TMEM231

GENE INFORMATION

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Gene name

TMEM231 (HGNC Symbol)

Synonyms

ALYE870, FLJ22167, PRO1886

Description

Transmembrane protein 231 (HGNC Symbol)

Entrez gene summary

This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

Chromosome

16

Cytoband

q23.1

Chromosome location (bp)

75572015 - 75590184

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000205084 (version 75.37)

Entrez gene

79583

UniProt

Q9H6L2 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H6L2

Antibodypedia

TMEM231 antibodies
 

PROTEIN VIEW

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TMEM231-001
 
TMEM231-002
 
TMEM231-004
 
TMEM231-005
 
TMEM231-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TMEM231-001 ENSP00000258173
ENST00000258173
Q9H6L2
Show all »
Show » Show » 316 36.1 No 1
TMEM231-002 ENSP00000454582
ENST00000562410
H3BMW7
Show all »
Show » 106 12.2 No 0
TMEM231-004 ENSP00000457254
ENST00000565067
H3BTN6
Show all »
Show » 268 30.8 No 1
TMEM231-005 ENSP00000476267
ENST00000568377
B7Z5I3
Show all »
Show » 345 39.1 No 0
TMEM231-006 ENSP00000455520
ENST00000570006
H3BPY4
Show all »
Show » 193 21.9 No 0