1. Gene
  2. PTPRF - protein tyrosine phosphatase receptor type F Gene

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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables cell adhesion molecule binding IPI
IPI: Inferred from physical interaction
23986473 GOA
enables phosphoprotein phosphatase activity IDA
IDA: Inferred from direct assay
21976490 GOA
enables protein tyrosine phosphatase activity IDA
IDA: Inferred from direct assay
10338209 GOA
enables protein tyrosine phosphatase activity IMP
IMP: Inferred from mutant phenotype
23358419 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell migration IMP
IMP: Inferred from mutant phenotype
23358419 GOA
involved in negative regulation of receptor binding IMP
IMP: Inferred from mutant phenotype
23358419 GOA
involved in peptidyl-tyrosine dephosphorylation IMP
IMP: Inferred from mutant phenotype
23358419 GOA
involved in synaptic membrane adhesion IDA
IDA: Inferred from direct assay
26321637 GOA
involved in synaptic membrane adhesion IMP
IMP: Inferred from mutant phenotype
26321637 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

PTPRF Protein Structure

I-set

I-set: Immunoglobulin I-set domain (33 - 124)

I-set

I-set: Immunoglobulin I-set domain (135 - 216)

I-set

I-set: Immunoglobulin I-set domain (232 - 315)

fn3

fn3: Fibronectin type III domain (321 - 401)

fn3

fn3: Fibronectin type III domain (415 - 500)

fn3

fn3: Fibronectin type III domain (514 - 592)

fn3

fn3: Fibronectin type III domain (609 - 696)

fn3

fn3: Fibronectin type III domain (711 - 809)

fn3

fn3: Fibronectin type III domain (832 - 902)

fn3

fn3: Fibronectin type III domain (919 - 1000)

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (1375 - 1606)

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (1664 - 1897)

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  • 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

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