RSPH3 (radial spoke head 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 83861
Gene name Radial spoke head 3
Gene symbol RSPH3
Synonyms (NCBI Gene)
CILD32RSHL2RSP3dJ111C20.1
Chromosome 6
Chromosome location 6q25.3
Summary 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.
8
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.
124
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615876 21054 ENSG00000130363
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
266
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Pathogenic rs142800871 RCV005892221
Colon adenocarcinoma Likely pathogenic; Pathogenic rs758891825 RCV005935037
Primary ciliary dyskinesia 32 Pathogenic; Likely pathogenic rs752134900, rs751193355, rs767979912, rs1778794132, rs1443891718, rs374014611, rs775284185, rs758891825, rs2128607933, rs1350940598, rs796052117, rs796052118, rs875989825, rs796052119, rs142800871
View all (8 more)		 RCV001333303
RCV001733739
RCV003756292
RCV001970132
RCV001949214
RCV001944496
RCV001923582
RCV002018624
RCV002052228
RCV002642851
RCV000186567
RCV000186569
RCV000186570
RCV000186571
RCV000186568
RCV003448929
RCV003755334
RCV003755734
RCV003839700
RCV004593581
RCV000690816
RCV000805504
RCV000800339
RCV001217185
RSPH3-related disorder Pathogenic; Likely pathogenic rs142800871, rs765099471 RCV004757155
RCV003969867
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign; Conflicting classifications of pathogenicity rs80307831, rs147211320, rs199716916 RCV005925104
RCV005910199
RCV005908679
Familial cancer of breast Benign rs140073925 RCV005927822
Primary ciliary dyskinesia Uncertain significance rs138781661, rs140068249 RCV001255285
RCV001255260
Sarcoma Benign rs80307831 RCV005925105
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease 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