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
Alliance Orthologs
More Info
more info ...
More Info
Species
Gene symbol and name
Data Source
Assertion derived from
less info ...
Orthologs 1
Homo sapiens (human):
GJA3 (gap junction protein alpha 3) HGNC
EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Mus musculus (house mouse):
Gja3 (gap junction protein, alpha 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):
GJA3 (gap junction protein alpha 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Canis lupus familiaris (dog):
GJA3 (gap junction protein alpha 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):
Gja3 (gap junction protein alpha 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Sus scrofa (pig):
GJA3 (gap junction protein alpha 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):
GJA3 (gap junction protein alpha 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):
Gja3 (gap junction protein alpha 3) Transitive Ortholog Pipeline
Transitive Ortholog Pipeline
Alliance orthologs 3
Mus musculus (house mouse):
Gja3 (gap junction protein, alpha 3)
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Homo sapiens (human):
GJA3 (gap junction protein alpha 3)
Alliance
DIOPT (Ensembl Compara|HGNC|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Danio rerio (zebrafish):
gja3 (gap junction protein, alpha 3)
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OMA|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):
gja3
Alliance
DIOPT (Ensembl Compara|Hieranoid|InParanoid|OrthoFinder|OrthoInspector|PANTHER|PhylomeDB|SonicParanoid)
Latest Assembly:
GRCr8 - GRCr8 Assembly
Position:
Rat Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCr8 15 35,296,946 - 35,322,405 (-) NCBI GRCr8 mRatBN7.2 15 31,181,360 - 31,206,820 (-) NCBI mRatBN7.2 mRatBN7.2 mRatBN7.2 Ensembl 15 31,181,369 - 31,206,810 (-) Ensembl mRatBN7.2 Ensembl UTH_Rnor_SHR_Utx 15 33,172,676 - 33,198,138 (-) NCBI Rnor_SHR UTH_Rnor_SHR_Utx UTH_Rnor_SHRSP_BbbUtx_1.0 15 34,323,331 - 34,348,793 (-) NCBI Rnor_SHRSP UTH_Rnor_SHRSP_BbbUtx_1.0 UTH_Rnor_WKY_Bbb_1.0 15 32,581,458 - 32,606,917 (-) NCBI Rnor_WKY UTH_Rnor_WKY_Bbb_1.0 Rnor_6.0 15 37,298,607 - 37,325,370 (-) NCBI Rnor6.0 Rnor_6.0 rn6 Rnor6.0 Rnor_6.0 Ensembl 15 37,299,738 - 37,325,178 (-) Ensembl Rnor6.0 rn6 Rnor6.0 Rnor_5.0 15 41,146,019 - 41,172,888 (-) NCBI Rnor5.0 Rnor_5.0 rn5 Rnor5.0 RGSC_v3.4 15 36,052,554 - 36,078,001 (-) NCBI RGSC3.4 RGSC_v3.4 rn4 RGSC3.4 RGSC_v3.1 15 36,068,253 - 36,093,701 (-) NCBI Celera 15 30,893,821 - 30,919,252 (-) NCBI Celera Cytogenetic Map 15 p12 NCBI
JBrowse:
View Region in Genome Browser (JBrowse)
Model
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.
Gja3 Rat Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCr8 15 35,296,946 - 35,322,405 (-) NCBI GRCr8 mRatBN7.2 15 31,181,360 - 31,206,820 (-) NCBI mRatBN7.2 mRatBN7.2 mRatBN7.2 Ensembl 15 31,181,369 - 31,206,810 (-) Ensembl mRatBN7.2 Ensembl UTH_Rnor_SHR_Utx 15 33,172,676 - 33,198,138 (-) NCBI Rnor_SHR UTH_Rnor_SHR_Utx UTH_Rnor_SHRSP_BbbUtx_1.0 15 34,323,331 - 34,348,793 (-) NCBI Rnor_SHRSP UTH_Rnor_SHRSP_BbbUtx_1.0 UTH_Rnor_WKY_Bbb_1.0 15 32,581,458 - 32,606,917 (-) NCBI Rnor_WKY UTH_Rnor_WKY_Bbb_1.0 Rnor_6.0 15 37,298,607 - 37,325,370 (-) NCBI Rnor6.0 Rnor_6.0 rn6 Rnor6.0 Rnor_6.0 Ensembl 15 37,299,738 - 37,325,178 (-) Ensembl Rnor6.0 rn6 Rnor6.0 Rnor_5.0 15 41,146,019 - 41,172,888 (-) NCBI Rnor5.0 Rnor_5.0 rn5 Rnor5.0 RGSC_v3.4 15 36,052,554 - 36,078,001 (-) NCBI RGSC3.4 RGSC_v3.4 rn4 RGSC3.4 RGSC_v3.1 15 36,068,253 - 36,093,701 (-) NCBI Celera 15 30,893,821 - 30,919,252 (-) NCBI Celera Cytogenetic Map 15 p12 NCBI
GJA3 Human Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCh38 13 20,138,255 - 20,161,565 (-) NCBI GRCh38 GRCh38 hg38 GRCh38 GRCh38.p14 Ensembl 13 20,138,255 - 20,161,052 (-) Ensembl GRCh38 hg38 GRCh38 GRCh37 13 20,712,394 - 20,735,191 (-) NCBI GRCh37 GRCh37 hg19 GRCh37 Build 36 13 19,610,394 - 19,633,183 (-) NCBI NCBI36 Build 36 hg18 NCBI36 Build 34 13 19,614,119 - 19,615,427 NCBI Celera 13 1,774,203 - 1,796,991 (-) NCBI Celera Cytogenetic Map 13 q12.11 NCBI HuRef 13 1,517,843 - 1,540,632 (-) NCBI HuRef CHM1_1 13 20,680,889 - 20,703,688 (-) NCBI CHM1_1 T2T-CHM13v2.0 13 19,334,689 - 19,357,997 (-) NCBI T2T-CHM13v2.0
Gja3 Mouse Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCm39 14 57,271,917 - 57,295,487 (-) NCBI GRCm39 GRCm39 mm39 GRCm39 Ensembl 14 57,271,917 - 57,295,557 (-) Ensembl GRCm39 Ensembl GRCm38 14 57,034,460 - 57,058,030 (-) NCBI GRCm38 GRCm38 mm10 GRCm38 GRCm38.p6 Ensembl 14 57,034,460 - 57,058,100 (-) Ensembl GRCm38 mm10 GRCm38 MGSCv37 14 57,654,497 - 57,676,782 (-) NCBI GRCm37 MGSCv37 mm9 NCBIm37 MGSCv36 14 55,989,770 - 56,012,055 (-) NCBI MGSCv36 mm8 Celera 14 54,826,204 - 54,848,538 (-) NCBI Celera Cytogenetic Map 14 C3 NCBI cM Map 14 29.82 NCBI
GJA3 Bonobo Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl NHGRI_mPanPan1-v2 14 19,771,129 - 19,791,424 (-) NCBI NHGRI_mPanPan1-v2 NHGRI_mPanPan1 13 10,875,614 - 10,903,716 (-) NCBI NHGRI_mPanPan1 Mhudiblu_PPA_v0 13 1,464,542 - 1,488,240 (-) NCBI Mhudiblu_PPA_v0 Mhudiblu_PPA_v0 panPan3 PanPan1.1 13 19,780,656 - 19,803,446 (-) NCBI panpan1.1 PanPan1.1 panPan2 PanPan1.1 Ensembl 13 19,784,372 - 19,785,679 (-) Ensembl panpan1.1 panPan2
GJA3 Dog Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl CanFam3.1 25 17,986,270 - 18,004,344 (+) NCBI CanFam3.1 CanFam3.1 canFam3 CanFam3.1 CanFam3.1 Ensembl 25 18,002,817 - 18,004,160 (+) Ensembl CanFam3.1 canFam3 CanFam3.1 Dog10K_Boxer_Tasha 25 18,016,882 - 18,034,847 (+) NCBI Dog10K_Boxer_Tasha ROS_Cfam_1.0 25 18,124,207 - 18,142,180 (+) NCBI ROS_Cfam_1.0 ROS_Cfam_1.0 Ensembl 25 18,124,215 - 18,143,066 (+) Ensembl ROS_Cfam_1.0 Ensembl UMICH_Zoey_3.1 25 17,990,559 - 18,008,503 (+) NCBI UMICH_Zoey_3.1 UNSW_CanFamBas_1.0 25 18,002,295 - 18,020,235 (+) NCBI UNSW_CanFamBas_1.0 UU_Cfam_GSD_1.0 25 18,058,980 - 18,076,953 (+) NCBI UU_Cfam_GSD_1.0
Gja3 Squirrel Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl HiC_Itri_2 NW_024404945 120,017,114 - 120,040,168 (+) NCBI HiC_Itri_2 SpeTri2.0 Ensembl NW_004936720 1,583,588 - 1,584,904 (+) Ensembl SpeTri2.0 SpeTri2.0 Ensembl SpeTri2.0 NW_004936720 1,564,680 - 1,586,379 (+) NCBI SpeTri2.0 SpeTri2.0 SpeTri2.0
GJA3
GJA3
Gja3
.
Predicted Target Of
Count of predictions: 20 Count of miRNA genes: 17 Interacting mature miRNAs: 20 Transcripts: ENSRNOT00000011699 Prediction methods: Miranda, Rnahybrid, Targetscan Result types: miRGate_prediction
1331729 Rf42 Renal function QTL 42 3.071 kidney blood vessel physiology trait (VT:0100012) absolute change in renal blood flow rate (CMO:0001168) 15 17362897 73690657 Rat 1641887 Alcrsp14 Alcohol response QTL 14 response to alcohol trait (VT:0010489) brain neurotensin receptor 1 density (CMO:0002068) 15 1 42356671 Rat 10755503 Bp391 Blood pressure QTL 391 2.37 arterial blood pressure trait (VT:2000000) systolic blood pressure (CMO:0000004) 15 20248600 37896129 Rat 1582227 Gluco30 Glucose level QTL 30 3.6 0.0003 blood glucose amount (VT:0000188) absolute change in blood glucose level area under curve (CMO:0002034) 15 28030665 82262678 Rat 1582228 Epfw3 Epididymal fat weight QTL 3 4.1 0.0002 epididymal fat pad mass (VT:0010421) epididymal fat pad weight to body weight ratio (CMO:0000658) 15 28030665 82262678 Rat 1578646 Bmd18 Bone mineral density QTL 18 5.2 femur mineral mass (VT:0010011) trabecular volumetric bone mineral density (CMO:0001729) 15 22806240 98288169 Rat 9589149 Insul29 Insulin level QTL 29 9.06 0.001 blood insulin amount (VT:0001560) plasma insulin level (CMO:0000342) 15 1 34723002 Rat 1578647 Bmd17 Bone mineral density QTL 17 4 femur mineral mass (VT:0010011) total volumetric bone mineral density (CMO:0001728) 15 22806240 98288169 Rat 10401805 Kidm51 Kidney mass QTL 51 kidney mass (VT:0002707) both kidneys wet weight (CMO:0000085) 15 306329 45306329 Rat 2317750 Glom26 Glomerulus QTL 26 4.3 urine protein amount (VT:0005160) urine protein level (CMO:0000591) 15 12496141 65205939 Rat 2298549 Neuinf12 Neuroinflammation QTL 12 3.5 nervous system integrity trait (VT:0010566) spinal cord beta-2 microglobulin mRNA level (CMO:0002125) 15 1 55302115 Rat 8552920 Pigfal8 Plasma insulin-like growth factor 1 level QTL 8 3 blood insulin-like growth factor amount (VT:0010479) plasma insulin-like growth factor 1 level (CMO:0001299) 15 1 34723002 Rat 2293688 Bss29 Bone structure and strength QTL 29 5.31 0.0001 femur morphology trait (VT:0000559) femur midshaft cortical cross-sectional area (CMO:0001663) 15 11111142 56111142 Rat 8694361 Abfw6 Abdominal fat weight QTL 6 10.2 0.001 visceral adipose mass (VT:0010063) abdominal fat pad weight to body weight ratio (CMO:0000095) 15 1 34723002 Rat 1582214 Stl21 Serum triglyceride level QTL 21 3.1 0.022 blood triglyceride amount (VT:0002644) serum triglyceride level (CMO:0000360) 15 28030665 82262678 Rat 631273 Lecl2 Lens clarity QTL 2 0.001 lens clarity trait (VT:0001304) age of onset/diagnosis of cataract (CMO:0001584) 15 10596089 55596089 Rat 2300167 Bmd63 Bone mineral density QTL 63 5.9 0.0001 femur mineral mass (VT:0010011) volumetric bone mineral density (CMO:0001553) 15 11111142 56111142 Rat 731170 Pur3 Proteinuria QTL 3 2.3 0.0005 urine protein amount (VT:0005160) urine protein excretion rate (CMO:0000759) 15 1 41686771 Rat 738017 Hcas7 Hepatocarcinoma susceptibility QTL 7 2.91 liver integrity trait (VT:0010547) liver nonremodeling tumorous lesion volume to total liver volume ratio (CMO:0001464) 15 2266368 46921453 Rat 152025253 Hrtrt24 Heart rate QTL 24 3.82 heart pumping trait (VT:2000009) 15 27885774 86257085 Rat 10054130 Srcrt8 Stress Responsive Cort QTL 8 2.18 0.0085 blood corticosterone amount (VT:0005345) plasma corticosterone level (CMO:0001173) 15 22117933 67117933 Rat 2300173 Bmd62 Bone mineral density QTL 62 12.8 0.0001 lumbar vertebra mineral mass (VT:0010511) volumetric bone mineral density (CMO:0001553) 15 11111142 56111142 Rat 2324620 Coatc3 Coat color QTL 3 coat/hair pigmentation trait (VT:0010463) pigmented coat/hair area to total coat/hair area ratio (CMO:0001810) 15 19856566 46187442 Rat 61424 Scl1 Serum cholesterol level QTL 1 7.7 0.001 blood cholesterol amount (VT:0000180) serum total cholesterol level (CMO:0000363) 15 16725528 80672115 Rat 1582251 Gluco24 Glucose level QTL 24 3.2 0.0008 blood glucose amount (VT:0000188) blood glucose level (CMO:0000046) 15 5530756 50530756 Rat 631550 Bw7 Body weight QTL 7 3.6 body mass (VT:0001259) body weight (CMO:0000012) 15 19856566 34924750 Rat 1582242 Gluco28 Glucose level QTL 28 3.3 0.0008 blood glucose amount (VT:0000188) blood glucose level area under curve (AUC) (CMO:0000350) 15 28030665 82262678 Rat 1578660 Bss19 Bone structure and strength QTL 19 4.3 femur morphology trait (VT:0000559) bone trabecular cross-sectional area (CMO:0002311) 15 22806240 98288169 Rat 1582244 Bw79 Body weight QTL 79 4 0.0002 epididymal fat pad mass (VT:0010421) epididymal fat pad weight to body weight ratio (CMO:0000658) 15 28030665 82262678 Rat
Click on a value in the shaded box below the category label to view a detailed expression data table for that system.
alimentary part of gastrointestinal system
3
11
49
70
52
63
34
23
34
6
173
83
62
45
53
29
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Ensembl Acc Id:
ENSRNOT00000011699 ⟹ ENSRNOP00000011699
Type:
CODING
Position:
Rat Assembly Chr Position (strand) Source mRatBN7.2 Ensembl 15 31,181,369 - 31,206,810 (-) Ensembl Rnor_6.0 Ensembl 15 37,299,738 - 37,325,178 (-) Ensembl
RefSeq Acc Id:
NM_024376 ⟹ NP_077352
RefSeq Status:
VALIDATED
Type:
CODING
Position:
Rat Assembly Chr Position (strand) Source GRCr8 15 35,296,946 - 35,322,405 (-) NCBI mRatBN7.2 15 31,181,360 - 31,206,820 (-) NCBI Rnor_6.0 15 37,299,723 - 37,325,176 (-) NCBI Rnor_5.0 15 41,146,019 - 41,172,888 (-) NCBI RGSC_v3.4 15 36,052,554 - 36,078,001 (-) RGD Celera 15 30,893,821 - 30,919,252 (-) RGD
Sequence:
GGCGTGGGGCACCAAGTGCGGTGCGTACCGCGGCGGTGGGGATGGCGGCCGGGGCGGAGAAGCCCGGCCCTGGCGCGGGGCGCTCGTGGGAAGAAGGGGCGCCGCACGAGTGAAGAGGGAGCCTCCTT
hide sequence
RefSeq Acc Id:
NP_077352 ⟸ NM_024376
- UniProtKB:
P29414 (UniProtKB/Swiss-Prot), G3V747 (UniProtKB/TrEMBL), A6KHA8 (UniProtKB/TrEMBL)
- Sequence:
MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEEVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWALQIIFVSTPTLIYLGHVLHIVRMEEKKKEREEELLRRDNPQHGRGREPM
hide sequence
Ensembl Acc Id:
ENSRNOP00000011699 ⟸ ENSRNOT00000011699
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
Note Type
Note
Reference
gene_cellular_localization
present at lens fiber junctional maculae
728416
gene_protein
46 kDa
728416
