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

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Gene: Gja3 (gap junction protein, alpha 3) Rattus norvegicus
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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 and membrane raft. 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
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21531,181,360 - 31,206,808 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1531,181,369 - 31,206,810 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1533,172,676 - 33,198,138 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01534,323,331 - 34,348,793 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01532,581,458 - 32,606,917 (-)NCBIRnor_WKY
Rnor_6.01537,298,607 - 37,325,370 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1537,299,738 - 37,325,178 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01541,146,019 - 41,172,888 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41536,052,554 - 36,078,001 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11536,068,253 - 36,093,701 (-)NCBI
Celera1530,893,821 - 30,919,252 (-)NCBICelera
Cytogenetic Map15p12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
connexin complex  (IEA,ISO,ISS)
gap junction  (IDA,ISO)
membrane raft  (IDA)
plasma membrane  (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
mRatBN7.21531,181,360 - 31,206,808 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1531,181,369 - 31,206,810 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1533,172,676 - 33,198,138 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01534,323,331 - 34,348,793 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01532,581,458 - 32,606,917 (-)NCBIRnor_WKY
Rnor_6.01537,298,607 - 37,325,370 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1537,299,738 - 37,325,178 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01541,146,019 - 41,172,888 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41536,052,554 - 36,078,001 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11536,068,253 - 36,093,701 (-)NCBI
Celera1530,893,821 - 30,919,252 (-)NCBICelera
Cytogenetic Map15p12NCBI
GJA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381320,138,255 - 20,161,565 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1320,138,255 - 20,161,052 (-)EnsemblGRCh38hg38GRCh38
GRCh371320,712,394 - 20,735,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361319,610,394 - 19,633,183 (-)NCBINCBI36Build 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 - 19,357,484 (-)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 Ensembl
GRCm381457,034,460 - 57,058,030 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1457,034,460 - 57,058,100 (-)EnsemblGRCm38mm10GRCm38
MGSCv371457,654,497 - 57,676,782 (-)NCBIGRCm37MGSCv37mm9NCBIm37
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
PanPan1.11319,780,656 - 19,803,446 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1319,784,372 - 19,785,679 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0131,464,542 - 1,488,240 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
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 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2518,016,882 - 18,034,847 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02518,124,207 - 18,142,180 (+)NCBIROS_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_1.0
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
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 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
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 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
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_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477617,562,050 - 17,585,308 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Gja3
56 total Variants
miRNA Target Status

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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
8552920Pigfal8Plasma insulin-like growth factor 1 level QTL 83blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)15134723002Rat
8694361Abfw6Abdominal fat weight QTL 610.20.001visceral adipose mass (VT:0010063)abdominal fat pad weight to body weight ratio (CMO:0000095)15134723002Rat
9589149Insul29Insulin level QTL 299.060.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)15134723002Rat
731170Pur3Proteinuria QTL 32.30.0005urine protein amount (VT:0005160)urine protein excretion rate (CMO:0000759)15141686771Rat
1641887Alcrsp14Alcohol response QTL 14response to alcohol trait (VT:0010489)brain neurotensin receptor 1 density (CMO:0002068)15142356671Rat
2298549Neuinf12Neuroinflammation QTL 123.5nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)15155302115Rat
10401805Kidm51Kidney mass QTL 51kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1530632945306329Rat
738017Hcas7Hepatocarcinoma susceptibility QTL 72.91liver integrity trait (VT:0010547)liver nonremodeling tumorous lesion volume to total liver volume ratio (CMO:0001464)15226636846921453Rat
1582251Gluco24Glucose level QTL 243.20.0008blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)15553075650530756Rat
631273Lecl2Lens clarity QTL 20.001lens clarity trait (VT:0001304)age of onset/diagnosis of cataract (CMO:0001584)151059608955596089Rat
2300167Bmd63Bone mineral density QTL 635.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)151111114256111142Rat
2300173Bmd62Bone mineral density QTL 6212.80.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)151111114256111142Rat
2293688Bss29Bone structure and strength QTL 295.310.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)151111114256111142Rat
2317750Glom26Glomerulus QTL 264.3urine protein amount (VT:0005160)urine protein level (CMO:0000591)151249614165205939Rat
61424Scl1Serum cholesterol level QTL 17.70.001blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)151672552880672115Rat
1331729Rf42Renal function QTL 423.071kidney blood vessel physiology trait (VT:0100012)absolute change in renal blood flow rate (CMO:0001168)151736289773690657Rat
631550Bw7Body weight QTL 73.6body mass (VT:0001259)body weight (CMO:0000012)151985656634924750Rat
2324620Coatc3Coat color QTL 3coat/hair pigmentation trait (VT:0010463)pigmented coat/hair area to total coat/hair area ratio (CMO:0001810)151985656646187442Rat
10054130Srcrt8Stress Responsive Cort QTL 82.180.0085blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)152211793367117933Rat
1578646Bmd18Bone mineral density QTL 185.2femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)152280624098288169Rat
1578647Bmd17Bone mineral density QTL 174femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)152280624098288169Rat
1578660Bss19Bone structure and strength QTL 194.3femur morphology trait (VT:0000559)bone trabecular cross-sectional area (CMO:0002311)152280624098288169Rat
1582214Stl21Serum triglyceride level QTL 213.10.022blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)152803066582262678Rat
1582227Gluco30Glucose level QTL 303.60.0003blood glucose amount (VT:0000188)absolute change in blood glucose level area under curve (CMO:0002034)152803066582262678Rat
1582228Epfw3Epididymal fat weight QTL 34.10.0002epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)152803066582262678Rat
1582242Gluco28Glucose level QTL 283.30.0008blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)152803066582262678Rat
1582244Bw79Body weight QTL 7940.0002epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)152803066582262678Rat


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 19
Low 24 14 14 5 14 8 11 10 30 16 5 8
Below cutoff 14 8 12 8 35 5 18 6

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000011699   ⟹   ENSRNOP00000011699
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1531,181,369 - 31,206,810 (-)Ensembl
Rnor_6.0 Ensembl1537,299,738 - 37,325,178 (-)Ensembl
RefSeq Acc Id: NM_024376   ⟹   NP_077352
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21531,181,360 - 31,206,808 (-)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  
  P29414 (Get FASTA)   NCBI Sequence Viewer  
  VZP20202 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_077352   ⟸   NM_024376
- Peptide Label: precursor
- UniProtKB: G3V747 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000011699   ⟸   ENSRNOT00000011699
Protein Domains
CNX   Connexin_CCC

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, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000011699 ENTREZGENE
  ENSRNOP00000011699.2 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000011699 ENTREZGENE
  ENSRNOT00000011699.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin46 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_C 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:79217 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79217 ENTREZGENE
PANTHER PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Gja3 PhenoGen
PRINTS CONNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINA3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CONNEXINS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CNX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin_CCC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF118220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 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