SH3PXD2A - SH3 and PX domains 2A Gene

Also Known as FISH; TKS5; SH3MD1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9644

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 Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
16374509 GOA
Biological Process GO Annotation Evidence Références 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 Références 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)

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  • 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 Références
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. Nom du produit Accession Pureté
HY-P71572 SH3PXD2A Protein, Human (Myc, His) Q5TCZ1 (P902-P986) ≥ 90%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS12842 SH3PXD2A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22070 Sh3pxd2a Mouse Pre-designed siRNA Set A Pre-designed Set / 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