2. Gene
  3. SH3PXD2A - SH3 and PX domains 2A Gene

SH3PXD2A - SH3 and PX domains 2A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as FISH; TKS5; SH3MD1

Gene ID: 9644 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16374509 GOA
Biological Process GO Annotation Evidence Reference Source
involved in osteoclast fusion IMP
IMP: Inferred from mutant phenotype
22584907 GOA
involved in superoxide metabolic process IDA
IDA: Inferred from direct assay
19755710 GOA
involved in superoxide metabolic process IMP
IMP: Inferred from mutant phenotype
20609497 GOA
Cellular Component GO Annotation Evidence Reference Source
located in podosome IDA
IDA: Inferred from direct assay
18417249 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

SH3PXD2A Protein Structure

PX

PX: PX domain (7 - 123)

SH3_1

SH3_1: SH3 domain (175 - 217)

SH3_1

SH3_1: SH3 domain (276 - 317)

SH3_1

SH3_1: SH3 domain (459 - 499)

SH3_1

SH3_1: SH3 domain (850 - 891)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1133 a.a.
Protein Preferred Names Protein Names

SH3 and PX domain-containing protein 2A

SH3 multiple domains 1

SH3PXD2A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SH3PXD2A Q5TCZ1 ADAM15 Homo sapiens Q13444
Filter Binding
16374509
Intra
SH3PXD2A Q5TCZ1 ADAM15 Homo sapiens Q13444
Phage Display
16374509
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SH3PXD2A Proteins

Cat. No. Product Name Accession Purity
HY-P71572 SH3PXD2A Protein, Human (Myc, His) Q5TCZ1 (902P-986P) ≥95%

Related Diseases

Diseases Alias
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
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-RS12842 SH3PXD2A Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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