TMEM67 (transmembrane protein 67)

2014-08-01 Affiliation

Identity

HGNC

TMEM67

LOCATION

8q22.1

LOCUSID

91147

ALIAS

JBTS6,MECKELIN,MKS3,NPHP11,TNEM67

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: 91147
MIM: 609884
HGNC: 28396
Ensembl: ENSG00000164953

Variants:

dbSNP: 91147
ClinVar: 91147
TCGA: ENSG00000164953
COSMIC: TMEM67

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000164953	ENST00000323130	A0A0C4DFP8
ENSG00000164953	ENST00000409623	Q5HYA8
ENSG00000164953	ENST00000452276	C9JRQ8
ENSG00000164953	ENST00000453321	Q5HYA8
ENSG00000164953	ENST00000453906	C9JHI2
ENSG00000164953	ENST00000455946	F8WCQ6
ENSG00000164953	ENST00000518319	E5RG10
ENSG00000164953	ENST00000520680	H0YB69
ENSG00000164953	ENST00000521065	H0YAR5
ENSG00000164953	ENST00000521222	E5RH38
ENSG00000164953	ENST00000521517	H0YC18

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
18327255	2008	Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.	183
17185389	2007	The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.	114
16415887	2006	The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.	104
17160906	2007	The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.	100
19515853	2009	Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.	69
21068128	2011	Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.	60
19508969	2009	Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).	58
19574260	2010	Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).	47
19058225	2009	MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.	43
17397051	2007	Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.	42

Citation

Dessen P

TMEM67 (transmembrane protein 67)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54715/tmem67