GJA4 (gap junction protein alpha 4) - Rat Genome Database

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Gene: GJA4 (gap junction protein alpha 4) Homo sapiens
Analyze
Symbol: GJA4
Name: gap junction protein alpha 4
RGD ID: 731518
HGNC Page HGNC:4278
Description: Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within blood vessel development. Predicted to be located in gap junction and plasma membrane. Predicted to be part of connexin complex. Implicated in coronary artery disease and myocardial infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: connexin 37; connexin-37; CX37; gap junction alpha-4 protein; gap junction membrane channel protein alpha 4; gap junction protein, alpha 4, 37kDa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC005412.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38134,792,999 - 34,795,747 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl134,792,999 - 34,795,747 (+)EnsemblGRCh38hg38GRCh38
GRCh37135,258,600 - 35,261,348 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36135,031,186 - 35,033,935 (+)NCBINCBI36Build 36hg18NCBI36
Build 34134,927,714 - 34,930,439NCBI
Celera133,532,323 - 33,535,072 (+)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef133,376,201 - 33,378,950 (+)NCBIHuRef
CHM1_1135,374,168 - 35,376,917 (+)NCBICHM1_1
T2T-CHM13v2.0134,655,628 - 34,658,374 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(R)-carnitine  (ISO)
(S)-nicotine  (ISO)
1,2,4-trimethylbenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
7,12-dimethyltetraphene  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
astragaloside IV  (EXP)
atenolol  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (EXP)
bromobenzene  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
carvedilol  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cyclophosphamide  (ISO)
diarsenic trioxide  (ISO)
dioxygen  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
fenvalerate  (ISO)
fonofos  (EXP)
gentamycin  (ISO)
lycopene  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP)
methylparaben  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
oxybenzone  (ISO)
paracetamol  (ISO)
parathion  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
resveratrol  (EXP,ISO)
SCH 23390  (ISO)
sevoflurane  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
terbufos  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
troglitazone  (ISO)
undecane  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Connexins: gaps in our knowledge of vascular function. Figueroa XF, etal., Physiology (Bethesda). 2004 Oct;19:277-84.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Association between C1019T polymorphism of connexin37 and acute myocardial infarction: a study in patients from Sicily. Listi F, etal., Int J Cardiol. 2005 Jul 10;102(2):269-71.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Expression of connexins in the normal and obstructed developing kidney. Silverstein DM, etal., Pediatr Nephrol. 2003 Mar;18(3):216-24. Epub 2003 Feb 7.
7. Do allelic variants of the connexin37 1019 gene polymorphism differentially predict for coronary artery disease and myocardial infarction? Wong CW, etal., Atherosclerosis. 2007 Apr;191(2):355-61. Epub 2006 May 4.
8. Genetic risk for coronary artery disease in individuals with or without type 2 diabetes. Yamada Y, etal., Mol Genet Metab. 2004 Apr;81(4):282-90.
9. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. Yamada Y, etal., N Engl J Med. 2002 Dec 12;347(24):1916-23.
Additional References at PubMed
PMID:1370487   PMID:1688855   PMID:1964417   PMID:2167375   PMID:7680674   PMID:8586454   PMID:8761439   PMID:9020357   PMID:9546360   PMID:9617570   PMID:9843209   PMID:10447790  
PMID:10728596   PMID:11375929   PMID:11744143   PMID:12477932   PMID:14667880   PMID:15167446   PMID:15194487   PMID:15234427   PMID:15481066   PMID:15489334   PMID:15504903   PMID:16361362  
PMID:16710414   PMID:16998253   PMID:17192395   PMID:17196598   PMID:17207965   PMID:17318613   PMID:17418016   PMID:17531234   PMID:17719307   PMID:17785925   PMID:17922338   PMID:17975119  
PMID:18073482   PMID:18605953   PMID:18664489   PMID:18724972   PMID:19023099   PMID:19056482   PMID:19166859   PMID:19282863   PMID:19407064   PMID:19420105   PMID:19478091   PMID:19578796  
PMID:20081116   PMID:20142115   PMID:20452482   PMID:20530971   PMID:20673868   PMID:20705954   PMID:20959880   PMID:21044781   PMID:21172909   PMID:21208019   PMID:21617605   PMID:21810657  
PMID:21873635   PMID:22305353   PMID:22528526   PMID:22648509   PMID:22729648   PMID:22901223   PMID:23724624   PMID:23840749   PMID:23926016   PMID:24261225   PMID:24333099   PMID:24685073  
PMID:24773516   PMID:24937033   PMID:25501978   PMID:26588185   PMID:26656196   PMID:27939333   PMID:28298427   PMID:28397038   PMID:28969560   PMID:29207017   PMID:29247167   PMID:29351227  
PMID:29631604   PMID:30594540   PMID:31580250   PMID:31653176   PMID:32078368   PMID:32272685   PMID:32296183   PMID:33982579   PMID:35642047   PMID:35748244   PMID:35902510   PMID:36209871  
PMID:37072338   PMID:37197981   PMID:37314216   PMID:39175027  


Genomics

Comparative Map Data
GJA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38134,792,999 - 34,795,747 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl134,792,999 - 34,795,747 (+)EnsemblGRCh38hg38GRCh38
GRCh37135,258,600 - 35,261,348 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36135,031,186 - 35,033,935 (+)NCBINCBI36Build 36hg18NCBI36
Build 34134,927,714 - 34,930,439NCBI
Celera133,532,323 - 33,535,072 (+)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef133,376,201 - 33,378,950 (+)NCBIHuRef
CHM1_1135,374,168 - 35,376,917 (+)NCBICHM1_1
T2T-CHM13v2.0134,655,628 - 34,658,374 (+)NCBIT2T-CHM13v2.0
Gja4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394127,205,213 - 127,207,832 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4127,205,214 - 127,207,832 (-)EnsemblGRCm39 Ensembl
GRCm384127,311,420 - 127,314,039 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4127,311,421 - 127,314,039 (-)EnsemblGRCm38mm10GRCm38
MGSCv374126,988,665 - 126,991,222 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364126,813,725 - 126,816,282 (-)NCBIMGSCv36mm8
Celera4125,645,767 - 125,648,324 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map461.47NCBI
Gja4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85144,917,791 - 144,920,324 (-)NCBIGRCr8
mRatBN7.25139,633,324 - 139,635,857 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5139,633,287 - 139,635,925 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5142,328,532 - 142,331,068 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05144,098,526 - 144,101,062 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05144,099,313 - 144,101,849 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05145,374,688 - 145,377,221 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5145,374,690 - 145,377,221 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05149,142,702 - 149,145,235 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45146,755,061 - 146,757,594 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15146,765,101 - 146,767,633 (-)NCBI
Celera5138,127,254 - 138,129,787 (-)NCBICelera
RH 3.4 Map5934.8RGD
Cytogenetic Map5q36NCBI
Gja4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545212,902,773 - 12,905,337 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545212,902,764 - 12,905,337 (+)NCBIChiLan1.0ChiLan1.0
GJA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21192,050,029 - 192,052,939 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11191,171,197 - 191,174,108 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0134,059,901 - 34,063,181 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1135,241,402 - 35,244,191 (+)NCBIpanpan1.1PanPan1.1panPan2
GJA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1157,167,665 - 7,170,388 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gja4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505851,613,628 - 51,616,047 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647417,439,327 - 17,440,331 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647417,439,250 - 17,440,829 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GJA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl691,045,394 - 91,048,162 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1691,045,430 - 91,048,161 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GJA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12098,092,282 - 98,095,036 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2098,092,785 - 98,093,786 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603318,746,427 - 18,749,170 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gja4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476417,836,180 - 17,845,011 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476417,842,566 - 17,845,011 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GJA4
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002060.2(GJA4):c.935C>T (p.Pro312Leu) single nucleotide variant Malignant melanoma [RCV000064738] Chr1:34795148 [GRCh38]
Chr1:35260749 [GRCh37]
Chr1:35033336 [NCBI36]
Chr1:1p34.3		 not provided
GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1 copy number loss See cases [RCV000137966] Chr1:34753938..36055310 [GRCh38]
Chr1:35219539..36520911 [GRCh37]
Chr1:34992126..36293498 [NCBI36]
Chr1:1p34.3		 likely pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1 copy number loss See cases [RCV000448022] Chr1:34830287..36945093 [GRCh37]
Chr1:1p34.3		 pathogenic
GRCh37/hg19 1p34.3(chr1:35259746-35316037)x3 copy number gain See cases [RCV000447810] Chr1:35259746..35316037 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 copy number gain not provided [RCV000748949] Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3		 pathogenic
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys) single nucleotide variant Cutaneous venous malformation [RCV001559133]|Hepatic hemangioma [RCV001559134]|Skin hemangioma [RCV001849501] Chr1:34794334 [GRCh38]
Chr1:35259935 [GRCh37]
Chr1:1p34.3		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_002060.3(GJA4):c.394C>T (p.Arg132Cys) single nucleotide variant not provided [RCV000971843] Chr1:34794607 [GRCh38]
Chr1:35260208 [GRCh37]
Chr1:1p34.3		 benign
NM_002060.3(GJA4):c.772C>T (p.Pro258Ser) single nucleotide variant not provided [RCV000966745] Chr1:34794985 [GRCh38]
Chr1:35260586 [GRCh37]
Chr1:1p34.3		 benign
GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915) copy number loss not provided [RCV000767772] Chr1:32859415..36454915 [GRCh37]
Chr1:1p35.1-34.3		 pathogenic
GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3 copy number gain not provided [RCV000847115] Chr1:34915050..36163162 [GRCh37]
Chr1:1p34.3		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1 copy number loss not provided [RCV002474552] Chr1:35104233..37357913 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_002060.3(GJA4):c.605G>A (p.Arg202His) single nucleotide variant not specified [RCV004245856] Chr1:34794818 [GRCh38]
Chr1:35260419 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.386C>A (p.Ala129Asp) single nucleotide variant not specified [RCV004122647] Chr1:34794599 [GRCh38]
Chr1:35260200 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.439A>G (p.Ile147Val) single nucleotide variant not specified [RCV004150417] Chr1:34794652 [GRCh38]
Chr1:35260253 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.248T>C (p.Leu83Pro) single nucleotide variant not specified [RCV004105444] Chr1:34794461 [GRCh38]
Chr1:35260062 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.611C>T (p.Thr204Met) single nucleotide variant not specified [RCV004213349] Chr1:34794824 [GRCh38]
Chr1:35260425 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.773C>G (p.Pro258Arg) single nucleotide variant not specified [RCV004207789] Chr1:34794986 [GRCh38]
Chr1:35260587 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.53C>T (p.Ser18Leu) single nucleotide variant not specified [RCV004167516] Chr1:34794266 [GRCh38]
Chr1:35259867 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.805G>A (p.Val269Met) single nucleotide variant not specified [RCV004081231] Chr1:34795018 [GRCh38]
Chr1:35260619 [GRCh37]
Chr1:1p34.3		 likely benign
NM_002060.3(GJA4):c.779C>T (p.Thr260Met) single nucleotide variant not specified [RCV004090333] Chr1:34794992 [GRCh38]
Chr1:35260593 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.532G>A (p.Gly178Ser) single nucleotide variant not specified [RCV004248858] Chr1:34794745 [GRCh38]
Chr1:35260346 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.550G>A (p.Val184Met) single nucleotide variant not specified [RCV004262814] Chr1:34794763 [GRCh38]
Chr1:35260364 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.347T>G (p.Leu116Arg) single nucleotide variant not specified [RCV004347940] Chr1:34794560 [GRCh38]
Chr1:35260161 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.419C>T (p.Ala140Val) single nucleotide variant not specified [RCV004345135] Chr1:34794632 [GRCh38]
Chr1:35260233 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.937C>A (p.Pro313Thr) single nucleotide variant not specified [RCV004356630] Chr1:34795150 [GRCh38]
Chr1:35260751 [GRCh37]
Chr1:1p34.3		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_002060.3(GJA4):c.441C>G (p.Ile147Met) single nucleotide variant not specified [RCV004390774] Chr1:34794654 [GRCh38]
Chr1:35260255 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.701G>A (p.Arg234His) single nucleotide variant not specified [RCV004390776] Chr1:34794914 [GRCh38]
Chr1:35260515 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.958C>T (p.Pro320Ser) single nucleotide variant not specified [RCV004390778] Chr1:34795171 [GRCh38]
Chr1:35260772 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.469G>A (p.Ala157Thr) single nucleotide variant not provided [RCV004560377] Chr1:34794682 [GRCh38]
Chr1:35260283 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.698G>A (p.Cys233Tyr) single nucleotide variant not specified [RCV004390775] Chr1:34794911 [GRCh38]
Chr1:35260512 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.82G>T (p.Val28Leu) single nucleotide variant not specified [RCV004390777] Chr1:34794295 [GRCh38]
Chr1:35259896 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.82G>A (p.Val28Met) single nucleotide variant not specified [RCV004627119] Chr1:34794295 [GRCh38]
Chr1:35259896 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.374G>A (p.Arg125Gln) single nucleotide variant not specified [RCV004627117] Chr1:34794587 [GRCh38]
Chr1:35260188 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.229T>C (p.Tyr77His) single nucleotide variant not specified [RCV004627118] Chr1:34794442 [GRCh38]
Chr1:35260043 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.254T>A (p.Val85Asp) single nucleotide variant not specified [RCV004917056] Chr1:34794467 [GRCh38]
Chr1:35260068 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.623T>C (p.Ile208Thr) single nucleotide variant not provided [RCV005052232] Chr1:34794836 [GRCh38]
Chr1:35260437 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.568G>A (p.Ala190Thr) single nucleotide variant not specified [RCV004917058] Chr1:34794781 [GRCh38]
Chr1:35260382 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.692T>C (p.Leu231Pro) single nucleotide variant not specified [RCV004917055] Chr1:34794905 [GRCh38]
Chr1:35260506 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p34.3(chr1:35208698-36530353)x1 copy number loss not provided [RCV004819710] Chr1:35208698..36530353 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.988A>C (p.Lys330Gln) single nucleotide variant not specified [RCV004925517] Chr1:34795201 [GRCh38]
Chr1:35260802 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.358G>T (p.Asp120Tyr) single nucleotide variant not specified [RCV004925518] Chr1:34794571 [GRCh38]
Chr1:35260172 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_002060.3(GJA4):c.58G>A (p.Val20Met) single nucleotide variant not specified [RCV004925516] Chr1:34794271 [GRCh38]
Chr1:35259872 [GRCh37]
Chr1:1p34.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:579
Count of miRNA genes:448
Interacting mature miRNAs:485
Transcripts:ENST00000342280, ENST00000450137
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.

Markers in Region
SHGC-74583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37135,260,817 - 35,261,078UniSTSGRCh37
Build 36135,033,404 - 35,033,665RGDNCBI36
Celera133,534,541 - 33,534,802RGD
Cytogenetic Map1p35.1UniSTS
HuRef133,378,419 - 33,378,680UniSTS
TNG Radiation Hybrid Map116478.0UniSTS
GeneMap99-GB4 RH Map1109.71UniSTS
Whitehead-RH Map1113.0UniSTS
NCBI RH Map1223.3UniSTS
PMC197251P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37135,259,903 - 35,260,228UniSTSGRCh37
Build 36135,032,490 - 35,032,815RGDNCBI36
Celera133,533,627 - 33,533,952RGD
Cytogenetic Map1p35.1UniSTS
HuRef133,377,505 - 33,377,830UniSTS
GJA4_1678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37135,260,594 - 35,261,444UniSTSGRCh37
Build 36135,033,181 - 35,034,031RGDNCBI36
Celera133,534,318 - 33,535,168RGD
HuRef133,378,196 - 33,379,046UniSTS
D1S3523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37135,260,847 - 35,261,019UniSTSGRCh37
Build 36135,033,434 - 35,033,606RGDNCBI36
Celera133,534,571 - 33,534,743RGD
Cytogenetic Map1p35.1UniSTS
HuRef133,378,449 - 33,378,621UniSTS
TNG Radiation Hybrid Map116491.0UniSTS
Stanford-G3 RH Map11636.0UniSTS
GeneMap99-G3 RH Map11906.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2341 2788 2232 4848 1705 2190 4 612 1528 450 2198 6778 6051 16 3665 1 812 1684 1472 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF132674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF139100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF139101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF139102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF139103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF139104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF139105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF180815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF181620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU103361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M96789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000342280   ⟹   ENSP00000343676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl134,792,999 - 34,795,747 (+)Ensembl
Ensembl Acc Id: ENST00000450137   ⟹   ENSP00000409186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl134,792,999 - 34,795,090 (+)Ensembl
RefSeq Acc Id: NM_002060   ⟹   NP_002051
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38134,792,999 - 34,795,747 (+)NCBI
GRCh37135,258,559 - 35,261,351 (+)NCBI
Build 36135,031,186 - 35,033,935 (+)NCBI Archive
HuRef133,376,201 - 33,378,950 (+)ENTREZGENE
CHM1_1135,374,168 - 35,376,917 (+)NCBI
T2T-CHM13v2.0134,655,628 - 34,658,374 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005270750   ⟹   XP_005270807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38134,792,999 - 34,795,747 (+)NCBI
GRCh37135,258,559 - 35,261,351 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001043   ⟹   XP_016856532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38134,792,999 - 34,795,747 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054336000   ⟹   XP_054191975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0134,655,628 - 34,658,374 (+)NCBI
RefSeq Acc Id: XM_054336001   ⟹   XP_054191976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0134,655,754 - 34,658,374 (+)NCBI
RefSeq Acc Id: NP_002051   ⟸   NM_002060
- UniProtKB: Q9UNB1 (UniProtKB/Swiss-Prot),   Q9UNB0 (UniProtKB/Swiss-Prot),   Q9UNA9 (UniProtKB/Swiss-Prot),   Q9UBL1 (UniProtKB/Swiss-Prot),   Q9P106 (UniProtKB/Swiss-Prot),   D3DPR4 (UniProtKB/Swiss-Prot),   A8K698 (UniProtKB/Swiss-Prot),   Q9Y5N7 (UniProtKB/Swiss-Prot),   P35212 (UniProtKB/Swiss-Prot),   Q5JW71 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005270807   ⟸   XM_005270750
- Peptide Label: isoform X1
- UniProtKB: Q9UNB1 (UniProtKB/Swiss-Prot),   Q9UNB0 (UniProtKB/Swiss-Prot),   Q9UNA9 (UniProtKB/Swiss-Prot),   Q9UBL1 (UniProtKB/Swiss-Prot),   Q9P106 (UniProtKB/Swiss-Prot),   D3DPR4 (UniProtKB/Swiss-Prot),   A8K698 (UniProtKB/Swiss-Prot),   Q9Y5N7 (UniProtKB/Swiss-Prot),   P35212 (UniProtKB/Swiss-Prot),   Q5JW71 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856532   ⟸   XM_017001043
- Peptide Label: isoform X1
- UniProtKB: Q9UNB1 (UniProtKB/Swiss-Prot),   Q9UNB0 (UniProtKB/Swiss-Prot),   Q9UNA9 (UniProtKB/Swiss-Prot),   Q9UBL1 (UniProtKB/Swiss-Prot),   Q9P106 (UniProtKB/Swiss-Prot),   D3DPR4 (UniProtKB/Swiss-Prot),   A8K698 (UniProtKB/Swiss-Prot),   Q9Y5N7 (UniProtKB/Swiss-Prot),   P35212 (UniProtKB/Swiss-Prot),   Q5JW71 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000409186   ⟸   ENST00000450137
Ensembl Acc Id: ENSP00000343676   ⟸   ENST00000342280
RefSeq Acc Id: XP_054191975   ⟸   XM_054336000
- Peptide Label: isoform X1
- UniProtKB: Q9UNB1 (UniProtKB/Swiss-Prot),   Q9UNB0 (UniProtKB/Swiss-Prot),   Q9UNA9 (UniProtKB/Swiss-Prot),   Q9UBL1 (UniProtKB/Swiss-Prot),   Q9P106 (UniProtKB/Swiss-Prot),   P35212 (UniProtKB/Swiss-Prot),   D3DPR4 (UniProtKB/Swiss-Prot),   A8K698 (UniProtKB/Swiss-Prot),   Q9Y5N7 (UniProtKB/Swiss-Prot),   Q5JW71 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191976   ⟸   XM_054336001
- Peptide Label: isoform X1
- UniProtKB: Q9UNB1 (UniProtKB/Swiss-Prot),   Q9UNB0 (UniProtKB/Swiss-Prot),   Q9UNA9 (UniProtKB/Swiss-Prot),   Q9UBL1 (UniProtKB/Swiss-Prot),   Q9P106 (UniProtKB/Swiss-Prot),   P35212 (UniProtKB/Swiss-Prot),   D3DPR4 (UniProtKB/Swiss-Prot),   A8K698 (UniProtKB/Swiss-Prot),   Q9Y5N7 (UniProtKB/Swiss-Prot),   Q5JW71 (UniProtKB/TrEMBL)
Protein Domains
Connexin N-terminal   Gap junction protein cysteine-rich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35212-F1-model_v2 AlphaFold P35212 1-333 view protein structure

Promoters
RGD ID:6854920
Promoter ID:EPDNEW_H625
Type:multiple initiation site
Name:GJA4_1
Description:gap junction protein alpha 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38134,792,999 - 34,793,059EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4278 AgrOrtholog
COSMIC GJA4 COSMIC
Ensembl Genes ENSG00000187513 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000342280 ENTREZGENE
  ENST00000342280.5 UniProtKB/Swiss-Prot
  ENST00000450137 ENTREZGENE
  ENST00000450137.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1440.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187513 GTEx
HGNC ID HGNC:4278 ENTREZGENE
Human Proteome Map GJA4 Human Proteome Map
InterPro Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Connexin37 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:2701 UniProtKB/Swiss-Prot
NCBI Gene 2701 ENTREZGENE
OMIM 121012 OMIM
PANTHER GAP JUNCTION ALPHA-4 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11984 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Connexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28689 PharmGKB
PRINTS CONNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CONNEXINA4 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 A8K698 ENTREZGENE
  CXA4_HUMAN UniProtKB/Swiss-Prot
  D3DPR4 ENTREZGENE
  P35212 ENTREZGENE
  Q5JW71 ENTREZGENE, UniProtKB/TrEMBL
  Q9P106 ENTREZGENE
  Q9UBL1 ENTREZGENE
  Q9UNA9 ENTREZGENE
  Q9UNB0 ENTREZGENE
  Q9UNB1 ENTREZGENE
  Q9Y5N7 ENTREZGENE
UniProt Secondary A8K698 UniProtKB/Swiss-Prot
  D3DPR4 UniProtKB/Swiss-Prot
  Q9P106 UniProtKB/Swiss-Prot
  Q9UBL1 UniProtKB/Swiss-Prot
  Q9UNA9 UniProtKB/Swiss-Prot
  Q9UNB0 UniProtKB/Swiss-Prot
  Q9UNB1 UniProtKB/Swiss-Prot
  Q9Y5N7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 GJA4  gap junction protein alpha 4  GJA4  gap junction protein, alpha 4, 37kDa  Symbol and/or name change 5135510 APPROVED