RSPH3 (radial spoke head 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83861
Gene name Gene Name - the full gene name approved by the HGNC.
Radial spoke head 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RSPH3
Synonyms (NCBI Gene) Gene synonyms aliases
CILD32, RSHL2, RSP3, dJ111C20.1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was fir
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs142800871 T>C Pathogenic Intron variant, splice acceptor variant
rs760122351 G>A Pathogenic 5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant, intron variant
rs796052117 G>A Pathogenic Non coding transcript variant, 5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs796052118 G>A Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs796052119 G>A Pathogenic Non coding transcript variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(124)
miRTarBase ID miRNA Experiments Reference
MIRT619399 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT678389 hsa-miR-5693 HITS-CLIP 23824327
MIRT619398 hsa-miR-4485-5p HITS-CLIP 23824327
MIRT619397 hsa-miR-1281 HITS-CLIP 23824327
MIRT619396 hsa-miR-6741-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0001535 Component Radial spoke head ISS
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183, 37804054
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005929 Component Cilium IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615876 21054 ENSG00000130363
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q86UC2
Protein name Radial spoke head protein 3 homolog (A-kinase anchor protein RSPH3) (Radial spoke head-like protein 2)
Protein function Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia (By similarity). Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. M
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06098 Radial_spoke_3 188 → 470 Radial spoke protein 3 Family
Sequence 
MTVKPAKAASLARNLAKRRRTYLGGAAGRSQEPEVPCAAVLPGKPGDRNCPEFPPPDRTL
GCWATDAAPAAGLCGAGSEPSIAPTSCAGNLPSRPPPLLSPLLASRNPCPWHYLHLSGSH
NTLAPTCFKAKLHRKRGSQPPDMASALTDRTSRAPSTYTYTSRPRALPCQRSRYRDSLTQ
PDEEPMHYGNIMYDRRVIRGNTYALQTGPLLGRPDSLELQRQREARKRALARKQAQEQLR
PQTPEPVEGRKHVDVQTELYLEEIADRIIEVDMECQTDAFLDRPPTPLFIPAKTGKDVAT
QILEGELFDFDLEVKPVLEVLVGKTIEQSLLEVMEEEELANLRASQREYEELRNSERAEV
QRLEEQERRHREEKERRKKQQWEIMHKHNETSQKIAARAFAQRYLADLLPSVFGSLRDSG
YFYDPIERDIEIGFLPWLMNEVEKTMEYSMVGRTVLDMLIREVVEKRLCMYEHGEDTHQS
PEPEDEPGGPGAMTESLEASEFLEQSMSQTRELLLDGGYLQRTTYDRRSSQERKFMEERE
LLGQDEETAMRKSLGEEELS
Sequence length 560
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary dyskinesia Primary ciliary dyskinesia 32 rs796052117, rs796052118, rs875989825, rs796052119, rs142800871, rs1158185476, rs760122351, rs757935663 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 35524249
Attention Deficit Disorder with Hyperactivity Associate 34573389
Basal Ganglia Diseases Associate 26073779
Bovine Respiratory Disease Complex Associate 26073779
Capillary Malformation Arteriovenous Malformation Associate 32124190
Ciliary Motility Disorders Associate 26073779, 32124190, 35524249
Ciliopathies Associate 32124190
Congenital Abnormalities Associate 26073779
Infertility Associate 32124190
Infertility Male Associate 32124190