PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSTPIP2provided by HGNC
Official Full Name: proline-serine-threonine phosphatase interacting protein 2provided by HGNC
Primary source: HGNC:HGNC:9581
See related: Ensembl:ENSG00000152229 MIM:616046; AllianceGenome:HGNC:9581
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MAYP
Summary: Predicted to enable actin filament binding activity. Predicted to be involved in actin filament polymerization. Predicted to be located in cytoskeleton; cytosol; and membrane. Predicted to be active in actin filament; cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in bone marrow (RPKM 28.6), spleen (RPKM 27.4) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.1; tdb7990

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (45983536..46072260, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (46174497..46263221, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (43563502..43652226, complement)

Chromosome 18 - NC_000018.10 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?

PSTPIP2 is associated with disease severity in patients with pressure ulcer sepsis and has anti-inflammatory effects.
Title: PSTPIP2 is associated with disease severity in patients with pressure ulcer sepsis and has anti-inflammatory effects.
PSTPIP2 inhibits cisplatin-induced acute kidney injury by suppressing apoptosis of renal tubular epithelial cells.
Title: PSTPIP2 inhibits cisplatin-induced acute kidney injury by suppressing apoptosis of renal tubular epithelial cells.
Methylation on PSTPIP2 is associated with the development of anti-tuberculosis drug-induced liver injury.
Title: Genome-Wide Analysis of DNA Methylation and Antituberculosis Drug-Induced Liver Injury in the Han Chinese Population.
PSTPIP2 dysregulation contributes to aberrant terminal differentiation in GATA-1-deficient megakaryocytes by activating LYN.
Title: PSTPIP2 dysregulation contributes to aberrant terminal differentiation in GATA-1-deficient megakaryocytes by activating LYN.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFMB022XC9 (e-PCR)
- UniSTS:14604

STS-D29160 (e-PCR)
- UniSTS:41262

D8S2279 (e-PCR)
- UniSTS:473907

WI-3599 (e-PCR)
- UniSTS:63079

D10S16 (e-PCR)
- UniSTS:155756

RH66348 (e-PCR)
- UniSTS:31141

RH48786 (e-PCR)
- UniSTS:15029

A002Q33 (e-PCR)
- UniSTS:59610

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: proline-serine-threonine phosphatase-interacting protein 2

Names: PEST phosphatase-interacting protein 2

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.

mRNA and Protein(s)

NM_024430.4 → NP_077748.3 proline-serine-threonine phosphatase-interacting protein 2

See identical proteins and their annotated locations for NP_077748.3

Status: VALIDATED

Source sequence(s)

AC090355, BC035395, BP352927, DA943980

Consensus CDS

CCDS32820.2

UniProtKB/Swiss-Prot

Q9H939

UniProtKB/TrEMBL

A0A0S2Z4R2, A0A0S2Z505

Related

ENSP00000387261.4, ENST00000409746.5

Conserved Domains (1) summary

cd07672
Location:15 → 254

F-BAR_PSTPIP2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Proline-Serine-Threonine Phosphatase-Interacting Protein 2