CFAP206

Summary

CFAP206 (cilia and flagella associated protein 206, HGNC:21405) is a protein-coding gene on chromosome 6q15, encoding Cilia- and flagella-associated protein 206 (Q8IYR0). Essential for sperm motility and is involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract.

Involved in sperm axoneme assembly. Predicted to be located in A axonemal microtubule and motile cilium. Predicted to be part of radial spoke. Predicted to be active in axoneme and ciliary basal body.

Source: NCBI Gene 154313 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 97 total — 2 pathogenic
• GTEx eGene: eQTL in 31 tissues, sQTL in 2 (q < 0.05)
• Phenotypes (HPO): 9
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.99 (unconstrained)
• MANE Select transcript: NM_001031743
• Notable: 97 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21405
Approved symbol	CFAP206
Name	cilia and flagella associated protein 206
Location	6q15
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25974, dJ382I10.1
Ensembl gene	ENSG00000272514
Ensembl biotype	protein_coding
Entrez	154313

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

MANE Select: ENST00000369562

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 2, TSL 5: 1

ENST00000369562, ENST00000296885, ENST00000480123, ENST00000489338, ENST00000906987, ENST00000906988, ENST00000906989, ENST00000918053, ENST00000963802, ENST00000963803, ENST00000963804, ENST00001127665, ENST00001141193

RefSeq mRNA: 1 — MANE Select: NM_001031743 NM_001031743

CCDS: CCDS34498

Canonical transcript exons

ENST00000369562 — 13 exons

Exon	Start	End
ENSE00001450342	87464020	87464465
ENSE00002077710	87407972	87408089
ENSE00003695074	87461022	87461165
ENSE00003696051	87426526	87426645
ENSE00003697503	87409835	87409947
ENSE00003698131	87428626	87428824
ENSE00003698188	87413810	87413900
ENSE00003699192	87416669	87416827
ENSE00003699818	87410585	87410668
ENSE00003700835	87431033	87431173
ENSE00003701235	87434860	87435053
ENSE00003701755	87418208	87418416
ENSE00003702452	87415686	87415874

Expression profiles

Bgee: expression breadth broad, 99 present calls, max score 92.70.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4491 / max 230.5289, expressed in 466 samples.

Highest expression (Bgee): uterine tube, testis, olfactory segment of nasal mucosa, primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFAP206 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 31 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 33 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	sqtl	1.1e-42	+2.33	6:87460996:C:G
Brain Frontal Cortex BA9	eqtl	4.4e-23	-0.60	6:87397697:A:T
Heart Atrial Appendage	eqtl	7.3e-14	-1.25	6:87415529:A:G
Brain Nucleus accumbens basal ganglia	eqtl	3.6e-12	+0.54	6:87465648:T:C
Brain Cortex	eqtl	9.4e-11	+0.53	6:87409283:A:G
Prostate	eqtl	3.2e-09	-0.45	6:87400387:T:C
Brain Putamen basal ganglia	eqtl	2.2e-08	-0.63	6:87367365:T:A
Brain Anterior cingulate cortex BA24	eqtl	2.6e-08	-0.47	6:87397697:A:T
Nerve Tibial	eqtl	3.7e-07	-0.74	6:87457647:G:A
Adipose Subcutaneous	eqtl	5.6e-07	-0.32	6:87210641:T:G
Colon Transverse	eqtl	2.6e-06	-0.95	6:87427251:G:C
Brain Caudate basal ganglia	eqtl	3.2e-06	-0.28	6:87397697:A:T
Artery Tibial	eqtl	6.4e-06	-0.71	6:87397559:G:A
Adipose Visceral Omentum	eqtl	8.8e-06	-0.75	6:87415529:A:G
Brain Hypothalamus	eqtl	1.4e-05	+0.27	6:87411276:C:G
Esophagus Muscularis	eqtl	1.7e-05	-0.84	6:87402351:T:C
Muscle Skeletal	eqtl	1.9e-05	-0.57	6:87454984:A:G
Brain Cerebellum	eqtl	2.4e-04	-0.43	6:87368175:T:C
Colon Sigmoid	eqtl	4.7e-04	-1.01	6:87419118:TTTG:T
Thyroid	eqtl	1.7e-03	-0.42	6:87419118:TTTG:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
68839	1.4491	466

Top tissues by expression

showing 100 of 115 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	92.70	gold quality
left testis	UBERON:0004533	89.59	gold quality
testis	UBERON:0000473	89.46	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.07	gold quality
right testis	UBERON:0004534	88.63	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.03	gold quality
fallopian tube	UBERON:0003889	74.89	gold quality
hypothalamus	UBERON:0001898	63.61	gold quality
ventricular zone	UBERON:0003053	62.59	gold quality
endometrium	UBERON:0001295	61.86	gold quality
adenohypophysis	UBERON:0002196	60.78	gold quality
pituitary gland	UBERON:0000007	60.57	gold quality
Ammon’s horn	UBERON:0001954	59.87	gold quality
superior frontal gyrus	UBERON:0002661	59.69	gold quality
caudate nucleus	UBERON:0001873	59.13	gold quality
right adrenal gland cortex	UBERON:0035827	58.98	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	57.51	gold quality
Brodmann (1909) area 9	UBERON:0013540	57.49	gold quality
right adrenal gland	UBERON:0001233	57.44	gold quality
adult mammalian kidney	UBERON:0000082	57.33	gold quality
cerebral cortex	UBERON:0000956	56.74	gold quality
right lung	UBERON:0002167	56.57	gold quality
amygdala	UBERON:0001876	56.49	gold quality
temporal lobe	UBERON:0001871	56.08	gold quality
cortex of kidney	UBERON:0001225	56.01	gold quality
prefrontal cortex	UBERON:0000451	55.94	gold quality
kidney	UBERON:0002113	55.88	gold quality
anterior cingulate cortex	UBERON:0009835	55.81	gold quality
thyroid gland	UBERON:0002046	55.55	gold quality
frontal cortex	UBERON:0001870	55.42	gold quality
islet of Langerhans	UBERON:0000006	55.24	gold quality
left lobe of thyroid gland	UBERON:0001120	55.21	gold quality
primary visual cortex	UBERON:0002436	55.01	gold quality
endocervix	UBERON:0000458	54.58	gold quality
metanephros cortex	UBERON:0010533	54.32	gold quality
brain	UBERON:0000955	54.28	gold quality
nucleus accumbens	UBERON:0001882	54.28	gold quality
right frontal lobe	UBERON:0002810	54.12	gold quality
left adrenal gland	UBERON:0001234	54.08	gold quality
right lobe of thyroid gland	UBERON:0001119	53.78	gold quality
substantia nigra	UBERON:0002038	53.77	gold quality
sural nerve	UBERON:0015488	53.64	gold quality
stromal cell of endometrium	CL:0002255	53.61	gold quality
left uterine tube	UBERON:0001303	53.46	gold quality
gall bladder	UBERON:0002110	52.49	gold quality
adrenal gland	UBERON:0002369	51.95	gold quality
corpus callosum	UBERON:0002336	51.76	gold quality
lung	UBERON:0002048	51.71	gold quality
left adrenal gland cortex	UBERON:0035825	51.61	gold quality
cortical plate	UBERON:0005343	50.16	gold quality
smooth muscle tissue	UBERON:0001135	50.10	gold quality
putamen	UBERON:0001874	49.52	gold quality
prostate gland	UBERON:0002367	48.21	gold quality
urinary bladder	UBERON:0001255	46.81	gold quality
upper lobe of left lung	UBERON:0008952	46.52	gold quality
right coronary artery	UBERON:0001625	44.86	gold quality
pancreas	UBERON:0001264	44.74	gold quality
material anatomical entity	UBERON:0000465	44.71	gold quality
multicellular organism	UBERON:0000468	44.71	gold quality
anatomical system	UBERON:0000467	44.65	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	44.27	gold quality
ganglionic eminence	UBERON:0004023	44.17	silver quality
myometrium	UBERON:0001296	43.78	gold quality
uterine cervix	UBERON:0000002	43.39	gold quality
placenta	UBERON:0001987	43.04	gold quality
popliteal artery	UBERON:0002250	42.91	silver quality
tibial artery	UBERON:0007610	42.89	silver quality
right atrium auricular region	UBERON:0006631	42.80	gold quality
hindlimb stylopod muscle	UBERON:0004252	42.74	gold quality
muscle tissue	UBERON:0002385	42.01	gold quality
left coronary artery	UBERON:0001626	41.89	gold quality
heart	UBERON:0000948	41.71	gold quality
thoracic mammary gland	UBERON:0005200	41.34	gold quality
lower esophagus mucosa	UBERON:0035834	41.06	silver quality
bone marrow cell	CL:0002092	41.00	gold quality
heart left ventricle	UBERON:0002084	40.87	silver quality
granulocyte	CL:0000094	40.62	gold quality
bone marrow	UBERON:0002371	40.31	gold quality
vermiform appendix	UBERON:0001154	40.30	silver quality
tibial nerve	UBERON:0001323	40.23	gold quality
right hemisphere of cerebellum	UBERON:0014890	39.88	gold quality
cerebellum	UBERON:0002037	39.64	gold quality
descending thoracic aorta	UBERON:0002345	39.61	silver quality
cerebellar cortex	UBERON:0002129	39.50	gold quality
calcaneal tendon	UBERON:0003701	39.38	gold quality
cerebellar hemisphere	UBERON:0002245	39.30	gold quality
blood	UBERON:0000178	39.25	gold quality
muscle of leg	UBERON:0001383	39.10	gold quality
gastrocnemius	UBERON:0001388	38.82	gold quality
subcutaneous adipose tissue	UBERON:0002190	38.80	silver quality
thoracic aorta	UBERON:0001515	38.69	silver quality
skin of leg	UBERON:0001511	38.41	gold quality
ascending aorta	UBERON:0001496	38.31	silver quality
lower esophagus	UBERON:0013473	38.21	silver quality
lower esophagus muscularis layer	UBERON:0035833	38.13	silver quality
adipose tissue	UBERON:0001013	38.06	silver quality
zone of skin	UBERON:0000014	37.82	gold quality
ovary	UBERON:0000992	37.77	gold quality
omental fat pad	UBERON:0010414	37.26	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	7.08
E-ANND-3	yes	6.27

HPA expression

RNA tissue specificity: Group enriched

showing 60 of 61 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Testis	tissue	55.2	low
Fallopian tube	tissue	21.0	high
Choroid plexus	tissue	8.9	medium
Periaqueductal gray	tissue	7.1
Basal ganglia	tissue	5.6	not detected
Olfactory bulb	tissue	4.7
Septum	tissue	4.4
Hippocampal formation	tissue	4.1
Ventral forebrain	tissue	4.0
Amygdala	tissue	3.9
Entorhinal cortex	tissue	3.9
Putamen	tissue	3.8
Hypothalamus	tissue	3.8
Cerebral cortex	tissue	3.7	not detected
Retrosplenial and cingulate cortex	tissue	3.7
Temporal cortex	tissue	3.7
Insular cortex	tissue	3.7
Pons	tissue	3.6
Superior colliculi	tissue	3.5
Occipital cortex	tissue	3.5
Prefrontal cortex	tissue	3.4
Somatosensory cortex	tissue	3.3
Retrosplenial cortex	tissue	3.3
Motor cortex	tissue	3.2
Medulla oblongata	tissue	3.2
Cerebellum	tissue	3.2	not detected
Midbrain	tissue	3.1
Thalamus	tissue	3.0
Corpus callosum	tissue	3.0
Substantia nigra	tissue	2.7
Spinal cord	tissue	2.4
Caudate putamen	tissue	1.9
Lung	tissue	1.4	not detected
Locus coeruleus	tissue	1.4
Thyroid gland	tissue	1.3	not detected
Frontal cortex	tissue	1.2
Pituitary gland	tissue	1.1
Nucleus accumbens	tissue	1.0
Postcentral gyrus	tissue	0.9
Kidney	tissue	0.8	not detected
Hippocampus	tissue	0.8	not detected
Parathyroid gland	tissue	0.7	not detected
Cervix	tissue	0.6	not detected
Retina	tissue	0.5
Endometrium 1	tissue	0.5	not detected
Epididymis	tissue	0.5	not detected
Seminal vesicle	tissue	0.3	not detected
Breast	tissue	0.2	not detected
Prostate	tissue	0.2	not detected
Ovary	tissue	0.1	not detected
Salivary gland	tissue	0.1	not detected
Smooth muscle	tissue	0.1	not detected
Urinary bladder	tissue	0.1	not detected
Tongue	tissue	0.1
Placenta	tissue	0.1	not detected
Gallbladder	tissue	0.1	not detected
Adrenal gland	tissue	0.1	not detected
Heart muscle	tissue	0.0	low
Skeletal muscle	tissue	0.0	low
Nasopharynx	tissue	-1.0	low

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Periaquaductal grey, lateral (5.3), Nucleus tractus solitarii (4.4), Dorsal hippocampus (4.1), Ventral hippocampus (4.1), Periaquaductal grey, dorsal (3.6).

Regulation

Is transcription factor: no

Functional genomics

gnomAD constraint: pLI 7.64e-10, LOEUF 0.992, missense Z 1.46 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000369562 — one region, missense o/e 0.88.

Literature-anchored findings (GeneRIF, showing 1)

• Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse. (PMID:34255152)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap206	ENSDARG00000021997
mus_musculus	Cfap206	ENSMUSG00000028294
rattus_norvegicus	Cfap206	ENSRNOG00000009061
drosophila_melanogaster	CG13436	FBGN0034532

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1916579) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 26 distinct phenotype terms.

Mouse phenotype (MP)	Records
male infertility	3
asthenozoospermia	2
kinked sperm flagellum	2
coiled sperm flagellum	2
abnormal brain ventricle morphology	1
cataract	1
hydrocephaly	1
female infertility	1
abnormal nasal cavity morphology	1
oligozoospermia	1
cerebral aqueductal stenosis	1
absent sperm flagellum	1
abnormal sperm flagellum morphology	1
short sperm flagellum	1
decreased fertilization frequency	1
abnormal preimplantation embryo development	1
abnormal sperm axoneme morphology	1
impaired mucociliary clearance	1
enlarged brain ventricles	1
dilated brain ventricle	1
brain ventricle stenosis	1
decreased sperm progressive motility	1
enlarged neurocranium	1
absent sperm axonemal central pair	1
abnormal outer dense fiber morphology	1

+1 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Macaca fascicularis	Q95JU3	98.6%	Diamond
Bos taurus	Q29RL1	85.4%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
LINC01590	ncRNA	63914
SLC35A1	protein-coding	10559
ORC3	protein-coding	23595
AKIRIN2	protein-coding	55122
RARS2	protein-coding	57038
GJB7	protein-coding	375519
SMIM8	protein-coding	57150
C6orf163	protein-coding	206412

Protein

Protein identifiers

Cilia- and flagella-associated protein 206 — Q8IYR0 (reviewed: Q8IYR0)

All UniProt accessions (3): D6R9L9, D6RBZ4, Q8IYR0

UniProt curated annotations — full annotation on UniProt →

Function. Essential for sperm motility and is involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract. Required for the establishment of radial spokes in sperm flagella.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Cilium basal body.

Tissue specificity. Highly expressed in testis.

Disease relevance. Spermatogenic failure 102 (SPGF102) [MIM:621387] An autosomal recessive, male infertility disorder characterized by reduced concentration of sperm, and immotile sperm due to multiple morphologic abnormalities of the flagella, including absent, short, coiled, and irregular-caliber flagella. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the CFAP206 family.

RefSeq proteins (1): NP_001026913* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021897	FAP206	Family

Pfam: PF12018

UniProt features (5 total): sequence variant 2, chain 1, region of interest 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYR0-F1	85.41	0.54

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 98 (showing top): chr6q15, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, 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

GO Biological Process (7): cilium movement (GO:0003341), regulation of cilium beat frequency (GO:0003356), sperm axoneme assembly (GO:0007288), flagellated sperm motility (GO:0030317), axoneme assembly (GO:0035082), regulation of flagellated sperm motility (GO:1901317), cell projection organization (GO:0030030)

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

GO Cellular Component (8): radial spoke (GO:0001534), cilium (GO:0005929), axoneme (GO:0005930), motile cilium (GO:0031514), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), 9+2 motile cilium (GO:0097729), A axonemal microtubule (GO:0097649)

GO top-level categories

35 GO namespaces:

Category	Terms
cilium	2
axonemal doublet microtubule	2
microtubule-based movement	1
regulation of cilium movement	1
developmental process involved in reproduction	1
axoneme assembly	1
sperm flagellum assembly	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
microtubule bundle formation	1
cellular component assembly	1
cilium assembly	1
flagellated sperm motility	1
regulation of cilium movement involved in cell motility	1
regulation of reproductive process	1
cellular component organization	1
binding	1
axoneme	1
protein-containing complex	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cellular anatomical structure	1
microtubule organizing center	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 microtubule	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 16 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
sperm axoneme assembly	BP	mutant phenotype

Protein interactions and networks

STRING

showing 15 of 684 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP206	CFAP61	Q8NHU2	603
CFAP206	CFAP58	Q5T655	591
CFAP206	CFAP251	Q8TBY9	571
CFAP206	CFAP91	Q7Z4T9	570
CFAP206	CFAP43	Q8NDM7	537
CFAP206	CFAP70	Q5T0N1	533
CFAP206	BBOF1	Q8ND07	530
CFAP206	DNAH1	Q9P2D7	513
CFAP206	SPEF2	Q9C093	512
CFAP206	CFAP44	Q96MT7	510
CFAP206	QRICH2	Q9H0J4	498
CFAP206	SAXO2	Q658L1	495
CFAP206	TBC1D30	Q9Y2I9	473
CFAP206	RSPH9	Q9H1X1	470
CFAP206	CFAP69	A5D8W1	469

IntAct

Human interaction partners of CFAP206 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 60 partners by confidence:

Partner	Interaction type	MIscore	Records
ADAMTSL4	physical association	0.720	6
GPRASP2	physical association	0.720	6
KRT40	physical association	0.720	6
UBXN11	physical association	0.670	7
C1orf94	physical association	0.670	4
SOX30	physical association	0.670	4
TFIP11	physical association	0.670	4
BANP	physical association	0.560	6
ANKRD55	physical association	0.560	3
APIP	physical association	0.560	3
ATPAF2	physical association	0.560	3
BLZF1	physical association	0.560	3
C9orf153	physical association	0.560	3
CDX2	physical association	0.560	3
CEP57L1	physical association	0.560	3
CFP	physical association	0.560	3
CPSF7	physical association	0.560	3
CRX	physical association	0.560	3
CYSRT1	physical association	0.560	3
DISC1	physical association	0.560	3
EIF4ENIF1	physical association	0.560	3
GFAP	physical association	0.560	3
GLYR1	physical association	0.560	3
GSE1	physical association	0.560	3
IHO1	physical association	0.560	3
IKZF3	physical association	0.560	3
KIAA1328	physical association	0.560	3
KLHL3	physical association	0.560	3
KRT31	physical association	0.560	3
KRT34	physical association	0.560	3

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 60 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the cornified envelope	5	14.2×	2e-03
Keratinization	6	10.8×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
intermediate filament organization	6	28.3×	2e-05

Disease & clinical

Genetic variants

Variant evidence for CFAP206: 97 ClinVar records (2 pathogenic / likely pathogenic); 3 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	77
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Showing all 2 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1027670	NM_001031743.3(CFAP206):c.1430dup (p.Asn477fs)	Pathogenic	no assertion criteria provided	1
4294322	NM_001031743.3(CFAP206):c.1430del (p.Asn477fs)	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore CFAP206’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 41 predictions of 1,305):

Position(s)	Effect	Δscore	Sites
6:87409948–87409949	donor_loss	1.0000	5
6:87410583–87410584	acceptor_loss	1.0000	4
6:87410669–87410670	donor_loss	1.0000	5
6:87416656–87416657	acceptor_gain	1.0000	2
6:87416667–87416668	acceptor_loss	1.0000	6
6:87426523	acceptor_gain	1.0000
6:87426524–87426525	acceptor_loss	1.0000	6
6:87426646–87426647	donor_loss	1.0000	5
6:87408876	donor_gain	0.9900
6:87409833–87409834	acceptor_loss	0.9900	6

AlphaMissense

865 missense substitutions predicted likely pathogenic (of 4,109 scored), across 297 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F459	8	0.941	0.992
F323	8	0.922	0.975
F450	8	0.902	0.983
D378	8	0.861	0.962
F164	8	0.858	0.969
D88	8	0.746	0.837
C420	7	0.959	0.993
W330	7	0.956	0.992
F172	7	0.949	0.983
F48	7	0.944	0.989
F320	7	0.923	0.980
F35	7	0.907	0.985
M83	7	0.907	0.977
E155	7	0.906	0.959
F197	7	0.900	0.977
W537	7	0.897	0.964
F87	7	0.880	0.976
W400	7	0.873	0.987
W534	7	0.833	0.957
C66	7	0.803	0.987

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Uterine Corpus Endometrial Carcinoma)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:621387

GenCC curated gene-disease

Mondo (1): spermatogenic failure 102 (MONDO:0980708)

HPO phenotypes

9 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0003251	Male infertility
HP:0011462	Young adult onset
HP:0012208	Immotile sperm
HP:0032558	Absent sperm flagella
HP:0032559	Short sperm flagella
HP:0032560	Coiled sperm flagella
HP:0032562	Tapered sperm head
HP:0033393	Irregularly shaped sperm tail

GWAS associations

3 associations:

Study	Trait	p-value
GCST90002394_482	Monocyte percentage of white cells	2e-23
GCST004609_23	Monocyte percentage of white cells	1e-9
GCST004865_34	Itch intensity from mosquito bite adjusted by bite size	9e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0007989	monocyte percentage of leukocytes
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	2
bisphenol A	increases methylation	1
perfluorooctane sulfonic acid	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Air Pollutants	increases abundance, increases expression	1
Estradiol	decreases expression	1
Melphalan	decreases expression	1
Rotenone	decreases expression	1
Smoke	increases expression, increases abundance	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.