InnateDB Protein
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IDBP-81202.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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WNT10A
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Protein Name
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wingless-type MMTV integration site family, member 10A
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000258411
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InnateDB Gene
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IDBG-81200 (WNT10A)
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Protein Structure
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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.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005817
Wnt
IPR013302
Wnt-10 protein
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PFAM |
PF00110
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PRINTS |
PR01349
PR01893
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PIRSF |
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SMART |
SM00097
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TIGRFAMs |
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Modification |
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SwissProt |
Q9GZT5
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PhosphoSite |
PhosphoSite-
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TrEMBL |
Q9BTP0
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UniProt Splice Variant |
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Entrez Gene |
80326
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UniGene |
Hs.121540
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RefSeq |
NP_079492
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HUGO |
HGNC:13829
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OMIM |
606268
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CCDS |
CCDS2426
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HPRD |
16207
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IMGT |
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EMBL |
AB059569
AC073128
AF315943
AK024363
AK315081
AY009400
BC003544
BC034352
BC052234
CH471063
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GenPept |
AAG38660
AAG45153
AAH03544
AAH34352
AAH52234
AAY24175
BAB14898
BAB55602
BAG37548
EAW70659
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