FREM2 (FRAS1 related extracellular matrix 2)

2012-08-01 Affiliation

Identity

HGNC

FREM2

LOCATION

13q13.3

LOCUSID

341640

ALIAS

CRYPTOP,FRASRS2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 341640
MIM: 608945
HGNC: 25396
Ensembl: ENSG00000150893

Variants:

dbSNP: 341640
ClinVar: 341640
TCGA: ENSG00000150893
COSMIC: FREM2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000150893	ENST00000280481	Q5SZK8

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35640836	2022	Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis.	0
35640836	2022	Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis.	0
32643034	2021	Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.	8
32643034	2021	Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.	8
30802441	2019	Loss-of-function mutations in FREM2 disrupt eye morphogenesis.	8
30802441	2019	Loss-of-function mutations in FREM2 disrupt eye morphogenesis.	8
29618029	2018	The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.	10
29688405	2018	A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.	7
29734672	2018	Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates.	9
29618029	2018	The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.	10
29688405	2018	A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.	7
29734672	2018	Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates.	9
24700879	2014	Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.	47
24700879	2014	Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.	47
21900877	2012	Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.	36

Citation

Dessen P

FREM2 (FRAS1 related extracellular matrix 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52844/css/lib/teaching-explorer/