Gene: FREM2

Alternate names for this Gene: CRYPTOP|FRASRS2

Gene Summary: 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q13.3

Description of this Gene: FRAS1 related extracellular matrix 2

Type of Gene: protein-coding

rs114837786 in FREM2 gene and Cryptophthalmos, Unilateral or Bilateral, Isolated PMID 30802441 2019 Loss-of-function mutations in FREM2 disrupt eye morphogenesis.

PMID 29688405 2018 A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

rs114837786 in FREM2 gene and FRASER SYNDROME 2 PMID 15838507 2005 Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

PMID 29688405 2018 A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

PMID 30802441 2019 Loss-of-function mutations in FREM2 disrupt eye morphogenesis.

rs9603422 in FREM2 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs2442360 in FREM2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs863223346 in FREM2 gene and Schizophrenia, Childhood PMID 26508570 2016 De novo variants in sporadic cases of childhood onset schizophrenia.