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Protein Coding Gene : Mbd5 methyl-CpG binding domain protein 5

Primary Identifier  MGI:2138934 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  109241
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable chromatin binding activity. Acts upstream of or within glucose homeostasis; positive regulation of growth hormone receptor signaling pathway; and regulation of growth. Predicted to be located in midbody and nucleoplasm. Predicted to be active in chromocenter and nucleus. Is expressed in several structures, including brain; liver; small intestine; spinal cord; and spleen. Used to study autosomal dominant intellectual developmental disorder. Human ortholog(s) of this gene implicated in autism spectrum disorder and autosomal dominant intellectual developmental disorder 1. Orthologous to human MBD5 (methyl-CpG binding domain protein 5).
PHENOTYPE: Mice homozgyous for a knock-out allele exhibit severe postnatal growth retardation leading to lethality by P22, decreased body, brain and liver weights, reduced IGF-I and GH levels, and abnormal glucose homeostasis. [provided by MGI curators]
  • synonyms:
  • AA536666,
  • RIKEN cDNA 9430004D19 gene,
  • AI426407,
  • RIKEN cDNA C030040A15 gene,
  • expressed sequence AI426407,
  • MGI:3705319,
  • Mbd5,
  • MGI:1924789,
  • OTTMUSG00000012483,
  • C030040A15Rik,
  • predicted gene, OTTMUSG00000012483,
  • expressed sequence AA536666,
  • methyl-CpG binding domain protein 5,
  • MGI:1924532,
  • 9430004D19Rik,
  • MGI:2138787

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Genome

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0 Canonical

0 CDSs

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1 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

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Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

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Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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