PEAK3 - PEAK family member 3 Gene

Homo sapiens

Also known as C19orf35

Gene ID: 374872 | Gene type: protein coding

About PEAK3

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:2,274,631-2,282,175 (from NCBI)

This gene has 1 transcript (splice variant), 52 orthologues and 3 paralogues. Low expression observed in reference dataset.

Summary

Enables protein self-association. Involved in regulation of actin Cytoskeleton organization and regulation of cell shape. Predicted to be active in actin Cytoskeleton and focal adhesion. [provided by Alliance of Genome Resources, Apr 2022]

PEAK3 Products(1)

mRNA	Protein	Name
NM_198532.3	NP_940934.1	protein PEAK3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	31311869	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	31311869	GOA
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	31311869	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

Protein Preferred Names

Protein Names

protein PEAK3

Related Diseases

Diseases

Alias

X-Linked Nephrolithiasis Type I

Nephrolithiasis 1	Nephrolithiasis X-Linked Recessive Type 1
Nphl1	X-Linked Nephrolithiasis With Renal Failure
X-Linked Recessive Urolithiasis Type 1	Xrn

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia	Bilateral Optic Nerve Hypoplasia
Optic Nerve Hypoplasia, Familial Bilateral	Familial Bilateral Optic Nerve Hypoplasia
Isolated Optic Nerve Hypoplasia/Aplasia	Optic Nerve Aplasia, Bilateral
Onh	BONH
Bilateral Optic Nerve Aplasia	Hypoplasia, Optic Nerve, Bilateral

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-RS10311	PEAK3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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