ILKAP (ILK associated serine/threonine phosphatase) - Rat Genome Database

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Gene: ILKAP (ILK associated serine/threonine phosphatase) Homo sapiens
Analyze
Symbol: ILKAP
Name: ILK associated serine/threonine phosphatase
RGD ID: 731849
HGNC Page HGNC:15566
Description: Predicted to enable kinase activity; metal ion binding activity; and myosin phosphatase activity. Predicted to be involved in integrin-mediated signaling pathway; positive regulation of canonical Wnt signaling pathway; and regulation of canonical NF-kappaB signal transduction. Predicted to be located in cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434J2031; FLJ10181; ILKAP2; ILKAP3; integrin-linked kinase associated phosphatase; integrin-linked kinase-associated serine/threonine phosphatase 2C; MGC4846; PP2C-DELTA; PP2CD; PPM1O; protein phosphatase 2c; protein phosphatase 2c, delta isozyme
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,170,402 - 238,203,695 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,170,402 - 238,203,708 (-)EnsemblGRCh38hg38GRCh38
GRCh372239,079,043 - 239,112,336 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,743,782 - 238,777,063 (-)NCBINCBI36Build 36hg18NCBI36
Build 342238,861,043 - 238,894,324NCBI
Celera2232,791,584 - 232,824,882 (-)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2230,870,240 - 230,903,537 (-)NCBIHuRef
CHM1_12239,084,148 - 239,118,134 (-)NCBICHM1_1
T2T-CHM13v2.02238,660,143 - 238,693,437 (-)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
cytoplasm  (IEA)

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. ILK, PINCH and parvin: the tIPP of integrin signalling. Legate KR, etal., Nat Rev Mol Cell Biol. 2006 Jan;7(1):20-31.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9857069   PMID:11230166   PMID:11331582   PMID:12477932   PMID:14702039   PMID:14990992   PMID:15489334   PMID:15815621   PMID:17081983   PMID:18635968   PMID:19019082   PMID:21782789  
PMID:21873635   PMID:22359512   PMID:23329845   PMID:24743186   PMID:25872452   PMID:26344197   PMID:26460618   PMID:26496610   PMID:26638075   PMID:26752685   PMID:27503909   PMID:27880917  
PMID:28065597   PMID:28330616   PMID:28514442   PMID:29117863   PMID:29371914   PMID:29742494   PMID:29955894   PMID:30021884   PMID:30884312   PMID:32344865   PMID:32416067   PMID:32687490  
PMID:32807901   PMID:32814053   PMID:32994395   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34187934   PMID:34349018   PMID:34795231   PMID:35032548   PMID:35256949   PMID:35439318  
PMID:35831314   PMID:35906200   PMID:35944360   PMID:36089195   PMID:36215168   PMID:36373674   PMID:36597993   PMID:36835656   PMID:37059091   PMID:37108203   PMID:37827155   PMID:38113892  
PMID:38379270  


Genomics

Comparative Map Data
ILKAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,170,402 - 238,203,695 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,170,402 - 238,203,708 (-)EnsemblGRCh38hg38GRCh38
GRCh372239,079,043 - 239,112,336 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,743,782 - 238,777,063 (-)NCBINCBI36Build 36hg18NCBI36
Build 342238,861,043 - 238,894,324NCBI
Celera2232,791,584 - 232,824,882 (-)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2230,870,240 - 230,903,537 (-)NCBIHuRef
CHM1_12239,084,148 - 239,118,134 (-)NCBICHM1_1
T2T-CHM13v2.02238,660,143 - 238,693,437 (-)NCBIT2T-CHM13v2.0
Ilkap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39191,301,568 - 91,326,566 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl191,301,583 - 91,326,537 (-)EnsemblGRCm39 Ensembl
GRCm38191,373,846 - 91,398,844 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl191,373,861 - 91,398,815 (-)EnsemblGRCm38mm10GRCm38
MGSCv37193,272,408 - 93,295,360 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36193,206,237 - 93,229,189 (-)NCBIMGSCv36mm8
Celera194,312,974 - 94,349,943 (-)NCBICelera
Cytogenetic Map1DNCBI
cM Map146.11NCBI
Ilkap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8999,413,981 - 99,436,262 (-)NCBIGRCr8
mRatBN7.2991,966,440 - 91,988,791 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl991,966,441 - 91,988,892 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9100,393,225 - 100,415,489 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09105,528,983 - 105,551,247 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09103,892,577 - 103,914,843 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0998,514,599 - 98,536,586 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl998,514,584 - 98,536,581 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0998,190,668 - 98,212,634 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4990,602,949 - 90,626,753 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1990,807,717 - 90,831,522 (-)NCBI
Celera989,507,483 - 89,529,779 (-)NCBICelera
Cytogenetic Map9q36NCBI
Ilkap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555422,391,431 - 2,408,732 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555422,391,432 - 2,407,559 (+)NCBIChiLan1.0ChiLan1.0
ILKAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213140,802,982 - 140,836,441 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B140,817,949 - 140,851,383 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B125,403,220 - 125,436,614 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B244,253,970 - 244,278,317 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B244,253,970 - 244,278,317 (-)Ensemblpanpan1.1panPan2
ILKAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12548,666,850 - 48,689,405 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2548,666,849 - 48,689,381 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2549,162,771 - 49,185,336 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02549,052,924 - 49,075,502 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2549,052,925 - 49,075,569 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12548,928,074 - 48,950,661 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02548,716,721 - 48,739,506 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02548,948,767 - 48,971,334 (-)NCBIUU_Cfam_GSD_1.0
Ilkap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303190,617,020 - 190,641,591 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936525303,499 - 322,563 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936525303,436 - 322,677 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ILKAP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15137,740,292 - 137,765,784 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115137,740,291 - 137,765,758 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215152,222,010 - 152,247,435 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ILKAP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110124,191,926 - 124,225,735 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10124,190,785 - 124,225,678 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604075,190,863 - 75,224,901 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ilkap
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248473,320,788 - 3,344,705 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248473,321,400 - 3,344,725 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ILKAP
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-238287366)x3 copy number gain See cases [RCV000052730] Chr2:237643996..238287366 [GRCh38]
Chr2:238552639..239196007 [GRCh37]
Chr2:238217378..238860746 [NCBI36]
Chr2:2q37.3		 uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3 copy number gain See cases [RCV000052978] Chr2:237813997..240410487 [GRCh38]
Chr2:238722640..241349904 [GRCh37]
Chr2:238387379..240998577 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1 copy number loss See cases [RCV000137411] Chr2:234058757..239443690 [GRCh38]
Chr2:234967401..240365384 [GRCh37]
Chr2:234632140..240030321 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1 copy number loss See cases [RCV000137830] Chr2:235757098..239443690 [GRCh38]
Chr2:236665742..240365384 [GRCh37]
Chr2:236330481..240030321 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_030768.3(ILKAP):c.1047G>T (p.Lys349Asn) single nucleotide variant not specified [RCV004295760] Chr2:238170668 [GRCh38]
Chr2:239079309 [GRCh37]
Chr2:2q37.3		 uncertain significance
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 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3		 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 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239007990-239166847)x3 copy number gain See cases [RCV000511000] Chr2:239007990..239166847 [GRCh37]
Chr2:2q37.3		 uncertain significance
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
NM_030768.3(ILKAP):c.229G>A (p.Ala77Thr) single nucleotide variant not specified [RCV004313394] Chr2:238189922 [GRCh38]
Chr2:239098563 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.305C>T (p.Ser102Leu) single nucleotide variant not specified [RCV004281951] Chr2:238188251 [GRCh38]
Chr2:239096892 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.1055C>A (p.Thr352Asn) single nucleotide variant not specified [RCV004315989] Chr2:238170660 [GRCh38]
Chr2:239079301 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1 copy number loss not provided [RCV000682151] Chr2:237480048..241611309 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3		 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 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_030768.3(ILKAP):c.1080C>T (p.Asp360=) single nucleotide variant not provided [RCV000953344] Chr2:238170635 [GRCh38]
Chr2:239079276 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1 copy number loss not provided [RCV001007520] Chr2:234090049..239494702 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1 copy number loss not provided [RCV001007525] Chr2:236172348..241611309 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280740] Chr2:236472789..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1 copy number loss not provided [RCV001827851] Chr2:237499041..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NC_000002.11:g.(?_236877086)_(242801596_?)del deletion not provided [RCV001956380] Chr2:236877086..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NC_000002.11:g.(?_238233417)_(242801596_?)del deletion D-2-hydroxyglutaric aciduria 1 [RCV003120750]|Hereditary spastic paraplegia 30 [RCV001920651]|not provided [RCV001920650] Chr2:238233417..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_238233417)_(242800990_?)dup duplication D-2-hydroxyglutaric aciduria 1 [RCV001918744]|Hereditary spastic paraplegia 30 [RCV001942893] Chr2:238233417..242800990 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_236403331)_(242801596_?)dup duplication not provided [RCV001879163] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 uncertain significance
Single allele deletion Chromosome 2q37 deletion syndrome [RCV002247720] Chr2:236710422..242106504 [GRCh38]
Chr2:2q37.3		 pathogenic
NC_000002.11:g.(?_236403331)_(242801596_?)del deletion Bethlem myopathy 1A [RCV003113452] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280739] Chr2:233227837..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1 copy number loss not provided [RCV002473939] Chr2:236878509..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1 copy number loss not provided [RCV002472625] Chr2:235942616..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_030768.3(ILKAP):c.68A>G (p.Gln23Arg) single nucleotide variant not specified [RCV004134097] Chr2:238194858 [GRCh38]
Chr2:239103499 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.1090G>A (p.Glu364Lys) single nucleotide variant not specified [RCV004207370] Chr2:238170625 [GRCh38]
Chr2:239079266 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.226G>A (p.Gly76Arg) single nucleotide variant not specified [RCV004183162] Chr2:238189925 [GRCh38]
Chr2:239098566 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.891G>C (p.Gln297His) single nucleotide variant not specified [RCV004150906] Chr2:238173599 [GRCh38]
Chr2:239082240 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.1166G>A (p.Arg389Gln) single nucleotide variant not specified [RCV004177476] Chr2:238170549 [GRCh38]
Chr2:239079190 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.106A>G (p.Ser36Gly) single nucleotide variant not specified [RCV004283147] Chr2:238194820 [GRCh38]
Chr2:239103461 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.172G>A (p.Asp58Asn) single nucleotide variant not specified [RCV004260372] Chr2:238194281 [GRCh38]
Chr2:239102922 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.1078G>A (p.Asp360Asn) single nucleotide variant not specified [RCV004297771] Chr2:238170637 [GRCh38]
Chr2:239079278 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.742A>T (p.Ser248Cys) single nucleotide variant not specified [RCV004359897] Chr2:238182159 [GRCh38]
Chr2:239090800 [GRCh37]
Chr2:2q37.3		 uncertain significance
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238178706-239202040)x3 copy number gain not provided [RCV003484097] Chr2:238178706..239202040 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1 copy number loss not provided [RCV003485294] Chr2:238460671..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1 copy number loss not specified [RCV003986344] Chr2:236057846..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1 copy number loss not specified [RCV003986335] Chr2:236726690..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1 copy number loss See cases [RCV004442765] Chr2:235267074..242782258 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237577774-239670026)x3 copy number gain See cases [RCV004442768] Chr2:237577774..239670026 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_030768.3(ILKAP):c.225A>T (p.Lys75Asn) single nucleotide variant not specified [RCV004405368] Chr2:238189926 [GRCh38]
Chr2:239098567 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1 copy number loss not provided [RCV004577474] Chr2:236478472..243048854 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_030768.3(ILKAP):c.950A>G (p.Asn317Ser) single nucleotide variant not specified [RCV004405371] Chr2:238173540 [GRCh38]
Chr2:239082181 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.924C>G (p.Asp308Glu) single nucleotide variant not specified [RCV004405370] Chr2:238173566 [GRCh38]
Chr2:239082207 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.745C>A (p.Gln249Lys) single nucleotide variant not specified [RCV004405369] Chr2:238182156 [GRCh38]
Chr2:239090797 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_030768.3(ILKAP):c.856G>A (p.Val286Met) single nucleotide variant not specified [RCV004628119] Chr2:238173634 [GRCh38]
Chr2:239082275 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_237481970)_(242801596_?)del deletion Bethlem myopathy 1A [RCV004583694] Chr2:237481970..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1502
Count of miRNA genes:679
Interacting mature miRNAs:768
Transcripts:ENST00000254654, ENST00000450411, ENST00000457149, ENST00000463129, ENST00000465131, ENST00000466468, ENST00000467133, ENST00000479400, ENST00000490837, ENST00000498727
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407059249GWAS708225_Hphospholipid measurement QTL GWAS708225 (human)2e-08phospholipid measurement2238186781238186782Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
407389646GWAS1038622_Hacute myeloid leukemia QTL GWAS1038622 (human)1e-17acute myeloid leukemia2238170901238170902Human
407389495GWAS1038471_Hacute myeloid leukemia QTL GWAS1038471 (human)4e-30acute myeloid leukemia2238170901238170902Human

Markers in Region
SHGC-52537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,086,353 - 239,086,512UniSTSGRCh37
Build 362238,751,092 - 238,751,251RGDNCBI36
Celera2232,798,896 - 232,799,055RGD
Cytogenetic Map2q37.3UniSTS
HuRef2230,877,552 - 230,877,711UniSTS
TNG Radiation Hybrid Map2134243.0UniSTS
GeneMap99-G3 RH Map210106.0UniSTS
D2S1671E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,079,087 - 239,079,193UniSTSGRCh37
Build 362238,743,826 - 238,743,932RGDNCBI36
Celera2232,791,628 - 232,791,734RGD
Cytogenetic Map2q37.3UniSTS
HuRef2230,870,284 - 230,870,390UniSTS
GeneMap99-GB4 RH Map2741.4UniSTS
NCBI RH Map21892.2UniSTS
RH45648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,088,066 - 239,088,247UniSTSGRCh37
Build 362238,752,805 - 238,752,986RGDNCBI36
Celera2232,800,609 - 232,800,790RGD
Cytogenetic Map2q37.3UniSTS
HuRef2230,879,265 - 230,879,446UniSTS
GeneMap99-GB4 RH Map2737.67UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_030768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007082537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_923033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY024365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ491380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ491381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ658059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ658060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000254654   ⟹   ENSP00000254654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,170,402 - 238,203,695 (-)Ensembl
Ensembl Acc Id: ENST00000450411   ⟹   ENSP00000406254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,170,408 - 238,184,096 (-)Ensembl
Ensembl Acc Id: ENST00000457149   ⟹   ENSP00000395301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,183,723 - 238,203,708 (-)Ensembl
Ensembl Acc Id: ENST00000463129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,170,402 - 238,203,638 (-)Ensembl
Ensembl Acc Id: ENST00000465131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,170,402 - 238,173,926 (-)Ensembl
Ensembl Acc Id: ENST00000466468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,170,409 - 238,187,057 (-)Ensembl
Ensembl Acc Id: ENST00000467133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,189,698 - 238,203,695 (-)Ensembl
Ensembl Acc Id: ENST00000479400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,183,716 - 238,188,594 (-)Ensembl
Ensembl Acc Id: ENST00000490837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,194,409 - 238,203,695 (-)Ensembl
Ensembl Acc Id: ENST00000498727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,189,691 - 238,203,680 (-)Ensembl
Ensembl Acc Id: ENST00000612675   ⟹   ENSP00000477533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,170,403 - 238,203,683 (-)Ensembl
Ensembl Acc Id: ENST00000622223   ⟹   ENSP00000477542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,170,403 - 238,203,683 (-)Ensembl
RefSeq Acc Id: NM_030768   ⟹   NP_110395
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,170,402 - 238,203,695 (-)NCBI
GRCh372239,079,043 - 239,112,343 (-)NCBI
Build 362238,743,782 - 238,777,063 (-)NCBI Archive
Celera2232,791,584 - 232,824,882 (-)RGD
HuRef2230,870,240 - 230,903,537 (-)RGD
CHM1_12239,084,148 - 239,118,134 (-)NCBI
T2T-CHM13v2.02238,660,143 - 238,693,437 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712784   ⟹   XP_006712847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,170,402 - 238,194,826 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005057   ⟹   XP_016860546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,170,402 - 238,189,952 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005058   ⟹   XP_016860547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,170,402 - 238,189,972 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054344085   ⟹   XP_054200060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,660,143 - 238,684,568 (-)NCBI
RefSeq Acc Id: XM_054344086   ⟹   XP_054200061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,660,143 - 238,679,693 (-)NCBI
RefSeq Acc Id: XM_054344087   ⟹   XP_054200062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,660,143 - 238,679,713 (-)NCBI
RefSeq Acc Id: XR_007082537
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,173,551 - 238,203,695 (-)NCBI
RefSeq Acc Id: XR_008486540
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,663,292 - 238,693,437 (-)NCBI
RefSeq Acc Id: NP_110395   ⟸   NM_030768
- UniProtKB: B3KM39 (UniProtKB/Swiss-Prot),   Q9H0C8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712847   ⟸   XM_006712784
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016860546   ⟸   XM_017005057
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016860547   ⟸   XM_017005058
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000406254   ⟸   ENST00000450411
Ensembl Acc Id: ENSP00000254654   ⟸   ENST00000254654
Ensembl Acc Id: ENSP00000477542   ⟸   ENST00000622223
Ensembl Acc Id: ENSP00000477533   ⟸   ENST00000612675
Ensembl Acc Id: ENSP00000395301   ⟸   ENST00000457149
RefSeq Acc Id: XP_054200060   ⟸   XM_054344085
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200062   ⟸   XM_054344087
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200061   ⟸   XM_054344086
- Peptide Label: isoform X2
Protein Domains
PPM-type phosphatase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0C8-F1-model_v2 AlphaFold Q9H0C8 1-392 view protein structure

Promoters
RGD ID:6863266
Promoter ID:EPDNEW_H4798
Type:initiation region
Name:ILKAP_1
Description:ILK associated serine/threonine phosphatase
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
GRCh382238,203,695 - 238,203,755EPDNEW
RGD ID:6797641
Promoter ID:HG_KWN:38013
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000328474
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,746,891 - 238,747,882 (-)MPROMDB
RGD ID:6797660
Promoter ID:HG_KWN:38017
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000257163,   OTTHUMT00000328468,   OTTHUMT00000328469,   OTTHUMT00000328470,   OTTHUMT00000328471,   UC002VXW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,777,001 - 238,777,912 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15566 AgrOrtholog
COSMIC ILKAP COSMIC
Ensembl Genes ENSG00000132323 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000254654 ENTREZGENE
  ENST00000254654.8 UniProtKB/Swiss-Prot
  ENST00000450411.1 UniProtKB/TrEMBL
  ENST00000457149.1 UniProtKB/TrEMBL
  ENST00000612675.4 UniProtKB/TrEMBL
  ENST00000622223.4 UniProtKB/TrEMBL
Gene3D-CATH 3.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132323 GTEx
HGNC ID HGNC:15566 ENTREZGENE
Human Proteome Map ILKAP Human Proteome Map
InterPro PP2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2C_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPM-type_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPM-type_phosphatase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80895 UniProtKB/Swiss-Prot
NCBI Gene 80895 ENTREZGENE
OMIM 618909 OMIM
PANTHER INTEGRIN-LINKED KINASE-ASSOCIATED SERINE/THREONINE PHOSPHATASE 2C UniProtKB/TrEMBL
  PROTEIN PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN PHOSPHATASE 1B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13832 UniProtKB/TrEMBL
Pfam PP2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29856 PharmGKB
PROSITE PPM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PP2Cc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81606 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KM39 ENTREZGENE
  B8Y6Z5_HUMAN UniProtKB/TrEMBL
  B8Y6Z6_HUMAN UniProtKB/TrEMBL
  E9PC05_HUMAN UniProtKB/TrEMBL
  F8SNU6_HUMAN UniProtKB/TrEMBL
  F8SNU7_HUMAN UniProtKB/TrEMBL
  H7C2I8_HUMAN UniProtKB/TrEMBL
  ILKAP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KM39 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ILKAP  ILK associated serine/threonine phosphatase  ILKAP  integrin-linked kinase-associated serine/threonine phosphatase  Symbol and/or name change 5135510 APPROVED
2011-07-27 ILKAP  integrin-linked kinase-associated serine/threonine phosphatase  ILKAP  integrin-linked kinase-associated serine/threonine phosphatase 2C  Symbol and/or name change 5135510 APPROVED