WNT3 (Wnt family member 3) - Rat Genome Database

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Gene: WNT3 (Wnt family member 3) Homo sapiens
Analyze
Symbol: WNT3
Name: Wnt family member 3
RGD ID: 30308771
HGNC Page HGNC:12782
Description: Enables frizzled binding activity and receptor ligand activity. Involved in several processes, including canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation; midbrain dopaminergic neuron differentiation; and positive regulation of osteoblast differentiation. Predicted to be located in several cellular components, including Golgi lumen; endocytic vesicle membrane; and extracellular exosome. Predicted to be part of Wnt signalosome. Predicted to be active in extracellular space. Implicated in tetraamelia syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: INT4; proto-oncogene Int-4 homolog; proto-oncogene Wnt-3; TETAMS; wingless-type MMTV integration site family, member 3; WNT-3 proto-oncogene protein
RGD Orthologs
Mouse
Rat
Dog
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381746,762,506 - 46,818,692 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1746,762,506 - 46,833,154 (-)EnsemblGRCh38hg38GRCh38
GRCh371744,839,872 - 44,896,058 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17q21.31-q21.32NCBI
HuRef1740,218,240 - 40,274,537 (-)NCBIHuRef
CHM1_11744,903,996 - 44,960,278 (-)NCBICHM1_1
T2T-CHM13v2.01747,623,975 - 47,680,171 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:1846319   PMID:8167409   PMID:8168088   PMID:8244403   PMID:10431240   PMID:10557084   PMID:11076863   PMID:11604997   PMID:11788904   PMID:12477932   PMID:14872406   PMID:15293277  
PMID:15489334   PMID:15588944   PMID:16890161   PMID:18044981   PMID:18309246   PMID:18313787   PMID:18413325   PMID:18563180   PMID:18606139   PMID:18787224   PMID:19365403   PMID:19421142  
PMID:19724895   PMID:19851296   PMID:19863181   PMID:20039315   PMID:20190752   PMID:20198315   PMID:20301453   PMID:20672350   PMID:20709709   PMID:20890934   PMID:21314951   PMID:21789800  
PMID:21812969   PMID:21873635   PMID:22070884   PMID:22112025   PMID:22288914   PMID:22451204   PMID:23071104   PMID:24052941   PMID:24115276   PMID:24162018   PMID:24303070   PMID:24344732  
PMID:24511991   PMID:24647585   PMID:24852367   PMID:25640183   PMID:26105184   PMID:26108805   PMID:26186194   PMID:26505415   PMID:26902720   PMID:27463143   PMID:27630294   PMID:27651098  
PMID:28337662   PMID:28514442   PMID:28586038   PMID:28733458   PMID:28971890   PMID:29269485   PMID:29662193   PMID:30355643   PMID:31036956   PMID:32392180   PMID:32460013   PMID:32534708  
PMID:32548991   PMID:33961781   PMID:34608506   PMID:36480042   PMID:36576714   PMID:36597142  


Genomics

Comparative Map Data
WNT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381746,762,506 - 46,818,692 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1746,762,506 - 46,833,154 (-)EnsemblGRCh38hg38GRCh38
GRCh371744,839,872 - 44,896,058 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17q21.31-q21.32NCBI
HuRef1740,218,240 - 40,274,537 (-)NCBIHuRef
CHM1_11744,903,996 - 44,960,278 (-)NCBICHM1_1
T2T-CHM13v2.01747,623,975 - 47,680,171 (-)NCBIT2T-CHM13v2.0
Wnt3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911103,665,000 - 103,708,854 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11103,664,976 - 103,708,783 (+)EnsemblGRCm39 Ensembl
GRCm3811103,774,175 - 103,818,021 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11103,774,150 - 103,817,957 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711103,635,489 - 103,679,335 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611103,590,314 - 103,634,047 (+)NCBIMGSCv36mm8
Celera11115,489,203 - 115,533,047 (+)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1167.5NCBI
Wnt3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81089,180,224 - 89,224,195 (+)NCBIGRCr8
mRatBN7.21088,680,198 - 88,724,170 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1088,680,248 - 88,724,099 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1093,718,545 - 93,762,264 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01093,183,701 - 93,227,397 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01088,577,058 - 88,620,776 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01091,830,709 - 91,874,907 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1091,830,654 - 91,874,793 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01091,597,106 - 91,641,213 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41092,925,605 - 92,969,613 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1087,379,436 - 87,423,461 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
WNT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1910,073,019 - 10,124,454 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl910,077,567 - 10,124,508 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha910,173,950 - 10,225,430 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0911,663,529 - 11,714,749 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl911,668,090 - 11,714,594 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1910,674,575 - 10,725,693 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0916,796,275 - 16,847,494 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0916,743,753 - 16,795,272 (+)NCBIUU_Cfam_GSD_1.0

Variants

.
Variants in WNT3
120 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_030753.5(WNT3):c.7C>T (p.Pro3Ser) single nucleotide variant Inborn genetic diseases [RCV003263398] Chr17:46818591 [GRCh38]
Chr17:44895957 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.*128C>T single nucleotide variant Tetraamelia, autosomal recessive [RCV000332487] Chr17:46764502 [GRCh38]
Chr17:44841868 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.800A>G (p.Lys267Arg) single nucleotide variant Tetraamelia, autosomal recessive [RCV000349916] Chr17:46768588 [GRCh38]
Chr17:44845954 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q21.31(chr17:44843136-44859143)x1 copy number loss not provided [RCV000752130] Chr17:44843136..44859143 [GRCh37]
Chr17:17q21.31
benign
GRCh37/hg19 17q21.31(chr17:44436494-44849188)x1 copy number loss not provided [RCV000739608] Chr17:44436494..44849188 [GRCh37]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)x3 copy number gain See cases [RCV000053135] Chr17:46444520..46990403 [GRCh38]
Chr17:44485771..45067769 [GRCh37]
Chr17:41841187..42422768 [NCBI36]
Chr17:17q21.31-21.32
uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_030753.5(WNT3):c.-53T>A single nucleotide variant Tetraamelia, autosomal recessive [RCV000281958] Chr17:46818650 [GRCh38]
Chr17:44896016 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.390C>G (p.Ser130=) single nucleotide variant not provided [RCV000591585] Chr17:46769981 [GRCh38]
Chr17:44847347 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.*97G>A single nucleotide variant Tetraamelia, autosomal recessive [RCV000388784] Chr17:46764533 [GRCh38]
Chr17:44841899 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.322+18A>G single nucleotide variant not provided [RCV001715158] Chr17:46773650 [GRCh38]
Chr17:44851016 [GRCh37]
Chr17:17q21.31
benign
NM_030753.5(WNT3):c.-29G>A single nucleotide variant Tetraamelia, autosomal recessive [RCV000374159] Chr17:46818626 [GRCh38]
Chr17:44895992 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_030753.5(WNT3):c.247C>T (p.Gln83Ter) single nucleotide variant Tetraamelia syndrome 1 [RCV000014823] Chr17:46773743 [GRCh38]
Chr17:44851109 [GRCh37]
Chr17:17q21.31
pathogenic
NM_030753.5(WNT3):c.322+19dup duplication not provided [RCV001659370] Chr17:46773640..46773641 [GRCh38]
Chr17:44851006..44851007 [GRCh37]
Chr17:17q21.31
benign
NM_030753.5(WNT3):c.216C>T (p.Gly72=) single nucleotide variant not provided [RCV003106664] Chr17:46773774 [GRCh38]
Chr17:44851140 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.322+28A>G single nucleotide variant not provided [RCV001662986] Chr17:46773640 [GRCh38]
Chr17:44851006 [GRCh37]
Chr17:17q21.31
benign
NM_030753.5(WNT3):c.322+38T>G single nucleotide variant not provided [RCV001715572] Chr17:46773630 [GRCh38]
Chr17:44850996 [GRCh37]
Chr17:17q21.31
benign
NM_030753.5(WNT3):c.323-293G>C single nucleotide variant not provided [RCV001635840] Chr17:46770341 [GRCh38]
Chr17:44847707 [GRCh37]
Chr17:17q21.31
benign
NM_030753.5(WNT3):c.309C>A (p.Pro103=) single nucleotide variant not provided [RCV000730146] Chr17:46773681 [GRCh38]
Chr17:44851047 [GRCh37]
Chr17:17q21.31
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q21.31(chr17:44629166-44870255)x1 copy number loss not provided [RCV000752127] Chr17:44629166..44870255 [GRCh37]
Chr17:17q21.31
benign
GRCh37/hg19 17q21.31(chr17:44848438-44865439)x1 copy number loss not provided [RCV000752131] Chr17:44848438..44865439 [GRCh37]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46130519-46799417)x1 copy number loss See cases [RCV000139073] Chr17:46130519..46799417 [GRCh38]
Chr17:44223908..44873614 [GRCh37]
Chr17:41563662..42231947 [NCBI36]
Chr17:17q21.31
benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_030753.5(WNT3):c.323-252C>G single nucleotide variant not provided [RCV001647989] Chr17:46770300 [GRCh38]
Chr17:44847666 [GRCh37]
Chr17:17q21.31
benign
NM_030753.5(WNT3):c.*8+232T>C single nucleotide variant not provided [RCV001724435] Chr17:46768080 [GRCh38]
Chr17:44845446 [GRCh37]
Chr17:17q21.31
benign
NM_030753.5(WNT3):c.271T>C (p.Cys91Arg) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV000172899] Chr17:46773719 [GRCh38]
Chr17:44851085 [GRCh37]
Chr17:17q21.31
likely pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_030753.5(WNT3):c.638G>A (p.Gly213Asp) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV000172906] Chr17:46768750 [GRCh38]
Chr17:44846116 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_030753.5(WNT3):c.*29T>C single nucleotide variant Tetraamelia, autosomal recessive [RCV000292663] Chr17:46764601 [GRCh38]
Chr17:44841967 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.322+18del deletion not provided [RCV002064320]|not specified [RCV000614235] Chr17:46773650 [GRCh38]
Chr17:44851016 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_030753.5(WNT3):c.50C>G (p.Thr17Ser) single nucleotide variant not provided [RCV000367585] Chr17:46818548 [GRCh38]
Chr17:44895914 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.4(WNT3):c.-112T>C single nucleotide variant Tetraamelia, autosomal recessive [RCV000334691] Chr17:46818709 [GRCh38]
Chr17:44896075 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.429G>A (p.Ser143=) single nucleotide variant not provided [RCV002059191]|not specified [RCV000374818] Chr17:46769942 [GRCh38]
Chr17:44847308 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_030753.5(WNT3):c.969G>A (p.Thr323=) single nucleotide variant not provided [RCV003108293] Chr17:46768419 [GRCh38]
Chr17:44845785 [GRCh37]
Chr17:17q21.31
likely benign
NC_000017.11:g.46819047G>T single nucleotide variant not provided [RCV001769841] Chr17:46819047 [GRCh38]
Chr17:44896413 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.80+53G>T single nucleotide variant not provided [RCV001768186] Chr17:46818465 [GRCh38]
Chr17:44895831 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.322+33C>G single nucleotide variant not provided [RCV001752976] Chr17:46773635 [GRCh38]
Chr17:44851001 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.80+72G>C single nucleotide variant not provided [RCV001753179] Chr17:46818446 [GRCh38]
Chr17:44895812 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.322+16T>G single nucleotide variant not provided [RCV001776532] Chr17:46773652 [GRCh38]
Chr17:44851018 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.322+34T>G single nucleotide variant not provided [RCV001769823] Chr17:46773634 [GRCh38]
Chr17:44851000 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.*8+140G>A single nucleotide variant not provided [RCV001752884] Chr17:46768172 [GRCh38]
Chr17:44845538 [GRCh37]
Chr17:17q21.31
likely benign
NC_000017.11:g.46819041C>A single nucleotide variant not provided [RCV001766180] Chr17:46819041 [GRCh38]
Chr17:44896407 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.322+33_322+34del deletion not provided [RCV001753114] Chr17:46773634..46773635 [GRCh38]
Chr17:44851000..44851001 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.81-194dup duplication not provided [RCV001766179] Chr17:46774102..46774103 [GRCh38]
Chr17:44851468..44851469 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.322+15C>G single nucleotide variant not provided [RCV001759335] Chr17:46773653 [GRCh38]
Chr17:44851019 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.589-210G>A single nucleotide variant not provided [RCV001759302] Chr17:46769009 [GRCh38]
Chr17:44846375 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.1051G>A (p.Val351Met) single nucleotide variant Inborn genetic diseases [RCV003170308]|not provided [RCV001971335] Chr17:46768337 [GRCh38]
Chr17:44845703 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.254G>A (p.Arg85Gln) single nucleotide variant not provided [RCV001874015] Chr17:46773736 [GRCh38]
Chr17:44851102 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.511G>C (p.Glu171Gln) single nucleotide variant not provided [RCV002040949] Chr17:46769860 [GRCh38]
Chr17:44847226 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.510G>T (p.Arg170Ser) single nucleotide variant not provided [RCV002044537] Chr17:46769861 [GRCh38]
Chr17:44847227 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.286G>C (p.Asp96His) single nucleotide variant not provided [RCV002034061] Chr17:46773704 [GRCh38]
Chr17:44851070 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.872G>A (p.Gly291Asp) single nucleotide variant not provided [RCV001888814] Chr17:46768516 [GRCh38]
Chr17:44845882 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.310G>A (p.Val104Ile) single nucleotide variant not provided [RCV001994157] Chr17:46773680 [GRCh38]
Chr17:44851046 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.23T>A (p.Leu8Gln) single nucleotide variant not provided [RCV001877416] Chr17:46818575 [GRCh38]
Chr17:44895941 [GRCh37]
Chr17:17q21.32
uncertain significance
NC_000017.10:g.(?_44845686)_(45016126_?)del deletion Progressive myoclonic epilepsy [RCV001972866] Chr17:44845686..45016126 [GRCh37]
Chr17:17q21.31-21.32
pathogenic
NM_030753.5(WNT3):c.136G>A (p.Gly46Ser) single nucleotide variant not provided [RCV002035996] Chr17:46773854 [GRCh38]
Chr17:44851220 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.81-16C>A single nucleotide variant not provided [RCV002127922] Chr17:46773925 [GRCh38]
Chr17:44851291 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.792G>A (p.Ser264=) single nucleotide variant not provided [RCV002086779] Chr17:46768596 [GRCh38]
Chr17:44845962 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.843C>T (p.Pro281=) single nucleotide variant not provided [RCV002153670] Chr17:46768545 [GRCh38]
Chr17:44845911 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.499T>C (p.Leu167=) single nucleotide variant not provided [RCV002186909] Chr17:46769872 [GRCh38]
Chr17:44847238 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.588+9G>A single nucleotide variant not provided [RCV002078437] Chr17:46769774 [GRCh38]
Chr17:44847140 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.774C>T (p.Thr258=) single nucleotide variant not provided [RCV002195705] Chr17:46768614 [GRCh38]
Chr17:44845980 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.921C>T (p.Ile307=) single nucleotide variant not provided [RCV002146670] Chr17:46768467 [GRCh38]
Chr17:44845833 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.711G>A (p.Lys237=) single nucleotide variant not provided [RCV002213072] Chr17:46768677 [GRCh38]
Chr17:44846043 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.135C>T (p.Cys45=) single nucleotide variant not provided [RCV002133102] Chr17:46773855 [GRCh38]
Chr17:44851221 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_030753.5(WNT3):c.519G>A (p.Ala173=) single nucleotide variant not provided [RCV002105534] Chr17:46769852 [GRCh38]
Chr17:44847218 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.588+13A>G single nucleotide variant not provided [RCV002196136] Chr17:46769770 [GRCh38]
Chr17:44847136 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.309C>G (p.Pro103=) single nucleotide variant not provided [RCV002076654] Chr17:46773681 [GRCh38]
Chr17:44851047 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.816G>A (p.Arg272=) single nucleotide variant not provided [RCV002172591] Chr17:46768572 [GRCh38]
Chr17:44845938 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.12C>T (p.His4=) single nucleotide variant not provided [RCV002164406] Chr17:46818586 [GRCh38]
Chr17:44895952 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.903T>C (p.Asn301=) single nucleotide variant not provided [RCV002144048] Chr17:46768485 [GRCh38]
Chr17:44845851 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.915C>T (p.His305=) single nucleotide variant not provided [RCV002154332] Chr17:46768473 [GRCh38]
Chr17:44845839 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.18C>T (p.Leu6=) single nucleotide variant not provided [RCV002200196] Chr17:46818580 [GRCh38]
Chr17:44895946 [GRCh37]
Chr17:17q21.32
benign
NM_030753.5(WNT3):c.588+18C>T single nucleotide variant not provided [RCV002123639] Chr17:46769765 [GRCh38]
Chr17:44847131 [GRCh37]
Chr17:17q21.31
likely benign
NC_000017.10:g.(?_44845686)_(45016126_?)dup duplication Progressive myoclonic epilepsy [RCV003113420] Chr17:44845686..45016126 [GRCh37]
Chr17:17q21.31-21.32
uncertain significance
NM_030753.5(WNT3):c.260G>A (p.Arg87His) single nucleotide variant Inborn genetic diseases [RCV003287414]|not provided [RCV003779980] Chr17:46773730 [GRCh38]
Chr17:44851096 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.436A>G (p.Lys146Glu) single nucleotide variant not provided [RCV002755061] Chr17:46769935 [GRCh38]
Chr17:44847301 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.13C>A (p.Leu5Met) single nucleotide variant Inborn genetic diseases [RCV002686616] Chr17:46818585 [GRCh38]
Chr17:44895951 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.522_542dup (p.Arg183_Ser184insGluAsnArgProAspAlaArg) duplication not provided [RCV002731636] Chr17:46769828..46769829 [GRCh38]
Chr17:44847194..44847195 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.396C>T (p.Ala132=) single nucleotide variant not provided [RCV002785828] Chr17:46769975 [GRCh38]
Chr17:44847341 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.413T>C (p.Ile138Thr) single nucleotide variant Inborn genetic diseases [RCV002888160] Chr17:46769958 [GRCh38]
Chr17:44847324 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.323-7C>T single nucleotide variant not provided [RCV002695128] Chr17:46770055 [GRCh38]
Chr17:44847421 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.80+3A>C single nucleotide variant not provided [RCV002871172] Chr17:46818515 [GRCh38]
Chr17:44895881 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.253C>T (p.Arg85Trp) single nucleotide variant not provided [RCV003018263] Chr17:46773737 [GRCh38]
Chr17:44851103 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.464G>C (p.Trp155Ser) single nucleotide variant not provided [RCV002867789] Chr17:46769907 [GRCh38]
Chr17:44847273 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.161A>G (p.Lys54Arg) single nucleotide variant not provided [RCV002569725] Chr17:46773829 [GRCh38]
Chr17:44851195 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.642C>T (p.Ser214=) single nucleotide variant not provided [RCV002621889] Chr17:46768746 [GRCh38]
Chr17:44846112 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.259C>T (p.Arg87Cys) single nucleotide variant Inborn genetic diseases [RCV003005780]|not provided [RCV003005779] Chr17:46773731 [GRCh38]
Chr17:44851097 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.528C>A (p.Arg176=) single nucleotide variant not provided [RCV003026206] Chr17:46769843 [GRCh38]
Chr17:44847209 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.518C>T (p.Ala173Val) single nucleotide variant Inborn genetic diseases [RCV002955179]|not provided [RCV003777991] Chr17:46769853 [GRCh38]
Chr17:44847219 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.831C>T (p.Tyr277=) single nucleotide variant not provided [RCV002575718] Chr17:46768557 [GRCh38]
Chr17:44845923 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.484G>T (p.Ala162Ser) single nucleotide variant not provided [RCV002852076] Chr17:46769887 [GRCh38]
Chr17:44847253 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.322+20G>C single nucleotide variant not provided [RCV002625425] Chr17:46773648 [GRCh38]
Chr17:44851014 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.81-10C>T single nucleotide variant not provided [RCV002741781] Chr17:46773919 [GRCh38]
Chr17:44851285 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.322+20G>T single nucleotide variant not provided [RCV002786501] Chr17:46773648 [GRCh38]
Chr17:44851014 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.588+20C>T single nucleotide variant not provided [RCV002594908] Chr17:46769763 [GRCh38]
Chr17:44847129 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.688A>G (p.Ile230Val) single nucleotide variant not provided [RCV002716190] Chr17:46768700 [GRCh38]
Chr17:44846066 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.588+8del deletion not provided [RCV002857477] Chr17:46769775 [GRCh38]
Chr17:44847141 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.378C>T (p.Ala126=) single nucleotide variant not provided [RCV002601097] Chr17:46769993 [GRCh38]
Chr17:44847359 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.710A>G (p.Lys237Arg) single nucleotide variant not provided [RCV002857486] Chr17:46768678 [GRCh38]
Chr17:44846044 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.589-7C>G single nucleotide variant not provided [RCV003027074] Chr17:46768806 [GRCh38]
Chr17:44846172 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.552G>C (p.Ser184=) single nucleotide variant not provided [RCV002606383] Chr17:46769819 [GRCh38]
Chr17:44847185 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.323-13G>T single nucleotide variant not provided [RCV002608431] Chr17:46770061 [GRCh38]
Chr17:44847427 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.94G>A (p.Gly32Ser) single nucleotide variant not provided [RCV003571135] Chr17:46773896 [GRCh38]
Chr17:44851262 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.258C>T (p.Gly86=) single nucleotide variant not provided [RCV003428319] Chr17:46773732 [GRCh38]
Chr17:44851098 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.80+10G>A single nucleotide variant not provided [RCV003689454] Chr17:46818508 [GRCh38]
Chr17:44895874 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.828C>T (p.Tyr276=) single nucleotide variant not provided [RCV003686707] Chr17:46768560 [GRCh38]
Chr17:44845926 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.318C>T (p.Asp106=) single nucleotide variant not provided [RCV003544011] Chr17:46773672 [GRCh38]
Chr17:44851038 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.877T>G (p.Phe293Val) single nucleotide variant not provided [RCV003580548] Chr17:46768511 [GRCh38]
Chr17:44845877 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.540G>A (p.Pro180=) single nucleotide variant not provided [RCV003697968] Chr17:46769831 [GRCh38]
Chr17:44847197 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.444G>T (p.Pro148=) single nucleotide variant not provided [RCV003833416] Chr17:46769927 [GRCh38]
Chr17:44847293 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.81-17C>A single nucleotide variant not provided [RCV003840360] Chr17:46773926 [GRCh38]
Chr17:44851292 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.810G>A (p.Thr270=) single nucleotide variant not provided [RCV003561355] Chr17:46768578 [GRCh38]
Chr17:44845944 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.997A>G (p.Ile333Val) single nucleotide variant not provided [RCV003701085] Chr17:46768391 [GRCh38]
Chr17:44845757 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.355G>A (p.Ala119Thr) single nucleotide variant not provided [RCV003723549] Chr17:46770016 [GRCh38]
Chr17:44847382 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.690C>T (p.Ile230=) single nucleotide variant not provided [RCV003725144] Chr17:46768698 [GRCh38]
Chr17:44846064 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.16C>T (p.Leu6Phe) single nucleotide variant not provided [RCV003871070] Chr17:46818582 [GRCh38]
Chr17:44895948 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.717C>T (p.Asp239=) single nucleotide variant not provided [RCV003684509] Chr17:46768671 [GRCh38]
Chr17:44846037 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.73A>G (p.Ile25Val) single nucleotide variant not provided [RCV003860523] Chr17:46818525 [GRCh38]
Chr17:44895891 [GRCh37]
Chr17:17q21.32
uncertain significance

Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC217780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY009397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF515681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ970110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX872929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB462855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000225512   ⟹   ENSP00000225512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,762,506 - 46,818,692 (-)Ensembl
RefSeq Acc Id: ENST00000572508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,830,595 - 46,833,058 (-)Ensembl
RefSeq Acc Id: ENST00000573788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,773,842 - 46,833,033 (-)Ensembl
RefSeq Acc Id: ENST00000576471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,830,718 - 46,833,154 (-)Ensembl
RefSeq Acc Id: ENST00000706483   ⟹   ENSP00000516407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,762,618 - 46,772,287 (-)Ensembl
RefSeq Acc Id: ENST00000706484   ⟹   ENSP00000516408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,762,821 - 46,771,471 (-)Ensembl
RefSeq Acc Id: ENST00000706485   ⟹   ENSP00000516409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,763,878 - 46,771,447 (-)Ensembl
RefSeq Acc Id: ENST00000706495   ⟹   ENSP00000516418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,762,643 - 46,833,084 (-)Ensembl
RefSeq Acc Id: NM_030753   ⟹   NP_110380
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,762,506 - 46,818,692 (-)NCBI
T2T-CHM13v2.01747,623,975 - 47,680,171 (-)NCBI
Sequence:
RefSeq Acc Id: NP_110380   ⟸   NM_030753
- Peptide Label: precursor
- UniProtKB: Q2M237 (UniProtKB/Swiss-Prot),   Q9H1J9 (UniProtKB/Swiss-Prot),   P56703 (UniProtKB/Swiss-Prot),   A0A9L9PXJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000225512   ⟸   ENST00000225512
RefSeq Acc Id: ENSP00000516408   ⟸   ENST00000706484
RefSeq Acc Id: ENSP00000516418   ⟸   ENST00000706495
RefSeq Acc Id: ENSP00000516409   ⟸   ENST00000706485
RefSeq Acc Id: ENSP00000516407   ⟸   ENST00000706483

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P56703-F1-model_v2 AlphaFold P56703 1-355 view protein structure

Promoters
RGD ID:7235377
Promoter ID:EPDNEW_H23434
Type:initiation region
Name:WNT3_1
Description:Wnt family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,818,692 - 46,818,752EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC WNT3 COSMIC
Ensembl Genes ENSG00000108379 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000277626 UniProtKB/Swiss-Prot
  ENSG00000277641 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000225512 ENTREZGENE
  ENST00000225512.6 UniProtKB/Swiss-Prot
  ENST00000611547.1 UniProtKB/Swiss-Prot
  ENST00000616347.2 UniProtKB/Swiss-Prot
  ENST00000706483.1 UniProtKB/TrEMBL
  ENST00000706484.1 UniProtKB/TrEMBL
  ENST00000706485.1 UniProtKB/TrEMBL
  ENST00000706495.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.2460.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108379 GTEx
  ENSG00000277626 GTEx
  ENSG00000277641 GTEx
HGNC ID HGNC:12782 ENTREZGENE
Human Proteome Map WNT3 Human Proteome Map
InterPro Wnt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7473 UniProtKB/Swiss-Prot
NCBI Gene WNT3 ENTREZGENE
OMIM 165330 OMIM
PANTHER PROTO-ONCOGENE WNT-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam wnt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37383 PharmGKB
PRINTS WNT3PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WNTPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WNT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WNT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A9L9PXI5_HUMAN UniProtKB/TrEMBL
  A0A9L9PXJ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PXK4_HUMAN UniProtKB/TrEMBL
  P56703 ENTREZGENE
  Q2M237 ENTREZGENE
  Q9H1J9 ENTREZGENE
  WNT3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q2M237 UniProtKB/Swiss-Prot
  Q9H1J9 UniProtKB/Swiss-Prot