GediPNet logo

RSPH6A (radial spoke head 6 homolog A)
Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81492
Gene nameGene Name - the full gene name approved by the HGNC.
Radial spoke head 6 homolog A
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RSPH6A
SynonymsGene synonyms aliases
RSHL1, RSP4, RSP6, RSPH4B
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme`s outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001534 Component Radial spoke IEA
GO:0003341 Process Cilium movement IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005930 Component Axoneme IBA 21873635
GO:0035082 Process Axoneme assembly IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H0K4
Protein name Radial spoke head protein 6 homolog A (Radial spoke head-like protein 1)
Protein function Essential for sperm flagellar assembly and male fertility.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04712 Radial_spoke
198 → 695
Radial spokehead-like protein
 Family
Sequence
Sequence length 717
Interactions View interactions
Associated diseases
Gene Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 30940143
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs-1 30940143

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412