InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: WNT10A

Summary

InnateDB Protein

IDBP-81202.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

WNT10A

Protein Name

wingless-type MMTV integration site family, member 10A

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000258411

InnateDB Gene

IDBG-81200 (WNT10A)

Protein Structure

UniProt Annotation

Function

Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters.

Subcellular Localization

Secreted, extracellular space, extracellular matrix.

Disease Associations

Note=Defects in WNT10A may be a cause of hypohidrotic/anhidrotic ectodermal dysplasia, a disorder characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. Most patients carrying WNT10A mutations present with sweating anomalies. However, comparison with cases harboring mutations in the ectodysplasin pathway identifies some phenotypic differences. Dermatological features (anomalies of hair and sweat glands) are less severe in patients carrying WNT10A mutations and facial dysmorphism can be absent. The dental phenotype consists in microdontia, whereas teeth agenesis is more frequent in patients carrying mutations in the ectodysplasin pathway.Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]: A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. {ECO:0000269PubMed:17847007, ECO:0000269PubMed:19559398}. Note=The disease is caused by mutations affecting the gene represented in this entry.Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750]: A rare ectodermal dysplasia, characterized chiefly by cysts of the eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumors in some affected subjects indicates that Schopf-Schulz- Passarge syndrome is a genodermatosis with skin appendage neoplasms. {ECO:0000269PubMed:19559398}. Note=The disease is caused by mutations affecting the gene represented in this entry.Tooth agenesis selective 4 (STHAG4) [MIM:150400]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). In STHAG4, the upper lateral incisors are absent or peg-shaped. {ECO:0000269PubMed:21484994, ECO:0000269PubMed:22581971}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005109	frizzled binding

Biological Process

GO:0001942	hair follicle development
GO:0007275	multicellular organismal development
GO:0010628	positive regulation of gene expression
GO:0014033	neural crest cell differentiation
GO:0016055	Wnt signaling pathway
GO:0030182	neuron differentiation
GO:0031069	hair follicle morphogenesis
GO:0042476	odontogenesis
GO:0042487	regulation of odontogenesis of dentin-containing tooth
GO:0043586	tongue development
GO:0043588	skin development
GO:0045165	cell fate commitment
GO:0048730	epidermis morphogenesis
GO:0048733	sebaceous gland development
GO:0071560	cellular response to transforming growth factor beta stimulus