Gja8 (gap junction protein, alpha 8) - Rat Genome Database

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Gene: Gja8 (gap junction protein, alpha 8) Mus musculus
Analyze
Symbol: Gja8
Name: gap junction protein, alpha 8
RGD ID: 732564
MGI Page MGI
Description: 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 several structures, including eye; testis; and thyroid gland. 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).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Aey; Aey5; alpha 8 connexin; Cnx5; Cnx50; connexin 50; connexin l; connexin-50; Cx50; Cxnl; dcm; gap junction alpha-8 protein; gap junction membrane channel protein alpha 8; lens fiber protein MP70; lens opacity 10; Lo; Lop10
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39396,820,882 - 96,833,367 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl396,820,882 - 96,833,336 (-)EnsemblGRCm39 Ensembl
GRCm38396,913,566 - 96,926,051 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl396,913,566 - 96,926,020 (-)EnsemblGRCm38mm10GRCm38
MGSCv37396,722,945 - 96,729,853 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36397,004,427 - 97,011,335 (-)NCBIMGSCv36mm8
Celera398,326,218 - 98,333,125 (-)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map342.03NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q. Liska F, etal., Mol Vis. 2008 May 7;14:823-8.
2. MGDs mouse GO annotations MGD data from the GO Consortium
3. MGD IEA MGD IEA
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Mouse MP Annotation Import Pipeline RGD automated import pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Shiels A, etal., Am J Hum Genet. 1998 Mar;62(3):526-32.
9. Mapping of A gene responsible for cataract formation and its modifier in the UPL rat. Yamashita S, etal., Invest Ophthalmol Vis Sci 2002 Oct;43(10):3153-9.
Additional References at PubMed
PMID:1325220   PMID:1399425   PMID:6877261   PMID:7940024   PMID:8330621   PMID:8631157   PMID:8666393   PMID:9096102   PMID:9119363   PMID:9371744   PMID:9620080   PMID:9729401  
PMID:9746435   PMID:9813099   PMID:9860964   PMID:9861669   PMID:10099690   PMID:10393059   PMID:10931824   PMID:11395508   PMID:11687537   PMID:11696604   PMID:11753387   PMID:11782410  
PMID:11786642   PMID:11846517   PMID:11875045   PMID:12097863   PMID:12466851   PMID:12477932   PMID:12766071   PMID:12782682   PMID:12808044   PMID:14595769   PMID:14681012   PMID:15081111  
PMID:15253273   PMID:15255617   PMID:15326140   PMID:15452070   PMID:15452195   PMID:15466892   PMID:15677379   PMID:16141072   PMID:16332269   PMID:16611690   PMID:16687738   PMID:16696970  
PMID:16740340   PMID:17003442   PMID:17217947   PMID:17546509   PMID:17688421   PMID:18003700   PMID:18055813   PMID:18462719   PMID:19321662   PMID:19331825   PMID:20844585   PMID:20861491  
PMID:20861565   PMID:20923641   PMID:21267068   PMID:21320072   PMID:21873635   PMID:21965293   PMID:22404924   PMID:22713599   PMID:23300808   PMID:23734214   PMID:24005045   PMID:24194600  
PMID:24204043   PMID:24380846   PMID:25103261   PMID:25260631   PMID:25823610   PMID:26017495   PMID:27281269   PMID:27317663   PMID:27626380   PMID:28552735   PMID:29176738   PMID:29913165  
PMID:30287491   PMID:30562487   PMID:30683901   PMID:30991053   PMID:30995319   PMID:31117126   PMID:31908399   PMID:32182330   PMID:32214786   PMID:32598448   PMID:33036381   PMID:36139360  
PMID:36880430   PMID:38095908  


Genomics

Comparative Map Data
Gja8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39396,820,882 - 96,833,367 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl396,820,882 - 96,833,336 (-)EnsemblGRCm39 Ensembl
GRCm38396,913,566 - 96,926,051 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl396,913,566 - 96,926,020 (-)EnsemblGRCm38mm10GRCm38
MGSCv37396,722,945 - 96,729,853 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36397,004,427 - 97,011,335 (-)NCBIMGSCv36mm8
Celera398,326,218 - 98,333,125 (-)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map342.03NCBI
GJA8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381147,902,795 - 147,914,486 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1147,902,795 - 147,909,269 (+)EnsemblGRCh38hg38GRCh38
GRCh371147,374,921 - 147,381,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361145,841,560 - 145,848,017 (+)NCBINCBI36Build 36hg18NCBI36
Build 341144,599,751 - 144,606,209NCBI
Celera1121,602,609 - 121,609,059 (-)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1120,788,421 - 120,794,871 (+)NCBIHuRef
CHM1_11149,270,946 - 149,277,395 (+)NCBICHM1_1
T2T-CHM13v2.01146,892,371 - 146,904,865 (-)NCBIT2T-CHM13v2.0
Gja8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82187,179,668 - 187,181,284 (-)NCBIGRCr8
mRatBN7.22184,490,840 - 184,492,456 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2184,490,840 - 184,492,456 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2192,132,950 - 192,134,566 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02189,930,874 - 189,932,490 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02184,765,517 - 184,767,133 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02199,050,854 - 199,052,470 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2199,050,854 - 199,052,470 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02218,536,831 - 218,538,447 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2176,986,507 - 176,988,123 (-)NCBICelera
Cytogenetic Map2q34NCBI
Gja8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955568515,113 - 516,435 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955568514,905 - 516,551 (-)NCBIChiLan1.0ChiLan1.0
GJA8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21101,790,607 - 101,799,706 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11101,379,904 - 101,388,145 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01123,352,801 - 123,355,625 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11112,176,580 - 112,183,032 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1112,174,365 - 112,177,893 (-)Ensemblpanpan1.1panPan2
GJA8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11758,360,313 - 58,428,751 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1758,424,072 - 58,425,391 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1757,828,663 - 57,898,680 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01759,356,989 - 59,426,996 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1759,419,303 - 59,425,425 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11758,229,994 - 58,300,020 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01758,290,623 - 58,360,697 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01759,017,265 - 59,087,398 (+)NCBIUU_Cfam_GSD_1.0
Gja8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505820,498,517 - 20,501,991 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936867374,638 - 375,933 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936867374,638 - 378,080 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJA8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl499,723,341 - 99,724,672 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1499,721,754 - 99,724,943 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24109,541,665 - 109,561,100 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GJA8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603814,328,894 - 14,335,477 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gja8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477216,959,615 - 16,960,937 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477216,959,615 - 16,960,937 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Gja8
473 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:132
Count of miRNA genes:126
Interacting mature miRNAs:129
Transcripts:ENSMUST00000062944
Prediction methods:Miranda, Rnahybrid
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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
26884436Zlq3_mzygomatic length QTL 3, 10 week (mouse)33265060142405761Mouse
4142399Aec1_mautoimmune exocrinopathy 1 (mouse)Not determined7586174102690034Mouse
26884427Cvht4_mcranial vault height 4, 10 week (mouse)316054164109707316Mouse
13207570Tcq12_mtotal cholesterol QTL 12 (mouse)316504164130163649Mouse
26884422Cvht7_mcranial vault height 7, 16 week (mouse)328954149118893649Mouse
1302056Orgwq4_morgan weight QTL 4 (mouse)Not determined330067588147304689Mouse
1301705Sles3_msystemic lupus erythmatosus suppressor 3 (mouse)Not determined337174862143353183Mouse
13208566Bmiq5_mbody mass index QTL 5 (mouse)340954435115793649Mouse
26884380Skwq1_mskull length QTL 1, 5 week (mouse)343954435101607316Mouse
26884378Skwq6_mskull length QTL 6, 10 week (mouse)351907421102307316Mouse
26884382Bzwq1_mbi-zygomatic width QTL 1, 5 week (mouse)352207421137205761Mouse
11039519Ltpr3_mLeishmania tropica response 3 (mouse)356704102100464137Mouse
1301971Cia5_mcollagen induced arthritis QTL 5 (mouse)Not determined366046658100046795Mouse
25314313Syncl1_msynaptonemal complex length 1 (mouse)367907333128393649Mouse
11251721Ewc3_methanol withdrawal and consumption 3 (mouse)369568554103568554Mouse
1301791Char4_mP. chabaudi malaria resistance QTL 4 (mouse)Not determined369625509100655290Mouse
1301422Sle11_msystematic lupus erythematosus susceptibility 11 (mouse)Not determined370208904104209042Mouse
11049572Lmr11c_mleishmaniasis resistance 11c (mouse)372139967106140094Mouse
1300982Lmr11_mleishmaniasis resistance 11 (mouse)Not determined372139967106140094Mouse
1300595Tmevd2_mTheiler's murine encephalomyelitis virus induced demyelinating disease susceptibility 2 (mouse)Not determined375463302109463549Mouse
1301392Eae3_msusceptibility to experimental allergic encephalomyelitis 3 (mouse)Not determined379548730113548837Mouse
1301947Pcfm3_mperiosteal circumference and femur length 3 (mouse)Not determined381084652115084797Mouse
1301904Iba2_minduction of brown adipocytes 2 (mouse)Not determined382147043116147184Mouse
11041900Lmr11a_mleishmaniasis resistance 11a (mouse)383463991117464137Mouse
11039510Ltpr3d_mLeishmania tropica response 3d (mouse)383463991117464137Mouse
11039511Ltpr3c_mLeishmania tropica response 3c (mouse)383463991117464137Mouse
11039507Ltpr3g_mLeishmania tropica response 3g (mouse)383463991117464137Mouse
11039508Ltpr3f_mLeishmania tropica response 3f (mouse)383463991117464137Mouse
11039509Ltpr3e_mLeishmania tropica response 3e (mouse)383463991117464137Mouse
11039512Ltpr3b_mLeishmania tropica response 3b (mouse)383463991117464137Mouse
1301272Cfsw1_mcystic fibrosis survival to weaning 1 (mouse)Not determined383882912117883044Mouse
4142099Cq3_mcholesterol QTL 3 (mouse)Not determined384888918118889067Mouse
14746984Manh54_mmandible shape 54 (mouse)385289152119289152Mouse
1357583Sle18_msystematic lupus erythematosus susceptibility 18 (mouse)Not determined387208904125316236Mouse
12738440Twq3_mtestis weight QTL 3 (mouse)387228015121228015Mouse
4142178Ctrq2_mC. trachomatis resistance QTL 2 (mouse)Not determined389139967137453008Mouse
10766455Sle22_msystematic lupus erythematosus susceptibility 22 (mouse)390376936124377072Mouse
14747001Mancz4_mmandible centroid size 4 (mouse)390378017124378017Mouse
1301398Rapop3_mradiation-induced apoptosis 3 (mouse)Not determined390511217100464137Mouse
1302052Etohcta4_methanol conditioned taste aversion 4 (mouse)Not determined391000105125008748Mouse
1301349Pgia26_mproteoglycan induced arthritis 26 (mouse)Not determined392251533126251650Mouse
27226732Tibmd3_mtibia midshaft diameter 3, 10 week (mouse)396607316147805636Mouse

Markers in Region
Gja8  
Mouse AssemblyChrPosition (strand)SourceJBrowse
MGSCv37396,722,464 - 96,722,647UniSTSGRCm37
MGSCv37396,722,845 - 96,724,409UniSTSGRCm37
Celera398,326,118 - 98,327,682UniSTS
Celera398,325,737 - 98,325,920UniSTS
Cytogenetic Map3F2.1UniSTS
cM Map352.7UniSTS
cM Map352.7UniSTS
PMC197251P4  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38396,919,527 - 96,920,342UniSTSGRCm38
MGSCv37396,723,450 - 96,724,265UniSTSGRCm37
Celera398,326,723 - 98,327,538UniSTS
Cytogenetic Map3F2.1UniSTS
Gja8  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38396,918,541 - 96,918,724UniSTSGRCm38
MGSCv37396,722,464 - 96,722,647UniSTSGRCm37
Celera398,325,737 - 98,325,920UniSTS
Cytogenetic Map3F2.1UniSTS
cM Map352.7UniSTS
Gja8  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38396,918,922 - 96,920,486UniSTSGRCm38
MGSCv37396,722,845 - 96,724,409UniSTSGRCm37
Celera398,326,118 - 98,327,682UniSTS
Cytogenetic Map3F2.1UniSTS
cM Map352.7UniSTS


Expression


Sequence


RefSeq Acc Id: ENSMUST00000062944   ⟹   ENSMUSP00000049532
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl396,820,882 - 96,833,336 (-)Ensembl
GRCm38.p6 Ensembl396,913,566 - 96,926,020 (-)Ensembl
RefSeq Acc Id: NM_008123   ⟹   NP_032149
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39396,820,882 - 96,833,367 (-)NCBI
GRCm38396,913,566 - 96,926,051 (-)NCBI
MGSCv37396,722,945 - 96,729,853 (-)RGD
Celera398,320,762 - 98,333,246 (-)NCBI
cM Map3 ENTREZGENE
Sequence:
RefSeq Acc Id: NP_032149   ⟸   NM_008123
- UniProtKB: P28236 (UniProtKB/Swiss-Prot),   Q548M7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSMUSP00000049532   ⟸   ENSMUST00000062944
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28236-F1-model_v2 AlphaFold P28236 1-440 view protein structure

Promoters
RGD ID:6881730
Promoter ID:EPDNEW_M4316
Type:multiple initiation site
Name:Gja8_1
Description:Mus musculus gap junction protein, alpha 8 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38396,925,933 - 96,925,993EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:99953 AgrOrtholog
Ensembl Genes ENSMUSG00000049908 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000062944 ENTREZGENE
  ENSMUST00000062944.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin50 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 mmu:14616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:99953 ENTREZGENE
NCBI Gene 14616 ENTREZGENE
PANTHER PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984:SF19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Gja8 PhenoGen
PRINTS CONNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINA8 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
UniProt CXA8_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q548M7 ENTREZGENE, UniProtKB/TrEMBL