PHACTR2 - phosphatase and actin regulator 2 Gene

Homo sapiens

Also known as C6orf56

Gene ID: 9749 | Gene type: protein coding

About PHACTR2

Cytogenetic location: 6q24.2 Genomic coordinates (GRCh38): 6:143,536,878-143,831,185 (from NCBI)

This gene has 12 transcripts (splice variants), 225 orthologues and 3 paralogues. Broad expression in placenta (RPKM 29.1), adrenal (RPKM 11.9) and 22 other tissues.

Summary

Predicted to enable actin binding activity. Predicted to be involved in actin Cytoskeleton organization. Predicted to be located in plasma membrane and platelet alpha granule membrane. Implicated in Parkinson's disease and multiple sclerosis. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]

PHACTR2 Products(6)

mRNA	Protein	Name
NM_001100164.2	NP_001093634.1	phosphatase and actin regulator 2 isoform 1
NM_001100165.2	NP_001093635.1	phosphatase and actin regulator 2 isoform 2
NM_001100166.2	NP_001093636.1	phosphatase and actin regulator 2 isoform 4
NM_001394736.1	NP_001381665.1	phosphatase and actin regulator 2 isoform 5
NM_001394738.1	NP_001381667.1	phosphatase and actin regulator 2 isoform 6
NM_014721.3	NP_055536.2	phosphatase and actin regulator 2 isoform 3

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	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

PHACTR2 Protein Structure

RPEL

0
100
200
300
400
500
634 a.a.

Protein Preferred Names

Protein Names

phosphatase and actin regulator 2

Related Diseases

Diseases

Alias

Body Dysmorphic Disorder

Dysmorphophobia	Body Dysmorphia
Dysmorphic Syndrome	Body Dysmorphic Disorders

Lissencephaly 8

LIS8

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10403	PHACTR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PHACTR2	VGNC	VGNC:32805
Macaca mulatta	PHACTR2	VGNC	VGNC:75840
Rattus norvegicus	PHACTR2	RGD	RGD:1303141
Felis catus	PHACTR2	VGNC	VGNC:64129
Canis familiaris	PHACTR2	VGNC	VGNC:44473
Mus musculus	PHACTR2	MGD	MGI:2446138

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