PTPN23 - protein tyrosine phosphatase non-receptor type 23 Gene

Homo sapiens

Also known as HDPTP; HD-PTP; NEDBASS; PTP-TD14

Gene ID: 25930 | Gene type: protein coding

About PTPN23

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:47,381,021-47,413,435 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues, 35 paralogues and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 10.2), brain (RPKM 9.8) and 25 other tissues.

Summary

This gene encodes a member of the non-receptor type protein-tyrosine Phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]

PTPN23 Products(2)

mRNA	Protein	Name
NM_001304482.2	NP_001291411.1	tyrosine-protein phosphatase non-receptor type 23 isoform 2
NM_015466.4	NP_056281.1	tyrosine-protein phosphatase non-receptor type 23 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	17174262	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	21724833	GOA
enables protein tyrosine phosphatase activity	IMP IMP: Inferred from mutant phenotype	21724833	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	20393563	GOA
involved in early endosome to late endosome transport	IMP IMP: Inferred from mutant phenotype	24821423	GOA
involved in endocytic recycling	IMP IMP: Inferred from mutant phenotype	24821423	GOA
involved in negative regulation of epithelial cell migration	IMP IMP: Inferred from mutant phenotype	21724833	GOA
involved in positive regulation of Wnt protein secretion	IMP IMP: Inferred from mutant phenotype	24821423	GOA
involved in positive regulation of adherens junction organization	IMP IMP: Inferred from mutant phenotype	21724833	GOA
involved in positive regulation of early endosome to late endosome transport	IMP IMP: Inferred from mutant phenotype	21724833	GOA
involved in positive regulation of homophilic cell adhesion	IMP IMP: Inferred from mutant phenotype	21724833	GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP IMP: Inferred from mutant phenotype	21757351	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in ciliary basal body	IDA IDA: Inferred from direct assay	20393563	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	21179510	GOA
located in early endosome	IDA IDA: Inferred from direct assay	21757351	GOA
located in endosome	IDA IDA: Inferred from direct assay	21179510	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21179510	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

PTPN23 Protein Structure

BRO1

ALIX_LYPXL_bnd

Y_phosphatase

0
300
600
900
1200
1500
1636 a.a.

Protein Preferred Names

Protein Names

tyrosine-protein phosphatase non-receptor type 23

his domain-containing protein tyrosine phosphatase

PTPN23 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PTPN23	Q9H3S7	PSMA3	Homo sapiens	P25788	Validated Y2H	25416956
Intra	PTPN23	Q9H3S7	PDCD6	Homo sapiens	O75340	Y2H	17174262
Intra	PTPN23	Q9H3S7	PTK2	Homo sapiens	Q05397	Protein Kinase Assay	18835089
Intra	PTPN23	Q9H3S7	PTK2	Homo sapiens	Q05397	Pull Down	18835089
Intra	PTPN23	Q9H3S7	PTK2	Homo sapiens	Q05397	Anti Bait CoIP	18835089
Intra	PTPN23	Q9H3S7	PTK2	Homo sapiens	Q05397	Fluorescence	18835089
Intra	PTPN23	Q9H3S7	TRIM27	Homo sapiens	P14373	Validated Y2H	25416956
Intra	PTPN23	Q9H3S7	GRAP2	Homo sapiens	O75791	Pull Down	21179510
Intra	PTPN23	Q9H3S7	GRAP2	Homo sapiens	O75791	Anti Bait CoIP	21179510
Intra	PTPN23	Q9H3S7	GRAP2	Homo sapiens	O75791	Y2H	21179510
Intra	PTPN23	Q9H3S7	CEP55	Homo sapiens	Q53EZ4	Validated Y2H	25416956
Intra	PTPN23	Q9H3S7	CEP55	Homo sapiens	Q53EZ4	Y2H Array	25416956
Intra	PTPN23	Q9H3S7	CHMP4B	Homo sapiens	Q9H444	Anti Tag CoIP	17174262
Intra	PTPN23	Q9H3S7	SH3GL2	Homo sapiens	Q99962	Anti Tag CoIP	17174262
Intra	PTPN23	Q9H3S7	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
Intra	PTPN23	Q9H3S7	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	31515488

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity

NEDBASS

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Toxic Diffuse Goiter

Spastic Paraplegia 80, Autosomal Dominant

SPG80	Hereditary Spastic Paraplegia 80
Spastic Paraplegia 80 Autosomal Dominant	Doid:0112341

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Variegate Porphyria

Porphyria Variegata	Protoporphyrinogen Oxidase Deficiency
VP	Ppox Deficiency
Porphyria, South African Type	Porphyria Variegata, Susceptibility To
Protocoproporphyria	Porphyria Variegate
Porphyria South African Type	Pv
Porphyria, Variegate	Vp - [Variegate Porphyria]

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS11425	PTPN23 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PTPN23	VGNC	VGNC:76477
Canis familiaris	PTPN23	VGNC	VGNC:54985
Felis catus	PTPN23	VGNC	VGNC:64431
Rattus norvegicus	PTPN23	RGD	RGD:619892
Bos taurus	PTPN23	VGNC	VGNC:33537
Mus musculus	PTPN23	MGD	MGI:2144837

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