Gja3 (gap junction protein, alpha 3) - Rat Genome Database

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Gene: Gja3 (gap junction protein, alpha 3) Rattus norvegicus
Analyze
Symbol: Gja3
Name: gap junction protein, alpha 3
RGD ID: 621820
Description: Enables gap junction hemi-channel activity and identical protein binding activity. Involved in response to hydrogen peroxide and response to pH. Located in gap junction. Used to study cataract. Human ortholog(s) of this gene implicated in cataract 14 multiple types. Orthologous to human GJA3 (gap junction protein alpha 3); INTERACTS WITH 6-propyl-2-thiouracil; acrylamide; ammonium chloride.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: connexin 46; connexin j1; connexin-46; cx46; Cxnj1; gap junction alpha-3 protein; gap junction membrane channel protein alpha 3
RGD Orthologs
Human
Mouse
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81535,296,946 - 35,322,405 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1535,295,523 - 35,322,809 (-)EnsemblGRCr8
mRatBN7.21531,181,360 - 31,206,820 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1531,181,369 - 31,206,810 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1533,172,676 - 33,198,138 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01534,323,331 - 34,348,793 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01532,581,458 - 32,606,917 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01537,298,607 - 37,325,370 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1537,299,738 - 37,325,178 (-)Ensemblrn6Rnor6.0
Rnor_5.01541,146,019 - 41,172,888 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41536,052,554 - 36,078,001 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1530,893,821 - 30,919,252 (-)NCBICelera
RGSC_v3.11536,068,253 - 36,093,701 (-)NCBI
Cytogenetic Map15p12NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
connexin complex  (IBA,IEA,ISO,ISS)
gap junction  (IDA,IEA,ISO)
plasma membrane  (IEA,ISO,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
cataract  (NAS)
References

References - curated
# Reference Title Reference Citation
1. Pannexin1 channels contain a glycosylation site that targets the hexamer to the plasma membrane. Boassa D, etal., J Biol Chem. 2007 Oct 26;282(43):31733-43. doi: 10.1074/jbc.M702422200. Epub 2007 Aug 22.
2. pH gating of lens fibre connexins. Eckert R Pflugers Arch. 2002 Mar;443(5-6):843-51. Epub 2001 Dec 13.
3. 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.
4. Connexin46 is retained as monomers in a trans-Golgi compartment of osteoblastic cells. Koval M, etal., J Cell Biol. 1997 May 19;137(4):847-57.
5. A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. Li Y, etal., Mol Vis. 2004 Sep 14;10:668-71.
6. Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma. Lin D, etal., Mol Vis. 2004 Sep 27;10:688-95.
7. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
8. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes. Paul DL, etal., J Cell Biol 1991 Nov;115(4):1077-89.
11. GOA pipeline RGD automated data pipeline
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. New genetic model rat for congenital cataracts due to a connexin 46 (Gja3 ) mutation. Yoshida M, etal., Pathol Int. 2005 Nov;55(11):732-7.
Additional References at PubMed
PMID:9620080   PMID:9683738   PMID:11786642   PMID:16192745   PMID:16380444   PMID:18668357   PMID:19357237   PMID:21606502   PMID:23065326   PMID:27143357   PMID:29158540   PMID:30044662  


Genomics

Comparative Map Data
Gja3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81535,296,946 - 35,322,405 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1535,295,523 - 35,322,809 (-)EnsemblGRCr8
mRatBN7.21531,181,360 - 31,206,820 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1531,181,369 - 31,206,810 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1533,172,676 - 33,198,138 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01534,323,331 - 34,348,793 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01532,581,458 - 32,606,917 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01537,298,607 - 37,325,370 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1537,299,738 - 37,325,178 (-)Ensemblrn6Rnor6.0
Rnor_5.01541,146,019 - 41,172,888 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41536,052,554 - 36,078,001 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1530,893,821 - 30,919,252 (-)NCBICelera
RGSC_v3.11536,068,253 - 36,093,701 (-)NCBI
Cytogenetic Map15p12NCBI
GJA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381320,138,255 - 20,161,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1320,138,252 - 20,161,615 (-)Ensemblhg38GRCh38
GRCh371320,712,394 - 20,735,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,610,394 - 19,633,183 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341319,614,119 - 19,615,427NCBI
Celera131,774,203 - 1,796,991 (-)NCBICelera
Cytogenetic Map13q12.11NCBI
HuRef131,517,843 - 1,540,632 (-)NCBIHuRef
CHM1_11320,680,889 - 20,703,688 (-)NCBICHM1_1
T2T-CHM13v2.01319,334,689 - 19,357,997 (-)NCBIT2T-CHM13v2.0
Gja3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391457,271,917 - 57,295,487 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1457,271,917 - 57,295,557 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381457,034,460 - 57,058,030 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1457,034,460 - 57,058,100 (-)Ensemblmm10GRCm38
MGSCv371457,654,497 - 57,676,782 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361455,989,770 - 56,012,055 (-)NCBIMGSCv36mm8
Celera1454,826,204 - 54,848,538 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1429.82NCBI
GJA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21419,771,129 - 19,791,424 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11310,875,614 - 10,903,716 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0131,464,542 - 1,488,240 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11319,780,656 - 19,803,446 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1319,784,372 - 19,785,679 (-)EnsemblpanPan2panpan1.1
GJA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12517,986,270 - 18,004,344 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2518,002,817 - 18,004,160 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2518,016,882 - 18,034,847 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02518,124,207 - 18,142,180 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2518,124,215 - 18,143,066 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12517,990,559 - 18,008,503 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02518,002,295 - 18,020,235 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02518,058,980 - 18,076,953 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Gja3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945120,017,114 - 120,040,168 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367201,583,588 - 1,584,904 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049367201,564,680 - 1,586,379 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl11750,658 - 751,800 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.111750,658 - 751,889 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GJA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.13820,352 - 852,003 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl3846,982 - 848,286 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605743,732,906 - 43,755,939 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gja3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477617,579,913 - 17,581,121 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462477617,562,050 - 17,585,308 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Gja3
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11267,763,183 - 67,787,951 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Gja3
343 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:20
Count of miRNA genes:17
Interacting mature miRNAs:20
Transcripts:ENSRNOT00000011699
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1641913Colcr2Colorectal carcinoma resistance QTL 26.570.0197intestine integrity trait (VT:0010554)poorly differentiated malignant colorectal tumor number (CMO:0002076)15231575947315759Rat
5684946Bss98Bone structure and strength QTL 983.90.0026tibia strength trait (VT:1000284)tibia ultimate force (CMO:0001734)15139411584Rat
1641887Alcrsp14Alcohol response QTL 14response to alcohol trait (VT:0010489)brain neurotensin receptor 1 density (CMO:0002068)15144836456Rat
738017Hcas7Hepatocarcinoma susceptibility QTL 72.91liver integrity trait (VT:0010547)liver nonremodeling tumorous lesion volume to total liver volume ratio (CMO:0001464)15231575953331089Rat
152025253Hrtrt24Heart rate QTL 243.82heart pumping trait (VT:2000009)153185580392671517Rat
10054130Srcrt8Stress Responsive Cort QTL 82.180.0085blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)152852773273527732Rat
10755503Bp391Blood pressure QTL 3912.37arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)152272835342072050Rat
1578646Bmd18Bone mineral density QTL 185.2femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)1525285835104695021Rat
2324620Coatc3Coat color QTL 3coat/hair pigmentation trait (VT:0010463)pigmented coat/hair area to total coat/hair area ratio (CMO:0001810)152233635152597086Rat
1578647Bmd17Bone mineral density QTL 174femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)1525285835104695021Rat
61424Scl1Serum cholesterol level QTL 17.70.001blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)151915576287086765Rat
10401805Kidm51Kidney mass QTL 51kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)15278592347785923Rat
2317750Glom26Glomerulus QTL 264.3urine protein amount (VT:0005160)urine protein level (CMO:0000591)151492659471614418Rat
631550Bw7Body weight QTL 73.6body mass (VT:0001259)body weight (CMO:0000012)152233635167336351Rat
1578660Bss19Bone structure and strength QTL 194.3femur morphology trait (VT:0000559)bone trabecular cross-sectional area (CMO:0002311)1525285835104695021Rat


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
10 12 62 83 52 63 34 36 34 6 232 119 11 74 61 74 29 4 4

Sequence


Ensembl Acc Id: ENSRNOT00000011699   ⟹   ENSRNOP00000011699
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl1535,295,523 - 35,322,412 (-)Ensembl
mRatBN7.2 Ensembl1531,181,369 - 31,206,810 (-)Ensembl
Rnor_6.0 Ensembl1537,299,738 - 37,325,178 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000148468   ⟹   ENSRNOP00000102347
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl1535,295,736 - 35,322,809 (-)Ensembl
RefSeq Acc Id: NM_024376   ⟹   NP_077352
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81535,296,946 - 35,322,405 (-)NCBI
mRatBN7.21531,181,360 - 31,206,820 (-)NCBI
Rnor_6.01537,299,723 - 37,325,176 (-)NCBI
Rnor_5.01541,146,019 - 41,172,888 (-)NCBI
RGSC_v3.41536,052,554 - 36,078,001 (-)RGD
Celera1530,893,821 - 30,919,252 (-)RGD
Sequence:
Protein Sequences
Protein RefSeqs NP_077352 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CAA41036 (Get FASTA)   NCBI Sequence Viewer  
  EDM14337 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000011699
GenBank Protein P29414 (Get FASTA)   NCBI Sequence Viewer  
  VZP20202 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_077352   ⟸   NM_024376
- UniProtKB: P29414 (UniProtKB/Swiss-Prot),   G3V747 (UniProtKB/TrEMBL),   A6KHA8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000011699   ⟸   ENSRNOT00000011699
Ensembl Acc Id: ENSRNOP00000102347   ⟸   ENSRNOT00000148468
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29414-F1-model_v2 AlphaFold P29414 1-416 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:621820 AgrOrtholog
BioCyc Gene G2FUF-13611 BioCyc
Ensembl Genes ENSRNOG00000008847 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000011699 ENTREZGENE
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot
InterPro Connexin UniProtKB/Swiss-Prot
  Connexin46 UniProtKB/Swiss-Prot
  Connexin_C UniProtKB/Swiss-Prot
  Connexin_CCC UniProtKB/Swiss-Prot
  Connexin_CS UniProtKB/Swiss-Prot
  Connexin_N UniProtKB/Swiss-Prot
  Connexin_N_sf UniProtKB/Swiss-Prot
KEGG Report rno:79217 UniProtKB/Swiss-Prot
NCBI Gene 79217 ENTREZGENE
PANTHER PTHR11984 UniProtKB/Swiss-Prot
  PTHR11984:SF12 UniProtKB/Swiss-Prot
Pfam Connexin UniProtKB/Swiss-Prot
PhenoGen Gja3 PhenoGen
PRINTS CONNEXIN UniProtKB/Swiss-Prot
  CONNEXINA3 UniProtKB/Swiss-Prot
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot
  CONNEXINS_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000008847 RatGTEx
SMART CNX UniProtKB/Swiss-Prot
  Connexin_CCC UniProtKB/Swiss-Prot
Superfamily-SCOP SSF118220 UniProtKB/Swiss-Prot
UniProt A6KHA8 ENTREZGENE, UniProtKB/TrEMBL
  CXA3_RAT UniProtKB/Swiss-Prot
  G3V747 ENTREZGENE, UniProtKB/TrEMBL
  P29414 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-04-25 Gja3  gap junction protein, alpha 3  Gja3  gap junction membrane channel protein alpha 3  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-01-20 Gja3  gap junction membrane channel protein alpha 3    connexin 46  Name updated 1299863 APPROVED
2002-08-07 Gja3  connexin 46      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_cellular_localization present at lens fiber junctional maculae 728416
gene_protein 46 kDa 728416