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FREM2 FRAS1 related extracellular matrix 2 [ Homo sapiens (human) ]

Gene ID: 341640, updated on 1-Jun-2020

Summary

Official Symbol
FREM2provided by HGNC
Official Full Name
FRAS1 related extracellular matrix 2provided by HGNC
Primary source
HGNC:HGNC:25396
See related
Ensembl:ENSG00000150893 MIM:608945
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRYPTOP; FRASRS2
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. [provided by RefSeq, Apr 2014]
Expression
Biased expression in kidney (RPKM 4.7), thyroid (RPKM 3.2) and 11 other tissues See more
Orthologs

Genomic context

See FREM2 in Genome Data Viewer
Location:
13q13.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (38687041..38887131)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (39261173..39461268)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 437 Neighboring gene Sharpr-MPRA regulatory region 5265 Neighboring gene peroxiredoxin 3 pseudogene 3 Neighboring gene RNA, U6 small nuclear 56, pseudogene Neighboring gene FREM2 antisense RNA 1 Neighboring gene phospholipase A2 group XIIA pseudogene 2 Neighboring gene ankyrin repeat domain 26 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cryptophthalmos, unilateral or bilateral, isolated
MedGen: C1852453 OMIM: 123570 GeneReviews: Not available
Compare labs
FRASER SYNDROME 2
MedGen: C4540036 OMIM: 617666 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781I048, DKFZp686J0811

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell communication IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development IEA
Inferred from Electronic Annotation
more info
 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basement membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
FRAS1-related extracellular matrix protein 2
Names
ECM3 homolog
FRAS1 related extracellular matrix protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008125.2 RefSeqGene

    Range
    5042..205096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_207361.6NP_997244.4  FRAS1-related extracellular matrix protein 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AL354819, BN000687, BX640686, CN291155, KF455770
    Consensus CDS
    CCDS31960.1
    UniProtKB/Swiss-Prot
    Q5SZK8
    Related
    ENSP00000280481.7, ENST00000280481.9
    Conserved Domains (2) summary
    pfam16184
    Location:14821623
    Cadherin_3; Cadherin-like
    cl02522
    Location:22492341
    Calx-beta; Calx-beta domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    38687041..38887131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020554.1XP_016876043.1  FRAS1-related extracellular matrix protein 2 isoform X1

RNA

  1. XR_941571.2 RNA Sequence

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