RSPH10B2

Summary

RSPH10B2 (radial spoke head 10 homolog B2, HGNC:34385) is a protein-coding gene on chromosome 7p22.1, encoding Radial spoke head 10 homolog B2 (B2RC85). May function as part of the axonemal radial spoke complex 3 (RS3).

This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes.

Source: NCBI Gene 728194 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 74 total
• MANE Select transcript: NM_001099697

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34385
Approved symbol	RSPH10B2
Name	radial spoke head 10 homolog B2
Location	7p22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000169402
Ensembl biotype	protein_coding
Entrez	728194

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 11 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000297186, ENST00000403107, ENST00000404077, ENST00000418406, ENST00000435395, ENST00000463354, ENST00000485129, ENST00000485920, ENST00000489190, ENST00000493745, ENST00000497737, ENST00000861576, ENST00000861577, ENST00000956186, ENST00000956187, ENST00000956188, ENST00000956189

RefSeq mRNA: 1 — MANE Select: NM_001099697 NM_001099697

CCDS: CCDS43552

Canonical transcript exons

ENST00000404077 — 21 exons

Exon	Start	End
ENSE00001648519	6798363	6798765
ENSE00001675783	6757357	6757476
ENSE00001722080	6757593	6757931
ENSE00001740062	6780809	6780888
ENSE00001797247	6779610	6779724
ENSE00003465461	6786878	6787021
ENSE00003466548	6768590	6768766
ENSE00003489338	6771547	6771691
ENSE00003515619	6791904	6791997
ENSE00003541004	6760226	6760294
ENSE00003545896	6796568	6796766
ENSE00003546869	6776357	6776546
ENSE00003552460	6789631	6789759
ENSE00003559128	6763928	6764101
ENSE00003600898	6785949	6786056
ENSE00003605257	6773350	6773471
ENSE00003633307	6765706	6765791
ENSE00003655719	6766757	6766877
ENSE00003659698	6759084	6759159
ENSE00003662262	6781328	6781476
ENSE00003978205	6754103	6754174

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 87.77.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	87.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.18	gold quality
testis	UBERON:0000473	81.53	gold quality
left testis	UBERON:0004533	81.14	gold quality
right testis	UBERON:0004534	80.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	79.96	gold quality
fallopian tube	UBERON:0003889	70.10	gold quality
right lung	UBERON:0002167	63.14	gold quality
cortical plate	UBERON:0005343	61.08	gold quality
endometrium	UBERON:0001295	60.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	59.80	gold quality
lower esophagus mucosa	UBERON:0035834	57.93	gold quality
hypothalamus	UBERON:0001898	57.82	gold quality
Ammon’s horn	UBERON:0001954	57.57	gold quality
caudate nucleus	UBERON:0001873	56.02	gold quality
pituitary gland	UBERON:0000007	55.65	gold quality
adenohypophysis	UBERON:0002196	55.15	gold quality
ganglionic eminence	UBERON:0004023	55.07	gold quality
muscle tissue	UBERON:0002385	54.79	gold quality
prefrontal cortex	UBERON:0000451	54.69	gold quality
ventricular zone	UBERON:0003053	53.66	gold quality
left uterine tube	UBERON:0001303	53.33	gold quality
frontal cortex	UBERON:0001870	53.20	gold quality
granulocyte	CL:0000094	52.74	gold quality
brain	UBERON:0000955	52.48	gold quality
lung	UBERON:0002048	52.44	gold quality
temporal lobe	UBERON:0001871	52.30	gold quality
nucleus accumbens	UBERON:0001882	52.22	gold quality
stromal cell of endometrium	CL:0002255	52.21	silver quality
cerebellum	UBERON:0002037	52.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting RSPH10B2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-3678-3P	99.31	67.10	1432
HSA-MIR-8065	99.19	70.38	1289
HSA-MIR-6811-3P	98.62	66.54	944
HSA-MIR-4511	98.32	67.97	1500
HSA-MIR-4708-5P	97.77	67.82	831
HSA-MIR-3936	97.64	64.47	732

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rsph10b	ENSMUSG00000075569
rattus_norvegicus	Rsph10b	ENSRNOG00000001036

Paralogs (7): MORN1 (ENSG00000116151), MORN3 (ENSG00000139714), SETD7 (ENSG00000145391), RSPH10B (ENSG00000155026), RSPH1 (ENSG00000160188), ALS2CL (ENSG00000178038), MORN2 (ENSG00000188010)

Protein

Protein identifiers

Radial spoke head 10 homolog B2 — B2RC85 (reviewed: B2RC85)

All UniProt accessions (4): A0A1D5RMP1, B2RC85, C9JJN2, H0YFY2

UniProt curated annotations — full annotation on UniProt →

Function. May function as part of the axonemal radial spoke complex 3 (RS3). Radial spoke complexes are important for ciliary motility.

Subunit / interactions. Interacts with RSPH6A. Does not appear to be part of the axonemal radial spoke complexes 1 or 2.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Cell projection. Cilium. Flagellum.

Isoforms (2)

UniProt ID	Names	Canonical?
B2RC85-1	1	yes
B2RC85-2	2

RefSeq proteins (1): NP_001093167* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003409	MORN	Repeat

Pfam: PF02493

UniProt features (27 total): repeat 10, compositionally biased region 4, sequence conflict 4, region of interest 3, splice variant 3, chain 1, coiled-coil region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B2RC85-F1	71.64	0.41

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 23 (showing top): chr7p22, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CILIUM, GOCC_9PLUS2_MOTILE_CILIUM, MIR6720_5P, GSE15659_NAIVE_VS_PTPRC_NEG_CD4_TCELL_DN, GSE15659_NAIVE_CD4_TCELL_VS_RESTING_TREG_DN, GSE15659_NAIVE_CD4_TCELL_VS_NONSUPPRESSIVE_TCELL_DN, GSE15659_NAIVE_CD4_TCELL_VS_ACTIVATED_TREG_DN, GSE15659_CD45RA_NEG_CD4_TCELL_VS_ACTIVATED_TREG_DN, GSE15659_RESTING_TREG_VS_NONSUPPRESSIVE_TCELL_DN, GSE15659_RESTING_VS_ACTIVATED_TREG_DN, GSE15659_NONSUPPRESSIVE_TCELL_VS_ACTIVATED_TREG_DN, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (8): cilium (GO:0005929), axoneme (GO:0005930), sperm flagellum (GO:0036126), 9+2 motile cilium (GO:0097729), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
radial spoke	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cilium	1

Protein interactions and networks

STRING

394 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RSPH10B2	ANKRD61	A6NGH8	582
RSPH10B2	H3BVE0	H3BVE0	582
RSPH10B2	FAM217A	Q8IXS0	543
RSPH10B2	OR6M1	Q8NGM8	507
RSPH10B2	OR8H3	Q8N146	480
RSPH10B2	ZNF853	P0CG23	450
RSPH10B2	MROH9	Q5TGP6	447
RSPH10B2	LIMS3	P0CW19	447
RSPH10B2	OR9G1	Q8NH87	447
RSPH10B2	CCDC81	Q6ZN84	433
RSPH10B2	MFSD6L	Q8IWD5	431
RSPH10B2	TMPRSS12	Q86WS5	399
RSPH10B2	KRTCAP3	Q53RY4	393
RSPH10B2	ESPNL	Q6ZVH7	377
RSPH10B2	GPR62	Q9BZJ7	370

IntAct

1 interactions, top by confidence:

BioGRID (7): CALML3 (Affinity Capture-MS), HERC1 (Affinity Capture-MS), CALML3 (Affinity Capture-MS), RSPH10B (Affinity Capture-MS), RSPH10B (Affinity Capture-MS), RSPH10B (Positive Genetic), APP (Reconstituted Complex)

ESM2 similar proteins: A1A5R8, A1L1R5, A2A3K4, A2VDZ4, A5PKL1, A7E379, A8KBE0, B2GUY1, B2RC85, E1B9D8, E9PYQ0, O00444, O00522, O01326, O54852, P0C881, P59111, Q04688, Q08CH7, Q14693, Q1JPG1, Q5R9Z7, Q5RFV8, Q61XX9, Q64702, Q66HB5, Q68FF0, Q6DTM3, Q6EEF3, Q6EMB2, Q6NSI8, Q6S5J6, Q6TNJ1, Q6ZT98, Q8BRB7, Q8CDA1, Q8CDM1, Q8CDP0, Q8K3E5, Q8N157

Diamond homologs: B2RC85, E9PYQ0, P0C881, Q08CH7, Q1JPG1, Q66HB5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3404 predictions. Top by Δscore:

Variant	Effect	Δscore
7:6757928:A:T	donor_gain	1.0000
7:6759079:TGTA:T	acceptor_loss	1.0000
7:6759081:TA:T	acceptor_loss	1.0000
7:6759082:A:AG	acceptor_gain	1.0000
7:6759082:AGCT:A	acceptor_loss	1.0000
7:6759083:G:GG	acceptor_gain	1.0000
7:6759083:GCT:G	acceptor_gain	1.0000
7:6759083:GCTAT:G	acceptor_gain	1.0000
7:6759158:GT:G	donor_gain	1.0000
7:6759160:G:GG	donor_gain	1.0000
7:6763911:T:TA	acceptor_gain	1.0000
7:6764036:TTC:T	donor_gain	1.0000
7:6764098:G:GT	donor_gain	1.0000
7:6764098:G:T	donor_gain	1.0000
7:6766750:A:AG	acceptor_gain	1.0000
7:6766751:T:G	acceptor_gain	1.0000
7:6766753:CTA:C	acceptor_loss	1.0000
7:6766754:TAG:T	acceptor_loss	1.0000
7:6766755:A:AG	acceptor_gain	1.0000
7:6766755:AGTTA:A	acceptor_loss	1.0000
7:6766756:G:GG	acceptor_gain	1.0000
7:6766756:GT:G	acceptor_gain	1.0000
7:6766756:GTT:G	acceptor_gain	1.0000
7:6766756:GTTA:G	acceptor_gain	1.0000
7:6766756:GTTAT:G	acceptor_gain	1.0000
7:6768586:TCA:T	acceptor_loss	1.0000
7:6768587:CA:C	acceptor_loss	1.0000
7:6768588:A:AG	acceptor_gain	1.0000
7:6768588:AGAAT:A	acceptor_gain	1.0000
7:6768589:G:A	acceptor_loss	1.0000

AlphaMissense

5848 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:6766788:T:A	W231R	0.999
7:6766788:T:C	W231R	0.999
7:6768740:T:A	W311R	0.999
7:6768740:T:C	W311R	0.999
7:6766860:T:A	W255R	0.998
7:6766860:T:C	W255R	0.998
7:6759154:T:G	Y109D	0.997
7:6760233:T:C	F113S	0.997
7:6763935:T:C	F136S	0.997
7:6764075:T:A	W183R	0.997
7:6764075:T:C	W183R	0.997
7:6765754:T:A	W208R	0.997
7:6765754:T:C	W208R	0.997
7:6766782:G:C	G229R	0.997
7:6766790:G:C	W231C	0.997
7:6766790:G:T	W231C	0.997
7:6766862:G:C	W255C	0.997
7:6766862:G:T	W255C	0.997
7:6760232:T:C	F113L	0.996
7:6760234:T:A	F113L	0.996
7:6760234:T:G	F113L	0.996
7:6760259:G:T	G122W	0.996
7:6766789:G:C	W231S	0.996
7:6768742:G:C	W311C	0.996
7:6768742:G:T	W311C	0.996
7:6763945:T:A	N139K	0.995
7:6763945:T:G	N139K	0.995
7:6764070:G:A	G181D	0.995
7:6765748:G:A	G206R	0.995
7:6765748:G:C	G206R	0.995

dbSNP variants (sampled 300 via entrez): RS1000378147 (7:6770940 C>A,T), RS1000513116 (7:6774503 G>A), RS1001258879 (7:6752551 A>G), RS1001786980 (7:6754024 T>A,C,G), RS1002051806 (7:6783536 A>G), RS1002190679 (7:6784749 G>C), RS1002763025 (7:6797836 C>G,T), RS1002948116 (7:6779358 G>T), RS1003053991 (7:6761408 C>A,T), RS1003308211 (7:6798762 C>T), RS1004181371 (7:6791627 C>A,T), RS1004545852 (7:6791374 T>C), RS1004701421 (7:6752310 C>CTG), RS1004732817 (7:6751291 C>G,T), RS1004980557 (7:6790046 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_155	Body mass index	1.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
lead acetate	affects cotreatment, decreases expression	1
zinc protoporphyrin	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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