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Cellular communication network factor 6 (CCN family member 6) (WNT1-inducible-signaling pathway protein 3) (WISP-3)

 CCN6_HUMAN              Reviewed;         354 AA.
O95389; Q3KR29; Q5H8W4; Q6UXH6;
15-AUG-2003, integrated into UniProtKB/Swiss-Prot.
01-MAY-1999, sequence version 1.
22-APR-2020, entry version 158.
RecName: Full=Cellular communication network factor 6;
AltName: Full=CCN family member 6;
AltName: Full=WNT1-inducible-signaling pathway protein 3 {ECO:0000303|PubMed:9843955};
Short=WISP-3 {ECO:0000303|PubMed:9843955};
Flags: Precursor;
Name=CCN6 {ECO:0000312|HGNC:HGNC:12771};
Synonyms=WISP3 {ECO:0000312|HGNC:HGNC:12771};
ORFNames=UNQ462/PRO790/PRO956;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
TISSUE=Bone marrow, and Fetal kidney;
PubMed=9843955; DOI=10.1073/pnas.95.25.14717;
Pennica D., Swanson T.A., Welsh J.W., Roy M.A., Lawrence D.A., Lee J.,
Brush J., Taneyhill L.A., Deuel B., Lew M., Watanabe C., Cohen R.L.,
Melham M.F., Finley G.G., Quirke P., Goddard A.D., Hillan K.J.,
Gurney A.L., Botstein D., Levine A.J.;
"WISP genes are members of the connective tissue growth factor family that
are up-regulated in wnt-1-transformed cells and aberrantly expressed in
human colon tumors.";
Proc. Natl. Acad. Sci. U.S.A. 95:14717-14722(1998).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
PubMed=12975309; DOI=10.1101/gr.1293003;
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale effort to
identify novel human secreted and transmembrane proteins: a bioinformatics
assessment.";
Genome Res. 13:2265-2270(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=14574404; DOI=10.1038/nature02055;
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
Rogers J., Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project:
the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
SUBCELLULAR LOCATION, AND FUNCTION.
PubMed=27252383; DOI=10.1242/jcs.186247;
Patra M., Mahata S.K., Padhan D.K., Sen M.;
"CCN6 regulates mitochondrial function.";
J. Cell Sci. 129:2841-2851(2016).
[7]
INVOLVEMENT IN PPAC, VARIANTS PPAC ARG-78 AND TYR-145, VARIANT HIS-56,
TISSUE SPECIFICITY, AND FUNCTION.
PubMed=10471507; DOI=10.1038/12699;
Hurvitz J.R., Suwairi W.M., Van Hul W., El-Shanti H., Superti-Furga A.,
Roudier J., Holderbaum D., Pauli R.M., Herd J.K., Van Hul E.V.,
Rezai-Delui H., Legius E., Le Merrer M., Al-Alami J., Bahabri S.A.,
Warman M.L.;
"Mutations in the CCN gene family member WISP3 cause progressive
pseudorheumatoid dysplasia.";
Nat. Genet. 23:94-98(1999).
[8]
VARIANTS PPAC 52-CYS--LEU-354 DEL AND ARG-78, AND VARIANTS HIS-56 AND
GLU-83.
PubMed=16152649; DOI=10.1002/ajmg.a.30906;
Delague V., Chouery E., Corbani S., Ghanem I., Aamar S., Fischer J.,
Levy-Lahad E., Urtizberea J.A., Megarbane A.;
"Molecular study of WISP3 in nine families originating from the Middle-East
and presenting with progressive pseudorheumatoid dysplasia: identification
of two novel mutations, and description of a founder effect.";
Am. J. Med. Genet. A 138A:118-126(2005).
[9]
VARIANTS PPAC 46-GLN--LEU-354 DEL AND TYR-114.
PubMed=19064006; DOI=10.1016/j.bone.2008.11.005;
Yue H., Zhang Z.L., He J.W.;
"Identification of novel mutations in WISP3 gene in two unrelated Chinese
families with progressive pseudorheumatoid dysplasia.";
Bone 44:547-554(2009).
[10]
VARIANTS PPAC 52-CYS--LEU-354 DEL; TYR-78; ARG-114; 116-TYR--LEU-354 DEL;
ARG-145; PRO-228; GLY-268 AND TYR-337, AND VARIANT GLU-83.
PubMed=22987568; DOI=10.1002/ajmg.a.35620;
Dalal A., Bhavani G.S., Togarrati P.P., Bierhals T., Nandineni M.R.,
Danda S., Danda D., Shah H., Vijayan S., Gowrishankar K., Phadke S.R.,
Bidchol A.M., Rao A.P., Nampoothiri S., Kutsche K., Girisha K.M.;
"Analysis of the WISP3 gene in Indian families with progressive
pseudorheumatoid dysplasia.";
Am. J. Med. Genet. A 158A:2820-2828(2012).
[11]
VARIANTS PPAC TRP-114 AND PRO-334.
PubMed=22685593; DOI=10.1371/journal.pone.0038643;
Sun J., Xia W., He S., Zhao Z., Nie M., Li M., Jiang Y., Xing X., Wang O.,
Meng X., Zhou X.;
"Novel and recurrent mutations of WISP3 in two Chinese families with
progressive pseudorheumatoid dysplasia.";
PLoS ONE 7:E38643-E38643(2012).
[12]
VARIANTS PPAC 52-CYS--LEU-354 DEL; TYR-78; PHE-99; SER-100;
116-TYR--LEU-354 DEL; ARG-145; 177-SER--LEU-354 DEL; VAL-226 AND TYR-337.
PubMed=25988854; DOI=10.1002/ajmg.a.37164;
Bhavani G.S., Shah H., Dalal A.B., Shukla A., Danda S., Aggarwal S.,
Phadke S.R., Gupta N., Kabra M., Gowrishankar K., Gupta A., Bhat M.,
Puri R.D., Bijarnia-Mahay S., Nampoothiri S., Mohanasundaram K.M.,
Rajeswari S., Kulkarni A.M., Kulkarni M.L., Ranganath P., Ramadevi A.R.,
Hariharan S.V., Girisha K.M.;
"Novel and recurrent mutations in WISP3 and an atypical phenotype.";
Am. J. Med. Genet. A 167A:2481-2484(2015).
[13]
VARIANTS PPAC GLY-223 AND 252-CYS--LEU-354 DEL.
PubMed=25794430; DOI=10.1016/j.gene.2015.03.029;
Luo H., Shi C., Mao C., Jiang C., Bao D., Guo J., Du P., Wang Y., Liu Y.,
Liu X., Song B., Xu Y.;
"A novel compound WISP3 mutation in a Chinese family with progressive
pseudorheumatoid dysplasia.";
Gene 564:35-38(2015).
[14]
VARIANTS PPAC 46-GLN--LEU-354 DEL; TRP-114; GLY-223 AND 286-SER--LEU-354
DEL.
PubMed=25738435; DOI=10.3892/mmr.2015.3430;
Yu Y., Hu M., Xing X., Li F., Song Y., Luo Y., Ma H.;
"Identification of a mutation in the WISP3 gene in three unrelated families
with progressive pseudorheumatoid dysplasia.";
Mol. Med. Report. 12:419-425(2015).
[15]
VARIANTS PPAC 52-CYS--LEU-354 DEL; TYR-78; 116-TYR--LEU-354 DEL; VAL-226
AND TYR-337.
PubMed=27436824; DOI=10.1302/2046-3758.57.2000520;
Madhuri V., Santhanam M., Rajagopal K., Sugumar L.K., Balaji V.;
"WISP3 mutational analysis in Indian patients diagnosed with progressive
pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.";
Bone Joint Res. 5:301-306(2016).
[16]
VARIANT PPAC 52-CYS--LEU-354 DEL.
PubMed=29092958; DOI=10.1101/mcs.a001990;
Sailani M.R., Chappell J., Jingga I., Narasimha A., Zia A., Lynch J.L.,
Mazrouei S., Bernstein J.A., Aryani O., Snyder M.P.;
"WISP3 mutation associated with pseudorheumatoid dysplasia.";
Cold Spring Harb. Mol. Case Stud. 4:0-0(2018).
-!- FUNCTION: Plays a role in mitochondrial electron transport and
mitochondrial respiration (PubMed:27252383). Through its regulation of
the mitochondrial function may play a role in normal postnatal skeletal
growth and cartilage homeostasis (PubMed:27252383, PubMed:10471507).
{ECO:0000269|PubMed:10471507, ECO:0000269|PubMed:27252383}.
-!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:27252383}.
Mitochondrion {ECO:0000269|PubMed:27252383}. Note=Associated with
membranes. {ECO:0000269|PubMed:27252383}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=O95389-1; Sequence=Displayed;
Name=2;
IsoId=O95389-2; Sequence=VSP_037803;
-!- TISSUE SPECIFICITY: Predominant expression in adult kidney and testis
and fetal kidney. Weaker expression found in placenta, ovary, prostate
and small intestine (PubMed:9843955, PubMed:10471507). Also expressed
in skeletally-derived cells such as synoviocytes and articular
cartilage chondrocytes (PubMed:10471507). {ECO:0000269|PubMed:10471507,
ECO:0000269|PubMed:9843955}.
-!- DISEASE: Progressive pseudorheumatoid arthropathy of childhood (PPAC)
[MIM:208230]: Autosomal recessive disorder characterized by stiffness
and swelling of joints, motor weakness and joint contractures. Signs
and symptoms of the disease develop typically between three and eight
years of age. This progressive disease is a primary disorder of
articular cartilage with continued cartilage loss and destructive bone
changes with aging. {ECO:0000269|PubMed:10471507,
ECO:0000269|PubMed:16152649, ECO:0000269|PubMed:19064006,
ECO:0000269|PubMed:22685593, ECO:0000269|PubMed:22987568,
ECO:0000269|PubMed:25738435, ECO:0000269|PubMed:25794430,
ECO:0000269|PubMed:25988854, ECO:0000269|PubMed:27436824,
ECO:0000269|PubMed:29092958}. Note=The disease is caused by mutations
affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the CCN family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
Haematology;
URL="http://atlasgeneticsoncology.org/Genes/WISP3ID469ch6q22.html";
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EMBL; AF100781; AAC96323.1; -; mRNA.
EMBL; AY358349; AAQ88715.1; -; mRNA.
EMBL; AY358350; AAQ88716.1; -; mRNA.
EMBL; Z99289; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL512299; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471051; EAW48273.1; -; Genomic_DNA.
EMBL; CH471051; EAW48275.1; -; Genomic_DNA.
EMBL; BC105941; AAI05942.1; -; mRNA.
CCDS; CCDS5097.1; -. [O95389-1]
CCDS; CCDS5098.1; -. [O95389-1]
RefSeq; NP_003871.1; NM_003880.3. [O95389-1]
RefSeq; NP_937882.1; NM_198239.1. [O95389-1]
RefSeq; XP_011534522.1; XM_011536220.1. [O95389-1]
SMR; O95389; -.
BioGrid; 114365; 6.
IntAct; O95389; 4.
STRING; 9606.ENSP00000357655; -.
iPTMnet; O95389; -.
PhosphoSitePlus; O95389; -.
BioMuta; WISP3; -.
PaxDb; O95389; -.
PeptideAtlas; O95389; -.
PRIDE; O95389; -.
ProteomicsDB; 50840; -. [O95389-1]
ProteomicsDB; 50841; -. [O95389-2]
Antibodypedia; 32438; 177 antibodies.
Ensembl; ENST00000230529; ENSP00000230529; ENSG00000112761. [O95389-1]
Ensembl; ENST00000361714; ENSP00000354734; ENSG00000112761. [O95389-1]
Ensembl; ENST00000368666; ENSP00000357655; ENSG00000112761. [O95389-2]
Ensembl; ENST00000604763; ENSP00000473777; ENSG00000112761. [O95389-1]
GeneID; 8838; -.
KEGG; hsa:8838; -.
UCSC; uc003pvm.4; human. [O95389-1]
CTD; 8838; -.
DisGeNET; 8838; -.
GeneCards; CCN6; -.
GeneReviews; WISP3; -.
HGNC; HGNC:12771; CCN6.
HPA; ENSG00000112761; Tissue enhanced (epididymis).
MalaCards; CCN6; -.
MIM; 208230; phenotype.
MIM; 603400; gene.
neXtProt; NX_O95389; -.
OpenTargets; ENSG00000112761; -.
Orphanet; 1159; Progressive pseudorheumatoid arthropathy of childhood.
PharmGKB; PA37374; -.
eggNOG; ENOG410IJZE; Eukaryota.
eggNOG; ENOG4110BH0; LUCA.
GeneTree; ENSGT00940000160119; -.
HOGENOM; CLU_063247_2_0_1; -.
InParanoid; O95389; -.
KO; K23090; -.
OMA; LDKRCCV; -.
OrthoDB; 601212at2759; -.
PhylomeDB; O95389; -.
TreeFam; TF326070; -.
GeneWiki; WNT1-inducible-signaling_pathway_protein_3; -.
GenomeRNAi; 8838; -.
Pharos; O95389; Tbio.
PRO; PR:O95389; -.
Proteomes; UP000005640; Chromosome 6.
RNAct; O95389; protein.
Bgee; ENSG00000112761; Expressed in tibia and 89 other tissues.
ExpressionAtlas; O95389; baseline and differential.
Genevisible; O95389; HS.
GO; GO:0005783; C:endoplasmic reticulum; IDA:HPA.
GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
GO; GO:0005615; C:extracellular space; IDA:UniProtKB.
GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
GO; GO:0008083; F:growth factor activity; IEA:UniProtKB-KW.
GO; GO:0008201; F:heparin binding; IBA:GO_Central.
GO; GO:0005520; F:insulin-like growth factor binding; IEA:InterPro.
GO; GO:0005178; F:integrin binding; IBA:GO_Central.
GO; GO:0007155; P:cell adhesion; IBA:GO_Central.
GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
GO; GO:0016525; P:negative regulation of angiogenesis; IDA:MGI.
GO; GO:0060548; P:negative regulation of cell death; IBA:GO_Central.
GO; GO:0008285; P:negative regulation of cell population proliferation; IDA:MGI.
GO; GO:0051881; P:regulation of mitochondrial membrane potential; IMP:UniProtKB.
GO; GO:1903426; P:regulation of reactive oxygen species biosynthetic process; IMP:UniProtKB.
GO; GO:0007165; P:signal transduction; IBA:GO_Central.
Gene3D; 2.20.100.10; -; 1.
InterPro; IPR006207; Cys_knot_C.
InterPro; IPR006208; Glyco_hormone_CN.
InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
InterPro; IPR000867; IGFBP-like.
InterPro; IPR012395; IGFBP_CNN.
InterPro; IPR017891; Insulin_GF-bd_Cys-rich_CS.
InterPro; IPR000884; TSP1_rpt.
InterPro; IPR036383; TSP1_rpt_sf.
Pfam; PF00007; Cys_knot; 1.
Pfam; PF00219; IGFBP; 1.
PIRSF; PIRSF036495; IGFBP_rP_CNN; 1.
SMART; SM00041; CT; 1.
SMART; SM00121; IB; 1.
SMART; SM00209; TSP1; 1.
SUPFAM; SSF57184; SSF57184; 1.
SUPFAM; SSF82895; SSF82895; 1.
PROSITE; PS01225; CTCK_2; 1.
PROSITE; PS00222; IGFBP_N_1; 1.
PROSITE; PS51323; IGFBP_N_2; 1.
PROSITE; PS50092; TSP1; 1.
1: Evidence at protein level;
Alternative splicing; Disease mutation; Disulfide bond; Glycoprotein;
Growth factor; Mitochondrion; Polymorphism; Reference proteome; Secreted;
Signal.
SIGNAL 1..23
/evidence="ECO:0000255"
CHAIN 24..354
/note="Cellular communication network factor 6"
/id="PRO_0000014412"
DOMAIN 44..117
/note="IGFBP N-terminal"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00653"
DOMAIN 208..253
/note="TSP type-1"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
DOMAIN 268..342
/note="CTCK"
/evidence="ECO:0000255|PROSITE-ProRule:PRU00039"
CARBOHYD 178
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
CARBOHYD 308
/note="N-linked (GlcNAc...) asparagine"
/evidence="ECO:0000255"
DISULFID 268..305
/evidence="ECO:0000250"
DISULFID 285..319
/evidence="ECO:0000250"
DISULFID 296..335
/evidence="ECO:0000250"
DISULFID 299..337
/evidence="ECO:0000250"
DISULFID 304..341
/evidence="ECO:0000250"
VAR_SEQ 1
/note="M -> MNKRRLLYPSGWLHGPSDM (in isoform 2)"
/evidence="ECO:0000303|PubMed:12975309,
ECO:0000303|PubMed:15489334"
/id="VSP_037803"
VARIANT 46..354
/note="Missing (in PPAC)"
/evidence="ECO:0000269|PubMed:19064006,
ECO:0000269|PubMed:25738435"
/id="VAR_081483"
VARIANT 52..354
/note="Missing (in PPAC)"
/evidence="ECO:0000269|PubMed:16152649,
ECO:0000269|PubMed:22987568, ECO:0000269|PubMed:25988854,
ECO:0000269|PubMed:27436824, ECO:0000269|PubMed:29092958"
/id="VAR_081484"
VARIANT 56
/note="Q -> H (common polymorphism; dbSNP:rs1230345)"
/evidence="ECO:0000269|PubMed:10471507,
ECO:0000269|PubMed:16152649"
/id="VAR_016224"
VARIANT 60
/note="R -> C (in dbSNP:rs17073260)"
/id="VAR_049567"
VARIANT 78
/note="C -> R (in PPAC; dbSNP:rs121908902)"
/evidence="ECO:0000269|PubMed:10471507,
ECO:0000269|PubMed:16152649"
/id="VAR_016225"
VARIANT 78
/note="C -> Y (in PPAC)"
/evidence="ECO:0000269|PubMed:22987568,
ECO:0000269|PubMed:25988854, ECO:0000269|PubMed:27436824"
/id="VAR_081485"
VARIANT 83
/note="G -> E (in dbSNP:rs147337485)"
/evidence="ECO:0000269|PubMed:16152649,
ECO:0000269|PubMed:22987568"
/id="VAR_081486"
VARIANT 99
/note="Y -> F (in PPAC; unknown pathological significance)"
/evidence="ECO:0000269|PubMed:25988854"
/id="VAR_081652"
VARIANT 100
/note="C -> S (in PPAC; unknown pathological significance)"
/evidence="ECO:0000269|PubMed:25988854"
/id="VAR_081653"
VARIANT 114
/note="C -> R (in PPAC)"
/evidence="ECO:0000269|PubMed:22987568"
/id="VAR_081487"
VARIANT 114
/note="C -> W (in PPAC)"
/evidence="ECO:0000269|PubMed:22685593,
ECO:0000269|PubMed:25738435"
/id="VAR_081488"
VARIANT 114
/note="C -> Y (in PPAC)"
/evidence="ECO:0000269|PubMed:19064006"
/id="VAR_081654"
VARIANT 116..354
/note="Missing (in PPAC)"
/evidence="ECO:0000269|PubMed:22987568,
ECO:0000269|PubMed:25988854, ECO:0000269|PubMed:27436824"
/id="VAR_081489"
VARIANT 145
/note="C -> R (in PPAC; unknown pathological significance)"
/evidence="ECO:0000269|PubMed:22987568,
ECO:0000269|PubMed:25988854"
/id="VAR_081490"
VARIANT 145
/note="C -> Y (in PPAC; unknown pathological significance;
dbSNP:rs121908899)"
/evidence="ECO:0000269|PubMed:10471507"
/id="VAR_081655"
VARIANT 177..354
/note="Missing (in PPAC)"
/evidence="ECO:0000269|PubMed:25988854"
/id="VAR_081656"
VARIANT 223
/note="C -> G (in PPAC; dbSNP:rs782813346)"
/evidence="ECO:0000269|PubMed:25738435,
ECO:0000269|PubMed:25794430"
/id="VAR_081491"
VARIANT 226
/note="G -> V (in PPAC)"
/evidence="ECO:0000269|PubMed:25988854,
ECO:0000269|PubMed:27436824"
/id="VAR_081657"
VARIANT 228
/note="S -> P (in PPAC; unknown pathological significance)"
/evidence="ECO:0000269|PubMed:22987568"
/id="VAR_081492"
VARIANT 252..354
/note="Missing (in PPAC)"
/evidence="ECO:0000269|PubMed:25794430"
/id="VAR_081658"
VARIANT 268
/note="C -> G (in PPAC; unknown pathological significance)"
/evidence="ECO:0000269|PubMed:22987568"
/id="VAR_081493"
VARIANT 286..354
/note="Missing (in PPAC)"
/evidence="ECO:0000269|PubMed:25738435"
/id="VAR_081494"
VARIANT 334
/note="S -> P (in PPAC; dbSNP:rs121908903)"
/evidence="ECO:0000269|PubMed:22685593"
/id="VAR_081659"
VARIANT 337
/note="C -> Y (in PPAC)"
/evidence="ECO:0000269|PubMed:22987568,
ECO:0000269|PubMed:25988854, ECO:0000269|PubMed:27436824"
/id="VAR_081495"
CONFLICT 200
/note="N -> D (in Ref. 2; AAQ88715)"
/evidence="ECO:0000305"
SEQUENCE 354 AA; 39293 MW; 67F48D0D5C2F5EE3 CRC64;
MQGLLFSTLL LAGLAQFCCR VQGTGPLDTT PEGRPGEVSD APQRKQFCHW PCKCPQQKPR
CPPGVSLVRD GCGCCKICAK QPGEICNEAD LCDPHKGLYC DYSVDRPRYE TGVCAYLVAV
GCEFNQVHYH NGQVFQPNPL FSCLCVSGAI GCTPLFIPKL AGSHCSGAKG GKKSDQSNCS
LEPLLQQLST SYKTMPAYRN LPLIWKKKCL VQATKWTPCS RTCGMGISNR VTNENSNCEM
RKEKRLCYIQ PCDSNILKTI KIPKGKTCQP TFQLSKAEKF VFSGCSSTQS YKPTFCGICL
DKRCCIPNKS KMITIQFDCP NEGSFKWKML WITSCVCQRN CREPGDIFSE LKIL


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Related Genes :
[Ccn6 Wisp3] Cellular communication network factor 6 (CCN family member 6) (WNT1-inducible-signaling pathway protein 3) (WISP-3)
[Ccn3 Nov] CCN family member 3 (Cellular communication network factor 3) (Nephroblastoma-overexpressed gene protein homolog) (Protein NOV homolog) (NovH)
[CCN3 IGFBP9 NOV NOVH] CCN family member 3 (Cellular communication network factor 3) (Insulin-like growth factor-binding protein 9) (IBP-9) (IGF-binding protein 9) (IGFBP-9) (Nephro blastoma-overexpressed gene protein homolog) (Protein NOV homolog) (NovH)
[Ccn3 Nov] CCN family member 3 (Cellular communication network factor 3) (Nephroblastoma-overexpressed gene protein homolog) (Protein NOV homolog) (NovH)
[CCN2 CTGF HCS24 IGFBP8] CCN family member 2 (Cellular communication network factor 2) (Connective tissue growth factor) (Hypertrophic chondrocyte-specific protein 24) (Insulin-like growth factor-binding protein 8) (IBP-8) (IGF-binding protein 8) (IGFBP-8)
[cwn-1 wnt-1 K10B4.6] Protein Wnt-1
[Hspa5 Grp78] Endoplasmic reticulum chaperone BiP (EC 3.6.4.10) (78 kDa glucose-regulated protein) (GRP-78) (Binding-immunoglobulin protein) (BiP) (Heat shock protein 70 family protein 5) (HSP70 family protein 5) (Heat shock protein family A member 5) (Immunoglobulin heavy chain-binding protein)
[Ifitm3] Interferon-induced transmembrane protein 3 (Dispanin subfamily A member 2b) (DSPA2b) (Fragilis protein) (Interferon-inducible protein 15) (Mouse ifitm-like protein 1) (Mil-1)
[Socs3 Cis3 Cish3] Suppressor of cytokine signaling 3 (SOCS-3) (Cytokine-inducible SH2 protein 3) (CIS-3) (Protein EF-10)
[Smarca4 Baf190a Brg1 Snf2b Snf2l4] Transcription activator BRG1 (EC 3.6.4.-) (ATP-dependent helicase SMARCA4) (BRG1-associated factor 190A) (BAF190A) (Protein brahma homolog 1) (SNF2-beta) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4)
[Aldh3a1 Ahd-4 Ahd4 Aldh3 Aldh4] Aldehyde dehydrogenase, dimeric NADP-preferring (EC 1.2.1.5) (Aldehyde dehydrogenase 4) (Aldehyde dehydrogenase family 3 member A1) (Dioxin-inducible aldehyde dehydrogenase 3)
[Irgm1 Ifi1 Iigp3 Irgm] Immunity-related GTPase family M protein 1 (EC 3.6.5.-) (Interferon-inducible GTPase 3) (Interferon-inducible protein 1) (LPS-stimulated RAW 264.7 macrophage protein 47) (LRG-47)
[Tas1r3 Sac T1r3 Tr3] Taste receptor type 1 member 3 (Saccharin preference protein) (Sweet taste receptor T1R3)
[Tlr4 Lps] Toll-like receptor 4 (EC 3.2.2.6) (CD antigen CD284)
[RHOU ARHU CDC42L1 G28K WRCH1 SB128] Rho-related GTP-binding protein RhoU (CDC42-like GTPase 1) (GTP-binding protein-like 1) (Rho GTPase-like protein ARHU) (Ryu GTPase) (Wnt-1 responsive Cdc42 homolog 1) (WRCH-1)
[Traf6] TNF receptor-associated factor 6 (EC 2.3.2.27) (E3 ubiquitin-protein ligase TRAF6) (RING-type E3 ubiquitin transferase TRAF6)
[Celf1 Brunol2 Cugbp Cugbp1] CUGBP Elav-like family member 1 (CELF-1) (50 kDa nuclear polyadenylated RNA-binding protein) (Brain protein F41) (Bruno-like protein 2) (CUG triplet repeat RNA-binding protein 1) (CUG-BP1) (CUG-BP- and ETR-3-like factor 1) (Deadenylation factor CUG-BP) (Deadenylation factor EDEN-BP) (Embryo deadenylation element-binding protein homolog) (EDEN-BP homolog) (RNA-binding protein BRUNOL-2)
[Tsc22d3 Dsip1 Dsipi Gilz] TSC22 domain family protein 3 (Glucocorticoid-induced leucine zipper protein) (TSC22-related-inducible leucine zipper 3) (Tilz3)
[Nfkb1] Nuclear factor NF-kappa-B p105 subunit (DNA-binding factor KBF1) (EBP-1) (NF-kappa-B1 p84/NF-kappa-B1 p98) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1) [Cleaved into: Nuclear factor NF-kappa-B p50 subunit]
[Nr2f6 Ear-2 Ear2 Erbal2] Nuclear receptor subfamily 2 group F member 6 (COUP transcription factor 3) (COUP-TF3) (V-erbA-related protein 2) (EAR-2)
[Hltf Smarca3 Snf2l3 Zbu1] Helicase-like transcription factor (EC 2.3.2.27) (EC 3.6.4.-) (P113) (RING-type E3 ubiquitin transferase HLTF) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3) (Sucrose nonfermenting protein 2-like 3) (TNF-response element-binding protein)
[Klf11 Tieg2b Tieg3] Krueppel-like factor 11 (TGFB-inducible early growth response protein 2b) (Transforming growth factor-beta-inducible early growth response protein 3) (TGFB-inducible early growth response protein 3) (TIEG-3)
[Lrp6] Low-density lipoprotein receptor-related protein 6 (LRP-6)
[Tgtp1 Ifggb5 Irgb6 Mg21] T-cell-specific guanine nucleotide triphosphate-binding protein 1 (EC 3.6.5.-) (Interferon-gamma-inducible GTPase Ifggb5)
[Steap3 Tsap6] Metalloreductase STEAP3 (EC 1.16.1.-) (Dudulin-2) (Protein nm1054) (Six-transmembrane epithelial antigen of prostate 3) (Tumor suppressor-activated pathway protein 6)
[Fas Apt1 Tnfrsf6] Tumor necrosis factor receptor superfamily member 6 (Apo-1 antigen) (Apoptosis-mediating surface antigen FAS) (FASLG receptor) (CD antigen CD95)
[Stra6] Receptor for retinol uptake STRA6 (Retinoic acid-responsive protein) (Retinol-binding protein receptor STRA6) (Stimulated by retinoic acid gene 6 protein)
[Ptpn6 Hcp Hcph Ptp1C] Tyrosine-protein phosphatase non-receptor type 6 (EC 3.1.3.48) (70Z-SHP) (Hematopoietic cell protein-tyrosine phosphatase) (PTPTY-42) (Protein-tyrosine phosphatase 1C) (PTP-1C) (SH-PTP1) (SHP-1)
[Arl6ip5 Aip5 Jwa Pra2 Praf3] PRA1 family protein 3 (ADP-ribosylation factor-like protein 6-interacting protein 5) (ARL-6-interacting protein 5) (Aip-5) (Addicsin) (GTRAP3-18) (Glutamate transporter EAAC1-interacting protein) (Prenylated Rab acceptor protein 2) (Protein JWa)
[Tnfrsf21 Dr6] Tumor necrosis factor receptor superfamily member 21 (Death receptor 6) (CD antigen CD358)

Bibliography :