrtholog
BioCyc Gene G2FUF-2510 BioCyc
Ensembl Genes ENSRNOG00000069341 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSRNOG00055028340 UniProtKB/Swiss-Prot
  ENSRNOG00060019842 UniProtKB/Swiss-Prot
  ENSRNOG00065013619 UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000115489 ENTREZGENE
  ENSRNOT00000115489.1 UniProtKB/Swiss-Prot
  ENSRNOT00055049050 UniProtKB/Swiss-Prot
  ENSRNOT00060034272 UniProtKB/Swiss-Prot
  ENSRNOT00065022399 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:54256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54256 ENTREZGENE
PANTHER GAP JUNCTION ALPHA-6 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Gja6 PhenoGen
PRINTS CONNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000069341 RatGTEx
  ENSRNOG00055028340 RatGTEx
  ENSRNOG00060019842 RatGTEx
  ENSRNOG00065013619 RatGTEx
SMART CNX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A654ID76 ENTREZGENE, UniProtKB/TrEMBL
  CXA6_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-04-25 Gja6  gap junction protein, alpha 6  Gja6  gap junction membrane channel protein alpha 6  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2002-06-10 Gja6  gap junction membrane channel protein alpha 6      Name updated 70584 APPROVED