CFAP70

Summary

CFAP70 (cilia and flagella associated protein 70, HGNC:30726) is a protein-coding gene on chromosome 10q22.2, encoding Cilia- and flagella-associated protein 70 (Q5T0N1). Axoneme-binding protein that plays a role in the regulation of ciliary motility and cilium length.

Predicted to be involved in cilium assembly and cilium movement. Predicted to act upstream of or within several processes, including maintenance of cell number; single fertilization; and spermatid development. Located in ciliary basal body and sperm flagellum. Part of outer dynein arm. Implicated in spermatogenic failure 41.

Source: NCBI Gene 118491 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Gene–disease (curated): non-syndromic male infertility due to sperm motility disorder (Supportive, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 127 total — 1 pathogenic
• GTEx eGene: eQTL in 49 tissues, sQTL in 25 (q < 0.05)
• Phenotypes (HPO): 6
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.75 (unconstrained)
• MANE Select transcript: NM_001367801
• Notable: 127 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30726
Approved symbol	CFAP70
Name	cilia and flagella associated protein 70
Location	10q22.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25765
Ensembl gene	ENSG00000156042
Ensembl biotype	protein_coding
OMIM	618661
Entrez	118491

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

MANE Select: ENST00000355577

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 2: 3, TSL 5: 5

ENST00000355577, ENST00000310715, ENST00000340329, ENST00000394865, ENST00000433268, ENST00000462684, ENST00000493787, ENST00000495161, ENST00000686590, ENST00000691223, ENST00001130115, ENST00001136139

RefSeq mRNA: 3 — MANE Select: NM_001367801 NM_001350933, NM_001350934, NM_001367801

CCDS: CCDS91262, CCDS91263, CCDS91264

Canonical transcript exons

ENST00000355577 — 28 exons

Exon	Start	End
ENSE00002323865	73358778	73358864
ENSE00003375320	73297042	73297173
ENSE00003441020	73293263	73293388
ENSE00003468280	73348156	73348235
ENSE00003473994	73253762	73254055
ENSE00003483978	73348423	73348521
ENSE00003489427	73291640	73291755
ENSE00003506767	73311834	73311914
ENSE00003510066	73310158	73310249
ENSE00003521973	73277240	73277361
ENSE00003523237	73354734	73354835
ENSE00003528355	73291226	73291444
ENSE00003528483	73341399	73341581
ENSE00003533030	73353556	73353742
ENSE00003533234	73298907	73299101
ENSE00003535097	73272928	73273017
ENSE00003545409	73312473	73312643
ENSE00003561677	73291881	73292014
ENSE00003578957	73278179	73278337
ENSE00003591628	73275446	73275598
ENSE00003607290	73274433	73274594
ENSE00003623994	73299605	73299665
ENSE00003624024	73345065	73345244
ENSE00003637865	73269614	73269715
ENSE00003666564	73331177	73331276
ENSE00003672682	73322963	73323097
ENSE00003679341	73256369	73256416
ENSE00003689194	73335430	73335524

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 99.47.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3238 / max 68.7957, expressed in 531 samples.

Highest expression (Bgee): uterine tube, bronchial epithelial cell, bronchus, mucosa of paranasal sinus, caput epididymis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFAP70 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 49 tissues and its splicing (sQTL) in 25 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 74 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Thyroid	eqtl	5.6e-61	-0.61	10:73197081:G:A
Nerve Tibial	eqtl	7.0e-61	-0.67	10:73197081:G:A
Thyroid	sqtl	4.6e-54	+1.34	10:73236315:G:C
Skin Sun Exposed Lower leg	eqtl	5.1e-45	-0.61	10:73298558:C:T
Skin Not Sun Exposed Suprapubic	eqtl	2.1e-40	-0.66	10:73373192:A:G
Esophagus Muscularis	eqtl	3.1e-40	-0.64	10:73298558:C:T
Cells Cultured fibroblasts	eqtl	9.0e-37	-0.73	10:73482470:A:G
Esophagus Mucosa	eqtl	1.0e-36	-0.66	10:73199486:A:G
Adipose Visceral Omentum	eqtl	1.1e-34	-0.58	10:73412098:A:G
Adipose Subcutaneous	eqtl	1.7e-33	-0.55	10:73372795:C:G
Esophagus Gastroesophageal Junction	eqtl	2.2e-33	-0.74	10:73197081:G:A
Breast Mammary Tissue	eqtl	4.1e-30	-0.48	10:73199486:A:G
Artery Tibial	eqtl	4.7e-30	-0.52	10:73276536:C:G
Colon Transverse	eqtl	3.7e-29	-0.70	10:73197081:G:A
Pancreas	eqtl	5.6e-26	-0.62	10:73197081:G:A
Stomach	eqtl	2.6e-25	-0.53	10:73373192:A:G
Prostate	eqtl	3.1e-23	-0.87	10:73353869:T:C
Spleen	eqtl	4.8e-23	-0.74	10:73298558:C:T
Pituitary	eqtl	7.6e-22	-0.83	10:73197081:G:A
Pituitary	sqtl	2.2e-21	+1.61	10:73327421:C:A

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
110049	1.2455	520
110050	0.0783	44

Top tissues by expression

showing 100 of 245 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.47	gold quality
bronchial epithelial cell	CL:0002328	99.31	gold quality
bronchus	UBERON:0002185	98.41	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.98	gold quality
caput epididymis	UBERON:0004358	95.01	gold quality
oviduct epithelium	UBERON:0004804	92.81	gold quality
adenohypophysis	UBERON:0002196	92.76	gold quality
pituitary gland	UBERON:0000007	92.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.43	gold quality
left testis	UBERON:0004533	91.21	gold quality
right testis	UBERON:0004534	91.20	gold quality
testis	UBERON:0000473	89.35	gold quality
fallopian tube	UBERON:0003889	88.33	gold quality
sperm	CL:0000019	88.27	gold quality
corpus epididymis	UBERON:0004359	87.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.06	gold quality
thyroid gland	UBERON:0002046	85.67	gold quality
left lobe of thyroid gland	UBERON:0001120	85.05	gold quality
epithelium of nasopharynx	UBERON:0001951	84.71	gold quality
nasal cavity epithelium	UBERON:0005384	84.61	gold quality
right lobe of thyroid gland	UBERON:0001119	84.29	gold quality
pancreatic ductal cell	CL:0002079	83.35	silver quality
right adrenal gland cortex	UBERON:0035827	82.93	gold quality
right adrenal gland	UBERON:0001233	82.55	gold quality
left adrenal gland cortex	UBERON:0035825	82.42	gold quality
left adrenal gland	UBERON:0001234	81.97	gold quality
tibia	UBERON:0000979	81.82	gold quality
adrenal cortex	UBERON:0001235	81.82	gold quality
nasal cavity mucosa	UBERON:0001826	81.64	gold quality
caudate nucleus	UBERON:0001873	81.21	gold quality
hypothalamus	UBERON:0001898	81.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.98	gold quality
body of pancreas	UBERON:0001150	80.95	gold quality
right lung	UBERON:0002167	80.62	gold quality
metanephros cortex	UBERON:0010533	80.40	gold quality
cauda epididymis	UBERON:0004360	79.73	gold quality
amygdala	UBERON:0001876	79.57	gold quality
adrenal gland	UBERON:0002369	79.38	gold quality
renal medulla	UBERON:0000362	79.36	gold quality
nucleus accumbens	UBERON:0001882	79.17	gold quality
right lobe of liver	UBERON:0001114	78.69	gold quality
seminal vesicle	UBERON:0000998	78.65	gold quality
corpus callosum	UBERON:0002336	78.49	gold quality
endocervix	UBERON:0000458	78.21	gold quality
left uterine tube	UBERON:0001303	78.15	gold quality
epithelial cell of pancreas	CL:0000083	77.51	silver quality
sural nerve	UBERON:0015488	77.31	gold quality
peripheral nervous system	UBERON:0000010	77.26	gold quality
tibial nerve	UBERON:0001323	77.26	gold quality
kidney epithelium	UBERON:0004819	76.96	silver quality
prostate gland	UBERON:0002367	76.83	gold quality
putamen	UBERON:0001874	76.79	gold quality
left ovary	UBERON:0002119	76.72	gold quality
pancreas	UBERON:0001264	76.60	gold quality
apex of heart	UBERON:0002098	76.52	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.47	gold quality
adult mammalian kidney	UBERON:0000082	76.26	gold quality
cortex of kidney	UBERON:0001225	76.22	gold quality
minor salivary gland	UBERON:0001830	75.90	gold quality
spinal cord	UBERON:0002240	75.64	gold quality
Ammon’s horn	UBERON:0001954	75.42	gold quality
Brodmann (1909) area 9	UBERON:0013540	75.24	gold quality
anterior cingulate cortex	UBERON:0009835	75.23	gold quality
right frontal lobe	UBERON:0002810	75.16	gold quality
skin of abdomen	UBERON:0001416	75.02	gold quality
kidney	UBERON:0002113	74.90	gold quality
ovary	UBERON:0000992	74.76	gold quality
forebrain	UBERON:0001890	74.22	gold quality
trachea	UBERON:0003126	74.04	gold quality
skin of leg	UBERON:0001511	74.03	gold quality
upper arm skin	UBERON:0004263	73.71	gold quality
superior vestibular nucleus	UBERON:0007227	73.42	gold quality
brain	UBERON:0000955	73.39	gold quality
saliva-secreting gland	UBERON:0001044	73.38	gold quality
right ovary	UBERON:0002118	73.23	gold quality
cerebellar hemisphere	UBERON:0002245	73.19	gold quality
metanephros	UBERON:0000081	73.18	gold quality
endometrium	UBERON:0001295	73.16	gold quality
cerebellar cortex	UBERON:0002129	72.95	gold quality
right hemisphere of cerebellum	UBERON:0014890	72.78	gold quality
right atrium auricular region	UBERON:0006631	72.76	gold quality
zone of skin	UBERON:0000014	72.62	gold quality
upper lobe of left lung	UBERON:0008952	72.53	gold quality
pigmented layer of retina	UBERON:0001782	72.46	gold quality
body of stomach	UBERON:0001161	72.30	gold quality
mouth mucosa	UBERON:0003729	72.29	gold quality
substantia nigra	UBERON:0002038	72.23	gold quality
peritoneum	UBERON:0002358	72.19	gold quality
omental fat pad	UBERON:0010414	72.15	gold quality
upper lobe of lung	UBERON:0008948	72.13	gold quality
subcutaneous adipose tissue	UBERON:0002190	72.10	gold quality
adipose tissue of abdominal region	UBERON:0007808	71.98	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	71.95	gold quality
primary visual cortex	UBERON:0002436	71.92	gold quality
skin of hip	UBERON:0001554	71.69	gold quality
cardiac atrium	UBERON:0002081	71.63	gold quality
cerebellum	UBERON:0002037	71.61	gold quality
islet of Langerhans	UBERON:0000006	71.55	gold quality
Brodmann (1909) area 23	UBERON:0013554	71.55	gold quality
gall bladder	UBERON:0002110	71.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-130148	yes	11.72
E-ANND-3	yes	10.15

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	41.7
Testis	tissue	18.6	low
Periaqueductal gray	tissue	15.2
Fallopian tube	tissue	13.4	high
Pituitary gland	tissue	13.0
Epididymis	tissue	10.5	not detected
Basal ganglia	tissue	9.7	not detected
Retina	tissue	9.6
Amygdala	tissue	8.7
Septum	tissue	8.0
Hippocampal formation	tissue	7.8
Hypothalamus	tissue	7.7
Cerebral cortex	tissue	7.2	not detected
Insular cortex	tissue	7.2
Ventral forebrain	tissue	6.9
Pons	tissue	6.7
Putamen	tissue	6.5
Retrosplenial cortex	tissue	6.5
Retrosplenial and cingulate cortex	tissue	6.4
Prefrontal cortex	tissue	6.0
Corpus callosum	tissue	6.0
Temporal cortex	tissue	6.0
Entorhinal cortex	tissue	5.9
Motor cortex	tissue	5.8
Cerebellum	tissue	5.4	not detected
Medulla oblongata	tissue	5.2
Occipital cortex	tissue	5.2
Midbrain	tissue	5.0
Substantia nigra	tissue	5.0
Thalamus	tissue	4.9
Olfactory bulb	tissue	4.9
Somatosensory cortex	tissue	4.8
Locus coeruleus	tissue	4.5
Spinal cord	tissue	4.0
Parathyroid gland	tissue	3.9	not detected
Superior colliculi	tissue	3.9
Nucleus accumbens	tissue	3.8
Thyroid gland	tissue	3.7	not detected
Hippocampus	tissue	3.6	not detected
Postcentral gyrus	tissue	3.1
Breast	tissue	2.8	not detected
Skin 1	tissue	2.5	not detected
Adrenal gland	tissue	2.5	low
Lung	tissue	2.3	medium
Kidney	tissue	2.2	not detected
Salivary gland	tissue	2.1	not detected
Seminal vesicle	tissue	1.7	not detected
Pancreas	tissue	1.7	not detected
Cervix	tissue	1.6	not detected
Ovary	tissue	1.6	not detected
Prostate	tissue	1.6	not detected
Adipose tissue	tissue	1.2	not detected
Endometrium 1	tissue	1.2	medium
Liver	tissue	1.2	not detected
Gallbladder	tissue	1.2	not detected
Stomach 1	tissue	1.1	not detected
Vagina	tissue	0.9	not detected
Heart muscle	tissue	0.8	not detected
Lymph node	tissue	0.7	not detected
Skeletal muscle	tissue	0.7	not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Periaquaductal grey, lateral (20.9), Nucleus tractus solitarii (15.8), Periaquaductal grey, dorsal (13.7), Superior vestibular nucleus (13.1), Cervical spinal cord, central gray (12.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CFAP70 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

11 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-326	98.25	66.44	1565
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-7973	96.48	65.54	502
HSA-MIR-6808-3P	94.13	65.24	516

Functional genomics

gnomAD constraint: pLI 7.51e-14, LOEUF 0.75, missense Z 2.77 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000310715 — one region, missense o/e 0.80.

Literature-anchored findings (GeneRIF, showing 1)

• CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report. (PMID:31621862)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap70	ENSDARG00000058508
mus_musculus	Cfap70	ENSMUSG00000039543
rattus_norvegicus	Cfap70	ENSRNOG00000007046

Paralogs (14): IFT88 (ENSG00000032742), TTC7A (ENSG00000068724), TMTC4 (ENSG00000125247), TMTC1 (ENSG00000133687), TMTC3 (ENSG00000139324), TTC6 (ENSG00000139865), BBS4 (ENSG00000140463), TTC13 (ENSG00000143643), OGT (ENSG00000147162), TTC8 (ENSG00000165533), TTC7B (ENSG00000165914), TTC16 (ENSG00000167094), TMTC2 (ENSG00000179104), TTC34 (ENSG00000215912)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1923920) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 16 distinct phenotype terms.

Mouse phenotype (MP)	Records
domed cranium	1
hydrocephaly	1
male infertility	1
asthenozoospermia	1
oligozoospermia	1
absent sperm flagellum	1
abnormal sperm flagellum morphology	1
coiled sperm flagellum	1
short sperm flagellum	1
abnormal sperm axoneme morphology	1
abnormal brain ependyma motile cilium morphology	1
postnatal lethality, incomplete penetrance	1
enlarged brain ventricles	1
decreased brain ependyma motile cilium number	1
absent sperm axonemal central pair	1
abnormal outer dense fiber morphology	1

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	Q95LN2	85.5%	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
PPP3CB-AS1	ncRNA	101929145
MSS51	protein-coding	118490
ANXA7	protein-coding	310
PPP3CB	protein-coding	5532
DNAJC9	protein-coding	23234
FAM149B1	protein-coding	317662
DNAJC9-AS1	ncRNA	414245
MRPS16	protein-coding	51021
SNORA11F	snoRNA	109617000
ECD	protein-coding	11319
NUDT13	protein-coding	25961

Protein

Protein identifiers

Cilia- and flagella-associated protein 70 — Q5T0N1 (reviewed: Q5T0N1)

Alternative names: Tetratricopeptide repeat protein 18

All UniProt accessions (7): A0A087WSW1, A0A0A0MS55, A0A8I5KZ08, A0A8J8YUN0, Q5T0N1, X6R507, X6RID7

UniProt curated annotations — full annotation on UniProt →

Function. Axoneme-binding protein that plays a role in the regulation of ciliary motility and cilium length. Essential for the assembly of the sperm flagellum and the correct shaping of the sperm head, during spermiogenesis.Contributes in part to flagellar biogenesis by stabilizing QRICH2, promoting the cytoplasmic preassembly of CFAP61 and CFAP91, and regulating the manchette localization of axoneme-associated proteins such as IFT88, DNAI1 and CFAP61.

Subunit / interactions. Interacts with MYCBPAP, CFAP65, DNAI1, DNAI2, QRICH2, CFAP61 and CFAP91.

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

Tissue specificity. Expressed in testis.

Disease relevance. Spermatogenic failure 41 (SPGF41) [MIM:618670] An autosomal recessive infertility disorder characterized by oligozoospermia, severe asthenozoospermia and flagellar abnormalities such as short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The conserved TPR domains are dispensable for ciliary targeting. The N-terminal half is important for cilary localization and/or binding to the axoneme.

Similarity. Belongs to the CFAP70 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q5T0N1-1	1	yes
Q5T0N1-2	2
Q5T0N1-3	3
Q5T0N1-6	4
Q5T0N1-7	5

RefSeq proteins (3): NP_001337862, NP_001337863, NP_001354730* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR052628	CFAP70	Family

Pfam: PF13181

UniProt features (24 total): repeat 8, splice variant 4, sequence variant 4, region of interest 3, sequence conflict 3, chain 1, compositionally biased region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T0N1-F1	76.55	0.40

Human Protein Atlas

Protein class: Predicted intracellular proteins, Human disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): basal body; centrosome; cytosol; end piece; mid piece; principal piece

Antibody reliability (HPA): IH enhanced · IF 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: 91 (showing top): GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_ORGANELLE_ASSEMBLY, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, RFX1_02, GOBP_CELL_PROJECTION_ORGANIZATION, TGGAAA_NFAT_Q4_01, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_DYNEIN_COMPLEX, GOCC_CILIUM, GOCC_AXONEMAL_DYNEIN_COMPLEX, GOCC_CILIARY_BASAL_BODY, DODD_NASOPHARYNGEAL_CARCINOMA_DN

GO Biological Process (4): cilium movement (GO:0003341), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), cilium assembly (GO:0060271)

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

GO Cellular Component (7): axoneme (GO:0005930), motile cilium (GO:0031514), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), outer dynein arm (GO:0036157), extracellular exosome (GO:0070062), cilium (GO:0005929)

GO top-level categories

25 GO namespaces:

Category	Terms
cilium	2
microtubule-based movement	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
binding	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cellular anatomical structure	1
microtubule organizing center	1
9+2 motile cilium	1
axonemal dynein complex	1
extracellular vesicle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 12 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO term	NS	Evidence
ciliary basal body	CC	direct assay
extracellular exosome	CC	high-throughput assay
outer dynein arm	CC	direct assay
sperm flagellum	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 1,133 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP70	CFAP43	Q8NDM7	750
CFAP70	CFAP44	Q96MT7	730
CFAP70	TTC21A	Q8NDW8	711
CFAP70	TTC29	Q8NA56	700
CFAP70	CFAP251	Q8TBY9	687
CFAP70	QRICH2	Q9H0J4	685
CFAP70	CFAP69	A5D8W1	683
CFAP70	CFAP65	Q6ZU64	669
CFAP70	CFAP58	Q5T655	668
CFAP70	ARMC2	Q8NEN0	661
CFAP70	CFAP61	Q8NHU2	658
CFAP70	DNAH1	Q9P2D7	658
CFAP70	CFAP91	Q7Z4T9	635
CFAP70	DNAH2	Q9P225	629
CFAP70	CFAP47	Q6ZTR5	614

IntAct

Human interaction partners of CFAP70 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
ECE1	physical association	0.370	1

BioGRID (8 interactions; top human partners by supporting records): HSP90AA1 (Cross-Linking-MS (XL-MS); 2 records), KRAS (Negative Genetic), OBSL1 (Affinity Capture-MS), PARP3 (Proximity Label-MS), SETD3 (Affinity Capture-MS), SUCLG2 (Affinity Capture-MS), TRIM21 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for CFAP70: 127 ClinVar records (1 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	102
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Showing all 1 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
694584	NM_001367801.1(CFAP70):c.1723-1G>T	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore CFAP70’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.

AlphaMissense

1,629 missense substitutions predicted likely pathogenic (of 7,339 scored), across 526 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
D110	8	0.916	0.960
H339	8	0.835	0.968
F726	8	0.733	0.948
W281	7	0.981	0.998
W230	7	0.973	0.992
E310	7	0.954	0.971
W1070	7	0.950	0.993
W740	7	0.943	0.989
W1036	7	0.927	0.988
D282	7	0.923	0.968
F361	7	0.921	0.985
R269	7	0.920	0.994
F896	7	0.915	0.972
F210	7	0.895	0.975
W966	7	0.893	0.986
F60	7	0.881	0.962
E644	7	0.881	0.955
E174	7	0.872	0.944
F692	7	0.857	0.959
F992	7	0.841	0.956

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:618661 | disease phenotypes: MIM:618670

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
non-syndromic male infertility due to sperm motility disorder	Supportive	Autosomal recessive

Mondo (2): spermatogenic failure 41 (MONDO:0032863), (MONDO:0017173)

HPO phenotypes

6 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000798	Oligozoospermia
HP:0003251	Male infertility
HP:0012208	Immotile sperm
HP:0032559	Short sperm flagella
HP:0032562	Tapered sperm head

GWAS associations

1 associations:

Study	Trait	p-value
GCST90002386_432	High light scatter reticulocyte percentage of red cells	1e-9

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation, affects methylation	3
Nickel	decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	increases methylation	1
2,3-pentanedione	decreases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
NSC 689534	affects binding, increases expression	1
Sunitinib	increases expression	1
Arbutin	decreases expression	1
Copper	affects binding, increases expression	1
Diacetyl	decreases expression	1
Estradiol	decreases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Methapyrilene	increases methylation	1
N-Nitrosopyrrolidine	decreases expression	1
Niclosamide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
S-Nitrosoglutathione	decreases expression	1

Clinical trials (associated diseases)

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