PTPRF - protein tyrosine phosphatase receptor type F Gene

Homo sapiens

Also known as LAR; BNAH2

Gene ID: 5792 | Gene type: protein coding

About PTPRF

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:43,522,051-43,623,666 (from NCBI)

This gene has 16 transcripts (splice variants), 277 orthologues, 35 paralogues and is associated with 3 phenotypes. Broad expression in fat (RPKM 56.2), skin (RPKM 52.7) and 21 other tissues.

Summary

The protein encoded by this gene is a member of the protein tyrosine Phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of Insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

PTPRF Products(6)

mRNA	Protein	Name
NM_001329137.2	NP_001316066.1	receptor-type tyrosine-protein phosphatase F isoform 3 precursor
NM_001329138.2	NP_001316067.1	receptor-type tyrosine-protein phosphatase F isoform 4 precursor
NM_001329139.2	NP_001316068.1	receptor-type tyrosine-protein phosphatase F isoform 5 precursor
NM_001329140.2	NP_001316069.1	receptor-type tyrosine-protein phosphatase F isoform 6 precursor
NM_002840.5	NP_002831.2	receptor-type tyrosine-protein phosphatase F isoform 1 precursor
NM_130440.4	NP_569707.2	receptor-type tyrosine-protein phosphatase F isoform 2 precursor

PTPRF Protein Structure

I-set

fn3

Y_phosphatase

0
300
600
900
1200
1500
1800
1907 a.a.

Protein Preferred Names

Protein Names

receptor-type tyrosine-protein phosphatase F

LCA-homolog

Related Diseases

Diseases

Alias

Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2

BNAH2	Aplasia Or Hypoplasia Of The Breasts And/Or Nipples 2
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, Type 2

Isolated Congenital Breast Hypoplasia/Aplasia

Isolated Congenital Amastia

Ureterocele

Pheochromocytoma

Pheochromocytoma, Susceptibility To	Phaeochromocytoma
Adrenal Gland Chromaffin Paraganglioma	Adrenal Gland Chromaffinoma
Adrenal Gland Paraganglioma	Adrenal Gland Pheochromocytoma
Chromaffin Paraganglioma Of The Adrenal Gland	Intraadrenal Paraganglioma
PCC	Chromaffin Cell Tumor
Medullary Chromaffinoma	Medullary Paraganglioma
Pheochromoblastoma	Pheochromocytomas
Chromaffin Cell Neoplasm	Pheochromocytoma, Malignant

Van Maldergem Syndrome 1

Cerebrofacioarticular Syndrome	VMLDS1
Van Maldergem Syndrome	Cerebro-Facio-Articular Syndrome
Van Maldergem Wetzburger Verloes Syndrome

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

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-RS11438	PTPRF Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PTPRF	VGNC	VGNC:33550
Macaca mulatta	PTPRF	VGNC	VGNC:76615
Mus musculus	PTPRF	MGD	MGI:102695
Felis catus	PTPRF	VGNC	VGNC:69173
Rattus norvegicus	PTPRF	RGD	RGD:3453
Canis familiaris	PTPRF	VGNC	VGNC:45187
Others	PTPRF	NCBI

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