RSPO4 - R-spondin 4 Gene

中文名称：R-spondin 4

种属: Homo sapiens

同用名: CRISTIN4; C20orf182

基因 ID: 343637 | 基因类型: protein coding

关于 RSPO4

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:958,452-1,002,311 (from NCBI)

This gene has 2 transcripts (splice variants), 169 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in lung (RPKM 1.4), testis (RPKM 0.6) and 7 other tissues.

功能概要

该基因编码 R-spondin 蛋白家族的一个成员，它们共享一个共同的结构域组织，由信号肽、富含半胱氨酸/弗林蛋白酶样结构域、血小板反应蛋白结构域和 C 末端碱性区域组成。编码的蛋白质可能参与 Wnt/β-连环蛋白信号通路的激活。该基因的突变与先天性无甲症有关。交替剪接导致多个转录变体。[RefSeq 提供，2009 年 9 月]

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]

RSPO4 基因产物(2)

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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within nail development	IMP IMP: 通过突变表型推断	17805348	GOA
involved in positive regulation of Wnt signaling pathway	IDA IDA: 通过直接分析推断	29769720	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

蛋白主名

其他名称

R-spondin-4

R-spondin family, member 4

RSPO4 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	RSPO4	Q2I0M5	PIH1D2	Homo sapiens	Q8WWB5	Validated Y2H	32296183
种属内	RSPO4	Q2I0M5	DHX57	Homo sapiens	Q6P158	Validated Y2H	32296183
种属内	RSPO4	Q2I0M5	DHX57	Homo sapiens	Q6P158	Y2H Array	32296183
种属内	RSPO4	Q2I0M5	GNG13	Homo sapiens	Q9P2W3	Validated Y2H	32296183
种属内	RSPO4	Q2I0M5	GUCD1	Homo sapiens	Q96NT3-2	Validated Y2H	32296183
种属内	RSPO4	Q2I0M5	ANKRD11	Homo sapiens	X5D778	Validated Y2H	32296183
种属内	RSPO4	Q2I0M5	GPSM3	Homo sapiens	Q9Y4H4	Validated Y2H	32296183
种属内	RSPO4	Q2I0M5	ZNF330	Homo sapiens	Q9Y3S2	Validated Y2H	32296183
种属内	RSPO4	Q2I0M5	KLHL38	Homo sapiens	Q2WGJ6	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Nail Disorder, Nonsyndromic Congenital, 4

Anonychia Congenita	Anonychia
Hyponychia Congenita	NDNC4
Anonychia/Hyponychia Congenita	Nonsyndromic Congenital Nail Disorder 4
Isolated Congenital Anonychia	Anonychia Congenita Totalis
Anonychia Totalis	Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4
Congenital Anonychia	Nonsyndromic Congenital Nail Disorder, 4
Absent Nails	Aplastic Nails
Congenital Absence Of Nails	Isolated Anonychia
Nail Disorder, Non-Syndromic Congenital, 4	Nail Disorder, Nonsyndromic, Congenital, Type 4

Nonsyndromic Congenital Nail Disorder

Nail Disorder, Nonsyndromic Congenital

Witkop Syndrome

Tooth And Nail Syndrome	Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome
Tns	Ectodermal Dysplasia 3, Witkop Type
ECTD3	Ectodermal Dysplasia 3, Tooth/Nail Type
Tooth-And-Nail Syndrome	Dysplasia Of Nails With Hypodontia
Nail Dysplasia With Hypodontia	Witkop'S Syndrome
Hypodontia - Dysplasia Of Nails	Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia-Nail Dysgenesis Syndrome	Hypodontia-Nail Dysgenesis

Tetraamelia Syndrome

Tetra-Amelia Syndrome	Tetraamelia-Multiple Malformations Syndrome
Tetra-Amelia	Tetra-Amelia, Autosomal Recessive
Tetraamelia, Autosomal Recessive	Total Amelia
Zimmer Phocomelia	Tetams
Zimmer Taub Sova Syndrome

Ocular Tuberculosis

Loose Anagen Hair Syndrome

Loose Anagen Syndrome

LAHS

Nail Disease

Nail Diseases	Abnormality Of The Nail
Nail Anomaly

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12308	RSPO4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	RSPO4	VGNC	VGNC:64799
Macaca mulatta	RSPO4	VGNC	VGNC:77023
Bos taurus	RSPO4	VGNC	VGNC:34190
Rattus norvegicus	RSPO4	RGD	RGD:1563415
Mus musculus	RSPO4	MGD	MGI:1924467
Canis familiaris	RSPO4	VGNC	VGNC:45784

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