CCDC40

GENE INFORMATION

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Gene name

CCDC40 (HGNC Symbol)

Synonyms

CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640

Description

Coiled-coil domain containing 40 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Chromosome

17

Cytoband

q25.3

Chromosome location (bp)

80036632 - 80100613

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000141519 (version 78.38)

Entrez gene

55036

UniProt

Q4G0X9 (UniProt - Evidence at transcript level)

neXtProt

NX_Q4G0X9

Antibodypedia

CCDC40 antibodies
 

PROTEIN VIEW

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CCDC40-001
 
CCDC40-002
 
CCDC40-003
 
CCDC40-007
 
CCDC40-009
 
CCDC40-012
 
CCDC40-201
 
 
 
 
 

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)

CCDC40-001 ENSP00000380679
ENST00000397545
Q4G0X9
Show all »
Show » Show » 1142 130.1 No 0
CCDC40-002 ENSP00000269318
ENST00000269318
Q4G0X9
Show all »
Show » Show » 579 64 No 0
CCDC40-003 ENSP00000364010
ENST00000374876
Q4G0X9
Show all »
Show » Show » 478 52.3 No 0
CCDC40-007 ENSP00000460002
ENST00000574099
I3L2X6
Show all »
Show » 126 13.5 No 0
CCDC40-009 ENSP00000459489
ENST00000576033
I3L292
Show all »
Show » 99 10.7 No 0
CCDC40-012 ENSP00000461034
ENST00000571028
Show » 83 9.3 No 0
CCDC40-201 ENSP00000364011
ENST00000374877
J3QSY2
Show all »
Show » 1030 116.8 No 0