SH3PXD2B - SH3 and PX domains 2B Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 285590

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19755710	GOA

Biological Process GO Annotation	Evidence	References	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

PX

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

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 Set	/	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
Others	SH3PXD2B	NCBI