WDR12 (WD repeat domain 12) - Rat Genome Database

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Gene: WDR12 (WD repeat domain 12) Homo sapiens
Analyze
Symbol: WDR12
Name: WD repeat domain 12
RGD ID: 1353160
HGNC Page HGNC:14098
Description: Predicted to enable ribonucleoprotein complex binding activity. Involved in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); and regulation of cell cycle. Located in nucleolus and nucleoplasm. Part of PeBoW complex and preribosome, large subunit precursor.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ10881; FLJ12719; FLJ12720; ribosome biogenesis protein WDR12; WD repeat-containing protein 12; YTM1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100128335   LOC100419096   LOC100419174  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382202,874,261 - 202,911,673 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2202,874,261 - 203,014,798 (-)EnsemblGRCh38hg38GRCh38
GRCh372203,738,984 - 203,776,396 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362203,453,575 - 203,484,639 (-)NCBINCBI36Build 36hg18NCBI36
Build 342203,570,835 - 203,601,900NCBI
Celera2197,498,009 - 197,529,627 (-)NCBICelera
Cytogenetic Map2q33.2NCBI
HuRef2195,592,185 - 195,623,787 (-)NCBIHuRef
CHM1_12203,751,915 - 203,783,565 (-)NCBICHM1_1
T2T-CHM13v2.02203,355,718 - 203,393,126 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-alpha-phellandrene  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
arsenous acid  (EXP)
Benoxacor  (ISO)
benzatropine  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chromium(6+)  (ISO)
clofibric acid  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
endosulfan  (ISO)
enzalutamide  (EXP)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
flutamide  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
haloperidol  (EXP)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium dichromate  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
tungsten  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleolus  (IDA,IEA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IEA)
PeBoW complex  (IBA,IDA,IEA)
preribosome, large subunit precursor  (IBA,IDA,IEA)

Molecular Function

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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11790298   PMID:11827460   PMID:12429849   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15635413   PMID:16043514   PMID:16738141   PMID:17041588   PMID:17353269   PMID:18258596  
PMID:19198609   PMID:20738937   PMID:20971364   PMID:21378990   PMID:21873635   PMID:22199357   PMID:22586326   PMID:22863883   PMID:22939629   PMID:22952844   PMID:24262325   PMID:24457600  
PMID:25665578   PMID:25693804   PMID:25825154   PMID:25900982   PMID:25915632   PMID:26186194   PMID:26344197   PMID:26601951   PMID:26678539   PMID:27248496   PMID:27926873   PMID:28077445  
PMID:28514442   PMID:29298432   PMID:29395067   PMID:29509190   PMID:29568061   PMID:29802200   PMID:30021884   PMID:30463901   PMID:30554943   PMID:30940648   PMID:30948266   PMID:31091453  
PMID:31343991   PMID:31527615   PMID:31586073   PMID:31665637   PMID:32180229   PMID:32707033   PMID:32807901   PMID:32814053   PMID:32877691   PMID:33060197   PMID:33226137   PMID:33239621  
PMID:33545068   PMID:33957083   PMID:33961781   PMID:34373451   PMID:34578187   PMID:34709727   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35819319   PMID:35850772   PMID:36089195  
PMID:36114006   PMID:36215168   PMID:36244648   PMID:36424410   PMID:36526897   PMID:36543142   PMID:36774506   PMID:36912080   PMID:37536630   PMID:37689310   PMID:37827155   PMID:38172120  


Genomics

Comparative Map Data
WDR12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382202,874,261 - 202,911,673 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2202,874,261 - 203,014,798 (-)EnsemblGRCh38hg38GRCh38
GRCh372203,738,984 - 203,776,396 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362203,453,575 - 203,484,639 (-)NCBINCBI36Build 36hg18NCBI36
Build 342203,570,835 - 203,601,900NCBI
Celera2197,498,009 - 197,529,627 (-)NCBICelera
Cytogenetic Map2q33.2NCBI
HuRef2195,592,185 - 195,623,787 (-)NCBIHuRef
CHM1_12203,751,915 - 203,783,565 (-)NCBICHM1_1
T2T-CHM13v2.02203,355,718 - 203,393,126 (-)NCBIT2T-CHM13v2.0
Wdr12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39160,110,520 - 60,137,659 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl160,108,944 - 60,137,804 (-)EnsemblGRCm39 Ensembl
GRCm38160,071,361 - 60,098,500 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl160,069,785 - 60,098,645 (-)EnsemblGRCm38mm10GRCm38
MGSCv37160,133,712 - 60,154,722 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36160,021,414 - 60,042,424 (-)NCBIMGSCv36mm8
Celera160,592,628 - 60,613,639 (-)NCBICelera
Cytogenetic Map1C2NCBI
cM Map130.45NCBI
Wdr12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8968,969,547 - 68,996,811 (-)NCBIGRCr8
mRatBN7.2961,475,498 - 61,502,762 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl961,475,517 - 61,502,469 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx969,976,060 - 70,003,966 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0975,091,621 - 75,119,527 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0973,410,328 - 73,438,234 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0966,851,499 - 66,878,534 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl966,851,940 - 66,877,972 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0966,665,603 - 66,691,634 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4958,614,192 - 58,641,597 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1958,761,173 - 58,788,579 (-)NCBI
Celera958,910,009 - 58,934,061 (-)NCBICelera
Cytogenetic Map9q32NCBI
Wdr12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545711,947,915 - 11,971,805 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545711,947,816 - 11,970,066 (+)NCBIChiLan1.0ChiLan1.0
WDR12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213105,483,663 - 105,514,951 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B105,496,501 - 105,530,558 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B90,112,037 - 90,145,520 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B208,260,696 - 208,292,604 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B208,260,696 - 208,291,783 (-)Ensemblpanpan1.1panPan2
WDR12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13711,762,598 - 11,787,025 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3711,762,777 - 11,786,933 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3712,646,140 - 12,670,826 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03711,699,520 - 11,724,283 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3711,695,221 - 11,723,916 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13711,655,780 - 11,680,470 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03711,627,136 - 11,651,850 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03711,621,045 - 11,645,767 (-)NCBIUU_Cfam_GSD_1.0
Wdr12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303159,960,936 - 159,988,288 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367261,931,183 - 1,958,215 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367261,931,221 - 1,958,457 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WDR12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15106,380,755 - 106,410,416 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115106,380,748 - 106,410,723 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215117,834,705 - 117,860,610 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WDR12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11088,616,540 - 88,649,743 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1088,616,797 - 88,649,418 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040110,738,393 - 110,768,906 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wdr12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476513,504,533 - 13,531,200 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476513,504,347 - 13,532,418 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WDR12
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2		 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 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2		 pathogenic
GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1 copy number loss See cases [RCV000136892] Chr2:202631428..204929860 [GRCh38]
Chr2:203496151..205794583 [GRCh37]
Chr2:203204396..205502828 [NCBI36]
Chr2:2q33.2-33.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 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 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 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 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_018256.4(WDR12):c.430A>G (p.Lys144Glu) single nucleotide variant Inborn genetic diseases [RCV003258147] Chr2:202897324 [GRCh38]
Chr2:203762047 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.28A>G (p.Thr10Ala) single nucleotide variant Inborn genetic diseases [RCV003256359] Chr2:202911449 [GRCh38]
Chr2:203776172 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.421G>A (p.Asp141Asn) single nucleotide variant Inborn genetic diseases [RCV003280117] Chr2:202897333 [GRCh38]
Chr2:203762056 [GRCh37]
Chr2:2q33.2		 uncertain significance
Single allele deletion Pulmonary arterial hypertension [RCV001004041] Chr2:203228906..203905293 [GRCh37]
Chr2:2q33.1-33.2		 likely pathogenic
GRCh37/hg19 2q33.1-33.2(chr2:203065308-204366776)x3 copy number gain not provided [RCV000740848] Chr2:203065308..204366776 [GRCh37]
Chr2:2q33.1-33.2		 benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q33.2(chr2:203753937-203816438)x1 copy number loss not provided [RCV001005370] Chr2:203753937..203816438 [GRCh37]
Chr2:2q33.2		 uncertain significance
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 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NC_000002.11:g.(?_201943606)_(204824322_?)dup duplication Autoimmune lymphoproliferative syndrome type 2B [RCV003105677]|Immunodeficiency, common variable, 1 [RCV003122553] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2		 uncertain significance
Single allele deletion Pulmonary arterial hypertension [RCV001004034] Chr2:202772963..205218660 [GRCh37]
Chr2:2q33.1-33.3		 pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3		 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 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NC_000002.11:g.(?_203420070)_(211811277_?)del deletion Primary pulmonary hypertension [RCV002016799] Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34		 uncertain significance
NC_000002.11:g.(?_201943606)_(204824322_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [RCV001950956]|Autoimmune lymphoproliferative syndrome type 2B [RCV001950955]|Immunodeficiency, common variable, 1 [RCV003120780] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2		 pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_018256.4(WDR12):c.1190C>G (p.Thr397Arg) single nucleotide variant Inborn genetic diseases [RCV002879729] Chr2:202882715 [GRCh38]
Chr2:203747438 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.370C>T (p.Arg124Trp) single nucleotide variant Inborn genetic diseases [RCV002761950] Chr2:202897384 [GRCh38]
Chr2:203762107 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.100A>G (p.Ser34Gly) single nucleotide variant Inborn genetic diseases [RCV002789314] Chr2:202907901 [GRCh38]
Chr2:203772624 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.422A>G (p.Asp141Gly) single nucleotide variant Inborn genetic diseases [RCV002709570] Chr2:202897332 [GRCh38]
Chr2:203762055 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.932G>A (p.Arg311His) single nucleotide variant Inborn genetic diseases [RCV002742421] Chr2:202884254 [GRCh38]
Chr2:203748977 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.49G>A (p.Val17Ile) single nucleotide variant Inborn genetic diseases [RCV002964998] Chr2:202907952 [GRCh38]
Chr2:203772675 [GRCh37]
Chr2:2q33.2		 likely benign
NM_018256.4(WDR12):c.1227G>T (p.Leu409Phe) single nucleotide variant Inborn genetic diseases [RCV002877745] Chr2:202880905 [GRCh38]
Chr2:203745628 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.863G>A (p.Gly288Asp) single nucleotide variant Inborn genetic diseases [RCV002807491] Chr2:202884414 [GRCh38]
Chr2:203749137 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.1129G>C (p.Ala377Pro) single nucleotide variant Inborn genetic diseases [RCV002655176] Chr2:202882776 [GRCh38]
Chr2:203747499 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.668A>T (p.Glu223Val) single nucleotide variant Inborn genetic diseases [RCV003212600] Chr2:202892690 [GRCh38]
Chr2:203757413 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.914A>G (p.Tyr305Cys) single nucleotide variant Inborn genetic diseases [RCV003209811] Chr2:202884272 [GRCh38]
Chr2:203748995 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_018256.4(WDR12):c.842G>A (p.Arg281Lys) single nucleotide variant Inborn genetic diseases [RCV003217177] Chr2:202884435 [GRCh38]
Chr2:203749158 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_018256.4(WDR12):c.388G>A (p.Gly130Arg) single nucleotide variant Inborn genetic diseases [RCV003354188] Chr2:202897366 [GRCh38]
Chr2:203762089 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q33.2(chr2:203662536-203857352)x1 copy number loss not provided [RCV003485249] Chr2:203662536..203857352 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
NM_018256.4(WDR12):c.574G>A (p.Val192Ile) single nucleotide variant Inborn genetic diseases [RCV003378961] Chr2:202896100 [GRCh38]
Chr2:203760823 [GRCh37]
Chr2:2q33.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2997
Count of miRNA genes:1123
Interacting mature miRNAs:1390
Transcripts:ENST00000261015, ENST00000463824, ENST00000464820, ENST00000467777, ENST00000475611, ENST00000477723, ENST00000477727, ENST00000478869
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH65532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371284,842,312 - 84,842,428UniSTSGRCh37
GRCh372203,745,486 - 203,745,608UniSTSGRCh37
Build 362203,453,731 - 203,453,853RGDNCBI36
Celera1284,505,986 - 84,506,102UniSTS
Celera2197,498,172 - 197,498,294RGD
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33.2UniSTS
HuRef1281,899,280 - 81,899,396UniSTS
HuRef2195,592,348 - 195,592,470UniSTS
G63182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377123,171,546 - 123,171,843UniSTSGRCh37
GRCh372203,778,411 - 203,778,700UniSTSGRCh37
Build 362203,486,656 - 203,486,945RGDNCBI36
Celera2197,531,090 - 197,531,387RGD
Celera7117,975,285 - 117,975,582UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7q31.32UniSTS
HuRef7117,534,442 - 117,534,739UniSTS
HuRef2195,625,250 - 195,625,539UniSTS
CRA_TCAGchr7v27122,560,160 - 122,560,457UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 194 35 76 50 631 53 371 78 205 119 298 293 8 30 67 2
Low 2244 2700 1650 574 1105 412 3985 2080 3518 300 1162 1320 167 1 1174 2721 4 2
Below cutoff 256 215 39 11

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000261015   ⟹   ENSP00000261015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,874,261 - 202,911,673 (-)Ensembl
RefSeq Acc Id: ENST00000463824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,883,589 - 202,884,535 (-)Ensembl
RefSeq Acc Id: ENST00000464820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,883,473 - 202,884,240 (-)Ensembl
RefSeq Acc Id: ENST00000467777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,880,601 - 202,882,855 (-)Ensembl
RefSeq Acc Id: ENST00000475611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,884,238 - 202,894,765 (-)Ensembl
RefSeq Acc Id: ENST00000477723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,899,557 - 203,014,798 (-)Ensembl
RefSeq Acc Id: ENST00000477727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,884,141 - 202,892,674 (-)Ensembl
RefSeq Acc Id: ENST00000478869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,895,998 - 202,901,120 (-)Ensembl
RefSeq Acc Id: ENST00000688520   ⟹   ENSP00000509107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,874,261 - 202,912,226 (-)Ensembl
RefSeq Acc Id: NM_001371664   ⟹   NP_001358593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,874,261 - 202,911,673 (-)NCBI
T2T-CHM13v2.02203,355,718 - 203,393,126 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018256   ⟹   NP_060726
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,874,261 - 202,911,673 (-)NCBI
GRCh372203,745,323 - 203,776,949 (-)RGD
Build 362203,453,575 - 203,484,639 (-)NCBI Archive
Celera2197,498,009 - 197,529,627 (-)RGD
HuRef2195,592,185 - 195,623,787 (-)RGD
CHM1_12203,751,915 - 203,783,565 (-)NCBI
T2T-CHM13v2.02203,355,718 - 203,393,126 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_060726   ⟸   NM_018256
- Peptide Label: isoform 1
- UniProtKB: Q9NV80 (UniProtKB/Swiss-Prot),   Q96HU0 (UniProtKB/Swiss-Prot),   B3KPA9 (UniProtKB/Swiss-Prot),   Q9NYI8 (UniProtKB/Swiss-Prot),   Q9GZL7 (UniProtKB/Swiss-Prot),   Q53T99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358593   ⟸   NM_001371664
- Peptide Label: isoform 2
- UniProtKB: B4DRY7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000261015   ⟸   ENST00000261015
RefSeq Acc Id: ENSP00000509107   ⟸   ENST00000688520
Protein Domains
NLE

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9GZL7-F1-model_v2 AlphaFold Q9GZL7 1-423 view protein structure

Promoters
RGD ID:6862572
Promoter ID:EPDNEW_H4451
Type:initiation region
Name:WDR12_2
Description:WD repeat domain 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4452  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,911,894 - 202,911,954EPDNEW
RGD ID:6862574
Promoter ID:EPDNEW_H4452
Type:initiation region
Name:WDR12_1
Description:WD repeat domain 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4451  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,912,162 - 202,912,222EPDNEW
RGD ID:6798439
Promoter ID:HG_KWN:36787
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:OTTHUMT00000256329,   OTTHUMT00000335770,   UC010FTT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362203,484,506 - 203,485,142 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14098 AgrOrtholog
COSMIC WDR12 COSMIC
Ensembl Genes ENSG00000138442 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261015 ENTREZGENE
  ENST00000261015.5 UniProtKB/Swiss-Prot
  ENST00000688520.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138442 GTEx
HGNC ID HGNC:14098 ENTREZGENE
Human Proteome Map WDR12 Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NLE 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_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WDR12/Ytm1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55759 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55759 ENTREZGENE
OMIM 616620 OMIM
PANTHER RIBOSOME BIOGENESIS PROTEIN WDR12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 REPEAT PROTEIN 12, 37 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NLE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37841 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KPA9 ENTREZGENE
  B4DRY7 ENTREZGENE, UniProtKB/TrEMBL
  Q53T99 ENTREZGENE, UniProtKB/TrEMBL
  Q96HU0 ENTREZGENE
  Q9GZL7 ENTREZGENE
  Q9NV80 ENTREZGENE
  Q9NYI8 ENTREZGENE
  WDR12_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KPA9 UniProtKB/Swiss-Prot
  Q96HU0 UniProtKB/Swiss-Prot
  Q9NV80 UniProtKB/Swiss-Prot
  Q9NYI8 UniProtKB/Swiss-Prot