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Protein Coding Gene : Frem1 Fras1 related extracellular matrix protein 1

Primary Identifier  MGI:2670972 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  329872
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable carbohydrate binding activity and metal ion binding activity. Acts upstream of or within cell-matrix adhesion. Located in basement membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skin. Used to study Fraser syndrome; chromosome 9p deletion syndrome; and congenital diaphragmatic hernia. Human ortholog(s) of this gene implicated in congenital diaphragmatic hernia. Orthologous to human FREM1 (FRAS1 related extracellular matrix 1).
PHENOTYPE: Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. [provided by MGI curators]
  • synonyms:
  • eye<m02Jus>,
  • MGI:3038384,
  • crf11,
  • MGI:2671571,
  • Fras1 related extracellular matrix protein 1,
  • BC037594,
  • cDNA sequence BC037594,
  • Frem1,
  • head blebs,
  • QBRICK,
  • MGD-MRK-10691,
  • eyes2,
  • heb,
  • MGI:96069,
  • eyes 2,
  • craniofacial 11

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

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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

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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0 Driver For