PTPRVP protein tyrosine phosphatase receptor type V, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTPRVPprovided by HGNC
Official Full Name: protein tyrosine phosphatase receptor type V, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:13421
See related: Ensembl:ENSG00000293457 AllianceGenome:HGNC:13421
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ESP; PTPRV; OST-PTP
Summary: Predicted to enable protein tyrosine phosphatase activity. Predicted to act upstream of or within several processes, including DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; negative regulation of insulin secretion; and type B pancreatic cell proliferation. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis (RPKM 1.9), duodenum (RPKM 0.2) and 7 other tissues See more
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Genomic context

Location:: 1q32.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (202168051..202189449)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (201425621..201447021)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (202137179..202158577)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transgenic mice lacking protein tyrosine phosphatase OST-PTP are hypoglycemic and are protected from obesity and glucose intolerance because of an increase in islet beta-cell proliferation, insulin secretion, and insulin sensitivity.
Title: Endocrine regulation of energy metabolism by the skeleton.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

RH121205 (e-PCR)
- UniSTS:138315

SHGC-146598 (e-PCR)
- UniSTS:175315

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.