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 name Gene Name - the full gene name approved by the HGNC.
Radial spoke head 6 homolog A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RSPH6A
Synonyms (NCBI Gene) Gene synonyms aliases
RSHL1, RSP4, RSP6, RSPH4B
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary 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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
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 IDs Other 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
607548 14241 ENSG00000104941
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 Functions as part of radial spoke complexes in the axoneme of sperm flagella that play an important part in motility. The triple radial spokes (RS1, RS2 and RS3) are required to modulate beating of the sperm flagellum. {ECO:0000250|UniProtKB:Q8C
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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 30940143
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30940143 ClinVar
Myocardial Infarction Myocardial Infarction GWAS
Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy GWAS
Asthma Asthma GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Lupus Erythematosus Systemic Associate 8550090