FREM1 (FRAS1 related extracellular matrix 1)

2014-11-01  

Identity

HGNC
FREM1
LOCATION
9p22.3
LOCUSID
158326
ALIAS
BNAR,C9orf143,C9orf145,C9orf154,MOTA,TILRR,TRIGNO2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 158326
MIM: 608944
HGNC: 23399
Ensembl: ENSG00000164946

Variants:

dbSNP: 158326
ClinVar: 158326
TCGA: ENSG00000164946
COSMIC: FREM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164946ENST00000380875F8WE85
ENSG00000164946ENST00000380880Q5H8C1
ENSG00000164946ENST00000380894Q5H8C1
ENSG00000164946ENST00000422223Q5H8C1
ENSG00000164946ENST00000427623Q5H8C1

Expression (GTEx)

0
5
10
15
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198935842010Identification of 15 loci influencing height in a Korean population.41
247008792014Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.32
197328622009FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.28
219315692011Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.26
215078922011Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.20
284414562017Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2.20
199401132010TILRR, a novel IL-1RI co-receptor, potentiates MyD88 recruitment to control Ras-dependent amplification of NF-kappaB.16
229158132012A genetic polymorphism of FREM1 is associated with resistance against HIV infection in the Pumwani sex worker cohort.12
232218052013Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.11

Citation

Dessen P

FREM1 (FRAS1 related extracellular matrix 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63584/frem1