PEAK3 - PEAK family member 3 Gene

Also Known as C19orf35

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 374872

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
31311869 GOA
Biological Process GO Annotation Evidence References 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

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 Set / Unkown