WNT4 (Wnt family member 4) - Rat Genome Database

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Gene: WNT4 (Wnt family member 4) Homo sapiens
Analyze
Symbol: WNT4
Name: Wnt family member 4
RGD ID: 733867
HGNC Page HGNC:12783
Description: Enables receptor ligand activity. Involved in several processes, including Wnt signaling pathway; regulation of gene expression; and regulation of steroid biosynthetic process. Located in cytoplasm and extracellular space. Implicated in Mullerian aplasia and hyperandrogenism. Biomarker of endometrial carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: SERKAL; wingless-type MMTV integration site family member 4; wingless-type MMTV integration site family, member 4; WNT-4
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
GRCh38122,117,313 - 22,143,097 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl122,117,313 - 22,143,969 (-)EnsemblGRCh38hg38GRCh38
GRCh37122,443,806 - 22,469,590 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,316,385 - 22,342,106 (-)NCBINCBI36Build 36hg18NCBI36
Build 34122,191,504 - 22,214,916NCBI
Celera120,766,732 - 20,792,452 (-)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef120,687,456 - 20,707,677 (-)NCBIHuRef
CHM1_1122,556,295 - 22,576,527 (-)NCBICHM1_1
T2T-CHM13v2.0121,941,071 - 21,966,860 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(R)-adrenaline  (ISO)
(S)-nicotine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,3-dinitrobenzene  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-nitrotoluene  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (EXP,ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
allethrin  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
beryllium sulfate  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
bromochloroacetic acid  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium sulfate  (EXP)
caffeine  (ISO)
calciol  (ISO)
cantharidin  (ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (ISO)
dexamethasone  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
Ethylenethiourea  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP,ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
hydroquinone  (EXP)
indole-3-methanol  (ISO)
indometacin  (ISO)
L-methionine  (ISO)
lead nitrate  (ISO)
lead(0)  (EXP)
lead(II) chloride  (EXP)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
N-Vinyl-2-pyrrolidone  (ISO)
nickel atom  (EXP,ISO)
nickel sulfate  (ISO)
nicotine  (ISO)
O-methyleugenol  (EXP)
oxybenzone  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
picene  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
simvastatin  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sotorasib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
trametinib  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (IEP)
apoptotic signaling pathway  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (IEA,ISO)
branching morphogenesis of an epithelial tube  (IEA,ISO)
canonical Wnt signaling pathway  (IBA,IDA,IEA,ISO)
cell differentiation  (IEA,ISO)
cell fate commitment  (IBA,IEA,ISO)
cellular response to estradiol stimulus  (ISO)
cellular response to hydrostatic pressure  (ISO)
cellular response to starvation  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (IEP)
embryonic epithelial tube formation  (IEA,ISO)
epithelial to mesenchymal transition  (IEP)
female gonad development  (IEA,ISO)
female sex determination  (IMP)
fibroblast growth factor receptor signaling pathway  (IEA,ISO)
gamete generation  (IEA,ISO)
hormone metabolic process  (IEA,ISO)
immature T cell proliferation in thymus  (IEA,ISO)
kidney development  (IEP)
kidney morphogenesis  (IEA,ISO)
liver development  (IEP)
male gonad development  (IEA,IEP,IMP,ISO)
mammary gland epithelium development  (IEP)
meiotic nuclear division  (IEA,ISO)
mesenchymal to epithelial transition  (IEA,ISO)
mesonephric tubule development  (IEA,ISO)
mesonephros development  (IEA)
metanephric mesenchymal cell differentiation  (NAS)
metanephric nephron development  (IEA,ISO)
metanephric nephron morphogenesis  (IEA,ISO)
metanephric tubule formation  (IEA,ISO)
metanephros development  (IEA,ISO)
negative regulation of androgen biosynthetic process  (IDA)
negative regulation of apoptotic signaling pathway  (IEA,ISO)
negative regulation of cell differentiation  (IEA,ISO)
negative regulation of cell migration  (IEA)
negative regulation of DNA-templated transcription  (IEA,IMP,ISS)
negative regulation of fibroblast growth factor receptor signaling pathway  (IEA,ISO)
negative regulation of gene expression  (IDA,IEA,ISO)
negative regulation of male gonad development  (IMP)
negative regulation of steroid biosynthetic process  (IDA)
negative regulation of testicular blood vessel morphogenesis  (IMP)
negative regulation of testosterone biosynthetic process  (IEA,IMP)
negative regulation of wound healing  (IEA)
nephron development  (IEA,ISO)
neuron differentiation  (IBA,IEA)
non-canonical Wnt signaling pathway  (IDA,IEA,ISO)
oocyte development  (IEA,ISO)
paramesonephric duct development  (IEA,IMP,ISO)
pericyte cell differentiation  (IEA,ISO)
positive regulation of aldosterone biosynthetic process  (IDA)
positive regulation of bone mineralization  (IDA)
positive regulation of collagen biosynthetic process  (IDA)
positive regulation of cortisol biosynthetic process  (IDA)
positive regulation of dermatome development  (IDA)
positive regulation of DNA-templated transcription  (IDA,IEA,ISO,ISS)
positive regulation of focal adhesion assembly  (IEA)
positive regulation of MAPK cascade  (IDA)
positive regulation of meiotic nuclear division  (IEA,ISO)
positive regulation of osteoblast differentiation  (IDA)
positive regulation of stress fiber assembly  (IEA)
regulation of cell-cell adhesion  (IEA,ISO)
renal vesicle formation  (IEA,ISO)
renal vesicle induction  (IEA,ISO)
response to benzoic acid  (ISO)
response to estradiol  (ISO)
response to retinoic acid  (ISO)
Sertoli cell differentiation  (IEA,ISO)
sex differentiation  (IEA,ISO)
smooth muscle cell differentiation  (IEA,ISO)
somatotropin secreting cell differentiation  (IEA,ISO)
T cell differentiation in thymus  (IEA,ISO)
tertiary branching involved in mammary gland duct morphogenesis  (IEA,ISO)
thyroid-stimulating hormone-secreting cell differentiation  (IEA,ISO)
tube morphogenesis  (IEA,ISO)
Wnt signaling pathway  (IEA)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal external genitalia  (IAGP)
Abnormal penis morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal vagina morphology  (IAGP)
Abnormality of the adrenal glands  (IAGP)
Abnormality of the ovary  (IAGP)
Acne  (IAGP)
Adrenal gland agenesis  (IAGP)
Antenatal onset  (IAGP)
Aplasia of the fallopian tube  (IAGP)
Aplasia of the uterus  (IAGP)
Aplasia of the vagina  (IAGP)
Aplasia/hypoplasia of the uterus  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bicornuate uterus  (IAGP)
Bilateral lung agenesis  (IAGP)
Brachydactyly  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital pulmonary airway malformation  (IAGP)
Cubitus valgus  (IAGP)
Early young adult onset  (IAGP)
Ectopic kidney  (IAGP)
Facial hirsutism  (IAGP)
Frontal balding  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
High anterior hairline  (IAGP)
Hirsutism  (IAGP)
Hypoplasia of the bladder  (IAGP)
Hypoplasia of the uterus  (IAGP)
Hypospadias  (IAGP)
Increased circulating androstenedione concentration  (IAGP)
Increased circulating dehydroepiandrosterone-sulfate concentration  (IAGP)
Increased serum testosterone level  (IAGP)
Intrauterine growth retardation  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Malrotation of small bowel  (IAGP)
Obesity  (IAGP)
Oligohydramnios  (IAGP)
Orofacial cleft  (IAGP)
Ovotestis  (IAGP)
Primary amenorrhea  (IAGP)
Protruding ear  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Pulmonic stenosis  (IAGP)
Renal agenesis  (IAGP)
Renal dysplasia  (IAGP)
Sex reversal  (IAGP)
Shield chest  (IAGP)
Short neck  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Synophrys  (IAGP)
Thick eyebrow  (IAGP)
Unilateral renal agenesis  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral segmentation defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman. Biason-Lauber A, etal., N Engl J Med. 2004 Aug 19;351(8):792-8.
2. Expression and hormone regulation of Wnt2, 3, 4, 5a, 7a, 7b and 10b in normal human endometrium and endometrial carcinoma. Bui TD, etal., Br J Cancer. 1997;75(8):1131-6.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue. Huguet EL, etal., Cancer Res. 1994 May 15;54(10):2615-21.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. The Wnt Homepage Roel Nusse - Howard Hughes Medical Institute and the Department of Developmental Biology at Stanford University, California, USA
11. Expression and function of the developmental gene Wnt-4 during experimental acute renal failure in rats. Terada Y, etal., J Am Soc Nephrol 2003 May;14(5):1223-33.
12. Alternative wnt signaling is initiated by distinct receptors. van Amerongen R, etal., Sci Signal. 2008 Sep 2;1(35):re9.
Additional References at PubMed
PMID:2279700   PMID:8167409   PMID:9853965   PMID:9989404   PMID:10654605   PMID:10866835   PMID:11283799   PMID:11287180   PMID:12142017   PMID:12477932   PMID:12768078   PMID:12841867  
PMID:12844346   PMID:12949260   PMID:12975309   PMID:15040835   PMID:15149334   PMID:15265686   PMID:15312687   PMID:15389636   PMID:15489334   PMID:15589122   PMID:15717329   PMID:16343436  
PMID:16368682   PMID:16442268   PMID:16710414   PMID:16959810   PMID:16981135   PMID:17720811   PMID:17848411   PMID:17976063   PMID:18001722   PMID:18179883   PMID:18182450   PMID:18281035  
PMID:18553255   PMID:19034702   PMID:19171330   PMID:19421142   PMID:19453261   PMID:19849868   PMID:19863181   PMID:19962424   PMID:20060343   PMID:20161747   PMID:20301714   PMID:20502698  
PMID:20601957   PMID:20634891   PMID:20709709   PMID:21280163   PMID:21377155   PMID:21624127   PMID:21732829   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22041457   PMID:22503279  
PMID:22504420   PMID:22951804   PMID:23044875   PMID:23104006   PMID:23142796   PMID:23142810   PMID:23251661   PMID:23463699   PMID:23472165   PMID:23520208   PMID:24130753   PMID:24200887  
PMID:24274766   PMID:24356390   PMID:24945404   PMID:25154675   PMID:25270402   PMID:25337242   PMID:25682310   PMID:25901368   PMID:26139156   PMID:26186194   PMID:26363035   PMID:26721931  
PMID:26848991   PMID:27107012   PMID:27323961   PMID:27600466   PMID:27604691   PMID:27650553   PMID:27716927   PMID:28078366   PMID:28272483   PMID:28514442   PMID:28600106   PMID:28611215  
PMID:28756229   PMID:28877031   PMID:28901453   PMID:30002385   PMID:30457351   PMID:30862715   PMID:30945288   PMID:31067548   PMID:31216173   PMID:31235257   PMID:31776823   PMID:32046450  
PMID:32892998   PMID:33222684   PMID:33961781   PMID:34099025   PMID:34268601   PMID:34519627   PMID:34898058   PMID:35256949   PMID:35300692   PMID:36738897   PMID:37839333   PMID:38112643  
PMID:38354602  


Genomics

Comparative Map Data
WNT4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38122,117,313 - 22,143,097 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl122,117,313 - 22,143,969 (-)EnsemblGRCh38hg38GRCh38
GRCh37122,443,806 - 22,469,590 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,316,385 - 22,342,106 (-)NCBINCBI36Build 36hg18NCBI36
Build 34122,191,504 - 22,214,916NCBI
Celera120,766,732 - 20,792,452 (-)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef120,687,456 - 20,707,677 (-)NCBIHuRef
CHM1_1122,556,295 - 22,576,527 (-)NCBICHM1_1
T2T-CHM13v2.0121,941,071 - 21,966,860 (-)NCBIT2T-CHM13v2.0
Wnt4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394137,004,946 - 137,026,812 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4137,004,800 - 137,027,037 (+)EnsemblGRCm39 Ensembl
GRCm384137,277,635 - 137,299,501 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4137,277,489 - 137,299,726 (+)EnsemblGRCm38mm10GRCm38
MGSCv374136,833,550 - 136,852,694 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364136,549,711 - 136,568,855 (+)NCBIMGSCv36mm8
Celera4135,495,983 - 135,515,320 (+)NCBICelera
Cytogenetic Map4D3NCBI
cM Map469.8NCBI
Wnt4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85154,797,245 - 154,818,565 (+)NCBIGRCr8
mRatBN7.25149,513,573 - 149,535,415 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5149,514,018 - 149,532,859 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5152,211,413 - 152,230,231 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05153,985,716 - 154,004,530 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05153,967,711 - 153,986,525 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05155,649,238 - 155,668,065 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5155,649,217 - 155,672,579 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05159,405,855 - 159,424,682 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45156,064,371 - 156,083,198 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15156,074,409 - 156,093,237 (+)NCBI
Celera5147,911,190 - 147,930,012 (+)NCBICelera
Cytogenetic Map5q36NCBI
Wnt4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554522,319,446 - 2,344,989 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554522,319,446 - 2,344,740 (-)NCBIChiLan1.0ChiLan1.0
WNT4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21204,797,117 - 204,824,726 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11203,909,033 - 203,935,541 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0121,310,228 - 21,335,985 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1122,252,344 - 22,264,858 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl122,255,056 - 22,268,801 (-)Ensemblpanpan1.1panPan2
WNT4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1277,112,045 - 77,129,702 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl277,101,300 - 77,127,111 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha273,605,854 - 73,632,899 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0277,660,017 - 77,687,063 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl277,659,490 - 77,687,070 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1274,480,520 - 74,507,565 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,489,331 - 75,516,389 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0276,493,182 - 76,520,234 (+)NCBIUU_Cfam_GSD_1.0
Wnt4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505841,798,680 - 41,823,413 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364747,623,463 - 7,635,664 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364747,623,462 - 7,635,416 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WNT4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1680,110,238 - 80,138,165 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2674,137,827 - 74,165,540 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WNT4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120110,517,391 - 110,543,802 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20110,517,564 - 110,541,203 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660335,754,333 - 5,781,060 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wnt4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247646,921,811 - 6,933,392 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247646,913,027 - 6,934,650 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WNT4
89 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_030761.5(WNT4):c.647A>G (p.Glu216Gly) single nucleotide variant Mullerian aplasia and hyperandrogenism [RCV000006688] Chr1:22120459 [GRCh38]
Chr1:22446952 [GRCh37]
Chr1:1p36.12
pathogenic
NM_030761.5(WNT4):c.341C>T (p.Ala114Val) single nucleotide variant SERKAL syndrome [RCV000006689] Chr1:22121549 [GRCh38]
Chr1:22448042 [GRCh37]
Chr1:1p36.12
pathogenic
NM_030761.5(WNT4):c.247C>T (p.Arg83Trp) single nucleotide variant Mullerian aplasia and hyperandrogenism [RCV000006690] Chr1:22129682 [GRCh38]
Chr1:22456175 [GRCh37]
Chr1:1p36.12
pathogenic
NM_030761.5(WNT4):c.35T>C (p.Leu12Pro) single nucleotide variant Mullerian aplasia and hyperandrogenism [RCV000006691] Chr1:22142888 [GRCh38]
Chr1:22469381 [GRCh37]
Chr1:1p36.12
pathogenic
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 copy number loss See cases [RCV000053789] Chr1:18347821..22512894 [GRCh38]
Chr1:18674315..22839387 [GRCh37]
Chr1:18546902..22711974 [NCBI36]
Chr1:1p36.13-36.12
pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1 copy number loss See cases [RCV000138071] Chr1:21399130..22696747 [GRCh38]
Chr1:21725623..23023240 [GRCh37]
Chr1:21598210..22895827 [NCBI36]
Chr1:1p36.12
likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:17555508-24706269 complex variant complex Breast ductal adenocarcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_030761.5(WNT4):c.346T>C (p.Ser116Pro) single nucleotide variant not provided [RCV000723128] Chr1:22121544 [GRCh38]
Chr1:22448037 [GRCh37]
Chr1:1p36.12
uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:20067124-22537862)x1 copy number loss See cases [RCV000447314] Chr1:20067124..22537862 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) single nucleotide variant Mayer-Rokitansky-Kuster-Hauser syndrome [RCV000714700]|Mullerian aplasia and hyperandrogenism [RCV000714699]|SERKAL syndrome [RCV000714698] Chr1:22120162 [GRCh38]
Chr1:22446655 [GRCh37]
Chr1:1p36.12
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_030761.5(WNT4):c.314-148G>A single nucleotide variant not provided [RCV001612622] Chr1:22121724 [GRCh38]
Chr1:22448217 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.588+181C>T single nucleotide variant not provided [RCV001708225] Chr1:22121030 [GRCh38]
Chr1:22447523 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.471C>T (p.Asp157=) single nucleotide variant not provided [RCV000877848] Chr1:22121328 [GRCh38]
Chr1:22447821 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.897G>T (p.Thr299=) single nucleotide variant Mullerian aplasia and hyperandrogenism [RCV002502896]|not provided [RCV000945949] Chr1:22120209 [GRCh38]
Chr1:22446702 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.483C>T (p.Tyr161=) single nucleotide variant Mullerian aplasia and hyperandrogenism [RCV002507545]|not provided [RCV000878442] Chr1:22121316 [GRCh38]
Chr1:22447809 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.600A>G (p.Thr200=) single nucleotide variant not provided [RCV000894081] Chr1:22120506 [GRCh38]
Chr1:22446999 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.96G>A (p.Ser32=) single nucleotide variant Mullerian aplasia and hyperandrogenism [RCV002489285]|not provided [RCV000945996] Chr1:22129833 [GRCh38]
Chr1:22456326 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.909C>T (p.Ile303=) single nucleotide variant Mullerian aplasia and hyperandrogenism [RCV002502936]|not provided [RCV000952010] Chr1:22120197 [GRCh38]
Chr1:22446690 [GRCh37]
Chr1:1p36.12
benign|likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_030761.5(WNT4):c.859G>A (p.Gly287Ser) single nucleotide variant Inborn genetic diseases [RCV003290455] Chr1:22120247 [GRCh38]
Chr1:22446740 [GRCh37]
Chr1:1p36.12
uncertain significance
NC_000001.10:g.(?_19199339)_(22987879_?)dup duplication Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Hyperprolinemia type 2 [RCV003107740] Chr1:19199339..22987879 [GRCh37]
Chr1:1p36.13-36.12
uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 copy number loss 1p36.1 deletion syndrome [RCV001614471] Chr1:16785250..23491592 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
NM_030761.5(WNT4):c.276C>T (p.Leu92=) single nucleotide variant not provided [RCV000951758] Chr1:22129653 [GRCh38]
Chr1:22456146 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.276C>G (p.Leu92=) single nucleotide variant not provided [RCV000891333] Chr1:22129653 [GRCh38]
Chr1:22456146 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.589-306T>C single nucleotide variant not provided [RCV001672316] Chr1:22120823 [GRCh38]
Chr1:22447316 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.589-138C>G single nucleotide variant not provided [RCV001678875] Chr1:22120655 [GRCh38]
Chr1:22447148 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.588+57_588+58dup duplication not provided [RCV001667051] Chr1:22121152..22121153 [GRCh38]
Chr1:22447645..22447646 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.739C>T (p.Arg247Cys) single nucleotide variant Mullerian aplasia and hyperandrogenism [RCV001254634]|Mullerian aplasia and hyperandrogenism [RCV002491861] Chr1:22120367 [GRCh38]
Chr1:22446860 [GRCh37]
Chr1:1p36.12
uncertain significance
GRCh37/hg19 1p36.12(chr1:22396372-22763532)x3 copy number gain not provided [RCV001259564] Chr1:22396372..22763532 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.854G>A (p.Arg285His) single nucleotide variant not provided [RCV003560863]|not specified [RCV001820446] Chr1:22120252 [GRCh38]
Chr1:22446745 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.561C>A (p.Asn187Lys) single nucleotide variant not provided [RCV001968451] Chr1:22121238 [GRCh38]
Chr1:22447731 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.278A>T (p.Asp93Val) single nucleotide variant not provided [RCV002003287] Chr1:22129651 [GRCh38]
Chr1:22456144 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.910G>A (p.Asp304Asn) single nucleotide variant not provided [RCV001888109] Chr1:22120196 [GRCh38]
Chr1:22446689 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.890A>C (p.Asn297Thr) single nucleotide variant not provided [RCV001897662] Chr1:22120216 [GRCh38]
Chr1:22446709 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.289G>A (p.Val97Ile) single nucleotide variant not provided [RCV001923425] Chr1:22129640 [GRCh38]
Chr1:22456133 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.831C>T (p.Pro277=) single nucleotide variant not provided [RCV002127307] Chr1:22120275 [GRCh38]
Chr1:22446768 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.443A>G (p.Gln148Arg) single nucleotide variant not provided [RCV002169743] Chr1:22121447 [GRCh38]
Chr1:22447940 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.1005C>T (p.Phe335=) single nucleotide variant not provided [RCV002172129] Chr1:22120101 [GRCh38]
Chr1:22446594 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.78-12C>A single nucleotide variant not provided [RCV002093579] Chr1:22129863 [GRCh38]
Chr1:22456356 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.320G>A (p.Arg107Gln) single nucleotide variant not provided [RCV003118790] Chr1:22121570 [GRCh38]
Chr1:22448063 [GRCh37]
Chr1:1p36.12
uncertain significance
NC_000001.10:g.(?_19199339)_(24690861_?)dup duplication Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155] Chr1:19199339..24690861 [GRCh37]
Chr1:1p36.13-36.11
uncertain significance
NM_030761.5(WNT4):c.881G>A (p.Arg294His) single nucleotide variant Mullerian aplasia and hyperandrogenism [RCV003148340] Chr1:22120225 [GRCh38]
Chr1:22446718 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.25T>G (p.Ser9Ala) single nucleotide variant Inborn genetic diseases [RCV003284817] Chr1:22142898 [GRCh38]
Chr1:22469391 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.295G>A (p.Gly99Ser) single nucleotide variant Inborn genetic diseases [RCV002840512]|not provided [RCV003698992] Chr1:22129634 [GRCh38]
Chr1:22456127 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.1033G>A (p.Val345Met) single nucleotide variant not provided [RCV002909640] Chr1:22120073 [GRCh38]
Chr1:22446566 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.238T>C (p.Tyr80His) single nucleotide variant not provided [RCV002735727] Chr1:22129691 [GRCh38]
Chr1:22456184 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.939C>T (p.Arg313=) single nucleotide variant not provided [RCV002927015] Chr1:22120167 [GRCh38]
Chr1:22446660 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.766G>A (p.Val256Met) single nucleotide variant Inborn genetic diseases [RCV002919670] Chr1:22120340 [GRCh38]
Chr1:22446833 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.314-9C>T single nucleotide variant not provided [RCV002919146] Chr1:22121585 [GRCh38]
Chr1:22448078 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.799G>A (p.Asp267Asn) single nucleotide variant not provided [RCV002851515] Chr1:22120307 [GRCh38]
Chr1:22446800 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.198G>A (p.Ser66=) single nucleotide variant not provided [RCV002957764] Chr1:22129731 [GRCh38]
Chr1:22456224 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.951G>A (p.Thr317=) single nucleotide variant not provided [RCV002894728] Chr1:22120155 [GRCh38]
Chr1:22446648 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.396G>A (p.Glu132=) single nucleotide variant not provided [RCV003084794] Chr1:22121494 [GRCh38]
Chr1:22447987 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.912C>T (p.Asp304=) single nucleotide variant not provided [RCV002937501] Chr1:22120194 [GRCh38]
Chr1:22446687 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.118G>C (p.Glu40Gln) single nucleotide variant Inborn genetic diseases [RCV002674863] Chr1:22129811 [GRCh38]
Chr1:22456304 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.277G>A (p.Asp93Asn) single nucleotide variant not provided [RCV003062893] Chr1:22129652 [GRCh38]
Chr1:22456145 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.339C>T (p.Tyr113=) single nucleotide variant not provided [RCV003009001] Chr1:22121551 [GRCh38]
Chr1:22448044 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.801T>A (p.Asp267Glu) single nucleotide variant WNT4-related disorder [RCV003906286]|not provided [RCV002895725] Chr1:22120305 [GRCh38]
Chr1:22446798 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.313+18G>A single nucleotide variant not provided [RCV002900471] Chr1:22129598 [GRCh38]
Chr1:22456091 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.588+15C>A single nucleotide variant not provided [RCV002671625] Chr1:22121196 [GRCh38]
Chr1:22447689 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.1016G>A (p.Arg339Gln) single nucleotide variant Inborn genetic diseases [RCV002935622] Chr1:22120090 [GRCh38]
Chr1:22446583 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.954G>A (p.Ala318=) single nucleotide variant not provided [RCV003072429] Chr1:22120152 [GRCh38]
Chr1:22446645 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.1028G>A (p.Arg343Gln) single nucleotide variant Inborn genetic diseases [RCV003191884] Chr1:22120078 [GRCh38]
Chr1:22446571 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.938G>A (p.Arg313His) single nucleotide variant not provided [RCV003139364] Chr1:22120168 [GRCh38]
Chr1:22446661 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.1006G>A (p.Val336Ile) single nucleotide variant Inborn genetic diseases [RCV003194079] Chr1:22120100 [GRCh38]
Chr1:22446593 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.539C>T (p.Ser180Leu) single nucleotide variant Inborn genetic diseases [RCV003309210] Chr1:22121260 [GRCh38]
Chr1:22447753 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.164A>C (p.Gln55Pro) single nucleotide variant not provided [RCV003326746] Chr1:22129765 [GRCh38]
Chr1:22456258 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.627C>T (p.His209=) single nucleotide variant not provided [RCV003875564] Chr1:22120479 [GRCh38]
Chr1:22446972 [GRCh37]
Chr1:1p36.12
likely benign
GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4 copy number gain not provided [RCV003485339] Chr1:17291707..23016395 [GRCh37]
Chr1:1p36.13-36.12
likely pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
NM_030761.5(WNT4):c.667G>A (p.Ala223Thr) single nucleotide variant WNT4-related disorder [RCV003399648] Chr1:22120439 [GRCh38]
Chr1:22446932 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.203G>A (p.Arg68His) single nucleotide variant WNT4-related disorder [RCV003404197] Chr1:22129726 [GRCh38]
Chr1:22456219 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.78-18G>A single nucleotide variant not provided [RCV003696381] Chr1:22129869 [GRCh38]
Chr1:22456362 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.128G>A (p.Cys43Tyr) single nucleotide variant not provided [RCV003662623] Chr1:22129801 [GRCh38]
Chr1:22456294 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.540G>A (p.Ser180=) single nucleotide variant WNT4-related disorder [RCV003956467]|not provided [RCV003695427] Chr1:22121259 [GRCh38]
Chr1:22447752 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_030761.5(WNT4):c.657G>A (p.Thr219=) single nucleotide variant not provided [RCV003573910] Chr1:22120449 [GRCh38]
Chr1:22446942 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.817T>C (p.Leu273=) single nucleotide variant not provided [RCV003712884] Chr1:22120289 [GRCh38]
Chr1:22446782 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.1047G>A (p.Thr349=) single nucleotide variant not provided [RCV003687637] Chr1:22120059 [GRCh38]
Chr1:22446552 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.288C>T (p.Pro96=) single nucleotide variant not provided [RCV003579983] Chr1:22129641 [GRCh38]
Chr1:22456134 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.957G>C (p.Gln319His) single nucleotide variant not provided [RCV003559823] Chr1:22120149 [GRCh38]
Chr1:22446642 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.940G>A (p.Gly314Ser) single nucleotide variant not provided [RCV003558994] Chr1:22120166 [GRCh38]
Chr1:22446659 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.1011G>A (p.Lys337=) single nucleotide variant not provided [RCV003817380] Chr1:22120095 [GRCh38]
Chr1:22446588 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.77+19G>A single nucleotide variant not provided [RCV003667812] Chr1:22142827 [GRCh38]
Chr1:22469320 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.344T>C (p.Ile115Thr) single nucleotide variant not provided [RCV003697400] Chr1:22121546 [GRCh38]
Chr1:22448039 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.588+3A>G single nucleotide variant not provided [RCV003700563] Chr1:22121208 [GRCh38]
Chr1:22447701 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.176G>A (p.Arg59Gln) single nucleotide variant not provided [RCV003555400] Chr1:22129753 [GRCh38]
Chr1:22456246 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.383G>A (p.Cys128Tyr) single nucleotide variant not provided [RCV003680888] Chr1:22121507 [GRCh38]
Chr1:22448000 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.313+10G>T single nucleotide variant WNT4-related disorder [RCV003909017]|not provided [RCV003553534] Chr1:22129606 [GRCh38]
Chr1:22456099 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.556A>G (p.Met186Val) single nucleotide variant not provided [RCV003711066] Chr1:22121243 [GRCh38]
Chr1:22447736 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.117G>A (p.Glu39=) single nucleotide variant not provided [RCV003842819] Chr1:22129812 [GRCh38]
Chr1:22456305 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.861C>T (p.Gly287=) single nucleotide variant not provided [RCV003732549] Chr1:22120245 [GRCh38]
Chr1:22446738 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.77+16del deletion not provided [RCV003557328] Chr1:22142830 [GRCh38]
Chr1:22469323 [GRCh37]
Chr1:1p36.12
benign
NM_030761.5(WNT4):c.321G>A (p.Arg107=) single nucleotide variant not provided [RCV003562374] Chr1:22121569 [GRCh38]
Chr1:22448062 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.875G>C (p.Arg292Thr) single nucleotide variant not provided [RCV003706537] Chr1:22120231 [GRCh38]
Chr1:22446724 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.1032C>T (p.Leu344=) single nucleotide variant WNT4-related disorder [RCV003954700] Chr1:22120074 [GRCh38]
Chr1:22446567 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.126G>C (p.Thr42=) single nucleotide variant WNT4-related disorder [RCV003982711] Chr1:22129803 [GRCh38]
Chr1:22456296 [GRCh37]
Chr1:1p36.12
likely benign
NM_030761.5(WNT4):c.-9_-8dup duplication WNT4-related disorder [RCV003896380] Chr1:22142929..22142930 [GRCh38]
Chr1:22469422..22469423 [GRCh37]
Chr1:1p36.12
likely benign
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 copy number loss not provided [RCV004577440] Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
NM_030761.5(WNT4):c.248G>A (p.Arg83Gln) single nucleotide variant Inborn genetic diseases [RCV004483138] Chr1:22129681 [GRCh38]
Chr1:22456174 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.857G>A (p.Ser286Asn) single nucleotide variant Inborn genetic diseases [RCV004483139] Chr1:22120249 [GRCh38]
Chr1:22446742 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_030761.5(WNT4):c.953C>T (p.Ala318Val) single nucleotide variant Inborn genetic diseases [RCV004483140] Chr1:22120153 [GRCh38]
Chr1:22446646 [GRCh37]
Chr1:1p36.12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1954
Count of miRNA genes:882
Interacting mature miRNAs:1058
Transcripts:ENST00000290167, ENST00000415567, ENST00000441048, ENST00000542383
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-74353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,443,828 - 22,444,031UniSTSGRCh37
Build 36122,316,415 - 22,316,618RGDNCBI36
Celera120,766,762 - 20,766,965RGD
Cytogenetic Map1p36.23-p35.1UniSTS
HuRef120,687,486 - 20,687,689UniSTS
TNG Radiation Hybrid Map19701.0UniSTS
GeneMap99-GB4 RH Map177.56UniSTS
SHGC-74348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,456,220 - 22,456,345UniSTSGRCh37
Build 36122,328,807 - 22,328,932RGDNCBI36
Celera120,779,154 - 20,779,279RGD
Cytogenetic Map1p36.23-p35.1UniSTS
HuRef120,699,874 - 20,699,999UniSTS
TNG Radiation Hybrid Map19707.0UniSTS
GeneMap99-GB4 RH Map177.56UniSTS
Whitehead-RH Map172.3UniSTS
D1S1386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,452,332 - 22,452,522UniSTSGRCh37
Build 36122,324,919 - 22,325,109RGDNCBI36
Celera120,775,266 - 20,775,456RGD
Cytogenetic Map1p36.23-p35.1UniSTS
HuRef120,695,986 - 20,696,176UniSTS
SHGC-106323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,444,859 - 22,445,144UniSTSGRCh37
Build 36122,317,446 - 22,317,731RGDNCBI36
Celera120,767,793 - 20,768,078RGD
Cytogenetic Map1p36.23-p35.1UniSTS
HuRef120,688,517 - 20,688,802UniSTS
TNG Radiation Hybrid Map19701.0UniSTS
WNT4_1928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,446,252 - 22,446,899UniSTSGRCh37
Build 36122,318,839 - 22,319,486RGDNCBI36
Celera120,769,186 - 20,769,833RGD
HuRef120,689,906 - 20,690,553UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 41 1 139 34 12 16 1110 1 70 20 386 66 19 4 569
Low 1272 249 1301 358 669 218 1333 687 1949 183 962 1273 150 525 852 3
Below cutoff 1105 2701 264 220 1121 220 1896 1475 1674 200 91 253 1 675 1361 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA984007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB061675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF316543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF335591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY009398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ970114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000290167   ⟹   ENSP00000290167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,117,313 - 22,143,097 (-)Ensembl
RefSeq Acc Id: ENST00000415567   ⟹   ENSP00000403334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,127,038 - 22,129,851 (-)Ensembl
RefSeq Acc Id: ENST00000441048   ⟹   ENSP00000388925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,127,474 - 22,143,969 (-)Ensembl
RefSeq Acc Id: NM_030761   ⟹   NP_110388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,117,313 - 22,143,097 (-)NCBI
GRCh37122,443,798 - 22,470,474 (-)NCBI
Build 36122,316,385 - 22,342,106 (-)NCBI Archive
HuRef120,687,456 - 20,707,677 (-)ENTREZGENE
CHM1_1122,556,295 - 22,576,527 (-)NCBI
T2T-CHM13v2.0121,941,071 - 21,966,860 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541597   ⟹   XP_011539899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,117,313 - 22,140,895 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541599   ⟹   XP_011539901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,127,033 - 22,140,800 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054337105   ⟹   XP_054193080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,941,071 - 21,964,658 (-)NCBI
RefSeq Acc Id: XM_054337106   ⟹   XP_054193081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,950,801 - 21,964,563 (-)NCBI
RefSeq Acc Id: NP_110388   ⟸   NM_030761
- Peptide Label: precursor
- UniProtKB: Q9H1J8 (UniProtKB/Swiss-Prot),   Q9BXF5 (UniProtKB/Swiss-Prot),   Q96T81 (UniProtKB/Swiss-Prot),   Q5TZQ0 (UniProtKB/Swiss-Prot),   B4DJF9 (UniProtKB/Swiss-Prot),   Q9UJM2 (UniProtKB/Swiss-Prot),   P56705 (UniProtKB/Swiss-Prot),   Q8IUM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539899   ⟸   XM_011541597
- Peptide Label: isoform X1
- UniProtKB: Q8IUM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539901   ⟸   XM_011541599
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000403334   ⟸   ENST00000415567
RefSeq Acc Id: ENSP00000388925   ⟸   ENST00000441048
RefSeq Acc Id: ENSP00000290167   ⟸   ENST00000290167
RefSeq Acc Id: XP_054193080   ⟸   XM_054337105
- Peptide Label: isoform X1
- UniProtKB: Q8IUM6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193081   ⟸   XM_054337106
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P56705-F1-model_v2 AlphaFold P56705 1-351 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12783 AgrOrtholog
COSMIC WNT4 COSMIC
Ensembl Genes ENSG00000162552 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000290167 ENTREZGENE
  ENST00000290167.11 UniProtKB/Swiss-Prot
  ENST00000415567.1 UniProtKB/TrEMBL
  ENST00000441048.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.2460.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162552 GTEx
HGNC ID HGNC:12783 ENTREZGENE
Human Proteome Map WNT4 Human Proteome Map
InterPro Wnt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54361 UniProtKB/Swiss-Prot
NCBI Gene 54361 ENTREZGENE
OMIM 603490 OMIM
PANTHER PROTEIN WNT-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam wnt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37384 PharmGKB
PRINTS WNT4PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WNTPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WNT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WNT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AJZ6_HUMAN UniProtKB/TrEMBL
  B4DJF9 ENTREZGENE
  H0Y663_HUMAN UniProtKB/TrEMBL
  P56705 ENTREZGENE
  Q5TZQ0 ENTREZGENE
  Q8IUM6 ENTREZGENE, UniProtKB/TrEMBL
  Q96T81 ENTREZGENE
  Q9BXF5 ENTREZGENE
  Q9H1J8 ENTREZGENE
  Q9UJM2 ENTREZGENE
  WNT4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DJF9 UniProtKB/Swiss-Prot
  Q5TZQ0 UniProtKB/Swiss-Prot
  Q96T81 UniProtKB/Swiss-Prot
  Q9BXF5 UniProtKB/Swiss-Prot
  Q9H1J8 UniProtKB/Swiss-Prot
  Q9UJM2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 WNT4  Wnt family member 4  WNT4  wingless-type MMTV integration site family member 4  Symbol and/or name change 5135510 APPROVED
2015-11-24 WNT4  wingless-type MMTV integration site family member 4  WNT4  wingless-type MMTV integration site family, member 4  Symbol and/or name change 5135510 APPROVED