CCDC39 - coiled-coil domain containing 39 Gene

Also Known as FAP59; CFAP59; CILD14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 339829

About CCDC39

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:180,614,008-180,679,489 (from NCBI)

This gene has 11 transcripts (splice variants), 204 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 5.3), lymph node (RPKM 2.5) and 23 other tissues.

Summary

The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]

CCDC39 Products (1)

mRNA Protein Name
NM_181426.2 NP_852091.1 coiled-coil domain-containing protein 39

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in axonemal dynein complex assembly IMP
IMP: Inferred from mutant phenotype
21131972 GOA
acts upstream of or within cilium movement IMP
IMP: Inferred from mutant phenotype
22499950 GOA
involved in cilium-dependent cell motility IMP
IMP: Inferred from mutant phenotype
21131972 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
21131972 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
Cellular Component GO Annotation Evidence References Source
located in axoneme IDA
IDA: Inferred from direct assay
21131972 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
Protein Preferred Names Protein Names

coiled-coil domain-containing protein 39

Related Diseases

Diseases Alias
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
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
Infertility
Situs Inversus

  • Situs Inversus Viscerum

  • Laterality Sequence

  • Complete Transposition

  • Siv
Kartagener Syndrome

  • Kartagener'S Syndrome
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
Acantholytic Acanthoma
Verrucous Papilloma
Skin Papilloma

  • Cutaneous Papilloma

  • Papilloma Of Skin

  • Papilloma Skin
Bronchiectasis

  • Polynesian Bronchiectasis

  • Kartagener Syndrome

  • Bronchiectasis Nos
Nasal Cavity Lymphoma

  • Lymphoma Of Nasal Cavity

  • Lymphoma Of The Nasal Cavity
Joubert Syndrome 25

  • JBTS25

  • Joubert Syndrome, Type 25
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
Epidermodysplasia Verruciformis 1

  • Epidermodysplasia Verruciformis

  • Epidermodysplasia Verruciformis, Susceptibility To, 1

  • Lutz-Lewandowsky Epidermodysplasia Verruciformis

  • EV1

  • Lewandowsky-Lutz Syndrome

  • Ev
Dextrocardia

  • Heart Predominantly In Right Hemithorax

  • Heart In Right Chest

  • Right-Sided Heart

  • Congenital Dextrocardia Of Heart

  • Transposition Of Heart
Common Wart

  • Verruca Vulgaris

  • Viral Warts Nos

  • Filiform Warts

  • Digitate Warts
Paranasal Sinus Disease

  • Paranasal Sinus Diseases

  • Disorder Of Nasal Sinus
Acute Endometritis
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
Middle Ear Disease

  • Middle Ear Anomaly

  • Disorder Of Middle Ear
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-RS02045 CCDC39 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus CCDC39 VGNC VGNC:50106
Macaca mulatta CCDC39 VGNC VGNC:110376
Rattus norvegicus CCDC39 RGD RGD:1306277
Felis catus CCDC39 VGNC VGNC:102621
Canis familiaris CCDC39 VGNC VGNC:49810
Mus musculus CCDC39 MGD MGI:1289263