GenTIGS

FRAS1 related extracellular matrix 2 (FREM2) Associated conditions: 1. Congenital diaphragmatic hernia 2. Fraser syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_207361.6	NP_997244.4	NC_000013.11	(38687076..38887130)	Reference GRCh38.p14 Primary Assembly	Q5SZK8
2	REVIEWED	XR_941571.3	-	NC_000013.11	(38687076..38887130)	Reference GRCh38.p14 Primary Assembly	Q5SZK8

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 137 reference articles

Variant Information FRAS1 related extracellular matrix 2 (FREM2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene FRAS1 related extracellular matrix 2 (FREM2)

ClinVar variants:Revealing mutagenic patterns

GO Term of FRAS1 related extracellular matrix 2 (FREM2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	involved_in	eye development	Process	29688405 30802441
2	Homo sapiens	IEA	involved_in	kidney development	Process	-
3	Homo sapiens	IEA	involved_in	morphogenesis of an epithelium	Process	-
4	Homo sapiens	IPI	enables	protein binding	Function	29688405
5	Homo sapiens	IEA	located_in	basement membrane	Component	-
6	Homo sapiens	IEA	located_in	plasma membrane	Component	-
7	Homo sapiens	IEA	involved_in	cell communication	Process	-
8	Homo sapiens	IMP	involved_in	cell adhesion	Process	29688405
9	Homo sapiens	IEA	involved_in	heart development	Process	-
10	Homo sapiens	IBA	involved_in	anatomical structure morphogenesis	Process	21873635
11	Homo sapiens	IEA	involved_in	embryonic digit morphogenesis	Process	-
12	Homo sapiens	IEA	enables	metal ion binding	Function	-
13	Homo sapiens	IEA	involved_in	inner ear development	Process	-
14	Homo sapiens	IBA	is_active_in	collagen-containing extracellular matrix	Component	21873635
15	Homo sapiens	HDA	located_in	extracellular exosome	Component	23533145