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RSPH6A

gene
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Also known as RSP4RSP6RSPH4B

Summary

RSPH6A (radial spoke head 6 homolog A, HGNC:14241) is a protein-coding gene on chromosome 19q13.3, encoding Radial spoke head protein 6 homolog A (Q9H0K4). Functions as part of radial spoke complexes in the axoneme of sperm flagella that play an important part in motility.

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).

Source: NCBI Gene 81492 — RefSeq curated summary.

At a glance

  • GWAS associations: 12
  • Clinical variants (ClinVar): 129 total
  • MANE Select transcript: NM_030785

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14241
Approved symbolRSPH6A
Nameradial spoke head 6 homolog A
Location19q13.3
Locus typegene with protein product
StatusApproved
AliasesRSP4, RSP6, RSPH4B
Ensembl geneENSG00000104941
Ensembl biotypeprotein_coding
OMIM607548
Entrez81492

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000221538, ENST00000597055, ENST00000600188

RefSeq mRNA: 1 — MANE Select: NM_030785 NM_030785

CCDS: CCDS12675

Canonical transcript exons

ENST00000221538 — 6 exons

ExonStartEnd
ENSE000009529934581060345810840
ENSE000011127214581452745815308
ENSE000011127224580044645800563
ENSE000011127234580425245805016
ENSE000011127244580212045802264
ENSE000030716914579571345796106

Expression profiles

Bgee: expression breadth broad, 23 present calls, max score 86.19.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0929 / max 92.4724, expressed in 3 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1815760.05433
1815770.02143
1815750.01323
2088670.00403

Top tissues by expression

254 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
left testisUBERON:000453386.19gold quality
right testisUBERON:000453484.90gold quality
diaphragmUBERON:000110384.31gold quality
testisUBERON:000047383.65gold quality
type B pancreatic cellCL:000016981.76gold quality
olfactory bulbUBERON:000226481.66gold quality
vastus lateralisUBERON:000137975.37gold quality
quadriceps femorisUBERON:000137774.34gold quality
epithelium of nasopharynxUBERON:000195173.89gold quality
parotid glandUBERON:000183173.09gold quality
vena cavaUBERON:000408772.75gold quality
thymusUBERON:000237071.78gold quality
myocardiumUBERON:000234971.57gold quality
nasal cavity epitheliumUBERON:000538471.53gold quality
hair follicleUBERON:000207371.29gold quality
tongue squamous epitheliumUBERON:000691971.24gold quality
spermCL:000001970.89gold quality
triceps brachiiUBERON:000150970.40gold quality
gluteal muscleUBERON:000200070.31gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450270.30gold quality
mucosa of urinary bladderUBERON:000125969.93gold quality
CA1 field of hippocampusUBERON:000388169.27gold quality
superficial temporal arteryUBERON:000161469.07gold quality
deciduaUBERON:000245069.07gold quality
adult organismUBERON:000702369.01gold quality
biceps brachiiUBERON:000150768.31gold quality
upper arm skinUBERON:000426367.81gold quality
right lobe of thyroid glandUBERON:000111967.65gold quality
left lobe of thyroid glandUBERON:000112067.47gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451166.90gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no2.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting RSPH6A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-211099.9666.681930
HSA-MIR-766-5P99.4767.912225
HSA-MIR-3606-5P99.3169.671168
HSA-MIR-6828-5P99.3169.211433
HSA-MIR-429798.7766.952013
HSA-MIR-4700-5P98.6367.431915
HSA-MIR-5581-5P97.9166.50965
HSA-MIR-6783-5P97.6767.211528

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriorsph4aENSDARG00000067606
mus_musculusRsph6aENSMUSG00000040866
rattus_norvegicusRsph6aENSRNOG00000061526
drosophila_melanogasterRsph4aFBGN0034957

Paralogs (1): RSPH4A (ENSG00000111834)

Protein

Protein identifiers

Radial spoke head protein 6 homolog A — Q9H0K4 (reviewed: Q9H0K4)

Alternative names: Radial spoke head-like protein 1

All UniProt accessions (3): Q9H0K4, M0R103, M0R2K1

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Component of the axonemal radial spoke 1 (RS1) and 2 (RS2) complexes, at least composed of spoke head proteins RSPH1, RSPH3, RSPH9 and the cilia-specific component RSPH4A or sperm-specific component RSPH6A, spoke stalk proteins RSPH14, DNAJB13, DYDC1, ROPN1L and NME5, and the RS1 complex-specific anchor protein IQUB. Interacts with RSPH1. Interacts with RSPH3B. Interacts with RSPH4A. Interacts with RSPH9. Interacts with RSPH10B.

Subcellular location. Cytoplasm. Cytoskeleton. Flagellum axoneme.

Post-translational modifications. Phosphorylated by PKA. Phosphorylation increases in capacitated sperm.

Similarity. Belongs to the flagellar radial spoke RSP4/6 family.

RefSeq proteins (1): NP_110412* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR006802Radial_spokeFamily

Pfam: PF04712

UniProt features (11 total): region of interest 4, compositionally biased region 3, sequence conflict 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9H0K4-F168.760.36

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 74 (showing top): GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_MALE_GAMETE_GENERATION, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, SHEN_SMARCA2_TARGETS_DN, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM

GO Biological Process (6): cilium movement (GO:0003341), axoneme assembly (GO:0035082), sperm flagellum assembly (GO:0120316), manchette disassembly (GO:1905199), cilium assembly (GO:0060271), cilium movement involved in cell motility (GO:0060294)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): radial spoke head (GO:0001535), axoneme (GO:0005930), sperm flagellum (GO:0036126), radial spoke (GO:0001534), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
spermatid development2
protein-containing complex2
microtubule-based movement1
microtubule bundle formation1
cellular component assembly1
cilium assembly1
developmental process involved in reproduction1
flagellated sperm motility1
motile cilium assembly1
cellular component disassembly1
axoneme assembly1
intraciliary transport involved in cilium assembly1
cilium organization1
protein localization to cilium1
organelle assembly1
trans-Golgi to periciliary membrane compartment transport1
plasma membrane bounded cell projection assembly1
ciliary transition zone assembly1
cilium movement1
cell motility1
cilium-dependent cell motility1
binding1
radial spoke1
cytoskeleton1
microtubule1
ciliary plasm1
9+2 motile cilium1
axoneme1
intracellular anatomical structure1
intracellular membraneless organelle1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1
cilium1

Protein interactions and networks

STRING

1605 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
RSPH6ARSPH9Q9H1X1950
RSPH6ADMWDQ09019885
RSPH6ARSPH3Q86UC2833
RSPH6ARSU1Q15404757
RSPH6ARSPH1Q8WYR4665
RSPH6ADRC7Q8IY82573
RSPH6ADRC3Q9H069509
RSPH6ADRC4O95995485
RSPH6ACFAP43Q8NDM7484
RSPH6ARPS6P08227480
RSPH6ARSPH10BP0C881451
RSPH6ACCDC40Q4G0X9448
RSPH6ARPS2P15880436
RSPH6AKIF9Q9HAQ2434
RSPH6ACFAP53Q96M91433

IntAct

8 interactions, top by confidence:

ABTypeScore
LMO4RSPH6Apsi-mi:“MI:0915”(physical association)0.560
SMYD1RSPH6Apsi-mi:“MI:0915”(physical association)0.560
RSPH6AATP2A1psi-mi:“MI:0914”(association)0.350
LMO4RSPH6Apsi-mi:“MI:0915”(physical association)0.000
SMYD1RSPH6Apsi-mi:“MI:0915”(physical association)0.000

BioGRID (33): SMYD1 (Two-hybrid), LMO4 (Two-hybrid), TRIM11 (Affinity Capture-MS), MYBPC1 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), MYOM2 (Affinity Capture-MS), ACTA1 (Affinity Capture-MS), MYH8 (Affinity Capture-MS), MYH7 (Affinity Capture-MS), MYH4 (Affinity Capture-MS), MYH2 (Affinity Capture-MS), CRYAB (Affinity Capture-MS), TPM2 (Affinity Capture-MS), MYLPF (Affinity Capture-MS), OBSL1 (Affinity Capture-MS)

ESM2 similar proteins: A1L0Z6, A1SJF7, A9CB91, A9CB92, B6KG46, H9G301, O60071, O74521, O84512, O88828, P03520, P04603, P04880, P0CK49, P0CK50, P0CK62, P11823, P11824, P20435, P36595, P61217, P61218, P61219, Q01656, Q01657, Q11107, Q1E0W9, Q2NL37, Q2UKV7, Q4WXX5, Q54FA8, Q5B3I9, Q5R4R7, Q5R592, Q5TD94, Q6BER5, Q6CN69, Q6IQ63, Q6X1D7, Q7S1X9

Diamond homologs: A1L0Z6, Q01656, Q01657, Q5TD94, Q8BYM7, Q8CDR2, Q9H0K4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

129 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance116
Likely benign9
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1006 predictions. Top by Δscore:

VariantEffectΔscore
19:45800444:A:ACdonor_gain1.0000
19:45800445:C:CCdonor_gain1.0000
19:45810607:T:TAdonor_gain1.0000
19:45814525:A:ACdonor_gain1.0000
19:45814526:C:CCdonor_gain1.0000
19:45814526:CAGG:Cdonor_gain1.0000
19:45796103:CTTT:Cacceptor_gain0.9900
19:45800448:G:Adonor_gain0.9900
19:45802114:CCTTA:Cdonor_loss0.9900
19:45802115:CTTA:Cdonor_loss0.9900
19:45802116:TTA:Tdonor_loss0.9900
19:45802117:TAC:Tdonor_loss0.9900
19:45802118:A:ACdonor_gain0.9900
19:45802118:A:Cdonor_loss0.9900
19:45802119:C:CCdonor_gain0.9900
19:45802119:C:Gdonor_loss0.9900
19:45802119:CCTG:Cdonor_gain0.9900
19:45802260:CGGCC:Cacceptor_gain0.9900
19:45802262:GCCC:Gacceptor_loss0.9900
19:45802263:CC:Cacceptor_gain0.9900
19:45802264:CC:Cacceptor_gain0.9900
19:45802265:C:CCacceptor_gain0.9900
19:45802265:C:CGacceptor_loss0.9900
19:45802266:T:Aacceptor_loss0.9900
19:45804246:GCTCA:Gdonor_loss0.9900
19:45804247:CTCA:Cdonor_loss0.9900
19:45804248:TCA:Tdonor_loss0.9900
19:45804249:CAC:Cdonor_loss0.9900
19:45810597:ACTC:Adonor_loss0.9900
19:45810599:TCACC:Tdonor_loss0.9900

AlphaMissense

4717 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:45800543:A:GW607R1.000
19:45800543:A:TW607R1.000
19:45804284:A:GW541R1.000
19:45804284:A:TW541R1.000
19:45800477:A:GW629R0.999
19:45800477:A:TW629R0.999
19:45802126:C:GD598H0.999
19:45802143:A:GL592P0.999
19:45802260:C:GR553P0.999
19:45802263:C:TG552D0.999
19:45802264:C:GG552R0.999
19:45804278:G:CH543D0.999
19:45804282:C:AW541C0.999
19:45804282:C:GW541C0.999
19:45804420:G:CS495R0.999
19:45804420:G:TS495R0.999
19:45804422:T:GS495R0.999
19:45804593:A:GW438R0.999
19:45804593:A:TW438R0.999
19:45800497:G:TA622D0.998
19:45800541:C:AW607C0.998
19:45800541:C:GW607C0.998
19:45804283:C:GW541S0.998
19:45804445:C:GR487P0.998
19:45804463:A:GL481P0.998
19:45804551:C:GA452P0.998
19:45814560:A:GL206P0.998
19:45800475:C:AW629C0.997
19:45800475:C:GW629C0.997
19:45800485:G:AS626F0.997

dbSNP variants (sampled 300 via entrez): RS1000067899 (19:45806937 C>T), RS1000098734 (19:45807172 C>G,T), RS1000099188 (19:45808193 G>A), RS1000240182 (19:45807896 G>A), RS1000618598 (19:45802457 A>G), RS1000643062 (19:45797874 T>A,C), RS1000902761 (19:45814356 T>C), RS1000902925 (19:45809168 A>AT), RS1000906417 (19:45802286 G>A,T), RS1000909770 (19:45798031 T>C), RS1001074696 (19:45808309 C>G,T), RS1001107224 (19:45808548 A>C), RS1001127083 (19:45803489 C>T), RS1001141331 (19:45801984 C>A,G), RS1001421925 (19:45806261 G>A)

Disease associations

OMIM: gene MIM:607548 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

12 associations (top):

StudyTraitp-value
GCST001099_19Sudden cardiac arrest4.000000e-06
GCST004600_111Eosinophil percentage of white cells1.000000e-17
GCST004617_37Eosinophil percentage of granulocytes2.000000e-16
GCST004623_37Neutrophil percentage of granulocytes1.000000e-14
GCST007612_3Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy)1.000000e-08
GCST008403_29Arterial stiffness index1.000000e-07
GCST009798_38Asthma2.000000e-10
GCST011365_6Myocardial infarction3.000000e-08
GCST90002390_659Mean corpuscular hemoglobin7.000000e-10
GCST90002392_77Mean corpuscular volume3.000000e-16
GCST90002395_419Mean platelet volume2.000000e-12
GCST90002402_569Platelet count8.000000e-10

EFO canonical traits (7, from GWAS)

EFO IDTrait name
EFO:0004278sudden cardiac arrest
EFO:0007991eosinophil percentage of leukocytes
EFO:0007996eosinophil percentage of granulocytes
EFO:0007994neutrophil percentage of granulocytes
EFO:0004517arterial stiffness measurement
EFO:0004527mean corpuscular hemoglobin
EFO:0004309platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

ChemicalActions (top 5)PubMed papers
maleic acidincreases expression1
licochalcone Bincreases expression1
jinfukangaffects cotreatment, decreases expression1
Acetaminophendecreases expression1
Cisplatindecreases expression, affects cotreatment1
Silicon Dioxidedecreases expression1
Smokedecreases expression1
Valproic Acidincreases methylation1
Permethrindecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot