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Protein Coding Gene : Mcfd2 multiple coagulation factor deficiency 2

Primary Identifier  MGI:2183439 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  193813
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable calcium ion binding activity. Predicted to be involved in protein transport and vesicle-mediated transport. Predicted to act upstream of or within carboxylic acid metabolic process. Predicted to be located in extracellular region. Is expressed in central nervous system; chondrocranium; jaw; pancreas epithelium; and retina. Orthologous to human MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit).
PHENOTYPE: Mice homozygous for a null allele exhibit decreased serum factor V and VIII and aspartate transaminase serum levels with accumulation of the proteins in the ER of hepatocytes. [provided by MGI curators]
  • synonyms:
  • 1810021C21Rik,
  • F5F8D,
  • MGI:1923602,
  • multiple coagulation factor deficiency 2,
  • RIKEN cDNA 1810021C21 gene,
  • LMAN1IP,
  • Mcfd2

Features --> Cross References

Genome

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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

9 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