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RSPO4 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol RSPO4
Entrez Gene ID 343637
Full Name R-spondin 4
Synonyms C20orf182,CRISTIN4
General protein information
Preferred Names

R-spondin 4

Names

R-spondin-4
R-spondin family, member 4
hRspo4
roof plate-specific spondin-4

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

20

20p13

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].
Disorder MIM:

610573

Disorder Html: Anonychia congenita, 206800 (3)

mRNA and Protein(s)

mRNA Protein Name
XM_017027839.1 XP_016883328.1 R-spondin-4 isoform X1
NM_001029871.3 NP_001025042.2 R-spondin-4 isoform 1 precursor
NM_001040007.2 NP_001035096.1 R-spondin-4 isoform 2 precursor



Gallus gallus (chicken) RSPO4 XP_004947198.1
Homo sapiens (human) RSPO4 NP_001025042.2
Canis lupus familiaris (dog) RSPO4 XP_542937.3
Mus musculus (house mouse) Rspo4 NP_001035779.1
Pan troglodytes (chimpanzee) RSPO4 XP_525242.3
Bos taurus (cattle) RSPO4 XP_002692324.1
Danio rerio (zebrafish) LOC570865 XP_699482.3
Rattus norvegicus (Norway rat) Rspo4 XP_006235324.1


Related articles in PubMed

Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease.
Arenas E
Journal of molecular cell biology6(1)42-53(2014 Feb)

A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
Wasif N, Ahmad W
Pediatric dermatology30(1)139-41(2013 Jan-Feb)

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
Khan TN, Klar J, Nawaz S, Jameel M, Tariq M, Malik NA, Baig SM, Dahl N
BMC medical genetics13120(2012 Dec)

A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.
Chishti MS, Kausar N, Rafiq MA, Amin M, Ahmad W
The British journal of dermatology158(3)621-3(2008 Mar)

Congenital hyponychia without RSPO4 mutation.
Nakamura M, Miyachi Y
Acta dermato-venereologica88(5)511-2(2008)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A novel nonsense mutation in RSPO4 gene involves in the development of anonychia congenita.
Title: A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.

c.3G>A mutation is not sufficient to cause the congenital hyponychia and could be considered a polymorphism.
Title: Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

These findings expand our understanding of the role of RSPO4 in nail development and disease.
Title: Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.

The previously unknown mutations c.190C>T (p.Arg64Cys) in exon 2 and c.301C>T (p.Gln101X) in exon 3 were identified in RSPO4, thereby corroborating R-spondin 4 as the major protein in autosomal-recessive anonychia.
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.

identification of a missense mutation c.199G > C (p.Gly67Arg) in the RSPO4 gene in a large consanguineous Pakistani family with an autosomal recessive form of anonychia
Title: A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.

The following RSPO4 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the RSPO4 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu00129 NM_001040007.2
Latest version!
Homo sapiens R-spondin 4 (RSPO4), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00
OHu20587 NM_001029871.3
Latest version!
Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $139.30
$199.00
OHu93020 XM_017027839.1
Latest version!
Homo sapiens R-spondin 4 (RSPO4), transcript variant X1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 9-11 $139.30
$199.00

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2-4 Clone 40% OFF
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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu00129
Clone ID Related Accession (Same CDS sequence) NM_001040007.2
Accession Version NM_001040007.2 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 519bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-09-10
Organism Homo sapiens(Human)
Product R-spondin-4 isoform 2 precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DQ355152.1, AL050325.20 and BQ185331.1. On Sep 29, 2009 this sequence version replaced NM_001040007.1. Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DQ355152.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142363, SAMEA2147920 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
ATGCGGGCGC CACTCTGCCT GCTCCTGCTC GTCGCCCACG CCGTGGACAT GCTCGCCCTG 
AACCGAAGGA AGAAGCAAGT GGGCACTGGC CTGGGGGGCA ACTGCACAGG CTGTATCATC
TGCTCAGAGG AGAACGGCTG TTCCACCTGC CAGCAGAGGC TCTTCCTGTT CATCCGCCGG
GAAGGCATCC GCCAGTACGG CAAGTGCCTG CACGACTGTC CCCCTGGGTA CTTCGGCATC
CGCGGCCAGG AGGTCAACAG GTGCAAAAAA TGTGGGGCCA CTTGTGAGAG CTGCTTCAGC
CAGGACTTCT GCATCCGGTG CAAGAGGCAG TTTTACTTGT ACAAGGGGAA GTGTCTGCCC
ACCTGCCCGC CGGGCACTTT GGCCCACCAG AACACACGGG AGTGCCAGGA GAGGAGCCCC
GGCCAGAAGA AGGGCAGGAA GGACCGGCGC CCACGCAAGG ACAGGAAGCT GGACCGCAGG
CTGGACGTGA GGCCGCGCCA GCCCGGCCTG CAGCCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001035096.1
CDS101..619
Misc Feature(1)203..511
Misc Feature(2)353..484
Misc Feature(3)368..508
Exon (1)1..179
Exon (2)180..368
Exon (3)369..509
Exon (4)510..2524
Translation

Target ORF information:

RefSeq Version NM_001040007.2
Organism Homo sapiens(Human)
Definition Homo sapiens R-spondin 4 (RSPO4), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001040007.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
ATGCGGGCGC CACTCTGCCT GCTCCTGCTC GTCGCCCACG CCGTGGACAT GCTCGCCCTG 
AACCGAAGGA AGAAGCAAGT GGGCACTGGC CTGGGGGGCA ACTGCACAGG CTGTATCATC
TGCTCAGAGG AGAACGGCTG TTCCACCTGC CAGCAGAGGC TCTTCCTGTT CATCCGCCGG
GAAGGCATCC GCCAGTACGG CAAGTGCCTG CACGACTGTC CCCCTGGGTA CTTCGGCATC
CGCGGCCAGG AGGTCAACAG GTGCAAAAAA TGTGGGGCCA CTTGTGAGAG CTGCTTCAGC
CAGGACTTCT GCATCCGGTG CAAGAGGCAG TTTTACTTGT ACAAGGGGAA GTGTCTGCCC
ACCTGCCCGC CGGGCACTTT GGCCCACCAG AACACACGGG AGTGCCAGGA GAGGAGCCCC
GGCCAGAAGA AGGGCAGGAA GGACCGGCGC CCACGCAAGG ACAGGAAGCT GGACCGCAGG
CTGGACGTGA GGCCGCGCCA GCCCGGCCTG CAGCCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu20587
Clone ID Related Accession (Same CDS sequence) NM_001029871.3
Accession Version NM_001029871.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 705bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-09-10
Organism Homo sapiens(Human)
Product R-spondin-4 isoform 1 precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL050325.20, AK122609.1 and BQ185331.1. This sequence is a reference standard in the RefSeqGene project. On Sep 29, 2009 this sequence version replaced NM_001029871.2. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK122609.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142363, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
ATGCGGGCGC CACTCTGCCT GCTCCTGCTC GTCGCCCACG CCGTGGACAT GCTCGCCCTG 
AACCGAAGGA AGAAGCAAGT GGGCACTGGC CTGGGGGGCA ACTGCACAGG CTGTATCATC
TGCTCAGAGG AGAACGGCTG TTCCACCTGC CAGCAGAGGC TCTTCCTGTT CATCCGCCGG
GAAGGCATCC GCCAGTACGG CAAGTGCCTG CACGACTGTC CCCCTGGGTA CTTCGGCATC
CGCGGCCAGG AGGTCAACAG GTGCAAAAAA TGTGGGGCCA CTTGTGAGAG CTGCTTCAGC
CAGGACTTCT GCATCCGGTG CAAGAGGCAG TTTTACTTGT ACAAGGGGAA GTGTCTGCCC
ACCTGCCCGC CGGGCACTTT GGCCCACCAG AACACACGGG AGTGCCAGGG GGAGTGTGAA
CTGGGTCCCT GGGGCGGCTG GAGCCCCTGC ACACACAATG GAAAGACCTG CGGCTCGGCT
TGGGGCCTGG AGAGCCGGGT ACGAGAGGCT GGCCGGGCTG GGCATGAGGA GGCAGCCACC
TGCCAGGTGC TTTCTGAGTC AAGGAAATGT CCCATCCAGA GGCCCTGCCC AGGAGAGAGG
AGCCCCGGCC AGAAGAAGGG CAGGAAGGAC CGGCGCCCAC GCAAGGACAG GAAGCTGGAC
CGCAGGCTGG ACGTGAGGCC GCGCCAGCCC GGCCTGCAGC CCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001025042.2
CDS101..805
Misc Feature(1)203..514
Misc Feature(2)353..484
Misc Feature(3)368..508
Exon (1)1..179
Exon (2)180..368
Exon (3)369..509
Exon (4)510..695
Exon (5)696..2710
Translation

Target ORF information:

RefSeq Version NM_001029871.3
Organism Homo sapiens(Human)
Definition Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001029871.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
ATGCGGGCGC CACTCTGCCT GCTCCTGCTC GTCGCCCACG CCGTGGACAT GCTCGCCCTG 
AACCGAAGGA AGAAGCAAGT GGGCACTGGC CTGGGGGGCA ACTGCACAGG CTGTATCATC
TGCTCAGAGG AGAACGGCTG TTCCACCTGC CAGCAGAGGC TCTTCCTGTT CATCCGCCGG
GAAGGCATCC GCCAGTACGG CAAGTGCCTG CACGACTGTC CCCCTGGGTA CTTCGGCATC
CGCGGCCAGG AGGTCAACAG GTGCAAAAAA TGTGGGGCCA CTTGTGAGAG CTGCTTCAGC
CAGGACTTCT GCATCCGGTG CAAGAGGCAG TTTTACTTGT ACAAGGGGAA GTGTCTGCCC
ACCTGCCCGC CGGGCACTTT GGCCCACCAG AACACACGGG AGTGCCAGGG GGAGTGTGAA
CTGGGTCCCT GGGGCGGCTG GAGCCCCTGC ACACACAATG GAAAGACCTG CGGCTCGGCT
TGGGGCCTGG AGAGCCGGGT ACGAGAGGCT GGCCGGGCTG GGCATGAGGA GGCAGCCACC
TGCCAGGTGC TTTCTGAGTC AAGGAAATGT CCCATCCAGA GGCCCTGCCC AGGAGAGAGG
AGCCCCGGCC AGAAGAAGGG CAGGAAGGAC CGGCGCCCAC GCAAGGACAG GAAGCTGGAC
CGCAGGCTGG ACGTGAGGCC GCGCCAGCCC GGCCTGCAGC CCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu93020
Clone ID Related Accession (Same CDS sequence) XM_017027839.1
Accession Version XM_017027839.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 801bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-06-06
Organism Homo sapiens(Human)
Product R-spondin-4 isoform X1
Comment MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000020.11) annotated using gene prediction method: Gnomon. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.0 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

1
61
121
181
241
301
361
421
481
541
601
661
721
781
ATGCGGGCGC CACTCTGCCT GCTCCTGCTC GTCGCCCACG CCGTGGACAT GCTCGCCCTG 
AACCGAAGGA AGAAGCAAGT GGGCACTGGC CTGGGGGGCA ACTGCACAGG CTGTATCATC
TGCTCAGAGG AGAACGGCTG TTCCACCTGC CAGCAGAGGC TCTTCCTGTT CATCCGCCGG
GAAGGCATCC GCCAGTACGG CAAGTGCCTG CACGACTGTC CCCCTGGGTA CTTCGGCATC
CGCGGCCAGG AGGTCAACAG GTGCAAAAAA TGTGGGGCCA CTTGTGAGAG CTGCTTCAGC
CAGGACTTCT GCATCCGGTG CAAGAGGCAG TTTTACTTGT ACAAGGGGAA GTGTCTGCCC
ACCTGCCCGC CGGGCACTTT GGCCCACCAG AACACACGGG AGTGCCAGGG GGAGTGTGAA
CTGGGTCCCT GGGGCGGCTG GAGCCCCTGC ACACACAATG GAAAGACCTG CGGCTCGGCT
TGGGGCCTGG AGAGCCGGGT ACGAGAGGCT GGCCGGGCTG GGCATGAGGA GGCAGCCACC
TGCCAGGTGC TTTCTGAGTC AAGGAAATGT CCCATCCAGA GGCCCTGCCC AGGAGGTGAG
CCCCAGGACA GGCACACGAG GCTGCGGTGG GAAAGGCCCA CAGGGACAGG GCGGACTCAG
ATCACTGCCC CACAAATAGT ATCTATGAGA CTGCCTGAAA GGCCACCATT AGCCATACTA
TCATGTGGAG TACACATCAC CTTCCCTGGT GTCCTTTCAA AGGAGGGCCT TCCTTGCTGG
GTTCAGTCCC AAATACATTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq XP_016883328.1
CDS29..829
Translation

Target ORF information:

RefSeq Version XM_017027839.1
Organism Homo sapiens(Human)
Definition Homo sapiens R-spondin 4 (RSPO4), transcript variant X1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
XM_017027839.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
ATGCGGGCGC CACTCTGCCT GCTCCTGCTC GTCGCCCACG CCGTGGACAT GCTCGCCCTG 
AACCGAAGGA AGAAGCAAGT GGGCACTGGC CTGGGGGGCA ACTGCACAGG CTGTATCATC
TGCTCAGAGG AGAACGGCTG TTCCACCTGC CAGCAGAGGC TCTTCCTGTT CATCCGCCGG
GAAGGCATCC GCCAGTACGG CAAGTGCCTG CACGACTGTC CCCCTGGGTA CTTCGGCATC
CGCGGCCAGG AGGTCAACAG GTGCAAAAAA TGTGGGGCCA CTTGTGAGAG CTGCTTCAGC
CAGGACTTCT GCATCCGGTG CAAGAGGCAG TTTTACTTGT ACAAGGGGAA GTGTCTGCCC
ACCTGCCCGC CGGGCACTTT GGCCCACCAG AACACACGGG AGTGCCAGGG GGAGTGTGAA
CTGGGTCCCT GGGGCGGCTG GAGCCCCTGC ACACACAATG GAAAGACCTG CGGCTCGGCT
TGGGGCCTGG AGAGCCGGGT ACGAGAGGCT GGCCGGGCTG GGCATGAGGA GGCAGCCACC
TGCCAGGTGC TTTCTGAGTC AAGGAAATGT CCCATCCAGA GGCCCTGCCC AGGAGGTGAG
CCCCAGGACA GGCACACGAG GCTGCGGTGG GAAAGGCCCA CAGGGACAGG GCGGACTCAG
ATCACTGCCC CACAAATAGT ATCTATGAGA CTGCCTGAAA GGCCACCATT AGCCATACTA
TCATGTGGAG TACACATCAC CTTCCCTGGT GTCCTTTCAA AGGAGGGCCT TCCTTGCTGG
GTTCAGTCCC AAATACATTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease.
Journal of molecular cell biology6(1)42-53(2014 Feb)
Arenas E


book

A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
Pediatric dermatology30(1)139-41(2013 Jan-Feb)
Wasif N,Ahmad W


book

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
BMC medical genetics13120(2012 Dec)
Khan TN,Klar J,Nawaz S,Jameel M,Tariq M,Malik NA,Baig SM,Dahl N


book

A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.
The British journal of dermatology158(3)621-3(2008 Mar)
Chishti MS,Kausar N,Rafiq MA,Amin M,Ahmad W


book

Congenital hyponychia without RSPO4 mutation.
Acta dermato-venereologica88(5)511-2(2008)
Nakamura M,Miyachi Y


 
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