TMEM260 (transmembrane protein 260)

2014-08-01  

Identity

HGNC
TMEM260
LOCATION
14q22.3
LOCUSID
54916
ALIAS
C14orf101,SHDRA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54916
MIM: 617449
HGNC: 20185
Ensembl: ENSG00000070269

Variants:

dbSNP: 54916
ClinVar: 54916
TCGA: ENSG00000070269
COSMIC: TMEM260

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070269ENST00000261556Q9NX78
ENSG00000070269ENST00000538838Q9NX78
ENSG00000070269ENST00000539559F5H7D0
ENSG00000070269ENST00000555046H0YJK2
ENSG00000070269ENST00000555497G3V4Y3
ENSG00000070269ENST00000555905H0YJX9
ENSG00000070269ENST00000556422G3V320
ENSG00000070269ENST00000556810G3V4A2
ENSG00000070269ENST00000556929H0YK00

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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383512372024Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.1
384094962024The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.0
383512372024Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.1
384094962024The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.0
371868662023The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.5
371868662023The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.5
346125172022Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.8
346125172022Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.8
283185002017Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.17
283185002017Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.17
248317722014A polymorphism at the microRNA binding site in the 3' untranslated region of C14orf101 is associated with non-Hodgkin lymphoma overall survival.10
248317722014A polymorphism at the microRNA binding site in the 3' untranslated region of C14orf101 is associated with non-Hodgkin lymphoma overall survival.10

Citation

Dessen P

TMEM260 (transmembrane protein 260)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54835/haematological-explorer/case-report-explorer/js/lib/zoomerang.js