CCDC40 - coiled-coil domain containing 40 Gene

Also Known as CILD15; FAP172; CFAP172

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55036

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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 Set	/	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
Others	CCDC40	NCBI