GenTIGS

Dynein axonemal heavy chain 5 (DNAH5) Associated conditions: 1. Primary ciliary dyskinesia 2. Kartagener syndrome

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
1	REVIEWED	NM_001369.3	NP_001360.1	NC_000005.10	(13690327..14011817, complement)	Reference GRCh38.p14 Primary Assembly	Q8TE73
2	REVIEWED	XR_001742034.2	-	NC_000005.10	(13690327..14011817, complement)	Reference GRCh38.p14 Primary Assembly	Q8TE73
3	REVIEWED	XR_001742035.2	-	NC_000005.10	(13690327..14011817, complement)	Reference GRCh38.p14 Primary Assembly	Q8TE73

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 160 reference articles

Variant Information Dynein axonemal heavy chain 5 (DNAH5) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Dynein axonemal heavy chain 5 (DNAH5)

ClinVar variants:Revealing mutagenic patterns

GO Term of Dynein axonemal heavy chain 5 (DNAH5)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	acts_upstream_of_or_within	cilium movement	Process	11062149 15750039 16627867 23261302
2	Homo sapiens	IEA	involved_in	epithelial cilium movement involved in extracellular fluid movement	Process	-
3	Homo sapiens	IEA	enables	ATP binding	Function	-
4	Homo sapiens	IEA	located_in	extracellular region	Component	-
5	Homo sapiens	IDA	located_in	cytoplasm	Component	29916806
6	Homo sapiens	IEA	located_in	microtubule	Component	-
7	Homo sapiens	IDA	located_in	axoneme	Component	15750039 16492982 18950741 23849778 24203976 26387594 26909801 29916806 31178125
8	Homo sapiens	IMP	acts_upstream_of_or_within	determination of left/right symmetry	Process	11788826 17515466 22499950
9	Homo sapiens	IEA	involved_in	heart development	Process	-
10	Homo sapiens	IBA	enables	minus-end-directed microtubule motor activity	Function	21873635
11	Homo sapiens	IEA	enables	ATP hydrolysis activity	Function	-
12	Homo sapiens	IEA	involved_in	lateral ventricle development	Process	-
13	Homo sapiens	IMP	acts_upstream_of_or_within	flagellated sperm motility	Process	15750039 18492703
14	Homo sapiens	IDA	located_in	motile cilium	Component	31178125
15	Homo sapiens	IBA	part_of	outer dynein arm	Component	21873635
16	Homo sapiens	IDA	part_of	outer dynein arm	Component	16627867
17	Homo sapiens	IMP	part_of	outer dynein arm	Component	11062149 11788826 22499950
18	Homo sapiens	IBA	involved_in	outer dynein arm assembly	Process	21873635
19	Homo sapiens	IMP	acts_upstream_of_or_within	outer dynein arm assembly	Process	11062149 11788826 15750039 16627867 18950741 22499950 23261302
20	Homo sapiens	IEA	enables	dynein intermediate chain binding	Function	-
21	Homo sapiens	IEA	involved_in	establishment of localization in cell	Process	-
22	Homo sapiens	IEA	enables	dynein light intermediate chain binding	Function	-
23	Homo sapiens	IMP	acts_upstream_of_or_within	cilium assembly	Process	16492982
24	Homo sapiens	IBA	involved_in	cilium movement involved in cell motility	Process	21873635
25	Homo sapiens	IEA	located_in	9+0 motile cilium	Component	-
26	Homo sapiens	IBA	is_active_in	9+2 motile cilium	Component	21873635
27	Homo sapiens	IDA	located_in	9+2 motile cilium	Component	26909801