Human Gene WNT7A (ENST00000285018.5) from GENCODE V44
  Description: Homo sapiens Wnt family member 7A (WNT7A), mRNA. (from RefSeq NM_004625)
RefSeq Summary (NM_004625): This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000285018.5
Gencode Gene: ENSG00000154764.6
Transcript (Including UTRs)
   Position: hg38 chr3:13,816,258-13,880,071 Size: 63,814 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr3:13,818,944-13,879,816 Size: 60,873 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:13,816,258-13,880,071)mRNA (may differ from genome)Protein (349 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WNT7A_HUMAN
DESCRIPTION: RecName: Full=Protein Wnt-7a; Flags: Precursor;
FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. Signaling by Wnt-7a allows sexually dimorphic development of the mullerian ducts (By similarity).
SUBUNIT: Interacts with PORCN (By similarity).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
TISSUE SPECIFICITY: Expression is restricted to placenta, kidney, testis, uterus, fetal lung, and fetal and adult brain.
PTM: Palmitoylation at Ser-206 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-73. Palmitoylation is necessary for proper trafficking to cell surface (By similarity).
DISEASE: Defects in WNT7A are the cause of limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820]. A syndrome of severe deficiency of the extremities due to hypo- or aplasia of one or more long bones of one or more limbs. Pelvic manifestations include hip dislocation, hypoplastic iliac bone and aplastic pubic bones. Thoracic deformity, unusual facies and genitourinary anomalies can be present.
DISEASE: Defects in WNT7A are a cause of Fuhrmann syndrome (FUHRS) [MIM:228930]; also known as fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactyly. Fuhrmann syndrome is a distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.
SIMILARITY: Belongs to the Wnt family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNT7A";

-  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: WNT7A
Diseases sorted by gene-association score: fuhrmann syndrome* (1696), ulna and fibula, absence of, with severe limb deficiency* (1650), phocomelia (28), humeroradial synostosis (12), persistent mullerian duct syndrome (8), mayer-rokitansky-kuster-hauser syndrome (7), skeletal muscle regeneration (7), endosalpingiosis (6), myofibroma (6), endometrial cancer (5)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.27 RPKM in Brain - Cortex
Total median expression: 20.38 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 -136.50255-0.535 Picture PostScript Text
3' UTR -935.602686-0.348 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
IPR013300 - Wnt7
IPR018161 - Wnt_CS

Pfam Domains:
PF00110 - wnt family

ModBase Predicted Comparative 3D Structure on O00755
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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005109 frizzled binding
GO:0005125 cytokine activity
GO:0005515 protein binding
GO:0048018 receptor agonist activity

Biological Process:
GO:0000578 embryonic axis specification
GO:0001502 cartilage condensation
GO:0001525 angiogenesis
GO:0002062 chondrocyte differentiation
GO:0007269 neurotransmitter secretion
GO:0007275 multicellular organism development
GO:0007409 axonogenesis
GO:0007548 sex differentiation
GO:0008284 positive regulation of cell proliferation
GO:0009953 dorsal/ventral pattern formation
GO:0010469 regulation of receptor activity
GO:0010595 positive regulation of endothelial cell migration
GO:0010628 positive regulation of gene expression
GO:0014719 skeletal muscle satellite cell activation
GO:0014834 skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration
GO:0016055 Wnt signaling pathway
GO:0021707 cerebellar granule cell differentiation
GO:0021846 cell proliferation in forebrain
GO:0022009 central nervous system vasculogenesis
GO:0030010 establishment of cell polarity
GO:0030326 embryonic limb morphogenesis
GO:0031133 regulation of axon diameter
GO:0032270 positive regulation of cellular protein metabolic process
GO:0032355 response to estradiol
GO:0035019 somatic stem cell population maintenance
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0035567 non-canonical Wnt signaling pathway
GO:0035659 Wnt signaling pathway involved in wound healing, spreading of epidermal cells
GO:0036465 synaptic vesicle recycling
GO:0042060 wound healing
GO:0042127 regulation of cell proliferation
GO:0042733 embryonic digit morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0043627 response to estrogen
GO:0045165 cell fate commitment
GO:0045167 asymmetric protein localization involved in cell fate determination
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046330 positive regulation of JNK cascade
GO:0048103 somatic stem cell division
GO:0048864 stem cell development
GO:0050768 negative regulation of neurogenesis
GO:0050770 regulation of axonogenesis
GO:0050808 synapse organization
GO:0051216 cartilage development
GO:0051965 positive regulation of synapse assembly
GO:0060054 positive regulation of epithelial cell proliferation involved in wound healing
GO:0060065 uterus development
GO:0060066 oviduct development
GO:0060070 canonical Wnt signaling pathway
GO:0060173 limb development
GO:0060997 dendritic spine morphogenesis
GO:0061038 uterus morphogenesis
GO:0070307 lens fiber cell development
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:0099054 presynapse assembly
GO:0099068 postsynapse assembly
GO:1904861 excitatory synapse assembly
GO:1904891 positive regulation of excitatory synapse assembly
GO:1905386 positive regulation of protein localization to presynapse
GO:2000463 positive regulation of excitatory postsynaptic potential

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
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
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  U53476 - Human proto-oncogene Wnt7a mRNA, complete cds.
D83175 - Homo sapiens WNT7a mRNA, complete cds.
BC008811 - Homo sapiens wingless-type MMTV integration site family, member 7A, mRNA (cDNA clone MGC:10346 IMAGE:3949579), complete cds.
JD055533 - Sequence 36557 from Patent EP1572962.
JD354714 - Sequence 335738 from Patent EP1572962.
JD114478 - Sequence 95502 from Patent EP1572962.
JD192253 - Sequence 173277 from Patent EP1572962.
JD538227 - Sequence 519251 from Patent EP1572962.
KJ892386 - Synthetic construct Homo sapiens clone ccsbBroadEn_01780 WNT7A gene, encodes complete protein.
KR710045 - Synthetic construct Homo sapiens clone CCSBHm_00009199 WNT7A (WNT7A) mRNA, encodes complete protein.
KR710046 - Synthetic construct Homo sapiens clone CCSBHm_00009200 WNT7A (WNT7A) mRNA, encodes complete protein.
KR710047 - Synthetic construct Homo sapiens clone CCSBHm_00009201 WNT7A (WNT7A) mRNA, encodes complete protein.
DQ896267 - Synthetic construct Homo sapiens clone IMAGE:100010727; FLH191754.01L; RZPDo839G0867D wingless-type MMTV integration site family, member 7A (WNT7A) gene, encodes complete protein.
AB590380 - Synthetic construct DNA, clone: pFN21AE1440, Homo sapiens WNT7A gene for wingless-type MMTV integration site family, member 7A, without stop codon, in Flexi system.
DQ893023 - Synthetic construct clone IMAGE:100005653; FLH191758.01X; RZPDo839G0877D wingless-type MMTV integration site family, member 7A (WNT7A) gene, encodes complete protein.
JD215247 - Sequence 196271 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway
hsa04340 - Hedgehog signaling pathway
hsa04916 - Melanogenesis
hsa05200 - Pathways in cancer
hsa05217 - Basal cell carcinoma

Reactome (by CSHL, EBI, and GO)

Protein O00755 (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-3247843 secretion of WNT ligands
R-HSA-3247840 WLS binds WNT ligands in the Golgi
R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-3238698 WNT ligand biogenesis and trafficking
R-HSA-500792 GPCR ligand binding
R-HSA-195721 Signaling by WNT
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000285018.1, ENST00000285018.2, ENST00000285018.3, ENST00000285018.4, NM_004625, O00755, Q96H90, Q9Y560, uc003bye.1, uc003bye.2, uc003bye.3, WNT7A_HUMAN
UCSC ID: ENST00000285018.5
RefSeq Accession: NM_004625
Protein: O00755 (aka WNT7A_HUMAN or WN7A_HUMAN)
CCDS: CCDS2616.1

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