TMEM67

GENERAL INFORMATION

? »

Gene name

TMEM67

Gene description

Transmembrane protein 67

Protein class

Disease related genes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins
Transporters

Predicted localization

Intracellular,Membrane,Secreted

Number of transcripts

8
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression with membranous expression in several tissues.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA039940
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

? »

Gene name

TMEM67 (HGNC Symbol)

Synonyms

JBTS6, MGC26979, MKS3, NPHP11

Description

Transmembrane protein 67 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]

Chromosome

8

Cytoband

q22.1

Chromosome location (bp)

93754844 - 93819234

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164953 (version 78.38)

Entrez gene

91147

UniProt

Q5HYA8 (UniProt - Evidence at protein level)

neXtProt

NX_Q5HYA8

Antibodypedia

TMEM67 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000409623
 
ENST00000452276
 
ENST00000453321
 
ENST00000453906
 
ENST00000498673
 
ENST00000518319
 
ENST00000520680
 
ENST00000521517
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TMEM67-001 ENSP00000389998
ENST00000453321
Q5HYA8
Show all »
Show » Show » 995 111.7 Yes 5
TMEM67-002 ENSP00000386966
ENST00000409623
Q5HYA8
Show all »
Show » Show » 914 103.6 No 5
TMEM67-003 ENSP00000388671
ENST00000452276
C9JRQ8
Show all »
Show » Show » 397 44.1 No 0
TMEM67-008 ENSP00000430232
ENST00000498673
Show » 6 0.6 No 0
TMEM67-012 ENSP00000403035
ENST00000453906
C9JHI2
Show all »
Show » Show » 180 19.5 Yes 0
TMEM67-015 ENSP00000430289
ENST00000518319
E5RG10
Show all »
Show » Show » 38 4.1 No 0
TMEM67-018 ENSP00000430740
ENST00000521517
Show » 173 18.5 Yes 0
TMEM67-019 ENSP00000428785
ENST00000520680
Show » Show » 239 26.5 No 2