GJA10 (gap junction protein alpha 10) - Rat Genome Database

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Gene: GJA10 (gap junction protein alpha 10) Homo sapiens
Analyze
Symbol: GJA10
Name: gap junction protein alpha 10
RGD ID: 1603289
HGNC Page HGNC:16995
Description: Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within detection of light stimulus involved in visual perception; gamete generation; and synapse assembly. Predicted to be located in plasma membrane. Predicted to be part of connexin complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: connexin 62; connexin-62; CX62; gap junction alpha-10 protein; gap junction protein, alpha 10, 62kDa; RP11-63K6.6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38689,894,469 - 89,896,120 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl689,894,469 - 89,921,760 (+)EnsemblGRCh38hg38GRCh38
GRCh37690,604,188 - 90,605,839 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36690,660,909 - 90,662,540 (+)NCBINCBI36Build 36hg18NCBI36
Celera691,024,729 - 91,026,360 (+)NCBICelera
Cytogenetic Map6q15NCBI
HuRef687,823,568 - 87,825,199 (+)NCBIHuRef
CHM1_1690,701,849 - 90,703,480 (+)NCBICHM1_1
T2T-CHM13v2.0691,106,163 - 91,107,814 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
connexin complex  (IBA,IEA)
gap junction  (IEA)
plasma membrane  (IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12881038   PMID:19773279   PMID:21873635   PMID:22796289   PMID:30021884   PMID:31903119   PMID:32822477   PMID:33961781  


Genomics

Comparative Map Data
GJA10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38689,894,469 - 89,896,120 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl689,894,469 - 89,921,760 (+)EnsemblGRCh38hg38GRCh38
GRCh37690,604,188 - 90,605,839 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36690,660,909 - 90,662,540 (+)NCBINCBI36Build 36hg18NCBI36
Celera691,024,729 - 91,026,360 (+)NCBICelera
Cytogenetic Map6q15NCBI
HuRef687,823,568 - 87,825,199 (+)NCBIHuRef
CHM1_1690,701,849 - 90,703,480 (+)NCBICHM1_1
T2T-CHM13v2.0691,106,163 - 91,107,814 (+)NCBIT2T-CHM13v2.0
Gja10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39432,594,595 - 32,607,382 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl432,596,960 - 32,602,760 (-)EnsemblGRCm39 Ensembl
GRCm38432,600,865 - 32,602,382 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl432,596,960 - 32,602,760 (-)EnsemblGRCm38mm10GRCm38
MGSCv37432,687,840 - 32,689,357 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36432,929,478 - 32,930,995 (-)NCBIMGSCv36mm8
Celera432,348,089 - 32,349,606 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map414.25NCBI
Gja10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8551,787,407 - 51,799,827 (-)NCBIGRCr8
mRatBN7.2546,991,051 - 47,002,902 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl546,992,946 - 46,996,570 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx549,137,140 - 49,138,660 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0550,736,302 - 50,737,822 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0550,681,456 - 50,682,976 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0547,819,484 - 47,841,138 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl547,835,066 - 47,836,586 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0552,423,308 - 52,434,869 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4548,900,601 - 48,902,121 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1548,900,779 - 48,920,511 (-)NCBI
Celera545,756,256 - 45,757,776 (-)NCBICelera
Cytogenetic Map5q21NCBI
Gja10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541116,593,576 - 16,595,042 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541116,586,673 - 16,601,999 (+)NCBIChiLan1.0ChiLan1.0
GJA10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25109,979,746 - 109,981,397 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16107,880,882 - 107,882,533 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0687,774,889 - 87,776,520 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1691,046,601 - 91,048,232 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl691,046,601 - 91,072,335 (+)Ensemblpanpan1.1panPan2
GJA10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11249,075,169 - 49,099,146 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1249,092,747 - 49,097,743 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1248,881,931 - 48,905,866 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01249,884,482 - 49,908,390 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1249,902,078 - 49,907,050 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11249,199,389 - 49,223,286 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01249,100,131 - 49,124,052 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01249,292,484 - 49,316,411 (+)NCBIUU_Cfam_GSD_1.0
Gja10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494684,077,686 - 84,079,313 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365102,379,892 - 2,395,851 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365102,380,114 - 2,395,781 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJA10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl157,868,387 - 57,893,687 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1157,879,740 - 57,881,395 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2164,826,657 - 64,828,312 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GJA10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11314,646,091 - 14,716,787 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1314,651,295 - 14,652,926 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040191,033,170 - 191,041,842 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gja10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247994,278,097 - 4,279,588 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GJA10
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1
pathogenic
NM_032602.1(GJA10):c.37G>A (p.Glu13Lys) single nucleotide variant Malignant melanoma [RCV000067505] Chr6:89894505 [GRCh38]
Chr6:90604224 [GRCh37]
Chr6:90660945 [NCBI36]
Chr6:6q15
not provided
NM_032602.1(GJA10):c.180T>C (p.Gly60=) single nucleotide variant Malignant melanoma [RCV000067506] Chr6:89894648 [GRCh38]
Chr6:90604367 [GRCh37]
Chr6:90661088 [NCBI36]
Chr6:6q15
not provided
NM_032602.1(GJA10):c.554C>T (p.Pro185Leu) single nucleotide variant Malignant melanoma [RCV000067507] Chr6:89895022 [GRCh38]
Chr6:90604741 [GRCh37]
Chr6:90661462 [NCBI36]
Chr6:6q15
not provided
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1
pathogenic
GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1 copy number loss See cases [RCV000135450] Chr6:85804273..93189258 [GRCh38]
Chr6:86513991..93898976 [GRCh37]
Chr6:86570710..93955697 [NCBI36]
Chr6:6q14.3-16.1
pathogenic
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 copy number loss See cases [RCV000136757] Chr6:85370716..90669793 [GRCh38]
Chr6:86080434..91379512 [GRCh37]
Chr6:86137153..91436233 [NCBI36]
Chr6:6q14.3-15
pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q15(chr6:89339079-92096042)x3 copy number gain See cases [RCV000142031] Chr6:89339079..92096042 [GRCh38]
Chr6:90048798..92805760 [GRCh37]
Chr6:90105517..92862481 [NCBI36]
Chr6:6q15
uncertain significance
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1
pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q15-16.1(chr6:89941373-95634177)x3 copy number gain See cases [RCV000511573] Chr6:89941373..95634177 [GRCh37]
Chr6:6q15-16.1
likely benign
NM_032602.2(GJA10):c.552C>A (p.His184Gln) single nucleotide variant not specified [RCV004290559] Chr6:89895020 [GRCh38]
Chr6:90604739 [GRCh37]
Chr6:6q15
uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1
pathogenic
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q15(chr6:90296588-90646226)x3 copy number gain not provided [RCV000745905] Chr6:90296588..90646226 [GRCh37]
Chr6:6q15
benign
GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1 copy number loss not provided [RCV000848967] Chr6:87627836..93698486 [GRCh37]
Chr6:6q14.3-16.1
uncertain significance
GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3 copy number gain not provided [RCV000849950] Chr6:88783642..96282103 [GRCh37]
Chr6:6q15-16.1
uncertain significance
GRCh37/hg19 6q15(chr6:90108876-90806063)x3 copy number gain not provided [RCV001005830] Chr6:90108876..90806063 [GRCh37]
Chr6:6q15
uncertain significance
GRCh37/hg19 6q15(chr6:90085893-90910484)x3 copy number gain not provided [RCV001259391] Chr6:90085893..90910484 [GRCh37]
Chr6:6q15
uncertain significance
GRCh37/hg19 6q15(chr6:90285430-90706261)x3 copy number gain not provided [RCV001259392] Chr6:90285430..90706261 [GRCh37]
Chr6:6q15
uncertain significance
NC_000006.11:g.(?_90518279)_(91296602_?)dup duplication not provided [RCV001339947] Chr6:90518279..91296602 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.190A>T (p.Ile64Phe) single nucleotide variant not specified [RCV004327035] Chr6:89894658 [GRCh38]
Chr6:90604377 [GRCh37]
Chr6:6q15
uncertain significance
GRCh37/hg19 6q15-16.1(chr6:90008961-93761490)x1 copy number loss not provided [RCV001832990] Chr6:90008961..93761490 [GRCh37]
Chr6:6q15-16.1
uncertain significance
GRCh37/hg19 6q15(chr6:90189085-90697359) copy number gain not specified [RCV002053597] Chr6:90189085..90697359 [GRCh37]
Chr6:6q15
uncertain significance
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1
pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1
uncertain significance
NM_032602.2(GJA10):c.1025G>T (p.Gly342Val) single nucleotide variant not specified [RCV004239345] Chr6:89895493 [GRCh38]
Chr6:90605212 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1549G>A (p.Asp517Asn) single nucleotide variant not specified [RCV004234788] Chr6:89896017 [GRCh38]
Chr6:90605736 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1590T>G (p.Asp530Glu) single nucleotide variant not specified [RCV004205649] Chr6:89896058 [GRCh38]
Chr6:90605777 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.505G>A (p.Val169Ile) single nucleotide variant not specified [RCV004229905] Chr6:89894973 [GRCh38]
Chr6:90604692 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.169C>T (p.Arg57Trp) single nucleotide variant not specified [RCV004102798] Chr6:89894637 [GRCh38]
Chr6:90604356 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1364G>A (p.Ser455Asn) single nucleotide variant not specified [RCV004108457] Chr6:89895832 [GRCh38]
Chr6:90605551 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1288G>A (p.Ala430Thr) single nucleotide variant not specified [RCV004183444] Chr6:89895756 [GRCh38]
Chr6:90605475 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1270C>T (p.Arg424Cys) single nucleotide variant not specified [RCV004074430] Chr6:89895738 [GRCh38]
Chr6:90605457 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.925A>G (p.Arg309Gly) single nucleotide variant not specified [RCV004086315] Chr6:89895393 [GRCh38]
Chr6:90605112 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1238T>A (p.Met413Lys) single nucleotide variant not specified [RCV004207352] Chr6:89895706 [GRCh38]
Chr6:90605425 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.170G>A (p.Arg57Gln) single nucleotide variant not specified [RCV004195286] Chr6:89894638 [GRCh38]
Chr6:90604357 [GRCh37]
Chr6:6q15
likely benign
NM_032602.2(GJA10):c.428G>A (p.Arg143Lys) single nucleotide variant not specified [RCV004147903] Chr6:89894896 [GRCh38]
Chr6:90604615 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1283G>T (p.Arg428Leu) single nucleotide variant not specified [RCV004244399] Chr6:89895751 [GRCh38]
Chr6:90605470 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.599G>A (p.Cys200Tyr) single nucleotide variant not specified [RCV004118624] Chr6:89895067 [GRCh38]
Chr6:90604786 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.623A>C (p.Lys208Thr) single nucleotide variant not specified [RCV004105059] Chr6:89895091 [GRCh38]
Chr6:90604810 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1030G>C (p.Ala344Pro) single nucleotide variant not specified [RCV004263929] Chr6:89895498 [GRCh38]
Chr6:90605217 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.902C>G (p.Thr301Ser) single nucleotide variant not specified [RCV004274726] Chr6:89895370 [GRCh38]
Chr6:90605089 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1138T>A (p.Ser380Thr) single nucleotide variant not specified [RCV004276359] Chr6:89895606 [GRCh38]
Chr6:90605325 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1469A>G (p.Glu490Gly) single nucleotide variant not specified [RCV004268777] Chr6:89895937 [GRCh38]
Chr6:90605656 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1358G>A (p.Arg453Gln) single nucleotide variant not specified [RCV004249374] Chr6:89895826 [GRCh38]
Chr6:90605545 [GRCh37]
Chr6:6q15
likely benign
NM_032602.2(GJA10):c.164A>G (p.Asn55Ser) single nucleotide variant not specified [RCV004272094] Chr6:89894632 [GRCh38]
Chr6:90604351 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.518T>C (p.Ile173Thr) single nucleotide variant not specified [RCV004266313] Chr6:89894986 [GRCh38]
Chr6:90604705 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.713T>C (p.Ile238Thr) single nucleotide variant not specified [RCV004261722] Chr6:89895181 [GRCh38]
Chr6:90604900 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1460C>T (p.Pro487Leu) single nucleotide variant not specified [RCV004333939] Chr6:89895928 [GRCh38]
Chr6:90605647 [GRCh37]
Chr6:6q15
likely benign
NM_032602.2(GJA10):c.1307T>G (p.Leu436Trp) single nucleotide variant not specified [RCV004336018] Chr6:89895775 [GRCh38]
Chr6:90605494 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.199G>A (p.Asp67Asn) single nucleotide variant not specified [RCV004343049] Chr6:89894667 [GRCh38]
Chr6:90604386 [GRCh37]
Chr6:6q15
uncertain significance
GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1 copy number loss not provided [RCV003482926] Chr6:88018122..94565168 [GRCh37]
Chr6:6q15-16.1
pathogenic
NM_032602.2(GJA10):c.943C>T (p.Pro315Ser) single nucleotide variant not provided [RCV003428896] Chr6:89895411 [GRCh38]
Chr6:90605130 [GRCh37]
Chr6:6q15
likely benign
NM_032602.2(GJA10):c.1477C>T (p.Gln493Ter) single nucleotide variant not provided [RCV003428897] Chr6:89895945 [GRCh38]
Chr6:90605664 [GRCh37]
Chr6:6q15
likely benign
GRCh37/hg19 6q15(chr6:90131062-90675512)x3 copy number gain not specified [RCV003986672] Chr6:90131062..90675512 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1141T>C (p.Phe381Leu) single nucleotide variant not specified [RCV004390756] Chr6:89895609 [GRCh38]
Chr6:90605328 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.304G>C (p.Ala102Pro) single nucleotide variant not specified [RCV004390761] Chr6:89894772 [GRCh38]
Chr6:90604491 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1018T>A (p.Trp340Arg) single nucleotide variant not specified [RCV004390755] Chr6:89895486 [GRCh38]
Chr6:90605205 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.392T>A (p.Ile131Lys) single nucleotide variant not specified [RCV004390762] Chr6:89894860 [GRCh38]
Chr6:90604579 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.532C>T (p.Leu178Phe) single nucleotide variant not specified [RCV004390763] Chr6:89895000 [GRCh38]
Chr6:90604719 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.847C>T (p.Leu283Phe) single nucleotide variant not specified [RCV004390765] Chr6:89895315 [GRCh38]
Chr6:90605034 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.98G>A (p.Arg33Gln) single nucleotide variant not specified [RCV004390768] Chr6:89894566 [GRCh38]
Chr6:90604285 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.842C>G (p.Ser281Cys) single nucleotide variant not specified [RCV004390764] Chr6:89895310 [GRCh38]
Chr6:90605029 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.906G>A (p.Met302Ile) single nucleotide variant not specified [RCV004390766] Chr6:89895374 [GRCh38]
Chr6:90605093 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1403C>T (p.Ser468Leu) single nucleotide variant not specified [RCV004390758] Chr6:89895871 [GRCh38]
Chr6:90605590 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.187A>G (p.Asn63Asp) single nucleotide variant not specified [RCV004390760] Chr6:89894655 [GRCh38]
Chr6:90604374 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1623C>A (p.Phe541Leu) single nucleotide variant not specified [RCV004390759] Chr6:89896091 [GRCh38]
Chr6:90605810 [GRCh37]
Chr6:6q15
uncertain significance
NC_000006.11:g.(?_90518279)_(91296602_?)del deletion not provided [RCV004578882] Chr6:90518279..91296602 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.593T>G (p.Val198Gly) single nucleotide variant not specified [RCV004627106] Chr6:89895061 [GRCh38]
Chr6:90604780 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.486G>T (p.Leu162Phe) single nucleotide variant not specified [RCV004627107] Chr6:89894954 [GRCh38]
Chr6:90604673 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.275A>G (p.Tyr92Cys) single nucleotide variant not specified [RCV004627108] Chr6:89894743 [GRCh38]
Chr6:90604462 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.1271G>A (p.Arg424His) single nucleotide variant not specified [RCV004627109] Chr6:89895739 [GRCh38]
Chr6:90605458 [GRCh37]
Chr6:6q15
likely benign
NM_032602.2(GJA10):c.1076G>A (p.Gly359Asp) single nucleotide variant not specified [RCV004627110] Chr6:89895544 [GRCh38]
Chr6:90605263 [GRCh37]
Chr6:6q15
uncertain significance
NM_032602.2(GJA10):c.658G>C (p.Ala220Pro) single nucleotide variant not specified [RCV004627111] Chr6:89895126 [GRCh38]
Chr6:90604845 [GRCh37]
Chr6:6q15
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:68
Count of miRNA genes:67
Interacting mature miRNAs:67
Transcripts:ENST00000369352
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 (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298426BFD3_HBody fluid distribution QTL 3 (human)2.790.01Body fluid distributionimpedance ratio684873647110873647Human

Markers in Region
CX62_4660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,605,067 - 90,605,899UniSTSGRCh37
Build 36690,661,788 - 90,662,620RGDNCBI36
Celera691,025,608 - 91,026,440RGD
HuRef687,824,447 - 87,825,279UniSTS
UniSTS:484070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37690,604,188 - 90,605,819UniSTSGRCh37
Celera691,024,729 - 91,026,360UniSTS
HuRef687,823,568 - 87,825,199UniSTS


Expression

RNA-SEQ Expression

adipose tissue
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
53 274 207 122 734 181 178 63 169 51 209 594 483 3 552 49 518 107 13

Sequence


Ensembl Acc Id: ENST00000369352   ⟹   ENSP00000358358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,894,469 - 89,896,120 (+)Ensembl
Ensembl Acc Id: ENST00000458201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,920,196 - 89,921,760 (+)Ensembl
Ensembl Acc Id: ENST00000638915   ⟹   ENSP00000492666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl689,894,469 - 89,921,163 (+)Ensembl
RefSeq Acc Id: NM_032602   ⟹   NP_115991
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38689,894,469 - 89,896,120 (+)NCBI
GRCh37690,604,188 - 90,605,819 (+)RGD
Build 36690,660,909 - 90,662,540 (+)NCBI Archive
Celera691,024,729 - 91,026,360 (+)RGD
HuRef687,823,568 - 87,825,199 (+)RGD
CHM1_1690,701,849 - 90,703,480 (+)NCBI
T2T-CHM13v2.0691,106,163 - 91,107,814 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_115991 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAK51676 (Get FASTA)   NCBI Sequence Viewer  
  CAC93847 (Get FASTA)   NCBI Sequence Viewer  
  EAW48537 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000358358
  ENSP00000358358.1
  ENSP00000492666.1
  ENSP00000500523.1
  ENSP00000500643.1
GenBank Protein Q969M2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_115991   ⟸   NM_032602
- UniProtKB: Q969M2 (UniProtKB/Swiss-Prot),   A0A654ICQ6 (UniProtKB/TrEMBL),   A0A1W2PS75 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000492666   ⟸   ENST00000638915
Ensembl Acc Id: ENSP00000358358   ⟸   ENST00000369352
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969M2-F1-model_v2 AlphaFold Q969M2 1-543 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16995 AgrOrtholog
COSMIC GJA10 COSMIC
Ensembl Genes ENSG00000135355 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288435 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000369352 ENTREZGENE
  ENST00000369352.1 UniProtKB/Swiss-Prot
  ENST00000638915.1 UniProtKB/TrEMBL
  ENST00000672086.1 UniProtKB/Swiss-Prot
  ENST00000672799.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135355 GTEx
  ENSG00000288435 GTEx
HGNC ID HGNC:16995 ENTREZGENE
Human Proteome Map GJA10 Human Proteome Map
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 hsa:84694 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84694 ENTREZGENE
OMIM 611924 OMIM
PANTHER GAP JUNCTION ALPHA-10 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164741581 PharmGKB
PRINTS CONNEXIN 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 A0A1W2PS75 ENTREZGENE, UniProtKB/TrEMBL
  A0A654ICQ6 ENTREZGENE, UniProtKB/TrEMBL
  CXA10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GJA10  gap junction protein alpha 10  GJA10  gap junction protein, alpha 10, 62kDa  Symbol and/or name change 5135510 APPROVED