WIPI2 (WD repeat domain, phosphoinositide interacting 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: WIPI2 (WD repeat domain, phosphoinositide interacting 2) Homo sapiens
Analyze
Symbol: WIPI2
Name: WD repeat domain, phosphoinositide interacting 2
RGD ID: 1606810
HGNC Page HGNC:32225
Description: Enables phosphatidylinositol-3,5-bisphosphate binding activity; phosphatidylinositol-3-phosphate binding activity; and phosphatidylinositol-5-phosphate binding activity. Involved in cellular response to starvation and protein localization to phagophore assembly site. Located in cytosol; nucleoplasm; and phagophore assembly site membrane. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATG18B; Atg21; CGI-50; DKFZp434J154; DKFZp686P02188; FLJ12979; FLJ14217; FLJ42984; IDDSSA; WD repeat domain phosphoinositide-interacting protein 2; WD40 repeat protein interacting with phosphoinositides 2; WIPI-2; WIPI49-like protein 2
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
GRCh3875,190,233 - 5,233,855 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl75,190,196 - 5,233,840 (+)EnsemblGRCh38hg38GRCh38
GRCh3775,229,864 - 5,273,486 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,196,361 - 5,240,012 (+)NCBINCBI36Build 36hg18NCBI36
Celera75,188,959 - 5,232,605 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef75,144,841 - 5,188,513 (+)NCBIHuRef
CHM1_175,229,458 - 5,273,114 (+)NCBICHM1_1
T2T-CHM13v2.075,307,988 - 5,351,615 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v275,276,190 - 5,319,841 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9847074   PMID:10810093   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:12853948   PMID:14702039   PMID:15489334   PMID:15489336   PMID:15602573   PMID:16169070  
PMID:16381901   PMID:18029348   PMID:20505359   PMID:20562859   PMID:21044950   PMID:21145461   PMID:21564513   PMID:21575909   PMID:21873635   PMID:22456507   PMID:22939629   PMID:24453475  
PMID:24954904   PMID:24991767   PMID:25147182   PMID:25233411   PMID:25233424   PMID:25416956   PMID:25462558   PMID:25578879   PMID:26186194   PMID:27370208   PMID:27609421   PMID:28065597  
PMID:28514442   PMID:28561066   PMID:28760651   PMID:28890335   PMID:29133525   PMID:29540532   PMID:29634932   PMID:30093494   PMID:30340022   PMID:30898011   PMID:30968111   PMID:31375263  
PMID:31519766   PMID:31617661   PMID:31723608   PMID:31732153   PMID:32296183   PMID:32323845   PMID:32437499   PMID:32876514   PMID:33226137   PMID:33499712   PMID:33961781   PMID:34502089  
PMID:34505572   PMID:35256949   PMID:35389758   PMID:35439318   PMID:36215168   PMID:36779422   PMID:36872914   PMID:36897256   PMID:37267103   PMID:37689310   PMID:37774976   PMID:37827155  
PMID:37989223   PMID:38280479   PMID:39152217  


Genomics

Comparative Map Data
WIPI2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3875,190,233 - 5,233,855 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl75,190,196 - 5,233,840 (+)EnsemblGRCh38hg38GRCh38
GRCh3775,229,864 - 5,273,486 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3675,196,361 - 5,240,012 (+)NCBINCBI36Build 36hg18NCBI36
Celera75,188,959 - 5,232,605 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef75,144,841 - 5,188,513 (+)NCBIHuRef
CHM1_175,229,458 - 5,273,114 (+)NCBICHM1_1
T2T-CHM13v2.075,307,988 - 5,351,615 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v275,276,190 - 5,319,841 (+)NCBI
Wipi2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395142,615,269 - 142,655,427 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5142,613,453 - 142,656,343 (+)EnsemblGRCm39 Ensembl
GRCm385142,629,533 - 142,669,672 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5142,627,698 - 142,670,588 (+)EnsemblGRCm38mm10GRCm38
MGSCv375143,105,538 - 143,145,326 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365142,882,057 - 142,921,846 (+)NCBIMGSCv36mm8
Celera5139,684,840 - 139,724,789 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map581.53NCBI
Wipi2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81217,024,876 - 17,053,306 (-)NCBIGRCr8
mRatBN7.21211,911,369 - 11,939,799 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1211,911,337 - 11,939,794 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1212,714,291 - 12,742,732 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01213,337,552 - 13,365,985 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01212,368,675 - 12,397,110 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01213,969,704 - 13,998,134 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1213,969,586 - 13,998,172 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01215,997,274 - 16,025,704 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,306,563 - 12,334,993 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11212,336,492 - 12,364,921 (-)NCBI
Celera1213,695,386 - 13,723,757 (-)NCBICelera
Cytogenetic Map12p11NCBI
Wipi2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546010,090,349 - 10,130,384 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546010,090,343 - 10,132,724 (+)NCBIChiLan1.0ChiLan1.0
WIPI2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2610,155,837 - 10,197,419 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1758,480,548 - 58,522,122 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v075,446,621 - 5,488,170 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.175,467,334 - 5,510,538 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl75,467,334 - 5,510,538 (+)Ensemblpanpan1.1panPan2
WIPI2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1612,656,469 - 12,698,623 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl612,658,239 - 12,698,734 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha614,127,107 - 14,169,430 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0612,792,644 - 12,834,821 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl612,792,652 - 12,834,919 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1612,603,540 - 12,645,764 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0612,536,719 - 12,578,660 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0612,813,373 - 12,855,416 (-)NCBIUU_Cfam_GSD_1.0
Wipi2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344140,918,058 - 140,955,730 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936765907,877 - 946,822 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936765909,118 - 946,788 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WIPI2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl33,800,186 - 3,834,413 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.133,800,170 - 3,830,973 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.234,487,181 - 4,517,990 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WIPI2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12816,504,557 - 16,558,670 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2816,502,435 - 16,558,650 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660905,423,866 - 5,470,061 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wipi2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474028,306,052 - 28,346,508 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474028,306,655 - 28,346,430 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WIPI2
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:4532619-5378373)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|See cases [RCV000052255] Chr7:4532619..5378373 [GRCh38]
Chr7:4572250..5418004 [GRCh37]
Chr7:4538776..5384530 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1 copy number loss See cases [RCV000052256] Chr7:5062000..6692258 [GRCh38]
Chr7:5101631..6731889 [GRCh37]
Chr7:5068157..6698414 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1 copy number loss See cases [RCV000052263] Chr7:5062000..5825183 [GRCh38]
Chr7:5101631..5864814 [GRCh37]
Chr7:5068157..5831340 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1 copy number loss See cases [RCV000052266] Chr7:5117519..5880375 [GRCh38]
Chr7:5157150..5920006 [GRCh37]
Chr7:5123676..5886532 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3 copy number gain See cases [RCV000053408] Chr7:4876621..6492003 [GRCh38]
Chr7:4916252..6531634 [GRCh37]
Chr7:4882778..6498159 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3 copy number gain See cases [RCV000663395] Chr7:4644965..5436368 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3 copy number gain See cases [RCV000135371] Chr7:5171797..5480926 [GRCh38]
Chr7:5211428..5520557 [GRCh37]
Chr7:5177954..5487083 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3 copy number gain See cases [RCV000137977] Chr7:4849987..5760088 [GRCh38]
Chr7:4889618..5799719 [GRCh37]
Chr7:4856144..5766245 [NCBI36]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.1(chr7:5089286-5331174)x1 copy number loss See cases [RCV000139044] Chr7:5089286..5331174 [GRCh38]
Chr7:5128917..5370805 [GRCh37]
Chr7:5095443..5337331 [NCBI36]
Chr7:7p22.1		 likely benign|conflicting data from submitters
GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3 copy number gain See cases [RCV000140259] Chr7:5171797..5635439 [GRCh38]
Chr7:5211428..5675070 [GRCh37]
Chr7:5177954..5641596 [NCBI36]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:4756391-5934779)x3 copy number gain See cases [RCV000448466] Chr7:4756391..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5268201-5803877)x3 copy number gain See cases [RCV000510522] Chr7:5268201..5803877 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_015610.4(WIPI2):c.1300G>A (p.Glu434Lys) single nucleotide variant not specified [RCV004304199] Chr7:5230882 [GRCh38]
Chr7:5270513 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5198327-5347753)x1 copy number loss not provided [RCV000682798] Chr7:5198327..5347753 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_015610.4(WIPI2):c.996C>T (p.Asn332=) single nucleotide variant WIPI2-related disorder [RCV003926090]|not provided [RCV000958894] Chr7:5227327 [GRCh38]
Chr7:5266958 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.1197A>G (p.Thr399=) single nucleotide variant WIPI2-related disorder [RCV003926091]|not provided [RCV000958895] Chr7:5229683 [GRCh38]
Chr7:5269314 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.382-9C>T single nucleotide variant WIPI2-related disorder [RCV003955849]|not provided [RCV000882317] Chr7:5216554 [GRCh38]
Chr7:5256185 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_015610.4(WIPI2):c.745G>A (p.Val249Met) single nucleotide variant Intellectual developmental disorder with short stature and variable skeletal anomalies [RCV000782105] Chr7:5225827 [GRCh38]
Chr7:5265458 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_015610.4(WIPI2):c.1284C>T (p.Gly428=) single nucleotide variant not provided [RCV000922418] Chr7:5230866 [GRCh38]
Chr7:5270497 [GRCh37]
Chr7:7p22.1		 likely benign
NM_015610.4(WIPI2):c.624G>A (p.Leu208=) single nucleotide variant WIPI2-related disorder [RCV003928480]|not provided [RCV000970158] Chr7:5217969 [GRCh38]
Chr7:5257600 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3 copy number gain not provided [RCV000845805] Chr7:5218459..6319917 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_015610.4(WIPI2):c.1267C>T (p.Leu423=) single nucleotide variant WIPI2-related disorder [RCV003915815]|not provided [RCV000952916] Chr7:5230849 [GRCh38]
Chr7:5270480 [GRCh37]
Chr7:7p22.1		 benign|likely benign
NM_015610.4(WIPI2):c.1053C>T (p.Asp351=) single nucleotide variant not provided [RCV000901388] Chr7:5228143 [GRCh38]
Chr7:5267774 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.397C>T (p.Leu133=) single nucleotide variant WIPI2-related disorder [RCV003910528]|not provided [RCV000888570] Chr7:5216578 [GRCh38]
Chr7:5256209 [GRCh37]
Chr7:7p22.1		 likely benign
NM_015610.4(WIPI2):c.1014-9T>G single nucleotide variant not provided [RCV000913405] Chr7:5228095 [GRCh38]
Chr7:5267726 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:5132817-5284485)x1 copy number loss not provided [RCV001259439] Chr7:5132817..5284485 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.724C>T (p.Arg242Trp) single nucleotide variant Intellectual developmental disorder with short stature and variable skeletal anomalies [RCV001332691] Chr7:5222656 [GRCh38]
Chr7:5262287 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5268201-5397816)x1 copy number loss not provided [RCV001259434] Chr7:5268201..5397816 [GRCh37]
Chr7:7p22.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_015610.4(WIPI2):c.1309G>A (p.Ala437Thr) single nucleotide variant not provided [RCV001356370] Chr7:5230891 [GRCh38]
Chr7:5270522 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.551T>G (p.Val184Gly) single nucleotide variant Intellectual developmental disorder with short stature and variable skeletal anomalies [RCV001774826] Chr7:5217162 [GRCh38]
Chr7:5256793 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1 copy number loss Astigmatism [RCV001801207] Chr7:5096876..5569338 [GRCh37]
Chr7:7p22.1		 pathogenic
NC_000007.13:g.5239584_5401976dup duplication Megacolon [RCV001290078] Chr7:5239584..5401976 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5122619-5284485) copy number loss not specified [RCV002053666] Chr7:5122619..5284485 [GRCh37]
Chr7:7p22.1		 uncertain significance
NC_000007.13:g.(?_4815347)_(5792630_?)dup duplication Baraitser-Winter syndrome 1 [RCV001978085] Chr7:4815347..5792630 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1 copy number loss not provided [RCV002475747] Chr7:4655928..5990874 [GRCh37]
Chr7:7p22.1		 pathogenic
NM_015610.4(WIPI2):c.535G>A (p.Ala179Thr) single nucleotide variant not specified [RCV004106294] Chr7:5217146 [GRCh38]
Chr7:5256777 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1291C>G (p.Leu431Val) single nucleotide variant not specified [RCV004106393] Chr7:5230873 [GRCh38]
Chr7:5270504 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.76G>A (p.Glu26Lys) single nucleotide variant not specified [RCV004189416] Chr7:5193119 [GRCh38]
Chr7:5232750 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.944A>G (p.Asn315Ser) single nucleotide variant not specified [RCV004338819] Chr7:5227275 [GRCh38]
Chr7:5266906 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1126G>C (p.Asp376His) single nucleotide variant not specified [RCV004346097] Chr7:5229612 [GRCh38]
Chr7:5269243 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.344A>G (p.Tyr115Cys) single nucleotide variant not specified [RCV004352010] Chr7:5214667 [GRCh38]
Chr7:5254298 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.74+2T>G single nucleotide variant Intellectual developmental disorder with short stature and variable skeletal anomalies [RCV003448765] Chr7:5190495 [GRCh38]
Chr7:5230126 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:4909470-5331753)x3 copy number gain not provided [RCV003484675] Chr7:4909470..5331753 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:5222869-5427128)x3 copy number gain not provided [RCV003484676] Chr7:5222869..5427128 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_015610.4(WIPI2):c.966G>A (p.Thr322=) single nucleotide variant not provided [RCV003433737] Chr7:5227297 [GRCh38]
Chr7:5266928 [GRCh37]
Chr7:7p22.1		 likely benign
NM_015610.4(WIPI2):c.789C>T (p.Leu263=) single nucleotide variant WIPI2-related disorder [RCV003966421]|not provided [RCV003423538] Chr7:5225871 [GRCh38]
Chr7:5265502 [GRCh37]
Chr7:7p22.1		 likely benign
NM_015610.4(WIPI2):c.778G>A (p.Gly260Ser) single nucleotide variant WIPI2-related disorder [RCV003911758] Chr7:5225860 [GRCh38]
Chr7:5265491 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.264G>A (p.Val88=) single nucleotide variant WIPI2-related disorder [RCV003974109] Chr7:5214587 [GRCh38]
Chr7:5254218 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.273C>G (p.Val91=) single nucleotide variant WIPI2-related disorder [RCV003974529] Chr7:5214596 [GRCh38]
Chr7:5254227 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.1083C>A (p.Pro361=) single nucleotide variant WIPI2-related disorder [RCV003962285] Chr7:5228173 [GRCh38]
Chr7:5267804 [GRCh37]
Chr7:7p22.1		 likely benign
NM_015610.4(WIPI2):c.597G>A (p.Pro199=) single nucleotide variant WIPI2-related disorder [RCV003974540] Chr7:5217942 [GRCh38]
Chr7:5257573 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.1174G>A (p.Asp392Asn) single nucleotide variant WIPI2-related disorder [RCV003976553] Chr7:5229660 [GRCh38]
Chr7:5269291 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.128+7T>G single nucleotide variant WIPI2-related disorder [RCV003922269] Chr7:5193178 [GRCh38]
Chr7:5232809 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.1121+7C>G single nucleotide variant WIPI2-related disorder [RCV003916990] Chr7:5228218 [GRCh38]
Chr7:5267849 [GRCh37]
Chr7:7p22.1		 benign
NM_015610.4(WIPI2):c.831C>T (p.Leu277=) single nucleotide variant not provided [RCV004547082] Chr7:5225913 [GRCh38]
Chr7:5265544 [GRCh37]
Chr7:7p22.1		 likely benign
NM_015610.4(WIPI2):c.461C>T (p.Thr154Met) single nucleotide variant not specified [RCV004482992] Chr7:5216642 [GRCh38]
Chr7:5256273 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.203A>C (p.Tyr68Ser) single nucleotide variant not specified [RCV004482991] Chr7:5199650 [GRCh38]
Chr7:5239281 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1316G>A (p.Arg439His) single nucleotide variant not specified [RCV004482990] Chr7:5230898 [GRCh38]
Chr7:5270529 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1285G>A (p.Ala429Thr) single nucleotide variant not specified [RCV004482989] Chr7:5230867 [GRCh38]
Chr7:5270498 [GRCh37]
Chr7:7p22.1		 likely benign
NM_015610.4(WIPI2):c.1231C>A (p.Pro411Thr) single nucleotide variant not specified [RCV004482988] Chr7:5229717 [GRCh38]
Chr7:5269348 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1102G>T (p.Ala368Ser) single nucleotide variant not specified [RCV004482987] Chr7:5228192 [GRCh38]
Chr7:5267823 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1139A>C (p.Glu380Ala) single nucleotide variant not specified [RCV004688773] Chr7:5229625 [GRCh38]
Chr7:5269256 [GRCh37]
Chr7:7p22.1		 uncertain significance
NC_000007.13:g.(?_4815347)_(5792630_?)del deletion Baraitser-Winter syndrome 1 [RCV004583510] Chr7:4815347..5792630 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.154G>T (p.Gly52Cys) single nucleotide variant not specified [RCV004678501] Chr7:5199601 [GRCh38]
Chr7:5239232 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.206A>C (p.Glu69Ala) single nucleotide variant not specified [RCV004678502] Chr7:5199653 [GRCh38]
Chr7:5239284 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.118G>A (p.Ala40Thr) single nucleotide variant not specified [RCV004890423] Chr7:5193161 [GRCh38]
Chr7:5232792 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.793G>A (p.Ala265Thr) single nucleotide variant not specified [RCV004876987] Chr7:5225875 [GRCh38]
Chr7:5265506 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.485G>T (p.Cys162Phe) single nucleotide variant not specified [RCV004876988] Chr7:5217096 [GRCh38]
Chr7:5256727 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1345A>C (p.Met449Leu) single nucleotide variant not specified [RCV004876984] Chr7:5230927 [GRCh38]
Chr7:5270558 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1355G>A (p.Arg452Gln) single nucleotide variant not specified [RCV004876985] Chr7:5230937 [GRCh38]
Chr7:5270568 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.496A>G (p.Ile166Val) single nucleotide variant not specified [RCV004876986] Chr7:5217107 [GRCh38]
Chr7:5256738 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1222A>C (p.Thr408Pro) single nucleotide variant not specified [RCV004876989] Chr7:5229708 [GRCh38]
Chr7:5269339 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_015610.4(WIPI2):c.1267C>G (p.Leu423Val) single nucleotide variant not specified [RCV004876990] Chr7:5230849 [GRCh38]
Chr7:5270480 [GRCh37]
Chr7:7p22.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4366
Count of miRNA genes:1179
Interacting mature miRNAs:1504
Transcripts:ENST00000288828, ENST00000382384, ENST00000401525, ENST00000404704, ENST00000465102, ENST00000466014, ENST00000471851, ENST00000475309, ENST00000479690, ENST00000480238, ENST00000484262, ENST00000485854, ENST00000488359, ENST00000496867
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
597584654GWAS1641514_Hmean corpuscular hemoglobin concentration QTL GWAS1641514 (human)1e-23mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751919975191998Human
406988048GWAS637024_Hreticulocyte count QTL GWAS637024 (human)5e-13reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)752297935229794Human
1643402BMD2_HBone mineral density QTL 2 (human)2.690.0002Bone mineral density7122435431Human
597084545GWAS1180619_Hreticulocyte measurement QTL GWAS1180619 (human)2e-33reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)751953345195335Human
597112398GWAS1208472_Herythrocyte count QTL GWAS1208472 (human)3e-19erythrocyte countred blood cell count (CMO:0000025)751919975191998Human
406976216GWAS625192_Hmean corpuscular hemoglobin QTL GWAS625192 (human)1e-13mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)751950315195032Human
597336710GWAS1432784_HRS-10-hydroxywarfarin measurement QTL GWAS1432784 (human)1e-08RS-10-hydroxywarfarin measurement752069145206915Human
406987743GWAS636719_Hmean corpuscular hemoglobin concentration QTL GWAS636719 (human)2e-21mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751950315195032Human
597084983GWAS1181057_Hmean corpuscular hemoglobin QTL GWAS1181057 (human)1e-52mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)751947315194732Human
597336635GWAS1432709_HRS-10-hydroxywarfarin to RS-warfarin ratio measurement QTL GWAS1432709 (human)0.000002RS-10-hydroxywarfarin to RS-warfarin ratio measurement752034315203432Human
406975267GWAS624243_Hreticulocyte count QTL GWAS624243 (human)2e-12reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)751950315195032Human
597304952GWAS1401026_Herythrocyte count QTL GWAS1401026 (human)2e-13erythrocyte countred blood cell count (CMO:0000025)752297935229794Human
407123041GWAS772017_Hmean corpuscular hemoglobin QTL GWAS772017 (human)3e-58mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)751947315194732Human
1643391BW322_HBody weight QTL 322 (human)2.690.0002Body fat amount7122435431Human
406996331GWAS645307_Hmean corpuscular hemoglobin concentration QTL GWAS645307 (human)2e-71mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751950315195032Human
406988329GWAS637305_Hmean corpuscular hemoglobin concentration QTL GWAS637305 (human)5e-74mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751953345195335Human
597303860GWAS1399934_Hmean corpuscular hemoglobin QTL GWAS1399934 (human)2e-41mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)751947315194732Human
406997101GWAS646077_Hmean corpuscular hemoglobin concentration QTL GWAS646077 (human)9e-20mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751953345195335Human
597048742GWAS1144816_Herythrocyte count QTL GWAS1144816 (human)4e-19red blood cell density measurementred blood cell count (CMO:0000025)751919975191998Human
597139815GWAS1235889_Hsmoking initiation QTL GWAS1235889 (human)8e-13smoking initiation752124405212441Human
597302632GWAS1398706_Hmean corpuscular hemoglobin concentration QTL GWAS1398706 (human)9e-11mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751947315194732Human
597583597GWAS1640457_Hmean corpuscular hemoglobin concentration QTL GWAS1640457 (human)2e-27mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751919975191998Human
1643247BW130_HBody Weight QTL 130 (human)1.280.008Body weightbody mass index7117453493Human
597598184GWAS1655044_Hmean corpuscular hemoglobin concentration QTL GWAS1655044 (human)3e-12mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751919975191998Human
597143649GWAS1239723_Hsmoking initiation QTL GWAS1239723 (human)3e-10smoking initiation751957745195775Human
597079340GWAS1175414_Hmean corpuscular hemoglobin concentration QTL GWAS1175414 (human)4e-17mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751947315194732Human
597275235GWAS1371309_Heducational attainment QTL GWAS1371309 (human)2e-10educational attainment752338335233834Human
597604325GWAS1661185_Herythrocyte count QTL GWAS1661185 (human)1e-14erythrocyte countred blood cell count (CMO:0000025)751919975191998Human
597584485GWAS1641345_Hmean corpuscular hemoglobin concentration QTL GWAS1641345 (human)4e-30mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)751919975191998Human

Markers in Region
RH93080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,273,164 - 5,273,327UniSTSGRCh37
Build 3675,239,690 - 5,239,853RGDNCBI36
Celera75,232,283 - 5,232,446RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,188,191 - 5,188,354UniSTS
CRA_TCAGchr7v275,319,519 - 5,319,682UniSTS
RH12207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,270,620 - 5,270,770UniSTSGRCh37
Build 3675,237,146 - 5,237,296RGDNCBI36
Celera75,229,739 - 5,229,889RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,185,647 - 5,185,797UniSTS
CRA_TCAGchr7v275,316,975 - 5,317,125UniSTS
GeneMap99-GB4 RH Map735.51UniSTS
NCBI RH Map788.2UniSTS
WI-20761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,273,131 - 5,273,392UniSTSGRCh37
Build 3675,239,657 - 5,239,918RGDNCBI36
Celera75,232,250 - 5,232,511RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,188,158 - 5,188,419UniSTS
CRA_TCAGchr7v275,319,486 - 5,319,747UniSTS
GeneMap99-GB4 RH Map735.73UniSTS
Whitehead-RH Map732.8UniSTS
NCBI RH Map788.2UniSTS
WI-17069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,270,473 - 5,270,603UniSTSGRCh37
Build 3675,236,999 - 5,237,129RGDNCBI36
Celera75,229,592 - 5,229,722RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,185,500 - 5,185,630UniSTS
CRA_TCAGchr7v275,316,828 - 5,316,958UniSTS
GeneMap99-GB4 RH Map735.03UniSTS
Whitehead-RH Map732.3UniSTS
NCBI RH Map788.2UniSTS
A003P36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,273,146 - 5,273,263UniSTSGRCh37
Build 3675,239,672 - 5,239,789RGDNCBI36
Celera75,232,265 - 5,232,382RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,188,173 - 5,188,290UniSTS
CRA_TCAGchr7v275,319,501 - 5,319,618UniSTS
GeneMap99-GB4 RH Map733.87UniSTS
Whitehead-RH Map733.1UniSTS
RH45406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,271,157 - 5,271,380UniSTSGRCh37
Build 3675,237,683 - 5,237,906RGDNCBI36
Celera75,230,276 - 5,230,499RGD
Cytogenetic Map7p22.1UniSTS
HuRef75,186,184 - 5,186,407UniSTS
CRA_TCAGchr7v275,317,512 - 5,317,735UniSTS
GeneMap99-GB4 RH Map737.29UniSTS
NCBI RH Map7133.7UniSTS


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_001033518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001033519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001033520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI074985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY691425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY691426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI561383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000288828   ⟹   ENSP00000288828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,190,233 - 5,233,840 (+)Ensembl
Ensembl Acc Id: ENST00000382384   ⟹   ENSP00000371821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,190,273 - 5,231,470 (+)Ensembl
Ensembl Acc Id: ENST00000401525   ⟹   ENSP00000384945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,190,196 - 5,231,524 (+)Ensembl
Ensembl Acc Id: ENST00000404704   ⟹   ENSP00000385297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,190,246 - 5,231,104 (+)Ensembl
Ensembl Acc Id: ENST00000465102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,214,561 - 5,222,812 (+)Ensembl
Ensembl Acc Id: ENST00000466014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,190,259 - 5,230,947 (+)Ensembl
Ensembl Acc Id: ENST00000471851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,225,950 - 5,231,723 (+)Ensembl
Ensembl Acc Id: ENST00000475309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,214,186 - 5,219,031 (+)Ensembl
Ensembl Acc Id: ENST00000479690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,229,408 - 5,231,327 (+)Ensembl
Ensembl Acc Id: ENST00000480238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,216,172 - 5,225,854 (+)Ensembl
Ensembl Acc Id: ENST00000484262   ⟹   ENSP00000429654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,214,269 - 5,231,064 (+)Ensembl
Ensembl Acc Id: ENST00000485854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,190,265 - 5,214,702 (+)Ensembl
Ensembl Acc Id: ENST00000488359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,216,591 - 5,225,978 (+)Ensembl
Ensembl Acc Id: ENST00000496867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl75,190,693 - 5,218,013 (+)Ensembl
RefSeq Acc Id: NM_001033518   ⟹   NP_001028690
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,190,233 - 5,233,840 (+)NCBI
GRCh3775,229,835 - 5,273,486 (+)RGD
Build 3675,196,361 - 5,240,012 (+)NCBI Archive
Celera75,188,959 - 5,232,605 (+)RGD
HuRef75,144,841 - 5,188,513 (+)RGD
CHM1_175,229,458 - 5,273,114 (+)NCBI
T2T-CHM13v2.075,307,988 - 5,351,600 (+)NCBI
CRA_TCAGchr7v275,276,190 - 5,319,841 (+)RGD
Sequence:
RefSeq Acc Id: NM_001033519   ⟹   NP_001028691
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,190,233 - 5,233,840 (+)NCBI
GRCh3775,229,835 - 5,273,486 (+)RGD
Build 3675,196,361 - 5,240,012 (+)NCBI Archive
Celera75,188,959 - 5,232,605 (+)RGD
HuRef75,144,841 - 5,188,513 (+)RGD
CHM1_175,229,458 - 5,273,114 (+)NCBI
T2T-CHM13v2.075,307,988 - 5,351,600 (+)NCBI
CRA_TCAGchr7v275,276,190 - 5,319,841 (+)RGD
Sequence:
RefSeq Acc Id: NM_001033520   ⟹   NP_001028692
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,214,269 - 5,233,855 (+)NCBI
GRCh3775,229,835 - 5,273,486 (+)RGD
Build 3675,220,426 - 5,240,012 (+)NCBI Archive
Celera75,188,959 - 5,232,605 (+)RGD
HuRef75,144,841 - 5,188,513 (+)RGD
CHM1_175,253,534 - 5,273,114 (+)NCBI
T2T-CHM13v2.075,332,014 - 5,351,615 (+)NCBI
CRA_TCAGchr7v275,276,190 - 5,319,841 (+)RGD
Sequence:
RefSeq Acc Id: NM_001278299   ⟹   NP_001265228
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,190,233 - 5,233,840 (+)NCBI
GRCh3775,229,835 - 5,273,486 (+)NCBI
HuRef75,144,841 - 5,188,513 (+)NCBI
CHM1_175,229,458 - 5,273,114 (+)NCBI
T2T-CHM13v2.075,307,988 - 5,351,600 (+)NCBI
CRA_TCAGchr7v275,276,190 - 5,319,841 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015610   ⟹   NP_056425
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,190,233 - 5,233,840 (+)NCBI
GRCh3775,229,835 - 5,273,486 (+)RGD
Build 3675,196,361 - 5,240,012 (+)NCBI Archive
Celera75,188,959 - 5,232,605 (+)RGD
HuRef75,144,841 - 5,188,513 (+)RGD
CHM1_175,229,458 - 5,273,114 (+)NCBI
T2T-CHM13v2.075,307,988 - 5,351,600 (+)NCBI
CRA_TCAGchr7v275,276,190 - 5,319,841 (+)RGD
Sequence:
RefSeq Acc Id: NM_016003   ⟹   NP_057087
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,190,233 - 5,233,840 (+)NCBI
GRCh3775,229,835 - 5,273,486 (+)RGD
Build 3675,196,361 - 5,240,012 (+)NCBI Archive
Celera75,188,959 - 5,232,605 (+)RGD
HuRef75,144,841 - 5,188,513 (+)RGD
CHM1_175,229,458 - 5,273,114 (+)NCBI
T2T-CHM13v2.075,307,988 - 5,351,600 (+)NCBI
CRA_TCAGchr7v275,276,190 - 5,319,841 (+)RGD
Sequence:
RefSeq Acc Id: XM_006715685   ⟹   XP_006715748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,190,233 - 5,233,855 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054357839   ⟹   XP_054213814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.075,307,988 - 5,351,615 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001028690 (Get FASTA)   NCBI Sequence Viewer  
  NP_001028691 (Get FASTA)   NCBI Sequence Viewer  
  NP_001028692 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265228 (Get FASTA)   NCBI Sequence Viewer  
  NP_056425 (Get FASTA)   NCBI Sequence Viewer  
  NP_057087 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715748 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213814 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD34045 (Get FASTA)   NCBI Sequence Viewer  
  AAH04116 (Get FASTA)   NCBI Sequence Viewer  
  AAH07596 (Get FASTA)   NCBI Sequence Viewer  
  AAH21200 (Get FASTA)   NCBI Sequence Viewer  
  AAQ96865 (Get FASTA)   NCBI Sequence Viewer  
  AAQ96866 (Get FASTA)   NCBI Sequence Viewer  
  AAQ96867 (Get FASTA)   NCBI Sequence Viewer  
  AAV80761 (Get FASTA)   NCBI Sequence Viewer  
  AAV80762 (Get FASTA)   NCBI Sequence Viewer  
  BAC86012 (Get FASTA)   NCBI Sequence Viewer  
  BAG51152 (Get FASTA)   NCBI Sequence Viewer  
  BAG51284 (Get FASTA)   NCBI Sequence Viewer  
  CAB45746 (Get FASTA)   NCBI Sequence Viewer  
  CAG38561 (Get FASTA)   NCBI Sequence Viewer  
  CAH56163 (Get FASTA)   NCBI Sequence Viewer  
  EAW87324 (Get FASTA)   NCBI Sequence Viewer  
  EAW87325 (Get FASTA)   NCBI Sequence Viewer  
  EAW87326 (Get FASTA)   NCBI Sequence Viewer  
  EAW87327 (Get FASTA)   NCBI Sequence Viewer  
  EAW87328 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000288828
  ENSP00000288828.4
  ENSP00000371821
  ENSP00000371821.2
  ENSP00000384945
  ENSP00000384945.3
  ENSP00000385297
  ENSP00000385297.3
  ENSP00000429654
  ENSP00000429654.1
GenBank Protein Q9Y4P8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_056425   ⟸   NM_015610
- Peptide Label: isoform a
- UniProtKB: Q96IE4 (UniProtKB/Swiss-Prot),   Q75L50 (UniProtKB/Swiss-Prot),   Q6FI96 (UniProtKB/Swiss-Prot),   Q5MNZ8 (UniProtKB/Swiss-Prot),   B3KNC2 (UniProtKB/Swiss-Prot),   Q9Y364 (UniProtKB/Swiss-Prot),   Q9Y4P8 (UniProtKB/Swiss-Prot),   B3KMZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001028690   ⟸   NM_001033518
- Peptide Label: isoform c
- UniProtKB: B3KMZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057087   ⟸   NM_016003
- Peptide Label: isoform b
- UniProtKB: B3KMZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001028691   ⟸   NM_001033519
- Peptide Label: isoform d
- UniProtKB: B3KMZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001028692   ⟸   NM_001033520
- Peptide Label: isoform e
- UniProtKB: B3KMZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265228   ⟸   NM_001278299
- Peptide Label: isoform f
- UniProtKB: Q9Y4P8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006715748   ⟸   XM_006715685
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000384945   ⟸   ENST00000401525
Ensembl Acc Id: ENSP00000385297   ⟸   ENST00000404704
Ensembl Acc Id: ENSP00000429654   ⟸   ENST00000484262
Ensembl Acc Id: ENSP00000288828   ⟸   ENST00000288828
Ensembl Acc Id: ENSP00000371821   ⟸   ENST00000382384
RefSeq Acc Id: XP_054213814   ⟸   XM_054357839
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y4P8-F1-model_v2 AlphaFold Q9Y4P8 1-454 view protein structure

Promoters
RGD ID:7209857
Promoter ID:EPDNEW_H10674
Type:initiation region
Name:WIPI2_1
Description:WD repeat domain, phosphoinositide interacting 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10675  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,190,233 - 5,190,293EPDNEW
RGD ID:6806408
Promoter ID:HG_KWN:56134
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001033518,   NM_001033519,   OTTHUMT00000241669,   OTTHUMT00000323971,   OTTHUMT00000324003,   OTTHUMT00000324004,   UC010KSV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3675,196,034 - 5,196,534 (+)MPROMDB
RGD ID:7209859
Promoter ID:EPDNEW_H10675
Type:multiple initiation site
Name:WIPI2_2
Description:WD repeat domain, phosphoinositide interacting 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10674  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3875,214,104 - 5,214,164EPDNEW
RGD ID:6806407
Promoter ID:HG_KWN:56140
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000324007
Position:
Human AssemblyChrPosition (strand)Source
Build 3675,235,629 - 5,236,129 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32225 AgrOrtholog
COSMIC WIPI2 COSMIC
Ensembl Genes ENSG00000157954 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000288828 ENTREZGENE
  ENST00000288828.9 UniProtKB/Swiss-Prot
  ENST00000382384 ENTREZGENE
  ENST00000382384.6 UniProtKB/Swiss-Prot
  ENST00000401525 ENTREZGENE
  ENST00000401525.7 UniProtKB/Swiss-Prot
  ENST00000404704 ENTREZGENE
  ENST00000404704.7 UniProtKB/Swiss-Prot
  ENST00000484262 ENTREZGENE
  ENST00000484262.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157954 GTEx
HGNC ID HGNC:32225 ENTREZGENE
Human Proteome Map WIPI2 Human Proteome Map
InterPro PROPPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26100 UniProtKB/Swiss-Prot
NCBI Gene 26100 ENTREZGENE
OMIM 609225 OMIM
PANTHER WD-REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSIDES WIPI -RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PROPPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670576 PharmGKB
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KMZ0 ENTREZGENE, UniProtKB/TrEMBL
  B3KNC2 ENTREZGENE
  L8E8Q1_HUMAN UniProtKB/TrEMBL
  Q5MNZ8 ENTREZGENE
  Q6FI96 ENTREZGENE
  Q75L50 ENTREZGENE
  Q96IE4 ENTREZGENE
  Q9Y364 ENTREZGENE
  Q9Y4P8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KNC2 UniProtKB/Swiss-Prot
  Q5MNZ8 UniProtKB/Swiss-Prot
  Q6FI96 UniProtKB/Swiss-Prot
  Q75L50 UniProtKB/Swiss-Prot
  Q96IE4 UniProtKB/Swiss-Prot
  Q9Y364 UniProtKB/Swiss-Prot