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Protein Coding Gene : Amer1 APC membrane recruitment 1

Primary Identifier  MGI:1919595 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  72345
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable beta-catenin binding activity; beta-catenin destruction complex binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Acts upstream of or within adipose tissue development; bone development; and mesenchymal cell differentiation involved in kidney development. Predicted to be located in nuclear body. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; epithelium; genitourinary system; and sensory organ. Used to study osteopathia striata with cranial sclerosis. Human ortholog(s) of this gene implicated in colorectal cancer and osteopathia striata with cranial sclerosis. Orthologous to human AMER1 (APC membrane recruitment protein 1).
PHENOTYPE: Male mice hemizygous for a null mutation display neonatal lethality with cardiac overgrowth, bone overgrowth, bilateral or unilateral renal agenesis coupled with renal overgrowth, adipocyte and spleen hypoplasia, and altered mesenchymal progenitor cell fate specification. [provided by MGI curators]
  • synonyms:
  • 2810002O09Rik,
  • Amer1,
  • AW492303,
  • family with sequence similarity 123, member B,
  • Fam123b,
  • MGI:2148012,
  • APC membrane recruitment 1,
  • Wtx,
  • expressed sequence AW492303,
  • RIKEN cDNA 2810002O09 gene

Features --> Cross References

Genome

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0 CDSs

0 Exons

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0 Involved In Mutations

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0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

6 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For