WNT7A (Wnt family member 7A)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
7476 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Wnt family member 7A |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
WNT7A |
SynonymsGene synonyms aliases
|
SANTOS, Wnt-7a |
ChromosomeChromosome number
|
3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3p25.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 fat |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs75651130 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, missense variant |
rs104893832 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs104893835 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs149363953 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs149962459 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs387907231 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs397514643 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs397514666 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs879255548 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000578 |
Process |
Embryonic axis specification |
IMP |
16826533 |
GO:0001502 |
Process |
Cartilage condensation |
IDA |
17202865 |
GO:0001525 |
Process |
Angiogenesis |
IEA |
|
GO:0002062 |
Process |
Chondrocyte differentiation |
IDA |
17202865 |
GO:0005102 |
Function |
Signaling receptor binding |
IPI |
12857724 |
GO:0005109 |
Function |
Frizzled binding |
IBA |
21873635 |
GO:0005125 |
Function |
Cytokine activity |
IBA |
21873635 |
GO:0005125 |
Function |
Cytokine activity |
IDA |
18986540 |
GO:0005515 |
Function |
Protein binding |
IPI |
22986341, 26342861, 30026314, 32814053 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005615 |
Component |
Extracellular space |
IBA |
21873635 |
GO:0005788 |
Component |
Endoplasmic reticulum lumen |
TAS |
|
GO:0005796 |
Component |
Golgi lumen |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0007269 |
Process |
Neurotransmitter secretion |
IEA |
|
GO:0007409 |
Process |
Axonogenesis |
TAS |
24449494 |
GO:0007548 |
Process |
Sex differentiation |
TAS |
9790192 |
GO:0009953 |
Process |
Dorsal/ventral pattern formation |
IEA |
|
GO:0009986 |
Component |
Cell surface |
IEA |
|
GO:0010595 |
Process |
Positive regulation of endothelial cell migration |
IEA |
|
GO:0014719 |
Process |
Skeletal muscle satellite cell activation |
IEA |
|
GO:0014834 |
Process |
Skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration |
IEA |
|
GO:0016055 |
Process |
Wnt signaling pathway |
TAS |
|
GO:0021707 |
Process |
Cerebellar granule cell differentiation |
IEA |
|
GO:0021846 |
Process |
Cell proliferation in forebrain |
IDA |
12843296 |
GO:0022009 |
Process |
Central nervous system vasculogenesis |
IEA |
|
GO:0030010 |
Process |
Establishment of cell polarity |
IEA |
|
GO:0030182 |
Process |
Neuron differentiation |
IBA |
21873635 |
GO:0030666 |
Component |
Endocytic vesicle membrane |
TAS |
|
GO:0031012 |
Component |
Extracellular matrix |
IEA |
|
GO:0031133 |
Process |
Regulation of axon diameter |
IEA |
|
GO:0032270 |
Process |
Positive regulation of cellular protein metabolic process |
IDA |
16805831 |
GO:0032355 |
Process |
Response to estradiol |
IEA |
|
GO:0035019 |
Process |
Somatic stem cell population maintenance |
IEA |
|
GO:0035115 |
Process |
Embryonic forelimb morphogenesis |
IMP |
16826533 |
GO:0035116 |
Process |
Embryonic hindlimb morphogenesis |
IMP |
16826533 |
GO:0035313 |
Process |
Wound healing, spreading of epidermal cells |
IDA |
15802269 |
GO:0036465 |
Process |
Synaptic vesicle recycling |
TAS |
22988876 |
GO:0042733 |
Process |
Embryonic digit morphogenesis |
IMP |
16826533 |
GO:0043066 |
Process |
Negative regulation of apoptotic process |
IEA |
|
GO:0043627 |
Process |
Response to estrogen |
IEA |
|
GO:0045165 |
Process |
Cell fate commitment |
IBA |
21873635 |
GO:0045167 |
Process |
Asymmetric protein localization involved in cell fate determination |
IEA |
|
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IDA |
15802269 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IDA |
12857724 |
GO:0046330 |
Process |
Positive regulation of JNK cascade |
IBA |
21873635 |
GO:0048018 |
Function |
Receptor ligand activity |
IC |
15802269 |
GO:0048018 |
Function |
Receptor ligand activity |
IDA |
18986540, 28733458 |
GO:0048103 |
Process |
Somatic stem cell division |
IEA |
|
GO:0048864 |
Process |
Stem cell development |
IDA |
12843296 |
GO:0050768 |
Process |
Negative regulation of neurogenesis |
IDA |
12843296 |
GO:0051965 |
Process |
Positive regulation of synapse assembly |
IDA |
18986540 |
GO:0060054 |
Process |
Positive regulation of epithelial cell proliferation involved in wound healing |
IDA |
15802269 |
GO:0060066 |
Process |
Oviduct development |
IEA |
|
GO:0060070 |
Process |
Canonical Wnt signaling pathway |
IBA |
21873635 |
GO:0060070 |
Process |
Canonical Wnt signaling pathway |
IDA |
12857724, 15802269, 16805831, 18986540, 28733458 |
GO:0060071 |
Process |
Wnt signaling pathway, planar cell polarity pathway |
IDA |
15802269 |
GO:0060997 |
Process |
Dendritic spine morphogenesis |
IDA |
21670302 |
GO:0061038 |
Process |
Uterus morphogenesis |
IEA |
|
GO:0062009 |
Process |
Secondary palate development |
IMP |
18413325 |
GO:0070062 |
Component |
Extracellular exosome |
TAS |
|
GO:0070307 |
Process |
Lens fiber cell development |
ISS |
16258938 |
GO:0071560 |
Process |
Cellular response to transforming growth factor beta stimulus |
IEP |
15040835 |
GO:0098685 |
Component |
Schaffer collateral - CA1 synapse |
IEA |
|
GO:0098793 |
Component |
Presynapse |
IEA |
|
GO:0098978 |
Component |
Glutamatergic synapse |
EXP |
20530549 |
GO:0098978 |
Component |
Glutamatergic synapse |
IDA |
20530549 |
GO:0098978 |
Component |
Glutamatergic synapse |
IMP |
20530549 |
GO:0099054 |
Process |
Presynapse assembly |
TAS |
24449494 |
GO:0099068 |
Process |
Postsynapse assembly |
TAS |
24449494 |
GO:0099175 |
Process |
Regulation of postsynapse organization |
IEA |
|
GO:1904861 |
Process |
Excitatory synapse assembly |
TAS |
24449494 |
GO:1904891 |
Process |
Positive regulation of excitatory synapse assembly |
IDA |
21670302 |
GO:1905386 |
Process |
Positive regulation of protein localization to presynapse |
TAS |
24449494 |
GO:1905606 |
Process |
Regulation of presynapse assembly |
EXP |
20530549 |
GO:1905606 |
Process |
Regulation of presynapse assembly |
IDA |
20530549 |
GO:1905606 |
Process |
Regulation of presynapse assembly |
IMP |
20530549 |
GO:2000300 |
Process |
Regulation of synaptic vesicle exocytosis |
IEA |
|
GO:2000463 |
Process |
Positive regulation of excitatory postsynaptic potential |
IDA |
21670302 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
Protein
|
UniProt ID |
O00755 |
Protein name |
Protein Wnt-7a |
Protein function |
Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patt |
PDB |
4UZQ
,
8TZO
,
8TZP
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00110 |
wnt |
40 → 349 |
wnt family |
Family |
|
Sequence |
|
Sequence length |
349 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis, Familial |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 |
11796754 |
Anonychia |
ANONYCHIA |
rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150 |
|
Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
|
Ectrodactyly |
Ectrodactyly |
rs1850314485 |
|
Fuhrmann syndrome |
Fuhrmann syndrome |
rs104893832, rs387907231 |
23266637, 16826533, 23922166, 20949531 |
Hydrops fetalis |
Hydrops Fetalis |
rs28935477, rs1131691986 |
|
Lateral sclerosis |
AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic |
rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 |
11796754 |
Ovarian cancer |
Malignant neoplasm of ovary |
rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393 |
25174399 |
Phocomelia |
Phocomelia, Phocomelia, Schinzel type |
rs104893835, rs387907231, rs397514643, rs397514666, rs879255548 |
|
Polydactyly |
Polydactyly |
rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Al awadi syndrome |
Al Awadi syndrome |
|
17431918, 16826533, 20949531, 21271649, 23266637, 23922166, 27638328 |
Elbow ankylosis |
Ankylosis of the elbow joint |
|
|
Clinodactyly |
Clinodactyly of fingers, Clinodactyly |
|
|
Congenital clubfoot |
Congenital clubfoot |
|
|
Developmental dysplasia of the hip |
Congenital Dysplasia Of The Hip |
|
|
Congenital epicanthus |
Congenital Epicanthus |
|
|
Congenital hypoplasia of penis |
Congenital hypoplasia of penis |
|
|
Congenital hypoplasia of radius |
Congenital hypoplasia of radius |
|
|
Congenital meningocele |
Congenital meningocele |
|
|
Congenital pectus carinatum |
Congenital pectus carinatum |
|
|
Dwarfism |
Dwarfism |
|
|
Elbow flexion contracture |
Flexion contracture - elbow |
|
|
Female urogenital diseases |
Female Urogenital Diseases |
|
16002989 |
Genitourinary cancer |
Genitourinary Cancer |
|
15751030 |
Genitourinary neoplasms |
Genitourinary Neoplasms |
|
15751030 |
High palate |
Byzanthine arch palate |
|
|
Hypoplasia of nipple |
Hypoplasia of nipple |
|
|
Hypospadias |
Hypospadias |
|
|
Imperforate anus |
Anus, Imperforate |
|
|
Micrognathism |
Micrognathism |
|
|
Micromelia |
Micromelia |
|
|
Nail diseases |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
|
|
Nail dysplasia |
Nail dysplasia |
|
|
Ovarian neoplasm |
ovarian neoplasm |
|
25174399 |
Ramer ladda syndrome |
Ramer Ladda syndrome |
|
|
Syndactyly of the toes |
Syndactyly of the toes |
|
|
Talipes |
Talipes |
|
|
Postaxial hand polydactyly |
Ulnar polydactyly of fingers |
|
|
|
|
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