1. Gene
  2. PTPRR - protein tyrosine phosphatase receptor type R Gene

PTPRR - protein tyrosine phosphatase receptor type R Gene

Homo sapiens

Also known as PTPRQ; EC-PTP; PCPTP1; PTP-SL; PTPBR7

Gene ID: 5801 | Gene type: protein coding

About PTPRR

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:70,638,073-70,920,738 (from NCBI)

This gene has 11 transcripts (splice variants), 198 orthologues and 35 paralogues. Biased expression in brain (RPKM 5.7), colon (RPKM 3.2) and 11 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 a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal Cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine Phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]

PTPRR Products(4)

mRNA Protein Name
NM_001207015.2 NP_001193944.1 receptor-type tyrosine-protein phosphatase R isoform 3
NM_001207016.1 NP_001193945.1 receptor-type tyrosine-protein phosphatase R isoform 4
NM_002849.4 NP_002840.2 receptor-type tyrosine-protein phosphatase R isoform 1 precursor
NM_130846.3 NP_570897.2 receptor-type tyrosine-protein phosphatase R isoform 2

PTPRR Protein Structure

Y_phosphatase

Y_phosphatase: Protein-tyrosine phosphatase (417 - 644)

  • 0
  • 200
  • 400
  • 600
  • 657 a.a.
Protein Preferred Names Protein Names

receptor-type tyrosine-protein phosphatase R

Ch-1 PTPase

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 84a

DFNB84A

Deafness, Autosomal Recessive 84

Autosomal Recessive Nonsyndromic Deafness 84a

Dfnb84

Deafness, Autosomal Recessive 84a, With Vestibular Dysfunction

Autosomal Recessive Deafness 84a

Autosomal Recessive Deafness 84a With Vestibular Dysfunction

Deafness, Autosomal Recessive, 84a

Deafness Autosomal Recessive 84

Deafness Autosomal Recessive 84a With Vestibular Dysfunction

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84

Deafness, Autosomal Recessive, Type 84a

Autosomal Recessive Nonsyndromic Deafness 70

Deafness, Autosomal Recessive 70

Autosomal Recessive Deafness 70

Dfnb70

Deafness, Autosomal Recessive, Type 70

Deafness, Autosomal Dominant 2a

DFNA2A

Autosomal Dominant Nonsyndromic Deafness 2a

Autosomal Dominant Deafness 2a

Deafness, Autosomal Dominant, 2a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a

Deafness, Autosomal Dominant, Type 2a

Deafness, Autosomal Dominant 50

DFNA50

Autosomal Dominant Nonsyndromic Deafness 50

Autosomal Dominant Deafness 50

Deafness, Autosomal Dominant, Type 50

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Normal Pressure Hydrocephalus

Low Pressure Hydrocephalus

Hydrocephalus Normal Pressure

Hydrocephalus, Normal Pressure

Normal Pressure Hydrocephalus Nos

Nph - [Normal Pressure Hydrocephalus]

Normal Pressure Hydrocephaly

Deafness, Autosomal Recessive 12

DFNB12

Deafness, Autosomal Recessive 12, Modifier Of

Autosomal Recessive Nonsyndromic Deafness 12

Autosomal Recessive Deafness 12

Deafness, Autosomal Recessive, 12

Congenital Neurosensory Deafness Autosomal Recessive 12

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

Deafness, Autosomal Recessive, Type 12

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

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
Macaca mulatta PTPRR VGNC VGNC:76621
Felis catus PTPRR VGNC VGNC:69180
Rattus norvegicus PTPRR RGD RGD:620780
Canis familiaris PTPRR VGNC VGNC:45197
Bos taurus PTPRR VGNC VGNC:33557
Mus musculus PTPRR MGD MGI:109559