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Protein Coding Gene : Slc39a8 solute carrier family 39 (metal ion transporter), member 8

Primary Identifier  MGI:1914797 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  67547
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables zinc:bicarbonate symporter activity. Involved in several processes, including bicarbonate transport; intracellular monoatomic cation homeostasis; and monoatomic cation transmembrane transport. Located in apical plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; genitourinary system; and sensory organ. Used to study left ventricular noncompaction. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIn. Orthologous to human SLC39A8 (solute carrier family 39 member 8).
PHENOTYPE: Mice homozygous for a null allele die by E16.5 showing body edema, cardiac hypertrabeculation, thin compact myocardium, left ventricular noncompaction, increased cardiomyocyte proliferation, extracellular matrix accumulation, lower zinc level, and ventricular septal defects. Homozygosity for the p.A393T mutation leads to lower brain zinc levels and lower cortex dendritic spine density. [provided by MGI curators]
  • synonyms:
  • ZIP8,
  • BIGM103,
  • expressed sequence AA986696,
  • 4933419D20Rik,
  • solute carrier family 39 (metal ion transporter), member 8,
  • Slc39a8,
  • AA986696,
  • MGI:2139613,
  • RIKEN cDNA 4933419D20 gene

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

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0 Transcripts

2 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

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