GenTIGS

Radial spoke head component 4A (RSPH4A) 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
1	REVIEWED	NM_001010892.3	NP_001010892.1	NC_000006.12	(116616478..116632984)	Reference GRCh38.p14 Primary Assembly	Q5TD94
2	REVIEWED	NM_001161664.2	NP_001155136.1	NC_000006.12	(116616478..116632984)	Reference GRCh38.p14 Primary Assembly	Q5TD94
3	REVIEWED	XR_007059261.1	-	NC_000006.12	(116616478..116632984)	Reference GRCh38.p14 Primary Assembly	Q5TD94
4	REVIEWED	XR_007059262.1	-	NC_000006.12	(116616478..116632984)	Reference GRCh38.p14 Primary Assembly	Q5TD94
5	REVIEWED	XR_007059263.1	-	NC_000006.12	(116616478..116632984)	Reference GRCh38.p14 Primary Assembly	Q5TD94
6	REVIEWED	XR_007059264.1	-	NC_000006.12	(116616478..116632984)	Reference GRCh38.p14 Primary Assembly	Q5TD94

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 115 reference articles

Variant Information Radial spoke head component 4A (RSPH4A) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Radial spoke head component 4A (RSPH4A)

ClinVar variants:Revealing mutagenic patterns

GO Term of Radial spoke head component 4A (RSPH4A)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	ISS	part_of	radial spoke	Component	-
2	Homo sapiens	IBA	involved_in	cilium movement	Process	21873635
3	Homo sapiens	IMP	involved_in	cilium movement	Process	19200523
4	Homo sapiens	IEA	involved_in	epithelial cilium movement involved in extracellular fluid movement	Process	-
5	Homo sapiens	ND	enables	molecular_function	Function	-
6	Homo sapiens	IEA	located_in	extracellular region	Component	-
7	Homo sapiens	IBA	is_active_in	axoneme	Component	21873635
8	Homo sapiens	IC	located_in	axoneme	Component	19200523
9	Homo sapiens	IDA	located_in	axoneme	Component	23255504
10	Homo sapiens	IC	located_in	motile cilium	Component	19200523
11	Homo sapiens	IBA	involved_in	axoneme assembly	Process	21873635
12	Homo sapiens	IMP	involved_in	axoneme assembly	Process	19200523
13	Homo sapiens	IEA	involved_in	establishment of localization in cell	Process	-
14	Homo sapiens	IEA	involved_in	cilium movement involved in cell motility	Process	-
15	Homo sapiens	ISS	involved_in	radial spoke assembly	Process	-
16	Homo sapiens	IEA	located_in	9+2 motile cilium	Component	-
17	Homo sapiens	IEA	involved_in	maintenance of ciliary planar beating movement pattern	Process	-
18	Homo sapiens	IEA	part_of	radial spoke head 1	Component	-
19	Homo sapiens	IEA	part_of	radial spoke head 2	Component	-
20	Homo sapiens	IEA	part_of	radial spoke head 3	Component	-