SH3PXD2A - SH3 and PX domains 2A Gene

中文名称：SH3 和 PX 域 2A

种属: Homo sapiens

同用名: FISH; TKS5; SH3MD1

基因 ID: 9644 | 基因类型: protein coding

关于 SH3PXD2A

Cytogenetic location: 10q24.33 Genomic coordinates (GRCh38): 10:103,594,027-103,855,576 (from NCBI)

This gene has 7 transcripts (splice variants), 263 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 4.2), ovary (RPKM 3.4) and 25 other tissues.

功能概要

预计会启用产生超氧化物的 NADPH 氧化酶激活剂活性。参与破骨细胞融合和超氧化物代谢过程。位于足体。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable superoxide-generating NADPH Oxidase activator activity. Involved in osteoclast fusion and superoxide metabolic process. Located in podosome. [provided by Alliance of Genome Resources, Apr 2022]

SH3PXD2A 基因产物(11)

mRNA	Protein	Name
NM_001365079.1	NP_001352008.1	SH3 and PX domain-containing protein 2A isoform 2
NM_001394015.1	NP_001380944.1	SH3 and PX domain-containing protein 2A isoform 3
NM_001394016.1	NP_001380945.1	SH3 and PX domain-containing protein 2A isoform 4
NM_001394017.1	NP_001380946.1	SH3 and PX domain-containing protein 2A isoform 5
NM_001394018.1	NP_001380947.1	SH3 and PX domain-containing protein 2A isoform 6
NM_001394019.1	NP_001380948.1	SH3 and PX domain-containing protein 2A isoform 7
NM_001394020.1	NP_001380949.1	SH3 and PX domain-containing protein 2A isoform 8
NM_001394021.1	NP_001380950.1	SH3 and PX domain-containing protein 2A isoform 9
NM_001394022.1	NP_001380951.1	SH3 and PX domain-containing protein 2A isoform 10
NM_001394023.1	NP_001380952.1	SH3 and PX domain-containing protein 2A isoform 10
NM_014631.3	NP_055446.2	SH3 and PX domain-containing protein 2A isoform 1

基因本体论

分子功能
生物过程
细胞组分

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	16374509	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in osteoclast fusion	IMP IMP: 通过突变表型推断	22584907	GOA
involved in superoxide metabolic process	IDA IDA: 通过直接分析推断	19755710	GOA
involved in superoxide metabolic process	IMP IMP: 通过突变表型推断	20609497	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in podosome	IDA IDA: 通过直接分析推断	18417249	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

SH3PXD2A 蛋白结构

SH3_1

0
200
400
600
800
1000
1133 a.a.

蛋白主名

其他名称

SH3 and PX domain-containing protein 2A

SH3 multiple domains 1

SH3PXD2A 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	SH3PXD2A	Q5TCZ1	ADAM15	Homo sapiens	Q13444	Filter Binding	16374509
种属内	SH3PXD2A	Q5TCZ1	ADAM15	Homo sapiens	Q13444	Phage Display	16374509

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SH3PXD2A 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71572	SH3PXD2A Protein, Human (Myc, His)	Q5TCZ1 (902P-986P)	≥95%

关联疾病

疾病名称

别名

Malignant Triton Tumor

Malignant Peripheral Nerve Sheath Neoplasm With Rhabdomyosarcoma	Malignant Triton Tumour
Mpnst With Rhabdomyoblastic Differentiation	Mpnst With Rhabdomyosarcoma
Mpnst With Rhabdomyosarcomatous Differentiation	Mtt
Malignant Peripheral Nerve Sheath Tumor With Rhabdomyosarcomatous Differenciation	Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation

Malignant Peripheral Nerve Sheath Tumor With Perineurial Differentiation

Malignant Perineurioma

Perineurioma, Malignant

Frank-Ter Haar Syndrome

Ter Haar Syndrome	Borrone Dermatocardioskeletal Syndrome
FTHS	Autosomal Recessive Melnick-Needles Syndrome
Borrone Di Rocco Crovato Syndrome	Megalocornea, Multiple Skeletal Anomalies, And Developmental Delay
Melnick-Needles Syndrome, Autosomal Recessive, Formerly	Frank Ter Haar Syndrome

Otopalatodigital Syndrome Spectrum Disorder

Opd Spectrum Disorder	Opsd
Fronto-Otopalatodigital Osteodysplasia

Mandibular Cancer

Mandibular Neoplasms	Malignant Neoplasm Of Inferior Maxilla
Malignant Neoplasm Of Lower Jaw Bone	Malignant Neoplasm Of Mandible
Mandible Cancer	Mandibular Neoplasm
Neoplasm Of Mandible

Neurilemmomatosis

Schwannomatosis	Neurofibromatosis Type 3
Nf3	Neurilemmomatosis Congenital Cutaneous
Neurinomatosis	Congenital Cutaneous Neurilemmomatosis
Multiple Neurilemmomas	Multiple Schwannomas
Neurilemmomatosis, Congenital Cutaneous	Schwannomatosis 1
Neurofibromatosis 3	Mixed Central And Peripheral Neurofibromatosis
Nf3 - [Neurofibromatosis Type 3]

Meningioma, Familial

Meningioma	Familial Meningioma
Meningioma, Familial, Susceptibility To	Meningeal Neoplasm
Meningeal Neoplasms	Meningiomas
Meningioma, Nf2-Related, Somatic	Meningioma, Sis-Related
Meningothelial Cell Tumor	Neoplasm Of The Meninges
Primary Meningeal Tumor	Familial Multiple Meningioma
MNGMA	Meningioma, Benign, No Icd-O Subtype
Intracranial Meningioma	Meningothelial Cell Neoplasm
Supratentorial Meningioma	Primary Neoplasm Of Spinal Meninges
Benign Intracranial Meningioma	Benign Meningioma
Meningeal Tumours	Meningeal Sarcoma Of Unspecified Site
Meningothelial Sarcoma Of Unspecified Site

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-RS12842	SH3PXD2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	SH3PXD2A	VGNC	VGNC:77297
Felis catus	SH3PXD2A	VGNC	VGNC:65112
Bos taurus	SH3PXD2A	VGNC	VGNC:55967
Mus musculus	SH3PXD2A	MGD	MGI:1298393
Canis familiaris	SH3PXD2A	VGNC	VGNC:46130
Rattus norvegicus	SH3PXD2A	RGD	RGD:1311185
Others	SH3PXD2A	NCBI

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