ITGAD (integrin subunit alpha D) - Rat Genome Database

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Gene: ITGAD (integrin subunit alpha D) Homo sapiens
Analyze
Symbol: ITGAD
Name: integrin subunit alpha D
RGD ID: 731798
HGNC Page HGNC:6146
Description: Predicted to enable integrin binding activity. Involved in heterotypic cell-cell adhesion. Predicted to be located in cell surface and plasma membrane. Predicted to be part of integrin complex. Predicted to be active in external side of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADB2; beta-2 integrin alphaD subunit; CD11 antigen-like family member D; CD11D; FLJ39841; integrin alpha x; integrin alpha-D; integrin, alpha D; leukointegrin alpha D
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh381631,393,335 - 31,426,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,393,335 - 31,426,505 (+)EnsemblGRCh38hg38GRCh38
GRCh371631,404,656 - 31,437,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,312,134 - 31,345,327 (+)NCBINCBI36Build 36hg18NCBI36
Celera1628,870,558 - 28,903,646 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,964,899 - 28,998,212 (+)NCBIHuRef
CHM1_11632,723,321 - 32,756,513 (+)NCBICHM1_1
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Integrins: bidirectional, allosteric signaling machines. Hynes RO Cell 2002 Sep 20;110(6):673-87.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. The integrins. Takada Y, etal., Genome Biol. 2007;8(5):215.
Additional References at PubMed
PMID:8666289   PMID:8777714   PMID:9598326   PMID:9841932   PMID:10438935   PMID:10722744   PMID:12429998   PMID:14702039   PMID:15561714   PMID:19571252   PMID:19710015   PMID:20187620  
PMID:20563599   PMID:21508205   PMID:21712539   PMID:21873635   PMID:23414334   PMID:24210817   PMID:25415295   PMID:27881604   PMID:28500072   PMID:31541017   PMID:33961781   PMID:35038314  


Genomics

Comparative Map Data
ITGAD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,393,335 - 31,426,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,393,335 - 31,426,505 (+)EnsemblGRCh38hg38GRCh38
GRCh371631,404,656 - 31,437,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,312,134 - 31,345,327 (+)NCBINCBI36Build 36hg18NCBI36
Celera1628,870,558 - 28,903,646 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,964,899 - 28,998,212 (+)NCBIHuRef
CHM1_11632,723,321 - 32,756,513 (+)NCBICHM1_1
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBIT2T-CHM13v2.0
Itgad
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,773,105 - 127,822,988 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7127,753,548 - 127,822,988 (+)EnsemblGRCm39 Ensembl
GRCm387128,173,933 - 128,205,504 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7128,154,376 - 128,223,816 (+)EnsemblGRCm38mm10GRCm38
MGSCv377135,317,460 - 135,349,018 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367127,965,115 - 127,996,645 (+)NCBIMGSCv36mm8
Celera7128,007,533 - 128,041,159 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map770.0NCBI
Itgad
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81192,190,204 - 192,218,864 (+)NCBIGRCr8
mRatBN7.21182,759,762 - 182,788,422 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,759,740 - 182,788,161 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1191,110,263 - 191,138,916 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01198,296,358 - 198,325,011 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01190,966,810 - 190,995,472 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01199,595,968 - 199,623,931 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1199,495,298 - 199,623,960 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01206,632,107 - 206,669,878 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41187,436,291 - 187,464,212 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11187,586,171 - 187,614,093 (+)NCBI
Celera1180,405,943 - 180,434,140 (+)NCBICelera
Cytogenetic Map1q37NCBI
Itgad
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554938,233,098 - 8,260,613 (+)NCBIChiLan1.0ChiLan1.0
ITGAD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21834,592,155 - 34,635,352 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11639,393,576 - 39,436,777 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01623,539,562 - 23,572,705 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11631,764,268 - 31,797,249 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,724,113 - 31,797,249 (+)Ensemblpanpan1.1panPan2
ITGAD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1616,808,680 - 16,834,019 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl616,808,971 - 16,996,286 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha618,354,250 - 18,357,206 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0616,930,226 - 16,958,790 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl616,933,693 - 17,052,528 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1616,737,256 - 16,761,995 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0616,656,592 - 16,681,338 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0616,968,289 - 16,993,053 (-)NCBIUU_Cfam_GSD_1.0
Itgad
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344125,625,814 - 125,654,013 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365438,382,942 - 8,411,350 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365438,382,942 - 8,412,486 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGAD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,136,187 - 17,169,667 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,136,161 - 17,169,776 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,401,193 - 17,420,157 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ITGAD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1528,095,341 - 28,128,498 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660681,312,447 - 1,345,990 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ITGAD
69 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005353.2(ITGAD):c.88G>A (p.Glu30Lys) single nucleotide variant Malignant melanoma [RCV000071105] Chr16:31394292 [GRCh38]
Chr16:31405613 [GRCh37]
Chr16:31313114 [NCBI36]
Chr16:16p11.2		 not provided
NM_005353.2(ITGAD):c.1095C>T (p.Phe365=) single nucleotide variant Malignant melanoma [RCV000071106] Chr16:31410406 [GRCh38]
Chr16:31421727 [GRCh37]
Chr16:31329228 [NCBI36]
Chr16:16p11.2		 not provided
NM_005353.3(ITGAD):c.2836A>C (p.Lys946Gln) single nucleotide variant Malignant tumor of prostate [RCV000149167] Chr16:31423169 [GRCh38]
Chr16:31434490 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 copy number gain See cases [RCV000133811] Chr16:30691912..36160463 [GRCh38]
Chr16:30703233..35147508 [GRCh37]
Chr16:30610734..35005009 [NCBI36]
Chr16:16p11.2-11.1		 pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207245] Chr16:31154186..31926800 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
Single allele deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] Chr16:30554158..31536880 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:31343812-31405543)x3 copy number gain See cases [RCV000445926] Chr16:31343812..31405543 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4 copy number gain See cases [RCV000447708] Chr16:30830287..31827011 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_005353.3(ITGAD):c.934G>A (p.Val312Met) single nucleotide variant Inborn genetic diseases [RCV003302556] Chr16:31407841 [GRCh38]
Chr16:31419162 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_005353.3(ITGAD):c.1813G>A (p.Ala605Thr) single nucleotide variant Inborn genetic diseases [RCV003290327] Chr16:31412943 [GRCh38]
Chr16:31424264 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1099G>A (p.Gly367Arg) single nucleotide variant Inborn genetic diseases [RCV003250297] Chr16:31410410 [GRCh38]
Chr16:31421731 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:31198100-31407832)x3 copy number gain See cases [RCV000512181] Chr16:31198100..31407832 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3 copy number gain not provided [RCV000739123] Chr16:30738551..34194635 [GRCh37]
Chr16:16p11.2		 benign
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.363G>C (p.Lys121Asn) single nucleotide variant Inborn genetic diseases [RCV003197335] Chr16:31397845 [GRCh38]
Chr16:31409166 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.182C>T (p.Thr61Met) single nucleotide variant Inborn genetic diseases [RCV003283744] Chr16:31397403 [GRCh38]
Chr16:31408724 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1979G>T (p.Ser660Ile) single nucleotide variant Inborn genetic diseases [RCV003264791] Chr16:31413229 [GRCh38]
Chr16:31424550 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.114C>A (p.Ser38Arg) single nucleotide variant Inborn genetic diseases [RCV002906750] Chr16:31394318 [GRCh38]
Chr16:31405639 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1273C>T (p.Arg425Cys) single nucleotide variant Inborn genetic diseases [RCV002729567] Chr16:31410795 [GRCh38]
Chr16:31422116 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1229T>C (p.Leu410Pro) single nucleotide variant Inborn genetic diseases [RCV002753182] Chr16:31410751 [GRCh38]
Chr16:31422072 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.3389G>A (p.Arg1130His) single nucleotide variant Inborn genetic diseases [RCV002969050] Chr16:31426031 [GRCh38]
Chr16:31437352 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.923C>T (p.Pro308Leu) single nucleotide variant Inborn genetic diseases [RCV002997466] Chr16:31407830 [GRCh38]
Chr16:31419151 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1359C>G (p.Ile453Met) single nucleotide variant Inborn genetic diseases [RCV002779432] Chr16:31411078 [GRCh38]
Chr16:31422399 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.386C>T (p.Ser129Leu) single nucleotide variant Inborn genetic diseases [RCV002778126] Chr16:31397868 [GRCh38]
Chr16:31409189 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.529A>G (p.Met177Val) single nucleotide variant Inborn genetic diseases [RCV002734213] Chr16:31402216 [GRCh38]
Chr16:31413537 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2375T>C (p.Val792Ala) single nucleotide variant Inborn genetic diseases [RCV002688426] Chr16:31416522 [GRCh38]
Chr16:31427843 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1119C>A (p.Ser373Arg) single nucleotide variant Inborn genetic diseases [RCV002687644] Chr16:31410430 [GRCh38]
Chr16:31421751 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.737G>A (p.Arg246Gln) single nucleotide variant Inborn genetic diseases [RCV002682458] Chr16:31407547 [GRCh38]
Chr16:31418868 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1254C>G (p.Asn418Lys) single nucleotide variant Inborn genetic diseases [RCV002906028] Chr16:31410776 [GRCh38]
Chr16:31422097 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.3155G>A (p.Arg1052His) single nucleotide variant Inborn genetic diseases [RCV002865754] Chr16:31423954 [GRCh38]
Chr16:31435275 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.449A>C (p.Asp150Ala) single nucleotide variant Inborn genetic diseases [RCV002822490] Chr16:31402136 [GRCh38]
Chr16:31413457 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.644T>C (p.Val215Ala) single nucleotide variant Inborn genetic diseases [RCV002823182] Chr16:31403585 [GRCh38]
Chr16:31414906 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2474C>T (p.Ser825Leu) single nucleotide variant Inborn genetic diseases [RCV002888572] Chr16:31416621 [GRCh38]
Chr16:31427942 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.761T>C (p.Ile254Thr) single nucleotide variant Inborn genetic diseases [RCV002739788] Chr16:31407571 [GRCh38]
Chr16:31418892 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.418G>A (p.Ala140Thr) single nucleotide variant Inborn genetic diseases [RCV002739527] Chr16:31397900 [GRCh38]
Chr16:31409221 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1171A>C (p.Asn391His) single nucleotide variant Inborn genetic diseases [RCV002767713] Chr16:31410482 [GRCh38]
Chr16:31421803 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2239C>T (p.Arg747Cys) single nucleotide variant Inborn genetic diseases [RCV002768675] Chr16:31414947 [GRCh38]
Chr16:31426268 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2845G>A (p.Glu949Lys) single nucleotide variant Inborn genetic diseases [RCV002919722] Chr16:31423178 [GRCh38]
Chr16:31434499 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1075C>T (p.Leu359Phe) single nucleotide variant Inborn genetic diseases [RCV002744918] Chr16:31408490 [GRCh38]
Chr16:31419811 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1951G>A (p.Ala651Thr) single nucleotide variant Inborn genetic diseases [RCV002664464] Chr16:31413201 [GRCh38]
Chr16:31424522 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1673C>T (p.Ala558Val) single nucleotide variant Inborn genetic diseases [RCV002931568] Chr16:31411483 [GRCh38]
Chr16:31422804 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1684G>A (p.Gly562Ser) single nucleotide variant Inborn genetic diseases [RCV002931569] Chr16:31411494 [GRCh38]
Chr16:31422815 [GRCh37]
Chr16:16p11.2		 likely benign
NM_005353.3(ITGAD):c.1679A>G (p.Glu560Gly) single nucleotide variant Inborn genetic diseases [RCV002956506] Chr16:31411489 [GRCh38]
Chr16:31422810 [GRCh37]
Chr16:16p11.2		 likely benign
NM_005353.3(ITGAD):c.1681T>C (p.Ser561Pro) single nucleotide variant Inborn genetic diseases [RCV002956507] Chr16:31411491 [GRCh38]
Chr16:31422812 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2770A>G (p.Met924Val) single nucleotide variant Inborn genetic diseases [RCV002929359] Chr16:31418554 [GRCh38]
Chr16:31429875 [GRCh37]
Chr16:16p11.2		 likely benign
NM_005353.3(ITGAD):c.1494G>T (p.Arg498Ser) single nucleotide variant Inborn genetic diseases [RCV002763782] Chr16:31411213 [GRCh38]
Chr16:31422534 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1676C>T (p.Ser559Leu) single nucleotide variant Inborn genetic diseases [RCV002956505] Chr16:31411486 [GRCh38]
Chr16:31422807 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1267G>C (p.Ala423Pro) single nucleotide variant Inborn genetic diseases [RCV002665459] Chr16:31410789 [GRCh38]
Chr16:31422110 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.3217G>A (p.Val1073Met) single nucleotide variant Inborn genetic diseases [RCV002873343] Chr16:31424159 [GRCh38]
Chr16:31435480 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1189G>A (p.Val397Met) single nucleotide variant Inborn genetic diseases [RCV002719566] Chr16:31410500 [GRCh38]
Chr16:31421821 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2474C>G (p.Ser825Trp) single nucleotide variant Inborn genetic diseases [RCV002935245] Chr16:31416621 [GRCh38]
Chr16:31427942 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2687G>T (p.Ser896Ile) single nucleotide variant Inborn genetic diseases [RCV002964899] Chr16:31418371 [GRCh38]
Chr16:31429692 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2792C>A (p.Ser931Tyr) single nucleotide variant Inborn genetic diseases [RCV002897124] Chr16:31423125 [GRCh38]
Chr16:31434446 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2749G>T (p.Val917Leu) single nucleotide variant Inborn genetic diseases [RCV002717978] Chr16:31418533 [GRCh38]
Chr16:31429854 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2635T>C (p.Phe879Leu) single nucleotide variant Inborn genetic diseases [RCV002722626] Chr16:31418319 [GRCh38]
Chr16:31429640 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.3260A>G (p.Gln1087Arg) single nucleotide variant Inborn genetic diseases [RCV003296109] Chr16:31424202 [GRCh38]
Chr16:31435523 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2833A>G (p.Met945Val) single nucleotide variant Inborn genetic diseases [RCV003295814] Chr16:31423166 [GRCh38]
Chr16:31434487 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1646G>A (p.Arg549Gln) single nucleotide variant Inborn genetic diseases [RCV003215398] Chr16:31411456 [GRCh38]
Chr16:31422777 [GRCh37]
Chr16:16p11.2		 likely benign
NM_005353.3(ITGAD):c.305G>A (p.Arg102Gln) single nucleotide variant Inborn genetic diseases [RCV003193413] Chr16:31397659 [GRCh38]
Chr16:31408980 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.3373C>G (p.Leu1125Val) single nucleotide variant Inborn genetic diseases [RCV003191340] Chr16:31426015 [GRCh38]
Chr16:31437336 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1628C>T (p.Pro543Leu) single nucleotide variant Inborn genetic diseases [RCV003190850] Chr16:31411438 [GRCh38]
Chr16:31422759 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1417G>A (p.Asp473Asn) single nucleotide variant Inborn genetic diseases [RCV003196689] Chr16:31411136 [GRCh38]
Chr16:31422457 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2254G>A (p.Val752Met) single nucleotide variant Inborn genetic diseases [RCV003186107] Chr16:31414962 [GRCh38]
Chr16:31426283 [GRCh37]
Chr16:16p11.2		 likely benign
NM_005353.3(ITGAD):c.2959C>T (p.Pro987Ser) single nucleotide variant Inborn genetic diseases [RCV003189210] Chr16:31423451 [GRCh38]
Chr16:31434772 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.127G>A (p.Gly43Ser) single nucleotide variant Inborn genetic diseases [RCV003189351] Chr16:31394331 [GRCh38]
Chr16:31405652 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1957G>A (p.Val653Ile) single nucleotide variant Inborn genetic diseases [RCV003192780] Chr16:31413207 [GRCh38]
Chr16:31424528 [GRCh37]
Chr16:16p11.2		 likely benign
NM_005353.3(ITGAD):c.1073C>A (p.Ala358Asp) single nucleotide variant Inborn genetic diseases [RCV003178561] Chr16:31408488 [GRCh38]
Chr16:31419809 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.1289G>T (p.Gly430Val) single nucleotide variant Inborn genetic diseases [RCV003209894] Chr16:31410811 [GRCh38]
Chr16:31422132 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.154C>A (p.Pro52Thr) single nucleotide variant Inborn genetic diseases [RCV003308605] Chr16:31397375 [GRCh38]
Chr16:31408696 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2971C>T (p.Leu991Phe) single nucleotide variant Inborn genetic diseases [RCV003340449] Chr16:31423574 [GRCh38]
Chr16:31434895 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2275A>T (p.Thr759Ser) single nucleotide variant Inborn genetic diseases [RCV003362000] Chr16:31414983 [GRCh38]
Chr16:31426304 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.3434C>T (p.Thr1145Ile) single nucleotide variant Inborn genetic diseases [RCV003351946] Chr16:31426076 [GRCh38]
Chr16:31437397 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.151G>A (p.Ala51Thr) single nucleotide variant Inborn genetic diseases [RCV003374157] Chr16:31397372 [GRCh38]
Chr16:31408693 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2576G>A (p.Arg859His) single nucleotide variant Inborn genetic diseases [RCV003354126] Chr16:31418151 [GRCh38]
Chr16:31429472 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_005353.3(ITGAD):c.2925C>T (p.Asn975=) single nucleotide variant not provided [RCV003426683] Chr16:31423417 [GRCh38]
Chr16:31434738 [GRCh37]
Chr16:16p11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:652
Count of miRNA genes:515
Interacting mature miRNAs:565
Transcripts:ENST00000389202, ENST00000444228, ENST00000567308
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-110391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,421,284 - 31,421,627UniSTSGRCh37
Build 361631,328,785 - 31,329,128RGDNCBI36
Cytogenetic Map16p11.2UniSTS
TNG Radiation Hybrid Map1617470.0UniSTS
D17S610  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map10q21.1UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 16 5 5 235 5 1 5 1 2
Low 194 720 288 237 851 235 475 285 94 94 158 358 2 275 282 1 1
Below cutoff 2015 1916 1205 357 532 207 3240 1826 2913 217 1161 1031 159 886 2101 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_950791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC734518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U37028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000389202   ⟹   ENSP00000373854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,393,335 - 31,426,505 (+)Ensembl
RefSeq Acc Id: ENST00000444228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,393,335 - 31,408,619 (+)Ensembl
RefSeq Acc Id: ENST00000567308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,423,942 - 31,424,715 (+)Ensembl
RefSeq Acc Id: NM_001318185   ⟹   NP_001305114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
CHM1_11632,723,321 - 32,756,513 (+)NCBI
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005353   ⟹   NP_005344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
GRCh371631,404,633 - 31,437,826 (+)ENTREZGENE
GRCh371631,404,633 - 31,437,826 (+)NCBI
Build 361631,312,134 - 31,345,327 (+)NCBI Archive
HuRef1628,964,899 - 28,998,212 (+)ENTREZGENE
CHM1_11632,723,321 - 32,756,513 (+)NCBI
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545835   ⟹   XP_011544137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545836   ⟹   XP_011544138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545837   ⟹   XP_011544139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545838   ⟹   XP_011544140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545839   ⟹   XP_011544141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545841   ⟹   XP_011544143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545842   ⟹   XP_011544144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545843   ⟹   XP_011544145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,423,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545844   ⟹   XP_011544146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545845   ⟹   XP_011544147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,416,594 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545846   ⟹   XP_011544148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,416,183 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545847   ⟹   XP_011544149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545848   ⟹   XP_011544150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,416,594 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023215   ⟹   XP_016878704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434071   ⟹   XP_047290027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
RefSeq Acc Id: XM_054380250   ⟹   XP_054236225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380251   ⟹   XP_054236226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380252   ⟹   XP_054236227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380253   ⟹   XP_054236228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380254   ⟹   XP_054236229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380255   ⟹   XP_054236230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380256   ⟹   XP_054236231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380257   ⟹   XP_054236232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380258   ⟹   XP_054236233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380259   ⟹   XP_054236234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,811,337 (+)NCBI
RefSeq Acc Id: XM_054380260   ⟹   XP_054236235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380261   ⟹   XP_054236236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,803,986 (+)NCBI
RefSeq Acc Id: XM_054380262   ⟹   XP_054236237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,803,575 (+)NCBI
RefSeq Acc Id: XM_054380263   ⟹   XP_054236238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XM_054380264   ⟹   XP_054236239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,803,986 (+)NCBI
RefSeq Acc Id: XR_008489085
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,780,736 - 31,813,905 (+)NCBI
RefSeq Acc Id: XR_950791
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,335 - 31,426,505 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001305114 (Get FASTA)   NCBI Sequence Viewer  
  NP_005344 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544137 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544138 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544139 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544140 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544141 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544143 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544144 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544145 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544146 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544147 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544148 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544149 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544150 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878704 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290027 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236225 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236226 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236227 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236228 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236229 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236230 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236231 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236232 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236233 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236234 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236235 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236236 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236237 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236238 (Get FASTA)   NCBI Sequence Viewer  
  XP_054236239 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB38547 (Get FASTA)   NCBI Sequence Viewer  
  AAB60634 (Get FASTA)   NCBI Sequence Viewer  
  AAB60635 (Get FASTA)   NCBI Sequence Viewer  
  AAB60636 (Get FASTA)   NCBI Sequence Viewer  
  AAB60637 (Get FASTA)   NCBI Sequence Viewer  
  AAB60638 (Get FASTA)   NCBI Sequence Viewer  
  AAF62875 (Get FASTA)   NCBI Sequence Viewer  
  BAC04967 (Get FASTA)   NCBI Sequence Viewer  
  BAD92182 (Get FASTA)   NCBI Sequence Viewer  
  BAH13393 (Get FASTA)   NCBI Sequence Viewer  
  CBL95066 (Get FASTA)   NCBI Sequence Viewer  
  EAW52139 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000373854
  ENSP00000373854.2
GenBank Protein Q13349 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005344   ⟸   NM_005353
- Peptide Label: isoform 2 precursor
- UniProtKB: Q15575 (UniProtKB/Swiss-Prot),   Q15576 (UniProtKB/Swiss-Prot),   Q13349 (UniProtKB/Swiss-Prot),   Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544147   ⟸   XM_011545845
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011544150   ⟸   XM_011545848
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_011544148   ⟸   XM_011545846
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011544145   ⟸   XM_011545843
- Peptide Label: isoform X10
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544137   ⟸   XM_011545835
- Peptide Label: isoform X1
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544139   ⟸   XM_011545837
- Peptide Label: isoform X3
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544146   ⟸   XM_011545844
- Peptide Label: isoform X11
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544144   ⟸   XM_011545842
- Peptide Label: isoform X9
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544141   ⟸   XM_011545839
- Peptide Label: isoform X5
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544138   ⟸   XM_011545836
- Peptide Label: isoform X2
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544140   ⟸   XM_011545838
- Peptide Label: isoform X4
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544143   ⟸   XM_011545841
- Peptide Label: isoform X7
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544149   ⟸   XM_011545847
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: NP_001305114   ⟸   NM_001318185
- Peptide Label: isoform 1 precursor
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878704   ⟸   XM_017023215
- Peptide Label: isoform X6
- UniProtKB: Q59H14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000373854   ⟸   ENST00000389202
RefSeq Acc Id: XP_047290027   ⟸   XM_047434071
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054236225   ⟸   XM_054380250
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236230   ⟸   XM_054380255
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054236229   ⟸   XM_054380254
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054236227   ⟸   XM_054380252
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236235   ⟸   XM_054380260
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054236226   ⟸   XM_054380251
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236228   ⟸   XM_054380253
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236232   ⟸   XM_054380257
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054236231   ⟸   XM_054380256
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054236233   ⟸   XM_054380258
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054236238   ⟸   XM_054380263
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054236234   ⟸   XM_054380259
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054236236   ⟸   XM_054380261
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054236239   ⟸   XM_054380264
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054236237   ⟸   XM_054380262
- Peptide Label: isoform X13
Protein Domains
VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13349-F1-model_v2 AlphaFold Q13349 1-1161 view protein structure

Promoters
RGD ID:6793204
Promoter ID:HG_KWN:23626
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000268297,   ENST00000316569,   NM_005353
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,311,956 - 31,312,456 (+)MPROMDB
RGD ID:6793205
Promoter ID:HG_KWN:23627
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC002EBW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,316,231 - 31,316,731 (+)MPROMDB
RGD ID:7232095
Promoter ID:EPDNEW_H21793
Type:initiation region
Name:ITGAD_1
Description:integrin subunit alpha D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,393,258 - 31,393,318EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6146 AgrOrtholog
COSMIC ITGAD COSMIC
Ensembl Genes ENSG00000156886 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000389202 ENTREZGENE
  ENST00000389202.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bicelle-embedded integrin alpha(iib) transmembrane segment UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin domains. Chain A, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ntegrin, alpha v. Chain A, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ntegrin, alpha v. Chain A, domain 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156886 GTEx
HGNC ID HGNC:6146 ENTREZGENE
Human Proteome Map ITGAD 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_Ig-like_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ITGAX-like_Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3681 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3681 ENTREZGENE
OMIM 602453 OMIM
PANTHER INTEGRIN ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTEGRIN ALPHA-D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FG-GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_A_Ig_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Integrin_alpha2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ITGAX-like_Ig_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29946 PharmGKB
PRINTS INTEGRINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFADOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FG_GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INTEGRIN_ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Int_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69179 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69318 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ITAD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15575 ENTREZGENE
  Q15576 ENTREZGENE
  Q59H14 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q15575 UniProtKB/Swiss-Prot
  Q15576 UniProtKB/Swiss-Prot


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