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Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_001029871 Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA. ORF Sequence $204.45
Peptide Services
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RefSeq Version NM_001029871.3, 260064014
Length 2725 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.
Product R-spondin-4 isoform 1 precursor
Comment

Summary: This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.


##Evidence-Data-START## Transcript exon combination :: AK122609.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_001025042.2
CDS 101..805
Misc Feature(1)353..484
Misc Feature(2)356..478
Exon (1)1..179
Gene:RSPO4
Gene Synonym:C20orf182; CRISTIN4
Exon (2)180..368
Gene:RSPO4
Gene Synonym:C20orf182; CRISTIN4
Exon (3)369..509
Gene:RSPO4
Gene Synonym:C20orf182; CRISTIN4
Exon (4)510..695
Gene:RSPO4
Gene Synonym:C20orf182; CRISTIN4
Exon (5)696..2710
Gene:RSPO4
Gene Synonym:C20orf182; CRISTIN4
Translation MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEENGCSTCQQRLFLFIRR EGIRQYGKCLHDCPPGYFGIRGQEVNRCKKCGATCESCFSQDFCIRCKRQFYLYKGKCLP TCPPGTLAHQNTRECQGECELGPWGGWSPCTHNGKTCGSAWGLESRVREAGRAGHEEAAT CQVLSESRKCPIQRPCPGERSPGQKKGRKDRRPRKDRKLDRRLDVRPRQPGLQP
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Position Chain Variation Link
complement(13)-dbSNP:
complement(13)-g, cdbSNP:112044127
complement(16)-g, adbSNP:6056520
complement(112)-t, gdbSNP:150446609
complement(140)-c, adbSNP:200584918
complement(142)-g, adbSNP:6086831
complement(194)-dbSNP:
complement(194)-t, cdbSNP:199528639
complement(229)-t, cdbSNP:201142150
complement(245)-t, gdbSNP:201933377
complement(272)-t, cdbSNP:200792773
complement(275)-g, adbSNP:199844911
complement(294)-g, adbSNP:74315420
complement(318)-g, adbSNP:74315423
complement(334)-g, adbSNP:148789929
complement(344)-c, adbSNP:201062485
complement(416)-dbSNP:
complement(416)-g, adbSNP:202132004
complement(417)-t, cdbSNP:6140807
complement(419)-t, cdbSNP:74315421
complement(453)-g, adbSNP:74315422
complement(459)-g, adbSNP:200597556
complement(460)-g, adbSNP:199861662
complement(467)-g, cdbSNP:201485021
complement(469)-t, cdbSNP:184279006
complement(472)-t, cdbSNP:77472961
complement(477)-g, adbSNP:201112120
complement(497)-g, adbSNP:200568022
complement(535)-dbSNP:
complement(535)-g, adbSNP:201319898
complement(555)-t, gdbSNP:191521473
complement(571)-g, adbSNP:41275604
complement(597)-t, cdbSNP:201621545
complement(605)-t, cdbSNP:147416132
complement(624)-t, gdbSNP:61740632
complement(628)-t, cdbSNP:199601701
complement(671)-g, adbSNP:138935370
complement(734)-dbSNP:
complement(734)-g, adbSNP:202178299
complement(780)-g, adbSNP:201162335
complement(807)-g, adbSNP:113093200
complement(847)-g, adbSNP:6118370
complement(992)-g, adbSNP:34773751
complement(1139)-g, adbSNP:76811155
complement(1168)-t, cdbSNP:184811687
complement(1174)-g, adbSNP:192551017
complement(1291)-t, cdbSNP:519478
complement(1298)-t, gdbSNP:140578124
complement(1389)-c, adbSNP:147214985
complement(1568)-g, adbSNP:149543960
complement(1573)-g, adbSNP:187647199
complement(1593)-g, adbSNP:13037150
complement(1599)-g, cdbSNP:516714
complement(1628)-g, cdbSNP:138721103
complement(1687)-t, cdbSNP:182220957
complement(1694)-t, cdbSNP:62187523
complement(1847)-g, adbSNP:509384
complement(1907)-g, adbSNP:150625916
complement(1928)-t, cdbSNP:190629434
complement(1941)-t, gdbSNP:79127824
complement(1969..1970)-, gadbSNP:200388392
complement(1983)-t, gdbSNP:76535756
complement(1991)-g, adbSNP:6108208
complement(2003)-g, adbSNP:62187522
complement(2008)-t, cdbSNP:62187521
complement(2027)-t, gdbSNP:62187520
complement(2035)-g, cdbSNP:6118367
complement(2049)-t, gdbSNP:62187519
complement(2069)-g, adbSNP:62187518
complement(2074)-t, cdbSNP:62187517
complement(2080)-g, cdbSNP:58158356
complement(2102)-c, adbSNP:34935852
complement(2133)-g, adbSNP:188433140
complement(2140)-t, cdbSNP:13043975
complement(2205)-t, cdbSNP:944117
complement(2209)-t, cdbSNP:734940
complement(2232)-g, cdbSNP:3746813
complement(2265)-g, adbSNP:182992578
complement(2282)-t, cdbSNP:944116
complement(2324)-t, gdbSNP:115673250
complement(2429)-t, cdbSNP:191999547
complement(2511)-g, cdbSNP:3746812
complement(2513)-t, gdbSNP:3746811
complement(2514..2515)-, gadbSNP:3833342
complement(2514)-, agdbSNP:58319408
complement(2517..2518)-, gdbSNP:200839031
complement(2544)-g, adbSNP:80086411
complement(2639)-g, adbSNP:486347
complement(2644)-g, adbSNP:486344
complement(2675)-t, adbSNP:480012
complement(2699)-c, adbSNP:140655878
Gene SymbolRSPO4
Gene SynonymC20orf182; CRISTIN4
Chromosome20
Locus Map20p13
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001029871 Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA. Full Length $790.25
ORF Sequence $204.45
NM_001040007 Homo sapiens R-spondin 4 (RSPO4), transcript variant 2, mRNA. Full Length $736.31
ORF Sequence $159.00
Title Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I) .
Author Khan,T.N., Klar,J., Nawaz,S., Jameel,M., Tariq,M., Malik,N.A., Baig,S.M. and Dahl,N.
Journal BMC Med. Genet. 13, 120 (2012)
Title RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4 .
Author Bruchle,N.O., Frank,J., Frank,V., Senderek,J., Akar,A., Koc,E., Rigopoulos,D., van Steensel,M., Zerres,K. and Bergmann,C.
Journal J. Invest. Dermatol. 128 (4), 791-796 (2008)
Title Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia .
Author Ishii,Y., Wajid,M., Bazzi,H., Fantauzzo,K.A., Barber,A.G., Blaydon,D.C., Nam,J.S., Yoon,J.K., Kelsell,D.P. and Christiano,A.M.
Journal J. Invest. Dermatol. 128 (4), 867-870 (2008)
Title A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family .
Author Chishti,M.S., Kausar,N., Rafiq,M.A., Amin,M. and Ahmad,W.
Journal Br. J. Dermatol. 158 (3), 621-623 (2008)
Title Congenital hyponychia without RSPO4 mutation .
Author Nakamura,M. and Miyachi,Y.
Journal Acta Derm. Venereol. 88 (5), 511-512 (2008)
Title The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects .
Author Seitz,C.S., van Steensel,M., Frank,J., Senderek,J., Zerres,K., Hamm,H. and Bergmann,C.
Journal Br. J. Dermatol. 157 (4), 801-802 (2007)
Title Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia .
Author Bergmann,C., Senderek,J., Anhuf,D., Thiel,C.T., Ekici,A.B., Poblete-Gutierrez,P., van Steensel,M., Seelow,D., Nurnberg,G., Schild,H.H., Nurnberg,P., Reis,A., Frank,J. and Zerres,K.
Journal Am. J. Hum. Genet. 79 (6), 1105-1109 (2006)
Title The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia .
Author Blaydon,D.C., Ishii,Y., O'Toole,E.A., Unsworth,H.C., Teh,M.T., Ruschendorf,F., Sinclair,C., Hopsu-Havu,V.K., Tidman,N., Moss,C., Watson,R., de Berker,D., Wajid,M., Christiano,A.M. and Kelsell,D.P.
Journal Nat. Genet. 38 (11), 1245-1247 (2006)
Title R-Spondin proteins: a novel link to beta-catenin activation .
Author Kim,K.A., Zhao,J., Andarmani,S., Kakitani,M., Oshima,T., Binnerts,M.E., Abo,A., Tomizuka,K. and Funk,W.D.
Journal Cell Cycle 5 (1), 23-26 (2006)

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