SH3PXD2B - SH3 and PX domains 2B Gene

Homo sapiens

Also known as FTHS; HOFI; TKS4; TSK4; FAD49; KIAA1295

Gene ID: 285590 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19755710	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in bone development	IMP IMP: Inferred from mutant phenotype	20137777	GOA
involved in extracellular matrix disassembly	IMP IMP: Inferred from mutant phenotype	19755710	GOA
involved in eye development	IMP IMP: Inferred from mutant phenotype	20137777	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	20137777	GOA
involved in protein localization to membrane	IDA IDA: Inferred from direct assay	19755710	GOA
involved in skeletal system development	IMP IMP: Inferred from mutant phenotype	20137777	GOA
involved in superoxide metabolic process	IDA IDA: Inferred from direct assay	19755710	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SH3PXD2B Protein Structure

SH3_1

SH3_2

0
200
400
600
800
911 a.a.

Protein Preferred Names

Protein Names

SH3 and PX domain-containing protein 2B

adapter protein HOFI

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12843	SH3PXD2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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