Frem1
Gene Detail

Symbol Name ID

Frem1 Fras1 related extracellular matrix protein 1 MGI:2670972

Synonyms

eye, eyes2, heb, QBRICK

Feature Type

protein coding gene

Genetic Map

Chromosome 4

39.40 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr4:82897927-83052339 bp, - strand From VEGA annotation of GRCm38   154413 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:27049  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Frem1

Human homologs

Human Homolog		FREM1, FRAS1 related extracellular matrix 1
NCBI Gene ID		158326
neXtProt AC		NX_Q5H8C1
Human Synonyms		BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2
Human Chr (Location)		9p22.3; chr9:14734664-14910993 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human FREM1

Alleles and phenotypes

All alleles(6) : Targeted(2) Spontaneous(1) Chemically induced(3)
 

Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis.

 
Human Diseases Modeled Using Mouse Frem1 (3)    Alleles Annotated to Human Diseases(5)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (11 annotations)

Process	cell adhesion, cell communication, ...
Component	basement membrane, extracellular region, ...
Function	carbohydrate binding, metal ion binding

External Resources: FuncBase

Expression

Literature Summary: (14 records)
Data Summary: Results (59)    Tissues (35)    Images (28)
Theiler Stages: 17, 19, 20, 21, 22, 23, 24, 26

Assay Type	Results
Immunohistochemistry	28
RNA in situ	29
RT-PCR	2

cDNA source data(31)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(34) cDNA(32) Primer pair(2)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000000404 (Evidence)
Ensembl Gene Model	ENSMUSG00000059049 (Evidence)
Entrez Gene	329872 (Evidence)
UniGene	242337
Consensus CDS Project	CCDS38791.1, CCDS57281.1
International Mouse Knockout Project Status	Frem1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000000404	VEGA Gene Model | MGI Sequence Detail	154413	C57BL/6J
transcript	OTTMUST00000000974	VEGA | MGI Sequence Detail	9690	Not Applicable
polypeptide	OTTMUSP00000000431	VEGA | MGI Sequence Detail	2172	Not Applicable

All sequences(43) RefSeq(4) UniProt(4)

Polymorphisms

SNPs(750 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001304	C-type lectin
InterPro	IPR016187	C-type lectin fold
InterPro	IPR016186	C-type lectin-like
InterPro	IPR003644	Na-Ca exchanger/integrin-beta4
Protein Ontology	PR:000007656	FRAS1-related extracellular matrix protein 1

References

(Earliest) J:64448 Varnum DS, et al., heb - head bleb. Mouse News Lett. 1976;55:16
(Latest) J:192553 Beck TF, et al., Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet. 2013 Mar 1;22(5):1026-38
All references(40)

Other accession IDs

MGD-MRK-10691, MGI:3038384, MGI:96069