PHACTR2 - phosphatase and actin regulator 2 Gene

Also Known as C6orf56

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9749

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 Verweise 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

RPEL: RPEL repeat (61 - 84)

RPEL

RPEL: RPEL repeat (477 - 502)

RPEL

RPEL: RPEL repeat (516 - 539)

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  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS10403 PHACTR2 Human Pre-designed siRNA Set A Pre-designed Set / 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