CFAP210

Summary

CFAP210 (cilia and flagella associated protein 210, HGNC:25064) is a protein-coding gene on chromosome 2q31.1, encoding Cilia- and flagella- associated protein 210 (Q0VFZ6). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule.

Source: NCBI Gene 129881 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 80 total — 1 pathogenic
• MANE Select transcript: NM_001085447

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25064
Approved symbol	CFAP210
Name	cilia and flagella associated protein 210
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Aliases	LOC129881
Ensembl gene	ENSG00000154479
Ensembl biotype	protein_coding
Entrez	129881

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000419478, ENST00000421028, ENST00000447353

RefSeq mRNA: 1 — MANE Select: NM_001085447 NM_001085447

CCDS: CCDS46445

Canonical transcript exons

ENST00000447353 — 9 exons

Exon	Start	End
ENSE00001016144	169649182	169649346
ENSE00001146957	169650329	169650521
ENSE00001225835	169645425	169646182
ENSE00001404590	169654075	169654214
ENSE00001527650	169662280	169662436
ENSE00001527651	169674576	169674769
ENSE00001527655	169681007	169681233
ENSE00001631329	169694261	169694405
ENSE00003498153	169674867	169675040

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 96.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9814 / max 105.4672, expressed in 990 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31739	2.1781	808
31738	1.8033	518

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.87	gold quality
bronchial epithelial cell	CL:0002328	95.64	gold quality
left testis	UBERON:0004533	94.56	gold quality
bronchus	UBERON:0002185	94.18	gold quality
right testis	UBERON:0004534	94.09	gold quality
testis	UBERON:0000473	92.33	gold quality
right uterine tube	UBERON:0001302	90.61	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.68	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.16	gold quality
oviduct epithelium	UBERON:0004804	85.50	gold quality
adult organism	UBERON:0007023	78.52	gold quality
fallopian tube	UBERON:0003889	78.07	gold quality
secondary oocyte	CL:0000655	77.70	gold quality
epithelium of nasopharynx	UBERON:0001951	76.44	gold quality
corpus callosum	UBERON:0002336	73.13	gold quality
pancreatic ductal cell	CL:0002079	72.66	silver quality
ventricular zone	UBERON:0003053	71.50	gold quality
adenohypophysis	UBERON:0002196	69.96	gold quality
caput epididymis	UBERON:0004358	69.44	gold quality
nasal cavity mucosa	UBERON:0001826	68.41	gold quality
caudate nucleus	UBERON:0001873	67.80	gold quality
pituitary gland	UBERON:0000007	67.62	gold quality
hypothalamus	UBERON:0001898	67.57	gold quality
amygdala	UBERON:0001876	66.09	gold quality
sural nerve	UBERON:0015488	65.98	gold quality
right lung	UBERON:0002167	65.60	gold quality
nucleus accumbens	UBERON:0001882	65.12	gold quality
primary visual cortex	UBERON:0002436	62.88	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	915.49
E-GEOD-130148	yes	12.37
E-ANND-3	yes	9.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting CFAP210, 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-190A-3P	100.00	80.35	5520
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-4506	99.34	67.47	526
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-223-5P	99.24	68.82	1206
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-140-3P	99.04	67.69	1324
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-3928-5P	98.50	67.48	980
HSA-MIR-6806-3P	98.50	67.31	980
HSA-MIR-581	98.39	67.42	835
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-3130-5P	98.14	66.00	711
HSA-MIR-193B-5P	97.91	65.88	837
HSA-MIR-127-5P	97.78	67.64	869
HSA-MIR-4482-5P	97.53	65.68	598
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-3118	97.11	66.58	984
HSA-MIR-134-5P	97.11	66.52	976

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cfap210	ENSMUSG00000070883
rattus_norvegicus	Cfap210	ENSRNOG00000052954

Protein

Protein identifiers

Cilia- and flagella- associated protein 210 — Q0VFZ6 (reviewed: Q0VFZ6)

Alternative names: Coiled-coil domain-containing protein 173

All UniProt accessions (4): Q0VFZ6, B4DX81, C9J9F8, C9JQ25

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules.

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

Tissue specificity. Expressed in airway epithelial cells.

RefSeq proteins (1): NP_001078916* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039986	CFAP210	Family
IPR043597	TPH_dom	Domain

Pfam: PF13868

UniProt features (6 total): coiled-coil region 4, chain 1, region of interest 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7UNG	ELECTRON MICROSCOPY	3.6
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q0VFZ6-F1	81.20	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): SHEPARD_BMYB_MORPHOLINO_UP, FOSTER_TOLERANT_MACROPHAGE_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, GOCC_AXONEMAL_MICROTUBULE, GOCC_9PLUS2_MOTILE_CILIUM, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER

GO Biological Process (1): flagellated sperm motility (GO:0030317)

GO Molecular Function (0):

GO Cellular Component (10): axonemal microtubule (GO:0005879), axoneme (GO:0005930), sperm flagellum (GO:0036126), axonemal B tubule inner sheath (GO:0160112), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995), polymeric cytoskeletal fiber (GO:0099513)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoskeleton	2
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
cytoplasmic microtubule	1
axoneme	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1
supramolecular fiber	1

Protein interactions and networks

STRING

853 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP210	CCDC160	A6NGH7	557
CFAP210	CFAP77	Q6ZQR2	543
CFAP210	CCDC190	Q86UF4	542
CFAP210	CCDC17	Q96LX7	533
CFAP210	CCDC60	Q8IWA6	532
CFAP210	CCDC13	Q8IYE1	491
CFAP210	SPACA9	Q96E40	479
CFAP210	ZNF169	Q14929	448
CFAP210	ODR4	Q5SWX8	447
CFAP210	AK9	Q5TCS8	432
CFAP210	CFAP61	Q8NHU2	424
CFAP210	ERICH3	Q5RHP9	407
CFAP210	NBAS	A2RRP1	406
CFAP210	CCDC68	Q9H2F9	405
CFAP210	DRC2	Q8IXS2	402

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CFAP210	DUSP14	psi-mi:“MI:0914”(association)	0.530

BioGRID (12): DUSP14 (Affinity Capture-MS), PKP3 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), CCDC173 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), TMCO1 (Cross-Linking-MS (XL-MS)), CCDC173 (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS)), RPN1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0R4IFG5, A0A480NP79, A0A974E306, A0AUT1, A0JLY1, A4IJ21, A5A6J4, A8I9E8, A8IRJ7, A8IUG5, E1BJL9, F1N7G5, M0R3K6, M1V4Y8, O95990, Q0VC09, Q0VFZ6, Q17QH9, Q1RM03, Q2KI00, Q2KIQ2, Q32LH1, Q3TGF2, Q3TVW5, Q4R698, Q4R7T8, Q4R8Y5, Q5NVP3, Q5RE49, Q5U4F3, Q5XIN9, Q61884, Q6AXN9, Q6AXQ8, Q6AYL4, Q6PBA8, Q6ZN84, Q78TU8, Q8BRC6, Q8N443

Diamond homologs: A0JLY1, E1BJL9, Q0VFZ6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	74
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	Pathogenic

SpliceAI

1604 predictions. Top by Δscore:

Variant	Effect	Δscore
2:169649177:ATTAC:A	donor_loss	1.0000
2:169649178:TTAC:T	donor_loss	1.0000
2:169649179:TACCA:T	donor_loss	1.0000
2:169649181:C:G	donor_loss	1.0000
2:169649204:TGA:T	donor_gain	1.0000
2:169649342:TTCAT:T	acceptor_gain	1.0000
2:169649343:TCAT:T	acceptor_gain	1.0000
2:169649344:CAT:C	acceptor_gain	1.0000
2:169649344:CATC:C	acceptor_gain	1.0000
2:169649345:AT:A	acceptor_gain	1.0000
2:169649346:TCTA:T	acceptor_loss	1.0000
2:169649347:C:CC	acceptor_gain	1.0000
2:169649351:A:C	acceptor_gain	1.0000
2:169649353:G:C	acceptor_gain	1.0000
2:169649353:G:GC	acceptor_gain	1.0000
2:169649354:T:C	acceptor_gain	1.0000
2:169649354:T:TC	acceptor_gain	1.0000
2:169649355:T:C	acceptor_gain	1.0000
2:169649355:T:TC	acceptor_gain	1.0000
2:169654214:CCT:C	acceptor_gain	1.0000
2:169654216:T:C	acceptor_gain	1.0000
2:169662278:A:AC	donor_gain	1.0000
2:169662279:C:CC	donor_gain	1.0000
2:169662437:C:CC	acceptor_gain	1.0000
2:169674574:A:AC	donor_gain	1.0000
2:169674575:C:CT	donor_gain	1.0000
2:169674575:CT:C	donor_gain	1.0000
2:169674575:CTG:C	donor_gain	1.0000
2:169674858:A:AC	donor_gain	1.0000
2:169674859:A:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000001069 (2:169675537 C>A,T), RS1000017178 (2:169658869 T>C), RS1000067943 (2:169658599 A>G), RS1000178995 (2:169696172 C>T), RS1000203248 (2:169688186 G>T), RS1000357925 (2:169666346 A>C), RS1000412740 (2:169649016 C>G), RS1000426311 (2:169694624 T>C), RS1000488159 (2:169683758 T>A), RS1000514922 (2:169682206 T>G), RS1000542219 (2:169684094 T>C), RS1000610133 (2:169650723 A>G), RS1000611078 (2:169686752 C>A), RS1000742894 (2:169647456 C>T), RS1000753670 (2:169671298 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol S	increases methylation, decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation	1
trichostatin A	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Clozapine	affects cotreatment, increases expression	1
Cuprizone	affects cotreatment, increases expression	1
Folic Acid	increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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