FRMD5 (FERM domain containing 5)

2012-12-01  

Identity

HGNC
FRMD5
LOCATION
15q15.3
LOCUSID
84978
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84978
MIM: 616309
HGNC: 28214
Ensembl: ENSG00000171877

Variants:

dbSNP: 84978
ClinVar: 84978
TCGA: ENSG00000171877
COSMIC: FRMD5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171877ENST00000402883B5MC67
ENSG00000171877ENST00000417257Q7Z6J6
ENSG00000171877ENST00000421674F8WEJ8
ENSG00000171877ENST00000449926H0Y5N1
ENSG00000171877ENST00000451277F8WCI0
ENSG00000171877ENST00000458630H7C282
ENSG00000171877ENST00000484674H0YKW6
ENSG00000171877ENST00000558108H0YNI9
ENSG00000171877ENST00000618556A0A087WVP2
ENSG00000171877ENST00000636859A0A1B0GV18

Expression (GTEx)

0
5
10
15
20
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

References

Pubmed IDYearTitleCitations
362067442022De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.8
362067442022De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.8
342016072021Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma.4
342016072021Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma.4
305830722019C-terminal truncated HBx protein activates caveolin-1/LRP6/β-catenin/FRMD5 axis in promoting hepatocarcinogenesis.16
305830722019C-terminal truncated HBx protein activates caveolin-1/LRP6/β-catenin/FRMD5 axis in promoting hepatocarcinogenesis.16
281175512017Identification of FERM domain-containing protein 5 as a novel target of β-catenin/TCF7L2 complex.6
283326152017Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables.11
281175512017Identification of FERM domain-containing protein 5 as a novel target of β-catenin/TCF7L2 complex.6
283326152017Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables.11
254486752014FERM domain-containing protein FRMD5 regulates cell motility via binding to integrin β5 subunit and ROCK1.12
254486752014FERM domain-containing protein FRMD5 regulates cell motility via binding to integrin β5 subunit and ROCK1.12
228467082012FERM-containing protein FRMD5 is a p120-catenin interacting protein that regulates tumor progression.10
228467082012FERM-containing protein FRMD5 is a p120-catenin interacting protein that regulates tumor progression.10

Citation

Dessen P

FRMD5 (FERM domain containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53114/gene-fusions-explorer/css/meetings/