FAM114A2 (family with sequence similarity 114 member A2)

2021-06-01  

Identity

HGNC
FAM114A2
LOCATION
5q33.2
LOCUSID
10827
ALIAS
133K02,C5orf3

Other Information

Locus ID:

NCBI: 10827
HGNC: 1333
Ensembl: ENSG00000055147

Variants:

dbSNP: 10827
ClinVar: 10827
TCGA: ENSG00000055147
COSMIC: FAM114A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000055147ENST00000351797Q9NRY5
ENSG00000055147ENST00000351797A0A140VKG4
ENSG00000055147ENST00000517605E5RH43
ENSG00000055147ENST00000518102E5RHP2
ENSG00000055147ENST00000519808E5RHI8
ENSG00000055147ENST00000520313E7ESJ7
ENSG00000055147ENST00000520667Q9NRY5
ENSG00000055147ENST00000520667A0A140VKG4
ENSG00000055147ENST00000522395E5RGF9
ENSG00000055147ENST00000522634E5RK42
ENSG00000055147ENST00000522858Q9NRY5
ENSG00000055147ENST00000522858A0A140VKG4
ENSG00000055147ENST00000523705E5RFK2
ENSG00000055147ENST00000524246E5RIK7

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

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by BRAF and RAF fusionsREACTOMER-HSA-6802952

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
304684802018miR-497 promotes the progression of cutaneous squamous cell carcinoma through FAM114A2.10
304684802018miR-497 promotes the progression of cutaneous squamous cell carcinoma through FAM114A2.10

Citation

Dessen P

FAM114A2 (family with sequence similarity 114 member A2)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58222/fam114a2-(family-with-sequence-similarity-114-member-a2)