1. Gene
  2. CCDC39 - coiled-coil domain containing 39 Gene

CCDC39 - coiled-coil domain containing 39 Gene

Homo sapiens

Also known as FAP59; CFAP59; CILD14

Gene ID: 339829 | Gene type: protein coding

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
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

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