|  Help  |  About  |  Contact Us

Protein Coding Gene : Heph hephaestin

Primary Identifier  MGI:1332240 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  15203
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable copper ion binding activity; ferrous iron binding activity; and ferroxidase activity. Acts upstream of or within erythrocyte differentiation. Predicted to be located in basolateral plasma membrane and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Orthologous to human HEPH (hephaestin).
PHENOTYPE: Hemizygous male and homozygous female mutants are small and pale at birth, exhibit a hypochromic anemia which tends to disappear with age. Mutants have impaired iron transport in the placenta and in the gut. [provided by MGI curators]
  • synonyms:
  • MGI:2445196,
  • mKIAA0698,
  • RIKEN cDNA C130006F04 gene,
  • Cpl,
  • Heph,
  • sla,
  • hephaestin,
  • sex linked anemia,
  • C130006F04Rik,
  • MGD-MRK-14436,
  • MGI:98315

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

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

5 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

 

Other

0 Driver For