CCDC40

GENERAL INFORMATION

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Gene name

CCDC40

Gene description

Coiled-coil domain containing 40

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (fallopian tube, testis)
GTEx:Tissue enhanced (testis)

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed moderate to strong cytoplasmic positivity. Liver, lymphoid tissues and neuronal cells were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 1 antibody.
HPA022974
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RNA AND PROTEIN EXPRESSION SUMMARY

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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

Bronchus

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (fallopian tube, testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (testis)

Organ

Expression



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 BROWSER

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ENST00000269318
 
ENST00000374876
 
ENST00000374877
 
ENST00000397545
 
ENST00000571028
 
ENST00000574099
 
ENST00000576033
 
 
 
 


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