CCDC40 - coiled-coil domain containing 40 Gene

Homo sapiens

Also known as CILD15; FAP172; CFAP172

Gene ID: 55036 | Gene type: protein coding

About CCDC40

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:80,036,642-80,100,613 (from NCBI)

This gene has 16 transcripts (splice variants), 190 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 4.5), lung (RPKM 1.1) and 14 other tissues.

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]

CCDC40 Products(3)

mRNA	Protein	Name
NM_001243342.2	NP_001230271.1	coiled-coil domain-containing protein 40 isoform 2
NM_001330508.2	NP_001317437.1	coiled-coil domain-containing protein 40 isoform 3
NM_017950.4	NP_060420.2	coiled-coil domain-containing protein 40 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in axonemal dynein complex assembly	IMP IMP: Inferred from mutant phenotype	21131974	GOA
acts upstream of or within cilium movement	IMP IMP: Inferred from mutant phenotype	22499950	GOA
involved in determination of digestive tract left/right asymmetry	IMP IMP: Inferred from mutant phenotype	22693285	GOA
involved in determination of liver left/right asymmetry	IMP IMP: Inferred from mutant phenotype	22693285	GOA
involved in determination of pancreatic left/right asymmetry	IMP IMP: Inferred from mutant phenotype	22693285	GOA
involved in epithelial cilium movement involved in determination of left/right asymmetry	IMP IMP: Inferred from mutant phenotype	21131974	GOA
involved in epithelial cilium movement involved in extracellular fluid movement	IMP IMP: Inferred from mutant phenotype	21131974	GOA
acts upstream of or within flagellated sperm motility	IMP IMP: Inferred from mutant phenotype	23255504	GOA
involved in heart looping	IMP IMP: Inferred from mutant phenotype	22693285	GOA
acts upstream of or within inner dynein arm assembly	IMP IMP: Inferred from mutant phenotype	23255504	GOA
involved in lung development	IMP IMP: Inferred from mutant phenotype	22693285	GOA
acts upstream of or within motile cilium assembly	IMP IMP: Inferred from mutant phenotype	23255504	GOA
acts upstream of or within regulation of cilium beat frequency	IMP IMP: Inferred from mutant phenotype	23255504	GOA
involved in regulation of cilium beat frequency	IMP IMP: Inferred from mutant phenotype	21131974	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in axoneme	IDA IDA: Inferred from direct assay	23255504	GOA
located in cilium	IDA IDA: Inferred from direct assay	27120127	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCDC40 Protein Structure

BRE1

0
200
400
600
800
1000
1142 a.a.

Protein Preferred Names

Protein Names

coiled-coil domain-containing protein 40

Related Diseases

Diseases

Alias

Ciliary Dyskinesia, Primary, 15

CILD15	Primary Ciliary Dyskinesia 15
Primary Ciliary Dyskinesia 15 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 15, With Or Without Situs Inversus
Ics15	Immotile Cilia Syndrome 15
Dyskinesia, Ciliary, Primary, Type 15

Kartagener Syndrome

Kartagener'S Syndrome

Ciliary Dyskinesia, Primary, 1

CILD1	Pcd
Primary Ciliary Dyskinesia 1	Kartagener Syndrome
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Immotile Cilia Syndrome
Ics	Polynesian Bronchiectasis
Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus	Ics1
Immotile Cilia Syndrome 1	Primary Ciliary Dyskinesia
KTGS	Dextrocardia-Bronchiectasis-Sinusitis Syndrome
Immotile Cilia Syndrome Kartagener Type	Primary Ciliary Dyskinesia Kartagener Type
Siewert Syndrome	Immotile Cilia
Dyskinesia, Ciliary, Primary, Type 1	Ciliary Motility Disorders

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

Ciliary Dyskinesia, Primary, 14

Primary Ciliary Dyskinesia 14	CILD14
Primary Ciliary Dyskinesia 14 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 14, With Or Without Situs Inversus
Ics14	Immotile Cilia Syndrome 14
Dyskinesia, Ciliary, Primary, Type 14

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Ciliary Dyskinesia, Primary, 30

Primary Ciliary Dyskinesia 30	CILD30
Ciliary Dyskinesia, Primary, 30, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 30 Without Situs Inversus
Primary Ciliary Dyskinesia 30 With Or Without Situs Inversus	Dyskinesia, Ciliary, Primary, Type 30

Joubert Syndrome 25

JBTS25

Joubert Syndrome, Type 25

Acute Endometritis

Dextrocardia

Heart Predominantly In Right Hemithorax	Heart In Right Chest
Right-Sided Heart	Congenital Dextrocardia Of Heart
Transposition Of Heart

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

Ethmoid Sinusitis

Ethmoidal Sinusitis

Ethmoiditis

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4	CILD4
Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus
Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8	CILD8
Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Chronic Rhinitis

Rhinitis - Chronic	Chronic Rhinitis Nos
Rhinitis	Rhinitis Nos

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

Right Atrial Isomerism

Ivemark Syndrome	Asplenia With Cardiovascular Anomalies
RAI	Asplenia Syndrome
Asplenia	Right Isomerism
Splenic Agenesis Syndrome	Bilateral Right-Sidedness Sequence
Right Sided Atrial Isomerism	Isomerism Of Right Atrial Appendage
Heterotaxy, Visceroatrial, Autosomal Recessive	Polyasplenia
Vah, Autosomal Recessive	Atrial Isomerism, Right
Congenital Absence Of Spleen	Bilateral Right-Sidedness

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02046	CCDC40 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CCDC40	VGNC	VGNC:60500
Bos taurus	CCDC40	VGNC	VGNC:26895
Macaca mulatta	CCDC40	VGNC	VGNC:70865
Rattus norvegicus	CCDC40	RGD	RGD:1592118
Mus musculus	CCDC40	MGD	MGI:2443893
Canis familiaris	CCDC40	VGNC	VGNC:38837

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