PAPSS2 - 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Gene

中文名称：3'-磷酸腺苷 5'-磷酸硫酸合酶 2

种属: Homo sapiens

同用名: SK2; BCYM4; ATPSK2

基因 ID: 9060 | 基因类型: protein coding

关于 PAPSS2

Cytogenetic location: 10q23.2-q23.31 Genomic coordinates (GRCh38): 10:87,659,878-87,747,705 (from NCBI)

This gene has 4 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in adrenal (RPKM 79.2), lung (RPKM 47.5) and 18 other tissues.

功能概要

硫酸化是内源性 (脂质、蛋白质和碳水化合物) 和外源性 (异生素和药物) 化合物的常见修饰。在哺乳动物中，硫酸盐来源是 3'-磷酸腺苷 5'-磷酸硫酸盐 (PAPS) ，由 ATP 和无机硫酸盐生成。由不同基因编码的两种不同组织亚型合成 PAPS。该基因编码两种 PAPS 合成酶中的一种。该基因的缺陷导致巴基斯坦型脊椎骨骺发育不良。已针对该基因描述了编码不同亚型的两种可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

Sulfation is a common modification of endogenous (lipids, proteins, and Carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

PAPSS2 基因产物(2)

mRNA	Protein	Name
NM_001015880.2	NP_001015880.1	bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform b
NM_004670.4	NP_004661.2	bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform a

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
involved in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process	IMP IMP: 通过突变表型推断	23824674	GOA
involved in hormone metabolic process	IMP IMP: 通过突变表型推断	19474428	GOA
involved in sulfate assimilation	IMP IMP: 通过突变表型推断	19474428	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

PAPSS2 蛋白结构

APS_kinase

PUA_2

ATP-sulfurylase

0
100
200
300
400
500
614 a.a.

蛋白主名

其他名称

bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2

3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2

PAPSS2 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
Intra	PAPSS2	O95340	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	PAPSS2	O95340	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	PAPSS2	O95340	PAPSS1	Homo sapiens	O43252	Anti Tag CoIP	33961781
Intra	PAPSS2	O95340	CEP19	Homo sapiens	Q96LK0	Y2H Array	32296183
Intra	PAPSS2	O95340	CEP19	Homo sapiens	Q96LK0	Y2H Prey Pooling	32296183
Intra	PAPSS2	O95340	CEP19	Homo sapiens	Q96LK0	Validated Y2H	32296183
Intra	PAPSS2	O95340	OPTN	Homo sapiens	Q96CV9	Validated Y2H	32814053
Intra	PAPSS2	O95340	OPTN	Homo sapiens	Q96CV9	Y2H Array	32814053
Intra	PAPSS2	O95340	OPTN	Homo sapiens	Q96CV9	Y2H Pooling	32814053

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

Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes

Spondyloepimetaphyseal Dysplasia, Pakistani Type	Spondyloepimetaphyseal Dysplasia, Papss2 Type
BCYM4	Semd, Pakistani Type
Spondylodysplasia And Premature Pubarche	Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes
Spondyloepimetaphyseal Dysplasia Pakistani Type	Semd Pakistani Type
Spondylometaepiphyseal Dysplasia Pakistani Type	Brachyolmia, Type 4, With Mild Epiphyseal And Metaphyseal Changes

Autosomal Recessive Brachyolmia

Brachyolmia, Hobaek/Toledo Type

Brachyolmia

Brachyrachia

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Achondrogenesis, Type Ib

ACG1B	Achondrogenesis Type Ib
Achondrogenesis Type 1b	Achondrogenesis Ib
Achondrogenesis Fraccaro Type	Achondrogenesis, Fraccaro Type
Achondrogenesis, Parenti-Fraccaro Type	Achondrogenesis 1b
Acg-Ib	Fraccaro Achondrogenesis

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Cortisone Reductase Deficiency

11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of	Cortrd
Hsd 11b1 Deficiency

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia	Chst3-Related Skeletal Dysplasia
Humerospinal Dysostosis	Spondyloepiphyseal Dysplasia, Omani Type
Chondrodysplasia With Multiple Dislocations	SEDCJD
Hsd	Cdmd
Humero-Spinal Dysostosis	Kozlowski Celermajer Tink Syndrome
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type	Larsen Syndrome, Recessive Type
Humero-Spinal Dysostosis With Congenital Heart Disease	Omani Type
Sed	Chst3 Deficiency
Chst3-Related Dysplasia	Recessive Larsen Syndrome
Autosomal Recessive Larsen Syndrome	Sed With Luxations, Chst3 Type
Sed, Omani Type	Sdcd, Chst3 Type
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type	Sed Omani Type
Spondyloepiphyseal Dysplasia Omani Type	Larsen Syndrome, Autosomal Recessive
Mucopolysaccharidosis Iv	Spondyloepiphyseal Dysplasia, Congenita

Atelosteogenesis

Atelosteogenesis, Type 1

Klippel-Feil Syndrome 1

Brachydactyly

Larsen Syndrome

LRS	Larsen Syndrome, Dominant Type
Dominant Larsen Syndrome	Autosomal Dominant Larsen Syndrome
Larsens Syndrome

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-RS10031	PAPSS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	PAPSS2	VGNC	VGNC:49936
Mus musculus	PAPSS2	MGD	MGI:1330223
Bos taurus	PAPSS2	VGNC	VGNC:32574
Rattus norvegicus	PAPSS2	RGD	RGD:1307012
Felis catus	PAPSS2	VGNC	VGNC:68694
Macaca mulatta	PAPSS2	VGNC	VGNC:75758

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PAPSS2 - 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Gene

关于 PAPSS2

功能概要

PAPSS2 基因产物(2)

PAPSS2 蛋白结构

PAPSS2 蛋白互作信息

关联疾病

直系同源

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PAPSS2 - 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Gene

关于 PAPSS2

功能概要

PAPSS2 基因产物(2)

PAPSS2 蛋白结构

PAPSS2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z