2. Gene
  3. SH3PXD2B - SH3 and PX domains 2B Gene

SH3PXD2B - SH3 and PX domains 2B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：SH3 和 PX 结构域 2B

种属: Homo sapiens

同用名: FTHS; HOFI; TKS4; TSK4; FAD49; KIAA1295

基因 ID: 285590 | 基因类型: protein coding

关于 SH3PXD2B

Cytogenetic location: 5q35.1 Genomic coordinates (GRCh38): 5:172,325,181-172,454,525 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in gall bladder (RPKM 13.5), endometrium (RPKM 11.8) and 23 other tissues.

功能概要

该基因编码一个衔接蛋白，其特征是一个 PX 结构域和四个 Src 同源 3 结构域。编码的蛋白质是足体形成所必需的，并且参与多种细胞类型的细胞粘附和迁移。该基因的突变是导致 Frank-ter Haar 综合征 (FTHS) 和 Borrone 皮肤-心脏-骨骼 (BDCS) 综合征的原因。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2015 年 4 月]

This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

SH3PXD2B 基因产物(2)

mRNA Protein Name
NM_001017995.3 NP_001017995.1 SH3 and PX domain-containing protein 2B isoform a
NM_001308175.2 NP_001295104.1 SH3 and PX domain-containing protein 2B isoform b
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
19755710 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bone development IMP
IMP: 通过突变表型推断
20137777 GOA
involved in extracellular matrix disassembly IMP
IMP: 通过突变表型推断
19755710 GOA
involved in eye development IMP
IMP: 通过突变表型推断
20137777 GOA
involved in heart development IMP
IMP: 通过突变表型推断
20137777 GOA
involved in protein localization to membrane IDA
IDA: 通过直接分析推断
19755710 GOA
involved in skeletal system development IMP
IMP: 通过突变表型推断
20137777 GOA
involved in superoxide metabolic process IDA
IDA: 通过直接分析推断
19755710 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

SH3PXD2B 蛋白结构

PX

PX: PX domain (6 - 124)

SH3_1

SH3_1: SH3 domain (161 - 203)

SH3_1

SH3_1: SH3 domain (228 - 272)

SH3_1

SH3_1: SH3 domain (377 - 419)

SH3_2

SH3_2: Variant SH3 domain (855 - 909)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 911 a.a.
蛋白主名 其他名称

SH3 and PX domain-containing protein 2B

adapter protein HOFI

关联疾病

疾病名称 别名
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
Winchester Syndrome

WNCHRS

Winchester Disease

Winchester-Grossman Syndrome
Refractive Amblyopia

Ametropic Amblyopia
Pontocerebellar Hypoplasia, Type 9

Pontocerebellar Hypoplasia Type 9

PCH9

Pontocerebellar Hypoplasia 9

Hypoplasia, Pontocerebellar, Type 9
Megalocornea

Isolated Congenital Megalocornea

Congenital Anterior Megalophthalmia

Anterior Megalophthalmos

Mgc1

Mgcn

Congenital Keratoglobus
Intellectual Developmental Disorder, Autosomal Dominant 21

MRD21

Mental Retardation, Autosomal Dominant 21

Autosomal Dominant Non-Syndromic Intellectual Disability 21

Autosomal Dominant Intellectual Developmental Disorder 21

Autosomal Dominant Mental Retardation 21

Ctcf-Related Neurodevelopmental Disorder

Mental Retardation, Autosomal Dominant, Type 21
Tympanosclerosis

Ts - [Tympanosclerosis]

Tympanic Membrane Sclerosis
Tympanic Membrane Disease

Disorder Of Tympanic Membrane
Multicentric Carpotarsal Osteolysis Syndrome

Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy

MCTO

Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy

Idiopathic Multicentric Osteolysis With Or Without Nephropathy

Autosomal Dominant Multicentric Osteolysis

Hereditary Osteolysis Of Carpal Bones With Or Without Nephropathy

Multicentric Osteolysis, Autosomal Dominant

Multicentric Osteolysis Nephropathy

Osteolysis, Carpotarsal, Multicentric Syndrome

Lytic Lesion
Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3
Melnick-Needles Syndrome

MNS

Melnick-Needles Osteodysplasty

Osteodysplasty Of Melnick And Needles

Osteochondrodysplasias
Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12843 SH3PXD2B 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 SH3PXD2B VGNC VGNC:46131
Rattus norvegicus SH3PXD2B RGD RGD:1309926
Macaca mulatta SH3PXD2B VGNC VGNC:77332
Felis catus SH3PXD2B VGNC VGNC:102317
Mus musculus SH3PXD2B MGD MGI:2442062
Bos taurus SH3PXD2B VGNC VGNC:34578
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