ITGA6 (integrin subunit alpha 6) - Rat Genome Database

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Gene: ITGA6 (integrin subunit alpha 6) Homo sapiens
Analyze
Symbol: ITGA6
Name: integrin subunit alpha 6
RGD ID: 731429
HGNC Page HGNC
Description: Enables insulin-like growth factor I binding activity and neuregulin binding activity. Involved in several processes, including nail development; positive regulation of cellular metabolic process; and skin morphogenesis. Acts upstream of or within positive regulation of apoptotic process. Located in cell surface and plasma membrane. Implicated in junctional epidermolysis bullosa and junctional epidermolysis bullosa with pyloric atresia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD49 antigen-like family member F; CD49f; DKFZp686J01244; FLJ18737; integrin alpha 6; integrin alpha-6; integrin alpha6B; integrin, alpha 6; ITGA6B; VLA-6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2172,427,354 - 172,506,459 (+)EnsemblGRCh38hg38GRCh38
GRCh382172,427,336 - 172,506,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372173,292,064 - 173,371,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362173,000,560 - 173,079,427 (+)NCBINCBI36hg18NCBI36
Build 342173,117,876 - 173,196,509NCBI
Celera2166,905,512 - 166,984,375 (+)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2165,170,787 - 165,249,645 (+)NCBIHuRef
CHM1_12173,299,492 - 173,378,361 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methoxyethanol  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (EXP)
4-tert-Octylphenol  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
arachidonic acid  (EXP)
aristolochic acid  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
benzoates  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calciol  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diazepam  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
eugenol  (EXP)
fenamidone  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fonofos  (EXP)
hydrogen peroxide  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lead nitrate  (ISO)
losartan  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP,ISO)
methylmercury chloride  (EXP)
mifepristone  (EXP)
ML-7  (EXP)
morusin  (EXP)
N-nitrosodiethylamine  (ISO)
nitrofen  (ISO)
ozone  (EXP)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
parathion  (EXP)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
progesterone  (EXP)
quercetin  (EXP)
riddelliine  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
Tanshinone I  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiophenes  (EXP)
titanium dioxide  (ISO)
triacsin C  (EXP)
tributylstannane  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
Y-27632  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1476731   PMID:1690718   PMID:1693624   PMID:1946438   PMID:1976638   PMID:2070796   PMID:2138612   PMID:2542022   PMID:2649503   PMID:2967289   PMID:7556090   PMID:7583007  
PMID:7629079   PMID:7681434   PMID:8163531   PMID:8253814   PMID:8360143   PMID:8496190   PMID:8631745   PMID:8757325   PMID:8760366   PMID:8838570   PMID:9158140   PMID:9164866  
PMID:9360995   PMID:9360996   PMID:9425259   PMID:9500991   PMID:9660880   PMID:10094488   PMID:10477615   PMID:10525545   PMID:10637308   PMID:10657249   PMID:10671376   PMID:10711425  
PMID:10713718   PMID:10811835   PMID:11238109   PMID:11251584   PMID:11359780   PMID:11389095   PMID:11479315   PMID:11684709   PMID:11728829   PMID:11739652   PMID:11809527   PMID:11852236  
PMID:11861761   PMID:11884516   PMID:11959811   PMID:11988844   PMID:12033289   PMID:12105188   PMID:12364323   PMID:12397374   PMID:12429829   PMID:12477932   PMID:12482924   PMID:12499048  
PMID:12584562   PMID:12791251   PMID:12802069   PMID:12826661   PMID:12883474   PMID:12909644   PMID:12919677   PMID:12931024   PMID:14517202   PMID:14602071   PMID:14607975   PMID:14707725  
PMID:15161909   PMID:15194479   PMID:15302884   PMID:15361064   PMID:15466886   PMID:15557282   PMID:15579904   PMID:15679046   PMID:15840729   PMID:15885076   PMID:15897878   PMID:15983209  
PMID:16228294   PMID:16258729   PMID:16263699   PMID:16339173   PMID:16344560   PMID:16424229   PMID:16436605   PMID:16504015   PMID:16537545   PMID:16571677   PMID:16581764   PMID:16732726  
PMID:16757171   PMID:16870608   PMID:16940506   PMID:16965770   PMID:16973601   PMID:17085437   PMID:17170699   PMID:17192395   PMID:17303120   PMID:17332515   PMID:17452356   PMID:17475774  
PMID:17652716   PMID:17935134   PMID:17979890   PMID:18155160   PMID:18270579   PMID:18436868   PMID:18451146   PMID:18550570   PMID:18614994   PMID:18687805   PMID:18814027   PMID:18818395  
PMID:18831072   PMID:18842099   PMID:18958175   PMID:18971471   PMID:18974120   PMID:19107504   PMID:19124484   PMID:19130304   PMID:19138983   PMID:19242489   PMID:19364818   PMID:19491258  
PMID:19579970   PMID:19586553   PMID:19767753   PMID:19775453   PMID:19808905   PMID:19827952   PMID:19933311   PMID:20301304   PMID:20301336   PMID:20432448   PMID:20441998   PMID:20452317  
PMID:20485444   PMID:20508204   PMID:20563599   PMID:20564319   PMID:20628624   PMID:20682778   PMID:20695903   PMID:20855525   PMID:20878950   PMID:20927591   PMID:21115897   PMID:21182210  
PMID:21195710   PMID:21310825   PMID:21359644   PMID:21388972   PMID:21423176   PMID:21474814   PMID:21518455   PMID:21558389   PMID:21752283   PMID:21799154   PMID:21832049   PMID:21880726  
PMID:21969027   PMID:22049212   PMID:22295105   PMID:22311737   PMID:22328509   PMID:22351760   PMID:22389315   PMID:22396498   PMID:22493440   PMID:22514625   PMID:22592262   PMID:22658674  
PMID:22684562   PMID:22843693   PMID:23045288   PMID:23070965   PMID:23071680   PMID:23071686   PMID:23106339   PMID:23154389   PMID:23233446   PMID:23306848   PMID:23333304   PMID:23436775  
PMID:23496044   PMID:23499737   PMID:23611113   PMID:23658023   PMID:23708747   PMID:24015244   PMID:24022922   PMID:24042193   PMID:24056178   PMID:24091622   PMID:24180592   PMID:24227711  
PMID:24289209   PMID:24304619   PMID:24362527   PMID:24375374   PMID:24403311   PMID:24418536   PMID:24564203   PMID:24681327   PMID:24739392   PMID:24802970   PMID:24860089   PMID:24955499  
PMID:24982892   PMID:25288800   PMID:25318615   PMID:25450398   PMID:25468996   PMID:25472585   PMID:25561492   PMID:25808196   PMID:25825984   PMID:25858144   PMID:25911094   PMID:26013602  
PMID:26108791   PMID:26121317   PMID:26186194   PMID:26239765   PMID:26350464   PMID:26381405   PMID:26496610   PMID:26638075   PMID:26674523   PMID:26749288   PMID:26895101   PMID:26930028  
PMID:26992919   PMID:26996297   PMID:27001172   PMID:27107458   PMID:27155928   PMID:27509031   PMID:27535718   PMID:27562932   PMID:27624978   PMID:27641064   PMID:27763564   PMID:27773610  
PMID:27880917   PMID:27922761   PMID:28036265   PMID:28131812   PMID:28134816   PMID:28319085   PMID:28494186   PMID:28514442   PMID:28522907   PMID:28656629   PMID:28692057   PMID:28716111  
PMID:28795417   PMID:28873464   PMID:28926098   PMID:28972104   PMID:29117863   PMID:29180619   PMID:29395067   PMID:29416013   PMID:29507755   PMID:29568061   PMID:29573114   PMID:29755126  
PMID:29976561   PMID:30010110   PMID:30021884   PMID:30024968   PMID:30076704   PMID:30097533   PMID:30194290   PMID:30536996   PMID:30631154   PMID:30639242   PMID:30772768   PMID:30894280  
PMID:30922568   PMID:31056421   PMID:31175464   PMID:31257410   PMID:31300519   PMID:31409574   PMID:31536960   PMID:31541017   PMID:31789389   PMID:31819166   PMID:31914171   PMID:32107949  
PMID:32176716   PMID:32187533   PMID:32210347   PMID:32219444   PMID:32409323   PMID:32460013   PMID:32513696   PMID:32602654   PMID:33099569   PMID:33845483   PMID:34079125  


Genomics

Comparative Map Data
ITGA6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2172,427,354 - 172,506,459 (+)EnsemblGRCh38hg38GRCh38
GRCh382172,427,336 - 172,506,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372173,292,064 - 173,371,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362173,000,560 - 173,079,427 (+)NCBINCBI36hg18NCBI36
Build 342173,117,876 - 173,196,509NCBI
Celera2166,905,512 - 166,984,375 (+)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2165,170,787 - 165,249,645 (+)NCBIHuRef
CHM1_12173,299,492 - 173,378,361 (+)NCBICHM1_1
Itga6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39271,617,236 - 71,688,771 (+)NCBIGRCm39mm39
GRCm39 Ensembl271,575,960 - 71,688,760 (+)Ensembl
GRCm38271,786,886 - 71,858,427 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl271,745,616 - 71,858,416 (+)EnsemblGRCm38mm10GRCm38
MGSCv37271,625,140 - 71,694,815 (+)NCBIGRCm37mm9NCBIm37
MGSCv36271,587,922 - 71,657,597 (+)NCBImm8
Celera273,459,136 - 73,529,018 (+)NCBICelera
Cytogenetic Map2C2- C3NCBI
cM Map242.79NCBI
Itga6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2356,604,512 - 56,689,428 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl356,617,268 - 56,689,428 (+)Ensembl
Rnor_6.0358,442,904 - 58,515,124 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl358,443,101 - 58,515,124 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0364,931,497 - 65,003,370 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4354,202,931 - 54,272,803 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1354,134,160 - 54,168,913 (+)NCBI
Celera356,160,628 - 56,232,455 (+)NCBICelera
Cytogenetic Map3q23NCBI
Itga6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554492,590,982 - 2,665,887 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554492,590,982 - 2,665,887 (-)NCBIChiLan1.0ChiLan1.0
ITGA6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B177,170,403 - 177,250,143 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B177,169,536 - 177,250,143 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B59,714,348 - 59,794,762 (+)NCBIMhudiblu_PPA_v0panPan3
ITGA6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13616,777,363 - 16,858,725 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3616,776,863 - 16,855,449 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3616,785,197 - 16,866,824 (+)NCBI
ROS_Cfam_1.03616,905,162 - 16,986,937 (+)NCBI
UMICH_Zoey_3.13616,986,386 - 17,068,144 (+)NCBI
UNSW_CanFamBas_1.03616,986,485 - 17,068,268 (+)NCBI
UU_Cfam_GSD_1.03617,090,246 - 17,171,774 (+)NCBI
Itga6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303133,954,547 - 134,033,740 (+)NCBI
SpeTri2.0NW_0049365092,508,446 - 2,587,643 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGA6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1578,504,078 - 78,591,779 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11578,504,108 - 78,591,779 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21587,830,665 - 87,901,323 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ITGA6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11057,933,434 - 58,013,152 (+)NCBI
ChlSab1.1 Ensembl1057,933,535 - 58,014,170 (+)Ensembl
Vero_WHO_p1.0NW_023666040141,543,773 - 141,623,138 (-)NCBI
Itga6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247879,821,802 - 9,903,851 (+)NCBI

Position Markers
RH48692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372173,355,967 - 173,356,094UniSTSGRCh37
Build 362173,064,213 - 173,064,340RGDNCBI36
Celera2166,969,162 - 166,969,289RGD
Cytogenetic Map2q31.1UniSTS
HuRef2165,234,434 - 165,234,561UniSTS
GeneMap99-GB4 RH Map2565.23UniSTS
NCBI RH Map21352.7UniSTS
RH98245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372173,370,640 - 173,370,817UniSTSGRCh37
Build 362173,078,886 - 173,079,063RGDNCBI36
Celera2166,983,834 - 166,984,011RGD
Cytogenetic Map2q31.1UniSTS
HuRef2165,249,104 - 165,249,281UniSTS
GeneMap99-GB4 RH Map2558.96UniSTS
SHGC-84040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372173,349,958 - 173,350,229UniSTSGRCh37
Build 362173,058,204 - 173,058,475RGDNCBI36
Celera2166,963,153 - 166,963,424RGD
Cytogenetic Map2q31.1UniSTS
HuRef2165,228,425 - 165,228,696UniSTS
TNG Radiation Hybrid Map295850.0UniSTS
G62018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372173,369,144 - 173,369,254UniSTSGRCh37
Build 362173,077,390 - 173,077,500RGDNCBI36
Celera2166,982,338 - 166,982,448RGD
Cytogenetic Map2q31.1UniSTS
HuRef2165,247,608 - 165,247,718UniSTS
RH69051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372173,338,603 - 173,338,762UniSTSGRCh37
Build 362173,046,849 - 173,047,008RGDNCBI36
Celera2166,951,798 - 166,951,957RGD
Cytogenetic Map2q31.1UniSTS
HuRef2165,217,070 - 165,217,229UniSTS
GeneMap99-GB4 RH Map2567.7UniSTS
NCBI RH Map21352.7UniSTS
SHGC-12676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372173,370,052 - 173,370,372UniSTSGRCh37
Build 362173,078,298 - 173,078,618RGDNCBI36
Celera2166,983,246 - 166,983,566RGD
Cytogenetic Map2q31.1UniSTS
HuRef2165,248,516 - 165,248,836UniSTS
TNG Radiation Hybrid Map295865.0UniSTS
Stanford-G3 RH Map26956.0UniSTS
NCBI RH Map21352.7UniSTS
GeneMap99-G3 RH Map27811.0UniSTS
G13288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372173,370,723 - 173,370,817UniSTSGRCh37
Build 362173,078,969 - 173,079,063RGDNCBI36
Celera2166,983,917 - 166,984,011RGD
Cytogenetic Map2q31.1UniSTS
HuRef2165,249,187 - 165,249,281UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5690
Count of miRNA genes:1021
Interacting mature miRNAs:1271
Transcripts:ENST00000264106, ENST00000264107, ENST00000343713, ENST00000375221, ENST00000409080, ENST00000409532, ENST00000412899, ENST00000416789, ENST00000442250, ENST00000458358, ENST00000469534, ENST00000470259, ENST00000475302, ENST00000497107
Prediction methods:Microtar, 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.


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 2 1
Medium 2296 1470 1053 319 622 161 3715 1608 2060 402 1328 1563 170 1203 2151 4
Low 139 1484 670 303 1251 303 641 584 1646 17 126 45 2 1 1 637 2
Below cutoff 1 35 3 2 66 1 3 24 3 3 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF401206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG180469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA760250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB457895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ858220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S52135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264107   ⟹   ENSP00000264107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,427,668 - 172,506,258 (+)Ensembl
RefSeq Acc Id: ENST00000409080   ⟹   ENSP00000386896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,427,586 - 172,506,459 (+)Ensembl
RefSeq Acc Id: ENST00000409532   ⟹   ENSP00000386614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,427,418 - 172,504,534 (+)Ensembl
RefSeq Acc Id: ENST00000412899   ⟹   ENSP00000413470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,427,354 - 172,474,977 (+)Ensembl
RefSeq Acc Id: ENST00000416789   ⟹   ENSP00000388435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,487,962 - 172,504,328 (+)Ensembl
RefSeq Acc Id: ENST00000442250   ⟹   ENSP00000406694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,427,586 - 172,506,459 (+)Ensembl
RefSeq Acc Id: ENST00000458358   ⟹   ENSP00000394169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,427,789 - 172,504,252 (+)Ensembl
RefSeq Acc Id: ENST00000469534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,488,005 - 172,489,928 (+)Ensembl
RefSeq Acc Id: ENST00000470259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,490,792 - 172,491,254 (+)Ensembl
RefSeq Acc Id: ENST00000475302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,490,929 - 172,501,818 (+)Ensembl
RefSeq Acc Id: ENST00000497107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,468,998 - 172,474,112 (+)Ensembl
RefSeq Acc Id: ENST00000684293   ⟹   ENSP00000508249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2172,427,586 - 172,506,459 (+)Ensembl
RefSeq Acc Id: NM_000210   ⟹   NP_000201
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,586 - 172,506,459 (+)NCBI
GRCh372173,291,954 - 173,371,181 (+)NCBI
Build 362173,000,560 - 173,079,427 (+)NCBI Archive
HuRef2165,170,787 - 165,249,645 (+)ENTREZGENE
CHM1_12173,299,461 - 173,378,363 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001079818   ⟹   NP_001073286
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,586 - 172,506,459 (+)NCBI
GRCh372173,291,954 - 173,371,181 (+)NCBI
Build 362173,000,560 - 173,079,427 (+)NCBI Archive
HuRef2165,170,787 - 165,249,645 (+)ENTREZGENE
CHM1_12173,299,461 - 173,378,363 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001316306   ⟹   NP_001303235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,336 - 172,506,459 (+)NCBI
CHM1_12173,299,260 - 173,378,363 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365529   ⟹   NP_001352458
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,586 - 172,506,459 (+)NCBI
RefSeq Acc Id: NM_001365530   ⟹   NP_001352459
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,586 - 172,506,459 (+)NCBI
RefSeq Acc Id: NM_001394928   ⟹   NP_001381857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,586 - 172,506,459 (+)NCBI
RefSeq Acc Id: XM_017004005   ⟹   XP_016859494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,359 - 172,506,277 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004006   ⟹   XP_016859495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,359 - 172,506,277 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004007   ⟹   XP_016859496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,359 - 172,506,277 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004008   ⟹   XP_016859497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382172,427,359 - 172,506,277 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000201 (Get FASTA)   NCBI Sequence Viewer  
  NP_001073286 (Get FASTA)   NCBI Sequence Viewer  
  NP_001303235 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352458 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352459 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381857 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859494 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859495 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859496 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859497 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB20354 (Get FASTA)   NCBI Sequence Viewer  
  AAB20355 (Get FASTA)   NCBI Sequence Viewer  
  AAB24829 (Get FASTA)   NCBI Sequence Viewer  
  AAD48469 (Get FASTA)   NCBI Sequence Viewer  
  AAH50585 (Get FASTA)   NCBI Sequence Viewer  
  AAI36456 (Get FASTA)   NCBI Sequence Viewer  
  AAI36457 (Get FASTA)   NCBI Sequence Viewer  
  AAX93133 (Get FASTA)   NCBI Sequence Viewer  
  ABH11650 (Get FASTA)   NCBI Sequence Viewer  
  BAD92079 (Get FASTA)   NCBI Sequence Viewer  
  BAG57680 (Get FASTA)   NCBI Sequence Viewer  
  BAG59130 (Get FASTA)   NCBI Sequence Viewer  
  CAA37655 (Get FASTA)   NCBI Sequence Viewer  
  CAA42099 (Get FASTA)   NCBI Sequence Viewer  
  CCF76946 (Get FASTA)   NCBI Sequence Viewer  
  CCF76947 (Get FASTA)   NCBI Sequence Viewer  
  EAX11175 (Get FASTA)   NCBI Sequence Viewer  
  EAX11176 (Get FASTA)   NCBI Sequence Viewer  
  EAX11177 (Get FASTA)   NCBI Sequence Viewer  
  P23229 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000201   ⟸   NM_000210
- Peptide Label: isoform b preproprotein
- UniProtKB: P23229 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001073286   ⟸   NM_001079818
- Peptide Label: isoform a preproprotein
- UniProtKB: P23229 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001303235   ⟸   NM_001316306
- Peptide Label: isoform c
- UniProtKB: P23229 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859496   ⟸   XM_017004007
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016859494   ⟸   XM_017004005
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859497   ⟸   XM_017004008
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016859495   ⟸   XM_017004006
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001352459   ⟸   NM_001365530
- Peptide Label: isoform e precursor
RefSeq Acc Id: NP_001352458   ⟸   NM_001365529
- Peptide Label: isoform d precursor
RefSeq Acc Id: ENSP00000413470   ⟸   ENST00000412899
RefSeq Acc Id: ENSP00000388435   ⟸   ENST00000416789
RefSeq Acc Id: ENSP00000406694   ⟸   ENST00000442250
RefSeq Acc Id: ENSP00000394169   ⟸   ENST00000458358
RefSeq Acc Id: ENSP00000386614   ⟸   ENST00000409532
RefSeq Acc Id: ENSP00000386896   ⟸   ENST00000409080
RefSeq Acc Id: ENSP00000264107   ⟸   ENST00000264107
RefSeq Acc Id: ENSP00000508249   ⟸   ENST00000684293
RefSeq Acc Id: NP_001381857   ⟸   NM_001394928
- Peptide Label: isoform 6 precursor
Protein Domains
Integrin_alpha2

Promoters
RGD ID:6862034
Promoter ID:EPDNEW_H4182
Type:initiation region
Name:ITGA6_1
Description:integrin subunit alpha 6
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
GRCh382172,427,586 - 172,427,646EPDNEW
RGD ID:6797675
Promoter ID:HG_KWN:35922
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   NB4
Transcripts:ENST00000264106,   ENST00000343713,   ENST00000375221,   ENST00000409532,   NM_001079818,   OTTHUMT00000255369,   OTTHUMT00000333832,   UC010FQK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362173,000,346 - 173,000,846 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
ITGA6, 1-BP DEL, 791C deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000015866] Chr2:2q31.1 pathogenic
NM_001079818.3(ITGA6):c.985G>A (p.Gly329Arg) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001130521]|not provided [RCV000722974] Chr2:172474264 [GRCh38]
Chr2:173338992 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.1301A>C (p.Tyr434Ser) single nucleotide variant not provided [RCV000722819] Chr2:172476426 [GRCh38]
Chr2:173341154 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.1(ITGA6):c.182+14965C>T single nucleotide variant Lung cancer [RCV000091664] Chr2:172442935 [GRCh38]
Chr2:173307663 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.1(ITGA6):c.183-16825A>T single nucleotide variant Lung cancer [RCV000091665] Chr2:172448714 [GRCh38]
Chr2:173313442 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1 copy number loss See cases [RCV000052554] Chr2:172366752..176361187 [GRCh38]
Chr2:173231480..177225915 [GRCh37]
Chr2:172939726..176934161 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1
pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 copy number loss See cases [RCV000139646] Chr2:171513047..177854080 [GRCh38]
Chr2:172369557..178718807 [GRCh37]
Chr2:172077803..178427053 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:172296909-172932166)x3 copy number gain See cases [RCV000142667] Chr2:172296909..172932166 [GRCh38]
Chr2:173161637..173796894 [GRCh37]
Chr2:172869883..173505140 [NCBI36]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.3183AGA[1] (p.Glu1063del) microsatellite Childhood-Onset Schizophrenia [RCV000202327] Chr2:172504158..172504160 [GRCh38]
Chr2:173368886..173368888 [GRCh37]
Chr2:2q31.1
likely pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
NM_001079818.3(ITGA6):c.*1471G>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000270112] Chr2:172505723 [GRCh38]
Chr2:173370451 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_001079818.3(ITGA6):c.182+15C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000280701] Chr2:172427985 [GRCh38]
Chr2:173292713 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.*1199C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000271041] Chr2:172505451 [GRCh38]
Chr2:173370179 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1756dup duplication Epidermolysis bullosa junctionalis with pyloric atresia [RCV000282295] Chr2:172506006..172506007 [GRCh38]
Chr2:173370734..173370735 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.3142G>A (p.Asp1048Asn) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000260596] Chr2:172504118 [GRCh38]
Chr2:173368846 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.3075G>A (p.Gly1025=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000261791] Chr2:172498061 [GRCh38]
Chr2:173362789 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*250_*251insG insertion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000273723] Chr2:172504502..172504503 [GRCh38]
Chr2:173369230..173369231 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*924A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000276974] Chr2:172505176 [GRCh38]
Chr2:173369904 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2136A>T (p.Ala712=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000266147] Chr2:172487429 [GRCh38]
Chr2:173352157 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.1970+12_1970+14del deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000267224]|not provided [RCV000907269] Chr2:172487148..172487150 [GRCh38]
Chr2:173351876..173351878 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_001079818.3(ITGA6):c.2296G>T (p.Asp766Tyr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000278674]|not provided [RCV000956002] Chr2:172487779 [GRCh38]
Chr2:173352507 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.1138G>A (p.Ala380Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000279397] Chr2:172475080 [GRCh38]
Chr2:173339808 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.-156G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000269251] Chr2:172427633 [GRCh38]
Chr2:173292361 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.3234dup (p.Gln1079fs) duplication Epidermolysis bullosa junctionalis with pyloric atresia [RCV000490534] Chr2:172504202..172504203 [GRCh38]
Chr2:173368930..173368931 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*411C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000291652] Chr2:172504663 [GRCh38]
Chr2:173369391 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.1969A>G (p.Ile657Val) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000362303] Chr2:172487137 [GRCh38]
Chr2:173351865 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1611C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000380423] Chr2:172505863 [GRCh38]
Chr2:173370591 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1476dup duplication Epidermolysis bullosa junctionalis with pyloric atresia [RCV000380967] Chr2:172505721..172505722 [GRCh38]
Chr2:173370449..173370450 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*251A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000331172] Chr2:172504503 [GRCh38]
Chr2:173369231 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.*519G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000382439] Chr2:172504771 [GRCh38]
Chr2:173369499 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2393C>T (p.Ser798Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000317348] Chr2:172488029 [GRCh38]
Chr2:173352757 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*20_*21insT insertion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000332266] Chr2:172504272..172504273 [GRCh38]
Chr2:173369000..173369001 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.2819C>T (p.Pro940Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000347958] Chr2:172491261 [GRCh38]
Chr2:173355989 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*390C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000383444] Chr2:172504642 [GRCh38]
Chr2:173369370 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2862G>C (p.Ser954=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000404314]|not provided [RCV000967971] Chr2:172491304 [GRCh38]
Chr2:173356032 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.*1625T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000283646] Chr2:172505877 [GRCh38]
Chr2:173370605 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.*2131A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000295095] Chr2:172506383 [GRCh38]
Chr2:173371111 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2245-3del deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000318976] Chr2:172487719 [GRCh38]
Chr2:173352447 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.*1885del deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000334949] Chr2:172506136 [GRCh38]
Chr2:173370864 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000349267]|not provided [RCV000889747] Chr2:172491072 [GRCh38]
Chr2:173355800 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_001079818.3(ITGA6):c.*1037C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000367961] Chr2:172505289 [GRCh38]
Chr2:173370017 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.10G>A (p.Ala4Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000320725]|not provided [RCV000898687] Chr2:172427798 [GRCh38]
Chr2:173292526 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_001079818.3(ITGA6):c.1374A>G (p.Ser458=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000350753]|not provided [RCV000942264] Chr2:172476499 [GRCh38]
Chr2:173341227 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_001079818.3(ITGA6):c.1427T>G (p.Val476Gly) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000368179] Chr2:172479679 [GRCh38]
Chr2:173344407 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2788G>A (p.Val930Met) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000387501] Chr2:172491230 [GRCh38]
Chr2:173355958 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000210.4(ITGA6):c.1487+7A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000406071]|not provided [RCV001539012] Chr2:172479746 [GRCh38]
Chr2:173344474 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.*837_*840dup duplication Epidermolysis bullosa junctionalis with pyloric atresia [RCV000369505] Chr2:172505085..172505086 [GRCh38]
Chr2:173369813..173369814 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2651A>G (p.Gln884Arg) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000388751] Chr2:172489630 [GRCh38]
Chr2:173354358 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*124C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000389121] Chr2:172504376 [GRCh38]
Chr2:173369104 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*698A>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000407663] Chr2:172504950 [GRCh38]
Chr2:173369678 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_001079818.3(ITGA6):c.*592T>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000407650] Chr2:172504844 [GRCh38]
Chr2:173369572 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2704C>T (p.Arg902Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000296803] Chr2:172491048 [GRCh38]
Chr2:173355776 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.2858G>A (p.Arg953His) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000308413]|not provided [RCV000900532] Chr2:172491300 [GRCh38]
Chr2:173356028 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_001079818.3(ITGA6):c.*1717dup duplication Epidermolysis bullosa junctionalis with pyloric atresia [RCV000322325] Chr2:172505961..172505962 [GRCh38]
Chr2:173370689..173370690 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.*2165T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000352805] Chr2:172506417 [GRCh38]
Chr2:173371145 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.3115-2212G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000353064]|not provided [RCV000968996] Chr2:172501879 [GRCh38]
Chr2:173366607 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.-14C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000286710] Chr2:172427775 [GRCh38]
Chr2:173292503 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_001079818.3(ITGA6):c.*535T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000286791] Chr2:172504787 [GRCh38]
Chr2:173369515 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1472G>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000322810] Chr2:172505724 [GRCh38]
Chr2:173370452 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*683T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000338100] Chr2:172504935 [GRCh38]
Chr2:173369663 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.388-13C>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000338175] Chr2:172469112 [GRCh38]
Chr2:173333840 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.963G>A (p.Ala321=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000391020] Chr2:172474242 [GRCh38]
Chr2:173338970 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.1388+8A>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000391028]|not provided [RCV000955987] Chr2:172476521 [GRCh38]
Chr2:173341249 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.*2178_*2180dup duplication Epidermolysis bullosa junctionalis with pyloric atresia [RCV000391207] Chr2:172506427..172506428 [GRCh38]
Chr2:173371155..173371156 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1904T>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000391216] Chr2:172506156 [GRCh38]
Chr2:173370884 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_001079818.3(ITGA6):c.*735A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000298369] Chr2:172504987 [GRCh38]
Chr2:173369715 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_001079818.3(ITGA6):c.1744A>G (p.Ile582Val) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000309898]|not provided [RCV000968994] Chr2:172485154 [GRCh38]
Chr2:173349882 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_001079818.3(ITGA6):c.2082C>T (p.Asp694=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000324684] Chr2:172487375 [GRCh38]
Chr2:173352103 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.*567A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000339493] Chr2:172504819 [GRCh38]
Chr2:173369547 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_001079818.3(ITGA6):c.1393C>T (p.Arg465Trp) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000310914] Chr2:172479645 [GRCh38]
Chr2:173344373 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1010A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000310985] Chr2:172505262 [GRCh38]
Chr2:173369990 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.*1751G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000374704] Chr2:172506003 [GRCh38]
Chr2:173370731 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2820G>A (p.Pro940=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000392772]|not provided [RCV000968995] Chr2:172491262 [GRCh38]
Chr2:173355990 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.*598A>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000299717] Chr2:172504850 [GRCh38]
Chr2:173369578 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2861C>T (p.Ser954Leu) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000341392] Chr2:172491303 [GRCh38]
Chr2:173356031 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2247C>G (p.Val749=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000375934]|not provided [RCV000881983] Chr2:172487730 [GRCh38]
Chr2:173352458 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_001079818.3(ITGA6):c.3115-2302A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000300621] Chr2:172501789 [GRCh38]
Chr2:173366517 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.-138G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000326633] Chr2:172427651 [GRCh38]
Chr2:173292379 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.2109G>A (p.Thr703=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000358517]|not provided [RCV000917107] Chr2:172487402 [GRCh38]
Chr2:173352130 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_001079818.3(ITGA6):c.3006T>C (p.Phe1002=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000358668]|not provided [RCV000963267] Chr2:172497992 [GRCh38]
Chr2:173362720 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_000210.4(ITGA6):c.2989-6C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000301585]|not provided [RCV000883619] Chr2:172497969 [GRCh38]
Chr2:173362697 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.*2190T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000313218] Chr2:172506442 [GRCh38]
Chr2:173371170 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.182+11A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000377577] Chr2:172427981 [GRCh38]
Chr2:173292709 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.2792A>G (p.Asn931Ser) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000290729] Chr2:172491234 [GRCh38]
Chr2:173355962 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1275G>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000328635] Chr2:172505527 [GRCh38]
Chr2:173370255 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.*494T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000344217] Chr2:172504746 [GRCh38]
Chr2:173369474 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.-122C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000378876] Chr2:172427667 [GRCh38]
Chr2:173292395 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.400C>T (p.Arg134Ter) single nucleotide variant not provided [RCV000722639] Chr2:172469137 [GRCh38]
Chr2:173333865 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3 copy number gain not provided [RCV000682159] Chr2:171667051..176832848 [GRCh37]
Chr2:2q31.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_000210.4(ITGA6):c.307+316G>C single nucleotide variant not provided [RCV001540676] Chr2:172465979 [GRCh38]
Chr2:173330707 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.2538C>T (p.Leu846=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135715]|not provided [RCV000895935] Chr2:172489517 [GRCh38]
Chr2:173354245 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.3115-2267del deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV000761293] Chr2:172501823 [GRCh38]
Chr2:173366551 [GRCh37]
Chr2:2q31.1
pathogenic
NM_001079818.3(ITGA6):c.2505+9G>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135714]|not provided [RCV000903657] Chr2:172488237 [GRCh38]
Chr2:173352965 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_001079818.3(ITGA6):c.3000T>C (p.Thr1000=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001131345]|not provided [RCV000921775] Chr2:172497986 [GRCh38]
Chr2:173362714 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_001079818.3(ITGA6):c.258C>A (p.Cys86Ter) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000779285] Chr2:172465614 [GRCh38]
Chr2:173330342 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2926C>T (p.Arg976Ter) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV000779286] Chr2:172491461 [GRCh38]
Chr2:173356189 [GRCh37]
Chr2:2q31.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001079818.3(ITGA6):c.2679+7C>T single nucleotide variant not provided [RCV000922573] Chr2:172489665 [GRCh38]
Chr2:173354393 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.747C>T (p.Leu249=) single nucleotide variant not provided [RCV000925110] Chr2:172471077 [GRCh38]
Chr2:173335805 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.258C>T (p.Cys86=) single nucleotide variant not provided [RCV000963109] Chr2:172465614 [GRCh38]
Chr2:173330342 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.201G>A (p.Pro67=) single nucleotide variant not provided [RCV000921531] Chr2:172465557 [GRCh38]
Chr2:173330285 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.729T>C (p.Thr243=) single nucleotide variant not provided [RCV000902283] Chr2:172471059 [GRCh38]
Chr2:173335787 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.2169G>A (p.Gln723=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135712]|not provided [RCV000944033] Chr2:172487555 [GRCh38]
Chr2:173352283 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_001079818.3(ITGA6):c.*224C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135815] Chr2:172504476 [GRCh38]
Chr2:173369204 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.1517C>T (p.Thr506Ile) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134214] Chr2:172480019 [GRCh38]
Chr2:173344747 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1258T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134474] Chr2:172505510 [GRCh38]
Chr2:173370238 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.6C>T (p.Ala2=) single nucleotide variant not provided [RCV000919346] Chr2:172427794 [GRCh38]
Chr2:173292522 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.1549+6T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134215] Chr2:172480057 [GRCh38]
Chr2:173344785 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1336T>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134475] Chr2:172505588 [GRCh38]
Chr2:173370316 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.3193G>C (p.Glu1065Gln) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135814] Chr2:172504169 [GRCh38]
Chr2:173368897 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*251A>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135816] Chr2:172504503 [GRCh38]
Chr2:173369231 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1897G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135936] Chr2:172506149 [GRCh38]
Chr2:173370877 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_001079818.3(ITGA6):c.1269+14C>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001131247] Chr2:172475699 [GRCh38]
Chr2:173340427 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2900A>C (p.Lys967Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001131344] Chr2:172491435 [GRCh38]
Chr2:173356163 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2679+13A>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128720] Chr2:172489671 [GRCh38]
Chr2:173354399 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2777T>C (p.Leu926Pro) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128722] Chr2:172491121 [GRCh38]
Chr2:173355849 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*2125C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128943] Chr2:172506377 [GRCh38]
Chr2:173371105 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.2793C>T (p.Asn931=) single nucleotide variant not provided [RCV000925343] Chr2:172491235 [GRCh38]
Chr2:173355963 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.148A>G (p.Met50Val) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135598]|not provided [RCV000885969] Chr2:172427936 [GRCh38]
Chr2:173292664 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.2796G>C (p.Val932=) single nucleotide variant not provided [RCV000940652] Chr2:172491238 [GRCh38]
Chr2:173355966 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.2862G>A (p.Ser954=) single nucleotide variant not provided [RCV000918182] Chr2:172491304 [GRCh38]
Chr2:173356032 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.1850T>C (p.Ile617Thr) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134216]|not provided [RCV001354872] Chr2:172485260 [GRCh38]
Chr2:173349988 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_001079818.3(ITGA6):c.3069C>T (p.Leu1023=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134345] Chr2:172498055 [GRCh38]
Chr2:173362783 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.3157C>G (p.Arg1053Gly) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134347] Chr2:172504133 [GRCh38]
Chr2:173368861 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*2101G>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128941] Chr2:172506353 [GRCh38]
Chr2:173371081 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1155T>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134471] Chr2:172505407 [GRCh38]
Chr2:173370135 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.*1164C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134472] Chr2:172505416 [GRCh38]
Chr2:173370144 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.-28C>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135597] Chr2:172427761 [GRCh38]
Chr2:173292489 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2324+9T>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135713] Chr2:172487816 [GRCh38]
Chr2:173352544 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2543C>T (p.Thr848Ile) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135716] Chr2:172489522 [GRCh38]
Chr2:173354250 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3
pathogenic
NM_001079818.3(ITGA6):c.*464G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128830] Chr2:172504716 [GRCh38]
Chr2:173369444 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.759T>G (p.Pro253=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001130520] Chr2:172471089 [GRCh38]
Chr2:173335817 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.986+14A>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001130522] Chr2:172474279 [GRCh38]
Chr2:173339007 [GRCh37]
Chr2:2q31.1
benign
NM_001079818.3(ITGA6):c.1318A>G (p.Met440Val) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001131248] Chr2:172476443 [GRCh38]
Chr2:173341171 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*951T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001131487] Chr2:172505203 [GRCh38]
Chr2:173369931 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.*518C>T single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128831] Chr2:172504770 [GRCh38]
Chr2:173369498 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.*2107G>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128942] Chr2:172506359 [GRCh38]
Chr2:173371087 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1940T>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128940] Chr2:172506192 [GRCh38]
Chr2:173370920 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.1388+5G>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001131249] Chr2:172476518 [GRCh38]
Chr2:173341246 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*689A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001131486] Chr2:172504941 [GRCh38]
Chr2:173369669 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1699C>A single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001135935] Chr2:172505951 [GRCh38]
Chr2:173370679 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.3189G>A (p.Glu1063=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134348] Chr2:172504165 [GRCh38]
Chr2:173368893 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*1229T>C single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134473] Chr2:172505481 [GRCh38]
Chr2:173370209 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.2680-14A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128721] Chr2:172491010 [GRCh38]
Chr2:173355738 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001079818.3(ITGA6):c.*563A>G single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001128832] Chr2:172504815 [GRCh38]
Chr2:173369543 [GRCh37]
Chr2:2q31.1
likely benign
NM_001079818.3(ITGA6):c.3150T>C (p.Ser1050=) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001134346] Chr2:172504126 [GRCh38]
Chr2:173368854 [GRCh37]
Chr2:2q31.1
benign
NM_000210.4(ITGA6):c.442C>T (p.Arg148Ter) single nucleotide variant not provided [RCV001090463] Chr2:172469179 [GRCh38]
Chr2:173333907 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_000210.4(ITGA6):c.915del (p.His305fs) deletion Epidermolysis bullosa junctionalis with pyloric atresia [RCV001535978] Chr2:172474194 [GRCh38]
Chr2:173338922 [GRCh37]
Chr2:2q31.1
pathogenic
NM_001079818.3(ITGA6):c.1286C>A (p.Ser429Ter) single nucleotide variant Junctional epidermolysis bullosa [RCV001352792] Chr2:172476411 [GRCh38]
Chr2:173341139 [GRCh37]
Chr2:2q31.1
pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) copy number loss 3-4 finger syndactyly [RCV001352646] Chr2:171999572..182774361 [GRCh37]
Chr2:2q31.1-31.3
pathogenic
NM_001079818.3(ITGA6):c.2938_2939insT (p.Asp980fs) insertion Epidermolysis bullosa junctionalis with pyloric atresia [RCV001329697] Chr2:172491473..172491474 [GRCh38]
Chr2:173356201..173356202 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_001079818.3(ITGA6):c.835G>C (p.Gly279Arg) single nucleotide variant Epidermolysis bullosa junctionalis with pyloric atresia [RCV001329698] Chr2:172474114 [GRCh38]
Chr2:173338842 [GRCh37]
Chr2:2q31.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6142 AgrOrtholog
COSMIC ITGA6 COSMIC
Ensembl Genes ENSG00000091409 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264107 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386614 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386896 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388435 UniProtKB/TrEMBL
  ENSP00000394169 UniProtKB/Swiss-Prot
  ENSP00000406694 UniProtKB/Swiss-Prot
  ENSP00000413470 UniProtKB/TrEMBL
  ENSP00000508249 ENTREZGENE
Ensembl Transcript ENST00000264107 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409080 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409532 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000412899 UniProtKB/TrEMBL
  ENST00000416789 UniProtKB/TrEMBL
  ENST00000442250 UniProtKB/Swiss-Prot
  ENST00000458358 UniProtKB/Swiss-Prot
  ENST00000684293 ENTREZGENE
Gene3D-CATH 2.130.10.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091409 GTEx
HGNC ID HGNC:6142 ENTREZGENE
Human Proteome Map ITGA6 Human Proteome Map
InterPro FG-GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Int_alpha_beta-p UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_C_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3655 UniProtKB/Swiss-Prot
NCBI Gene 3655 ENTREZGENE
OMIM 147556 OMIM
  226730 OMIM
Pfam FG-GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29942 PharmGKB
PRINTS INTEGRINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FG_GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTEGRIN_ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Int_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF69179 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JXX7_HUMAN UniProtKB/TrEMBL
  H7BZ97_HUMAN UniProtKB/TrEMBL
  ITA6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RMU9 UniProtKB/Swiss-Prot
  B4DG69 UniProtKB/Swiss-Prot
  B4DKB8 UniProtKB/Swiss-Prot
  C4AM96 UniProtKB/Swiss-Prot
  G5E9H1 UniProtKB/Swiss-Prot
  Q08443 UniProtKB/Swiss-Prot
  Q0MRC7 UniProtKB/Swiss-Prot
  Q14646 UniProtKB/Swiss-Prot
  Q16508 UniProtKB/Swiss-Prot
  Q53RX7 UniProtKB/Swiss-Prot
  Q59HB7 UniProtKB/Swiss-Prot
  Q86VL6 UniProtKB/Swiss-Prot
  Q9UCT1 UniProtKB/Swiss-Prot
  Q9UN03 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ITGA6  integrin subunit alpha 6  ITGA6  integrin alpha 6  Symbol and/or name change 5135510 APPROVED
2015-12-08 ITGA6  integrin alpha 6  ITGA6  integrin, alpha 6  Symbol and/or name change 5135510 APPROVED