TMEM216 (transmembrane protein 216)

2014-11-01 Affiliation

Identity

HGNC

TMEM216

LOCATION

11q12.2

LOCUSID

51259

ALIAS

HSPC244

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 51259
MIM: 613277
HGNC: 25018
Ensembl: ENSG00000187049

Variants:

dbSNP: 51259
ClinVar: 51259
TCGA: ENSG00000187049
COSMIC: TMEM216

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000187049	ENST00000334888	Q9P0N5
ENSG00000187049	ENST00000398979	J3QT25
ENSG00000187049	ENST00000515837	Q9P0N5

Expression (GTEx)

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

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912

References

Pubmed ID	Year	Title	Citations
20512146	2010	Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.	116
21068128	2011	Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.	60
20036350	2010	Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.	27
22282472	2012	Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.	27

Citation

Dessen P

TMEM216 (transmembrane protein 216)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74882/tmem216