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PTPN23 - protein tyrosine phosphatase non-receptor type 23 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25930

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	PTPN23	NCBI