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Q9GZT5

- WN10A_HUMAN

UniProt

Q9GZT5 - WN10A_HUMAN

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Protein

Protein Wnt-10a

Gene
WNT10A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. frizzled binding Source: RefGenome

GO - Biological processi

  1. cell fate commitment Source: RefGenome
  2. cellular response to transforming growth factor beta stimulus Source: UniProtKB
  3. epidermis morphogenesis Source: BHF-UCL
  4. hair follicle development Source: BHF-UCL
  5. hair follicle morphogenesis Source: BHF-UCL
  6. neural crest cell differentiation Source: Ensembl
  7. neuron differentiation Source: RefGenome
  8. odontogenesis Source: BHF-UCL
  9. positive regulation of gene expression Source: Ensembl
  10. regulation of odontogenesis of dentin-containing tooth Source: Ensembl
  11. sebaceous gland development Source: BHF-UCL
  12. skin development Source: BHF-UCL
  13. tongue development Source: BHF-UCL
  14. Wnt signaling pathway Source: RefGenome
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Wnt signaling pathway

Enzyme and pathway databases

ReactomeiREACT_163710. WNT ligand biogenesis and trafficking.
REACT_18372. Class B/2 (Secretin family receptors).

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Wnt-10a
Gene namesi
Name:WNT10A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:13829. WNT10A.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: Reactome
  2. extracellular space Source: RefGenome
  3. proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti128 – 1281R → Q in OODD and STHAG4. 2 Publications
Corresponds to variant rs121908121 [ dbSNP | Ensembl ].
VAR_062510
Natural varianti228 – 2281F → I in OODD and STHAG4; also found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. 3 Publications
Corresponds to variant rs121908120 [ dbSNP | Ensembl ].
VAR_062511
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti95 – 951E → K in STHAG4. 1 Publication
Corresponds to variant rs318240759 [ dbSNP | Ensembl ].
VAR_069171
Natural varianti128 – 1281R → Q in OODD and STHAG4. 2 Publications
Corresponds to variant rs121908121 [ dbSNP | Ensembl ].
VAR_062510
Natural varianti217 – 2171D → N in STHAG4. 1 Publication
Corresponds to variant rs146902156 [ dbSNP | Ensembl ].
VAR_069173
Natural varianti228 – 2281F → I in OODD and STHAG4; also found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. 3 Publications
Corresponds to variant rs121908120 [ dbSNP | Ensembl ].
VAR_062511

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia, Hypotrichosis, Palmoplantar keratoderma

Organism-specific databases

MIMi150400. phenotype.
224750. phenotype.
257980. phenotype.
Orphaneti248. Autosomal recessive hypohidrotic ectodermal dysplasia.
2227. Hypodontia.
2721. Odonto-onycho-dermal dysplasia.
99798. Oligodontia.
50944. Schopf-Schulz-Passarge syndrome.
PharmGKBiPA37817.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3535 Reviewed predictionAdd
BLAST
Chaini36 – 417382Protein Wnt-10aPRO_0000041460Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi96 ↔ 107 By similarity
Glycosylationi106 – 1061N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi149 ↔ 157 By similarity
Disulfide bondi159 ↔ 214 By similarity
Disulfide bondi262 ↔ 276 By similarity
Disulfide bondi264 ↔ 271 By similarity
Disulfide bondi362 ↔ 377 By similarity
Glycosylationi363 – 3631N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi392 ↔ 407 By similarity
Disulfide bondi394 ↔ 404 By similarity
Disulfide bondi399 ↔ 400 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9GZT5.
PRIDEiQ9GZT5.

PTM databases

PhosphoSiteiQ9GZT5.

Expressioni

Gene expression databases

ArrayExpressiQ9GZT5.
BgeeiQ9GZT5.
CleanExiHS_WNT10A.
GenevestigatoriQ9GZT5.

Organism-specific databases

HPAiHPA013898.

Interactioni

Protein-protein interaction databases

IntActiQ9GZT5. 1 interaction.
STRINGi9606.ENSP00000258411.

Structurei

3D structure databases

ProteinModelPortaliQ9GZT5.
SMRiQ9GZT5. Positions 82-408.

Family & Domainsi

Sequence similaritiesi

Belongs to the Wnt family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG240772.
HOGENOMiHOG000039528.
HOVERGENiHBG001595.
InParanoidiQ9GZT5.
KOiK01357.
OMAiVPRSAPN.
OrthoDBiEOG7C8GJ8.
PhylomeDBiQ9GZT5.
TreeFamiTF105310.

Family and domain databases

InterProiIPR005817. Wnt.
IPR013302. Wnt10.
IPR018161. Wnt_CS.
[Graphical view]
PANTHERiPTHR12027. PTHR12027. 1 hit.
PfamiPF00110. wnt. 1 hit.
[Graphical view]
PRINTSiPR01893. WNT10PROTEIN.
PR01349. WNTPROTEIN.
SMARTiSM00097. WNT1. 1 hit.
[Graphical view]
PROSITEiPS00246. WNT1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9GZT5-1 [UniParc]FASTAAdd to Basket

« Hide

MGSAHPRPWL RLRPQPQPRP ALWVLLFFLL LLAAAMPRSA PNDILDLRLP    50
PEPVLNANTV CLTLPGLSRR QMEVCVRHPD VAASAIQGIQ IAIHECQHQF 100
RDQRWNCSSL ETRNKIPYES PIFSRGFRES AFAYAIAAAG VVHAVSNACA 150
LGKLKACGCD ASRRGDEEAF RRKLHRLQLD ALQRGKGLSH GVPEHPALPT 200
ASPGLQDSWE WGGCSPDMGF GERFSKDFLD SREPHRDIHA RMRLHNNRVG 250
RQAVMENMRR KCKCHGTSGS CQLKTCWQVT PEFRTVGALL RSRFHRATLI 300
RPHNRNGGQL EPGPAGAPSP APGAPGPRRR ASPADLVYFE KSPDFCEREP 350
RLDSAGTVGR LCNKSSAGSD GCGSMCCGRG HNILRQTRSE RCHCRFHWCC 400
FVVCEECRIT EWVSVCK 417
Length:417
Mass (Da):46,444
Last modified:March 1, 2001 - v1
Checksum:i868DF5146A895319
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti95 – 951E → K in STHAG4. 1 Publication
Corresponds to variant rs318240759 [ dbSNP | Ensembl ].
VAR_069171
Natural varianti128 – 1281R → Q in OODD and STHAG4. 2 Publications
Corresponds to variant rs121908121 [ dbSNP | Ensembl ].
VAR_062510
Natural varianti143 – 1431H → Y Probable disease-associated mutation found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. 1 Publication
VAR_064837
Natural varianti145 – 1451V → M Probable disease-associated mutation found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. 2 Publications
VAR_064838
Natural varianti163 – 1631R → W Found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. 1 Publication
VAR_069172
Natural varianti217 – 2171D → N in STHAG4. 1 Publication
Corresponds to variant rs146902156 [ dbSNP | Ensembl ].
VAR_069173
Natural varianti228 – 2281F → I in OODD and STHAG4; also found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. 3 Publications
Corresponds to variant rs121908120 [ dbSNP | Ensembl ].
VAR_062511
Natural varianti277 – 2771W → C Found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. 1 Publication
VAR_069174
Natural varianti302 – 3021P → T.
Corresponds to variant rs1057306 [ dbSNP | Ensembl ].
VAR_013239
Natural varianti306 – 3061N → K Found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. 1 Publication
VAR_069175
Natural varianti360 – 3601R → C Probable disease-associated mutation found in a patient with an unclassified form of ectodermal dysplasia. 1 Publication
VAR_064839

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti52 – 521E → G in BAB55602. 1 Publication
Sequence conflicti52 – 521E → G in BAB14898. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY009400 mRNA. Translation: AAG38660.1.
AF315943 Genomic DNA. Translation: AAG45153.1.
AB059569 mRNA. Translation: BAB55602.1.
AK024363 mRNA. Translation: BAB14898.1.
AK315081 mRNA. Translation: BAG37548.1.
AC073128 Genomic DNA. Translation: AAY24175.1.
CH471063 Genomic DNA. Translation: EAW70659.1.
BC052234 mRNA. Translation: AAH52234.1.
CCDSiCCDS2426.1.
PIRiJC7693.
RefSeqiNP_079492.2. NM_025216.2.
UniGeneiHs.121540.

Genome annotation databases

EnsembliENST00000258411; ENSP00000258411; ENSG00000135925.
GeneIDi80326.
KEGGihsa:80326.
UCSCiuc002vjd.1. human.

Polymorphism databases

DMDMi14424011.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY009400 mRNA. Translation: AAG38660.1 .
AF315943 Genomic DNA. Translation: AAG45153.1 .
AB059569 mRNA. Translation: BAB55602.1 .
AK024363 mRNA. Translation: BAB14898.1 .
AK315081 mRNA. Translation: BAG37548.1 .
AC073128 Genomic DNA. Translation: AAY24175.1 .
CH471063 Genomic DNA. Translation: EAW70659.1 .
BC052234 mRNA. Translation: AAH52234.1 .
CCDSi CCDS2426.1.
PIRi JC7693.
RefSeqi NP_079492.2. NM_025216.2.
UniGenei Hs.121540.

3D structure databases

ProteinModelPortali Q9GZT5.
SMRi Q9GZT5. Positions 82-408.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q9GZT5. 1 interaction.
STRINGi 9606.ENSP00000258411.

PTM databases

PhosphoSitei Q9GZT5.

Polymorphism databases

DMDMi 14424011.

Proteomic databases

PaxDbi Q9GZT5.
PRIDEi Q9GZT5.

Protocols and materials databases

DNASUi 80326.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258411 ; ENSP00000258411 ; ENSG00000135925 .
GeneIDi 80326.
KEGGi hsa:80326.
UCSCi uc002vjd.1. human.

Organism-specific databases

CTDi 80326.
GeneCardsi GC02P219745.
HGNCi HGNC:13829. WNT10A.
HPAi HPA013898.
MIMi 150400. phenotype.
224750. phenotype.
257980. phenotype.
606268. gene.
neXtProti NX_Q9GZT5.
Orphaneti 248. Autosomal recessive hypohidrotic ectodermal dysplasia.
2227. Hypodontia.
2721. Odonto-onycho-dermal dysplasia.
99798. Oligodontia.
50944. Schopf-Schulz-Passarge syndrome.
PharmGKBi PA37817.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG240772.
HOGENOMi HOG000039528.
HOVERGENi HBG001595.
InParanoidi Q9GZT5.
KOi K01357.
OMAi VPRSAPN.
OrthoDBi EOG7C8GJ8.
PhylomeDBi Q9GZT5.
TreeFami TF105310.

Enzyme and pathway databases

Reactomei REACT_163710. WNT ligand biogenesis and trafficking.
REACT_18372. Class B/2 (Secretin family receptors).

Miscellaneous databases

GeneWikii WNT10A.
GenomeRNAii 80326.
NextBioi 70863.
PROi Q9GZT5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9GZT5.
Bgeei Q9GZT5.
CleanExi HS_WNT10A.
Genevestigatori Q9GZT5.

Family and domain databases

InterProi IPR005817. Wnt.
IPR013302. Wnt10.
IPR018161. Wnt_CS.
[Graphical view ]
PANTHERi PTHR12027. PTHR12027. 1 hit.
Pfami PF00110. wnt. 1 hit.
[Graphical view ]
PRINTSi PR01893. WNT10PROTEIN.
PR01349. WNTPROTEIN.
SMARTi SM00097. WNT1. 1 hit.
[Graphical view ]
PROSITEi PS00246. WNT1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of six novel human WNT genes."
    Testa T.T., Mossakowska D.E., Carter P.S., Hu E., Zhu Y., Kelsell D.P., Murdock P.R., Herrity N.C., Lewis C.J., Cross D.A., Culbert A.A., Reith A.D., Barnes M.R.
    Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Genomic sequence of the Wnt6 gene and the Wnt10a gene from human 2q35."
    Rump A., Hayes C., Brown S.D.M., Rosenthal A.
    Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly co-expressed in SW480 cells."
    Kirikoshi H., Sekihara H., Katoh M.
    Biochem. Biophys. Res. Commun. 283:798-805(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta and Thymus.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  8. "Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia."
    Adaimy L., Chouery E., Megarbane H., Mroueh S., Delague V., Nicolas E., Belguith H., de Mazancourt P., Megarbane A.
    Am. J. Hum. Genet. 81:821-828(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN OODD.
  9. "WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes."
    Bohring A., Stamm T., Spaich C., Haase C., Spree K., Hehr U., Hoffmann M., Ledig S., Sel S., Wieacker P., Ropke A.
    Am. J. Hum. Genet. 85:97-105(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS OODD GLN-128 AND ILE-228, INVOLVEMENT IN SSPS.
  10. Cited for: INVOLVEMENT IN HYPOHIDROTIC/ANHIDROTIC ECTODERMAL DYSPLASIA, VARIANTS TYR-143; MET-145; ILE-228 AND CYS-360.
  11. Cited for: VARIANTS STHAG4 ASN-217 AND ILE-228.
  12. Cited for: VARIANTS STHAG4 LYS-95 AND GLN-128, VARIANTS MET-145; TRP-163; CYS-277 AND LYS-306.

Entry informationi

Entry nameiWN10A_HUMAN
AccessioniPrimary (citable) accession number: Q9GZT5
Secondary accession number(s): Q53S44, Q96TA7, Q9H7S8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: March 1, 2001
Last modified: September 3, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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