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GeneQ18055482· pop 5· linked from 103 articles

FREM2

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Also known as FRAS1 related extracellular matrix protein 2, FRASRS2, FRAS1 related extracellular matrix 2, CRYPTOP

FRAS1-related extracellular matrix protein 2 is a protein that in humans is encoded by the FREM2 gene.

Gene data

FREM2
Name
FRAS1 related extracellular matrix 2
Type
protein-coding
Position
38,687,070–38,887,131 (+)
Aliases
CRYPTOP, FRASRS2
Ensembl
ENSG00000150893
RefSeq RNA
NM_207361.6, XM_017020554.2, XM_054374491.1, XR_008488759.1, XR_941571.3
RefSeq protein
NP_997244.4, XP_016876043.1, XP_054230466.1

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014].

Gene Ontology

Molecular function

protein binding

Pathways

ECM-receptor interaction - Homo sapiens (human)Development of ureteric collection system

via MyGene.info

Gene · Ensembl

FRAS1 related extracellular matrix 2

Symbol
FREM2
Biotype
Protein coding
Organism
Homo sapiens
Location
13:38,687,070-38,887,131
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Show 8 more facts
HomoloGene ID
18454
found in taxon
Homo sapiens
exact match
identifiers.org/ncbigene/341640
chromosome
human chromosome 13
genomic start
38687077
genomic end
39460074
cytogenetic location
13q13.3
genetic association
Fraser syndrome
Sources (4)

via Wikidata · CC0

~1 min read

Encyclopedic overview

2 sections
Contents
  • References
  • Further reading

FRAS1-related extracellular matrix protein 2 is a protein that in humans is encoded by the FREM2 gene.

This gene encodes a membrane protein that belongs to the FRAS1 family. This extracellular matrix protein is thought to be required for maintaining the integrity of the skin epithelium and the differentiated state of renal epithelia. The protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions during morphogenetic processes. Mutations in this gene are associated with Fraser syndrome.

Excerpted from Wikipedia’s “FREM2” article, available under the CC BY-SA 4.0 licence.

Available in 5 languages

via Wikidata sitelinks · CC0