Human Gene WNT4 (ENST00000290167.11_7) from GENCODE V47lift37
  Description: Wnt family member 4 (from RefSeq NM_030761.5)
Gencode Transcript: ENST00000290167.11_7
Gencode Gene: ENSG00000162552.15_14
Transcript (Including UTRs)
   Position: hg19 chr1:22,443,806-22,469,590 Size: 25,785 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr1:22,446,543-22,469,415 Size: 22,873 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:22,443,806-22,469,590)mRNA (may differ from genome)Protein (351 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WNT4_HUMAN
DESCRIPTION: RecName: Full=Protein Wnt-4; Flags: Precursor;
FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Overexpression may be associated with abnormal proliferation in human breast tissue.
SUBUNIT: Interacts with PORCN (By similarity).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
PTM: Palmitoylation at Ser-212 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-78. Palmitoylation is necessary for proper trafficking to cell surface (By similarity).
DISEASE: Defects in WNT4 are a cause of Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]; also called Mayer- Rokitansky-Kuster-Hauser syndrome (MRKH syndrome or MRKH anomaly). RKH syndrome is characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls.
DISEASE: Defects in WNT4 are the cause of female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]; also known as SERKAL syndrome.
DISEASE: Defects in WNT4 are the cause of Muellerian aplasia (MULLAPL) [MIM:158330].
SIMILARITY: Belongs to the Wnt family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNT4";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: WNT4
Diseases sorted by gene-association score: serkal syndrome* (1728), mullerian aplasia and hyperandrogenism* (1680), 46,xy disorder of sex development and 46,xy complete gonadal dysgenesis* (100), wnt4-related 46,xy dsd and 46,xy cgd* (100), hyperandrogenism (43), mullerian aplasia (29), mayer-rokitansky-kuster-hauser syndrome (14), amenorrhea (13), hermaphroditism (13), murcs association (9), renal hypodysplasia (6), 46 xy gonadal dysgenesis (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.45 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 76.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -107.00175-0.611 Picture PostScript Text
3' UTR -968.902737-0.354 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005817 - Wnt
IPR009142 - Wnt4
IPR018161 - Wnt_CS

Pfam Domains:
PF00110 - wnt family

ModBase Predicted Comparative 3D Structure on P56705
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003714 transcription corepressor activity
GO:0005102 receptor binding
GO:0005109 frizzled binding
GO:0048018 receptor agonist activity

Biological Process:
GO:0001656 metanephros development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001822 kidney development
GO:0001823 mesonephros development
GO:0001837 epithelial to mesenchymal transition
GO:0001838 embryonic epithelial tube formation
GO:0001889 liver development
GO:0006702 androgen biosynthetic process
GO:0007275 multicellular organism development
GO:0007276 gamete generation
GO:0007548 sex differentiation
GO:0008584 male gonad development
GO:0008585 female gonad development
GO:0009267 cellular response to starvation
GO:0010469 regulation of receptor activity
GO:0010629 negative regulation of gene expression
GO:0010894 negative regulation of steroid biosynthetic process
GO:0016055 Wnt signaling pathway
GO:0022407 regulation of cell-cell adhesion
GO:0030154 cell differentiation
GO:0030182 neuron differentiation
GO:0030237 female sex determination
GO:0030325 adrenal gland development
GO:0030336 negative regulation of cell migration
GO:0030501 positive regulation of bone mineralization
GO:0032349 positive regulation of aldosterone biosynthetic process
GO:0032967 positive regulation of collagen biosynthetic process
GO:0033077 T cell differentiation in thymus
GO:0033080 immature T cell proliferation in thymus
GO:0035239 tube morphogenesis
GO:0035567 non-canonical Wnt signaling pathway
GO:0038030 non-canonical Wnt signaling pathway via MAPK cascade
GO:0040037 negative regulation of fibroblast growth factor receptor signaling pathway
GO:0042445 hormone metabolic process
GO:0043547 positive regulation of GTPase activity
GO:0045165 cell fate commitment
GO:0045596 negative regulation of cell differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045836 positive regulation of meiotic nuclear division
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048599 oocyte development
GO:0048754 branching morphogenesis of an epithelial tube
GO:0048856 anatomical structure development
GO:0051145 smooth muscle cell differentiation
GO:0051496 positive regulation of stress fiber assembly
GO:0051894 positive regulation of focal adhesion assembly
GO:0060070 canonical Wnt signaling pathway
GO:0060126 somatotropin secreting cell differentiation
GO:0060129 thyroid-stimulating hormone-secreting cell differentiation
GO:0060231 mesenchymal to epithelial transition
GO:0060748 tertiary branching involved in mammary gland duct morphogenesis
GO:0060993 kidney morphogenesis
GO:0061045 negative regulation of wound healing
GO:0061180 mammary gland epithelium development
GO:0061184 positive regulation of dermatome development
GO:0061205 paramesonephric duct development
GO:0061369 negative regulation of testicular blood vessel morphogenesis
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0072006 nephron development
GO:0072033 renal vesicle formation
GO:0072034 renal vesicle induction
GO:0072162 metanephric mesenchymal cell differentiation
GO:0072164 mesonephric tubule development
GO:0072174 metanephric tubule formation
GO:0072210 metanephric nephron development
GO:0072273 metanephric nephron morphogenesis
GO:0072659 protein localization to plasma membrane
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:2000019 negative regulation of male gonad development
GO:2000066 positive regulation of cortisol biosynthetic process
GO:2000225 negative regulation of testosterone biosynthetic process
GO:2001234 negative regulation of apoptotic signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0030666 endocytic vesicle membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC007386 - Homo sapiens cDNA clone IMAGE:3690160, partial cds.
JD052409 - Sequence 33433 from Patent EP1572962.
JD190123 - Sequence 171147 from Patent EP1572962.
JD270454 - Sequence 251478 from Patent EP1572962.
JD444754 - Sequence 425778 from Patent EP1572962.
JD099124 - Sequence 80148 from Patent EP1572962.
JD449892 - Sequence 430916 from Patent EP1572962.
JD088753 - Sequence 69777 from Patent EP1572962.
JD545615 - Sequence 526639 from Patent EP1572962.
JD345820 - Sequence 326844 from Patent EP1572962.
JD318687 - Sequence 299711 from Patent EP1572962.
JD040284 - Sequence 21308 from Patent EP1572962.
JD434743 - Sequence 415767 from Patent EP1572962.
JD390487 - Sequence 371511 from Patent EP1572962.
JD168623 - Sequence 149647 from Patent EP1572962.
JD439413 - Sequence 420437 from Patent EP1572962.
JD059033 - Sequence 40057 from Patent EP1572962.
JD393265 - Sequence 374289 from Patent EP1572962.
JD547574 - Sequence 528598 from Patent EP1572962.
JD183116 - Sequence 164140 from Patent EP1572962.
JD087180 - Sequence 68204 from Patent EP1572962.
JD362686 - Sequence 343710 from Patent EP1572962.
JD308981 - Sequence 290005 from Patent EP1572962.
JD043909 - Sequence 24933 from Patent EP1572962.
JD106999 - Sequence 88023 from Patent EP1572962.
JD554565 - Sequence 535589 from Patent EP1572962.
JD251953 - Sequence 232977 from Patent EP1572962.
JD354202 - Sequence 335226 from Patent EP1572962.
AY358947 - Homo sapiens clone DNA48328 Wnt4 (UNQ426) mRNA, complete cds.
AF316543 - Homo sapiens signaling protein WNT-4 mRNA, complete cds.
BC057781 - Homo sapiens wingless-type MMTV integration site family, member 4, mRNA (cDNA clone MGC:71587 IMAGE:30330746), complete cds.
JD458166 - Sequence 439190 from Patent EP1572962.
JD458884 - Sequence 439908 from Patent EP1572962.
AK296058 - Homo sapiens cDNA FLJ57881 complete cds.
AY009398 - Homo sapiens WNT4 precursor (WNT4) mRNA, complete cds.
AB061675 - Homo sapiens mRNA for WNT4, complete cds.
JF432754 - Synthetic construct Homo sapiens clone IMAGE:100073998 wingless-type MMTV integration site family, member 4 (WNT4) gene, encodes complete protein.
KJ898975 - Synthetic construct Homo sapiens clone ccsbBroadEn_08369 WNT4 gene, encodes complete protein.
KR710963 - Synthetic construct Homo sapiens clone CCSBHm_00018397 WNT4 (WNT4) mRNA, encodes complete protein.
KR710964 - Synthetic construct Homo sapiens clone CCSBHm_00018398 WNT4 (WNT4) mRNA, encodes complete protein.
KR710965 - Synthetic construct Homo sapiens clone CCSBHm_00018399 WNT4 (WNT4) mRNA, encodes complete protein.
BT020125 - Homo sapiens wingless-type MMTV integration site family, member 4 mRNA, complete cds.
AB590593 - Synthetic construct DNA, clone: pFN21AE1832, Homo sapiens WNT4 gene for wingless-type MMTV integration site family, member 4, without stop codon, in Flexi system.
JD129605 - Sequence 110629 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P56705 (Reactome details) participates in the following event(s):

R-HSA-201708 Frizzled receptors bind Wnts
R-HSA-3238694 PORCN palmitoleoylates N-glycosyl WNTs
R-HSA-3247840 WLS binds WNT ligands in the Golgi
R-HSA-3247843 secretion of WNT ligands
R-HSA-3769370 WIF1 binds WNTs
R-HSA-3858491 WNTs bind the FZD receptor to initiate PCP pathway
R-HSA-3858482 DVL is recruited to the receptor
R-HSA-3858480 WNT-dependent phosphorylation of DVL
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-3238698 WNT ligand biogenesis and trafficking
R-HSA-3772470 Negative regulation of TCF-dependent signaling by WNT ligand antagonists
R-HSA-4086400 PCP/CE pathway
R-HSA-500792 GPCR ligand binding
R-HSA-195721 Signaling by WNT
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B4DJF9, ENST00000290167.1, ENST00000290167.10, ENST00000290167.2, ENST00000290167.3, ENST00000290167.4, ENST00000290167.5, ENST00000290167.6, ENST00000290167.7, ENST00000290167.8, ENST00000290167.9, NM_030761, P56705, Q5TZQ0, Q96T81, Q9BXF5, Q9H1J8, Q9UJM2, uc317ktw.1, uc317ktw.2, UNQ426/PRO864, WNT4_HUMAN
UCSC ID: ENST00000290167.11_7
RefSeq Accession: NM_030761.5
Protein: P56705 (aka WNT4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.