GenTIGS

Coiled-coil domain 39 molecular ruler complex subunit (CCDC39) Associated conditions: 1. Primary ciliary dyskinesia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 124 reference articles

Variant Information Coiled-coil domain 39 molecular ruler complex subunit (CCDC39) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Coiled-coil domain 39 molecular ruler complex subunit (CCDC39)

ClinVar variants:Revealing mutagenic patterns

GO Term of Coiled-coil domain 39 molecular ruler complex subunit (CCDC39)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	involved_in	heart looping	Process	22693285
2	Homo sapiens	IMP	acts_upstream_of_or_within	cilium movement	Process	22499950
3	Homo sapiens	IMP	acts_upstream_of_or_within	regulation of cilium beat frequency	Process	23255504
4	Homo sapiens	IEA	located_in	extracellular region	Component	-
5	Homo sapiens	IEA	located_in	cytosol	Component	-
6	Homo sapiens	IDA	located_in	cilium	Component	27120127
7	Homo sapiens	IBA	is_active_in	axoneme	Component	21873635
8	Homo sapiens	IDA	located_in	axoneme	Component	21131972 21131974 26387594
9	Homo sapiens	IEA	involved_in	brain development	Process	-
10	Homo sapiens	IMP	acts_upstream_of_or_within	flagellated sperm motility	Process	23255504
11	Homo sapiens	IMP	involved_in	lung development	Process	22693285
12	Homo sapiens	IMP	involved_in	determination of pancreatic left/right asymmetry	Process	22693285
13	Homo sapiens	IBA	involved_in	inner dynein arm assembly	Process	21873635
14	Homo sapiens	IMP	acts_upstream_of_or_within	inner dynein arm assembly	Process	23255504
15	Homo sapiens	IMP	acts_upstream_of_or_within	motile cilium assembly	Process	23255504
16	Homo sapiens	IEA	involved_in	establishment of localization in cell	Process	-
17	Homo sapiens	IBA	involved_in	cilium-dependent cell motility	Process	21873635
18	Homo sapiens	IMP	involved_in	cilium-dependent cell motility	Process	21131972
19	Homo sapiens	IBA	involved_in	epithelial cilium movement involved in determination of left/right asymmetry	Process	21873635
20	Homo sapiens	IMP	involved_in	epithelial cilium movement involved in determination of left/right asymmetry	Process	21131972
21	Homo sapiens	IEA	involved_in	protein localization to cilium	Process	-
22	Homo sapiens	IEA	involved_in	establishment of left/right asymmetry	Process	-
23	Homo sapiens	IMP	involved_in	axonemal dynein complex assembly	Process	21131972
24	Homo sapiens	IMP	involved_in	determination of digestive tract left/right asymmetry	Process	22693285
25	Homo sapiens	IMP	involved_in	determination of liver left/right asymmetry	Process	22693285
26	Homo sapiens	IEA	involved_in	cerebrospinal fluid circulation	Process	-