PIP4P2 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIP4P2provided by HGNC
Official Full Name: phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2provided by HGNC
Primary source: HGNC:HGNC:25452
See related: Ensembl:ENSG00000155099 MIM:609864; AllianceGenome:HGNC:25452
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: TMEM55A
Summary: TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 11.6), adrenal (RPKM 9.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (90993802..91040859, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (92118724..92165782, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (92006030..92053087, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

identification and characterization of two previously undescribed human enzymes, PtdIns-4,5-P(2) 4-phosphatase type I and type II
Title: The identification and characterization of two phosphatidylinositol-4,5-bisphosphate 4-phosphatases.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

D20S201 (e-PCR)
- UniSTS:71847

D8S1146 (e-PCR)
- UniSTS:71848

SHGC-36796 (e-PCR)
- UniSTS:5826

WI-16423 (e-PCR)
- UniSTS:62191

RH102431 (e-PCR)
- UniSTS:96765

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of phagocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in phagocytic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in phagocytic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase

Names: PtdIns-4,5-P(2) 4-phosphatase type II; ptdIns-4,5-P2 4-Ptase II; transmembrane protein 55A; type 2 PtdIns-4,5-P2 4-Ptase; type II PtdIns-4,5-P(2) 4-phosphatase; type II phosphatidylinositol 4,5-bisphosphate 4-phosphatase

NP_061180.1

EC 3.1.3.78

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.