AMER2 - APC membrane recruitment protein 2 Gene

Also Known as FAM123A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 219287

About AMER2

Cytogenetic location: 13q12.13 Genomic coordinates (GRCh38): 13:25,161,679-25,172,288 (from NCBI)

This gene has 2 transcripts (splice variants), 191 orthologues and 2 paralogues. Restricted expression toward brain (RPKM 25.9).

Summary

Enables phosphatidylinositol-4,5-bisphosphate binding activity. Involved in negative regulation of canonical Wnt signaling pathway. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

AMER2 Products (2)

mRNA Protein Name
NM_152704.4 NP_689917.2 APC membrane recruitment protein 2 isoform 1
NM_199138.2 NP_954589.1 APC membrane recruitment protein 2 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: Inferred from direct assay
22128170 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22128170 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
22128170 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
22128170 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

AMER2 Protein Structure

WTX

WTX: WTX protein (99 - 590)

  • 0
  • 200
  • 400
  • 600
  • 671 a.a.
Protein Preferred Names Protein Names

APC membrane recruitment protein 2

  • family with sequence similarity 123A

Related Diseases

Diseases Alias
Osteopathia Striata With Cranial Sclerosis

  • Hyperostosis Generalisata With Striations

  • Robinow-Unger Syndrome

  • OSCS

  • Osteopathia Striata Cranial Sclerosis

  • Osteopathia Striata-Cranial Sclerosis Syndrome

  • Horan-Beighton Syndrome

  • Os-Cs

  • Osteopathia Striata - Cranial Sclerosis

  • Voorhoeve Disease

  • Osc
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-RS00650 AMER2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus AMER2 RGD RGD:1559605
Macaca mulatta AMER2 VGNC VGNC:69707
Mus musculus AMER2 MGD MGI:1919375
Bos taurus AMER2 VGNC VGNC:106638
Felis catus AMER2 VGNC VGNC:102157
Others AMER2 NCBI