FAM136A (family with sequence similarity 136 member A)

2014-11-01  

Identity

HGNC
FAM136A
LOCATION
2p13.3
LOCUSID
84908
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84908
MIM: 616275
HGNC: 25911
Ensembl: ENSG00000035141

Variants:

dbSNP: 84908
ClinVar: 84908
TCGA: ENSG00000035141
COSMIC: FAM136A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000035141ENST00000037869Q96C01
ENSG00000035141ENST00000430566E7EQY1
ENSG00000035141ENST00000438759C9JF51
ENSG00000035141ENST00000450256C9J2Y4

Expression (GTEx)

0
10
20
30
40
50
60
70
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
253050782015Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
270838842016Genetics of vestibular disorders: pathophysiological insights.14

Citation

Dessen P

FAM136A (family with sequence similarity 136 member A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63026/fam136a