CFAP68

Summary

CFAP68 (cilia and flagella associated protein 68, HGNC:1163) is a protein-coding gene on chromosome 11q23.1, encoding Cilia- and flagella-associated protein 68 (Q9H5F2). 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 axoneme and nucleoplasm.

Source: NCBI Gene 64776 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 10 total
• MANE Select transcript: NM_022761

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1163
Approved symbol	CFAP68
Name	cilia and flagella associated protein 68
Location	11q23.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23499
Ensembl gene	ENSG00000137720
Ensembl biotype	protein_coding
Entrez	64776

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000260276, ENST00000528125, ENST00000529270, ENST00000530214, ENST00000530799

RefSeq mRNA: 2 — MANE Select: NM_022761 NM_001330371, NM_022761

CCDS: CCDS81625, CCDS8350

Canonical transcript exons

ENST00000260276 — 4 exons

Exon	Start	End
ENSE00000930521	111883136	111883202
ENSE00001408509	111883771	111885975
ENSE00002182218	111879541	111879605
ENSE00003463349	111882368	111882598

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 95.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.8470 / max 842.5898, expressed in 1817 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116641	26.1307	1804
116636	2.5973	1298
116639	1.3765	674
116637	0.4138	197
116640	0.2854	145
116638	0.0432	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.77	gold quality
left testis	UBERON:0004533	95.02	gold quality
right testis	UBERON:0004534	94.97	gold quality
body of pancreas	UBERON:0001150	94.00	gold quality
nucleus accumbens	UBERON:0001882	93.67	gold quality
testis	UBERON:0000473	93.35	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.14	gold quality
caudate nucleus	UBERON:0001873	92.75	gold quality
right adrenal gland	UBERON:0001233	92.73	gold quality
left adrenal gland	UBERON:0001234	92.51	gold quality
left adrenal gland cortex	UBERON:0035825	92.47	gold quality
male germ cell	CL:0000015	92.33	gold quality
putamen	UBERON:0001874	92.05	gold quality
right adrenal gland cortex	UBERON:0035827	92.04	gold quality
adrenal cortex	UBERON:0001235	91.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.40	gold quality
pancreas	UBERON:0001264	91.30	gold quality
right atrium auricular region	UBERON:0006631	91.08	gold quality
metanephros cortex	UBERON:0010533	91.06	gold quality
islet of Langerhans	UBERON:0000006	91.01	gold quality
skin of abdomen	UBERON:0001416	90.75	gold quality
adrenal gland	UBERON:0002369	90.75	gold quality
body of stomach	UBERON:0001161	90.65	gold quality
corpus epididymis	UBERON:0004359	90.58	gold quality
rectum	UBERON:0001052	90.43	gold quality
adenohypophysis	UBERON:0002196	90.31	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.99	gold quality
amygdala	UBERON:0001876	89.77	gold quality
spinal cord	UBERON:0002240	89.71	gold quality
adult organism	UBERON:0007023	89.60	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.49
E-MTAB-7303	no	588.91
E-GEOD-36552	no	54.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting CFAP68, 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-4789-5P	99.98	70.76	2721
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-4764-5P	98.88	65.53	894
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-6794-3P	98.76	66.99	894
HSA-MIR-4718	98.55	68.61	814
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-619-3P	98.38	65.58	693
HSA-MIR-490-3P	97.79	65.54	606
HSA-MIR-4693-5P	97.35	67.02	1234
HSA-MIR-514A-5P	96.94	65.49	801
HSA-MIR-3156-5P	96.93	67.36	800
HSA-MIR-4793-5P	96.88	65.90	872
HSA-MIR-610	96.84	67.98	905
HSA-MIR-7161-3P	96.79	68.79	798
HSA-MIR-4693-3P	95.23	65.92	735

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap68	ENSDARG00000101743
mus_musculus	Cfap68	ENSMUSG00000037971
rattus_norvegicus	Cfap68	ENSRNOG00000030962

Protein

Protein identifiers

Cilia- and flagella-associated protein 68 — Q9H5F2 (reviewed: Q9H5F2)

All UniProt accessions (5): Q9H5F2, E9PLN1, E9PMC1, E9PS33, E9PS93

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. Nucleus. Cell projection. Cilium.

Similarity. Belongs to the CFAP68 family.

RefSeq proteins (2): NP_001317300, NP_073598* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009524	CFAP68	Family
IPR037662	CFAP68/107	Family

Pfam: PF06608

UniProt features (6 total): sequence variant 3, region of interest 2, chain 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-Q9H5F2-F1	69.73	0.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 134 (showing top): CREBP1_Q2, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, E4F1_Q6, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, CUI_TCF21_TARGETS_2_DN, CREBP1_01, TGGAAA_NFAT_Q4_01, GOCC_CYTOPLASMIC_REGION, CREB_01, GOCC_MOTILE_CILIUM, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM

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

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

GO Cellular Component (10): nucleoplasm (GO:0005654), cilium (GO:0005929), axoneme (GO:0005930), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), nucleus (GO:0005634), 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	5
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
binding	1
nuclear lumen	1
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
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cilium	1

Protein interactions and networks

STRING

298 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP68	ZNF727	A8MUV8	576
CFAP68	TMEM161A	Q9NX61	502
CFAP68	ZBTB37	Q5TC79	447
CFAP68	SPRYD7	Q5W111	447
CFAP68	ZNF519	Q8TB69	447
CFAP68	FBXO46	Q6PJ61	445
CFAP68	ZNF273	Q14593	419
CFAP68	GZF1	Q9H116	393
CFAP68	KLHL29	Q96CT2	380
CFAP68	ZNF671	Q8TAW3	370
CFAP68	CHURC1	Q8WUH1	370
CFAP68	TSPAN17	Q96FV3	370
CFAP68	ASB6	Q9NWX5	367
CFAP68	ASB13	Q8WXK3	357
CFAP68	THOC7	Q6I9Y2	349

IntAct

119 interactions, top by confidence:

A	B	Type	Score
DTX2	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
ARMC7	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
ATPAF2	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
AGXT	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
PRKAB2	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
PRR35	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
HGS	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
ATG9A	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
COL8A1	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
KLHL38	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
HOXC8	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
CATSPER1	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
KRTAP13-2	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
CFAP68	ANKRD11	psi-mi:“MI:0915”(physical association)	0.560
TEKT4	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
PROP1	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
PITX1	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
HR	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
CFAP68	PLSCR4	psi-mi:“MI:0915”(physical association)	0.560
CFAP68	PEF1	psi-mi:“MI:0915”(physical association)	0.560
KANK2	CFAP68	psi-mi:“MI:0915”(physical association)	0.560
MYO15B	CFAP68	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (42): C11orf1 (Synthetic Lethality), SETDB1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid), C11orf1 (Two-hybrid)

ESM2 similar proteins: A0A087WRI3, A2BFC9, A2RRW4, A4QMS7, A6NJV1, A6NL82, A6QPC0, A6QQ68, A8E4X8, A8E5W8, A8QW39, A9JS51, D6REC4, F1P3Y5, G3X6E2, P0C875, Q0VB26, Q1MSJ5, Q2IA00, Q2T9Q3, Q2TA11, Q3UY96, Q494V2, Q497Q6, Q4KKZ1, Q4QR77, Q4R5Y0, Q4R8V8, Q5NC57, Q5ZIH9, Q6J272, Q6PII3, Q6ZQR2, Q6ZVS7, Q7Z4T9, Q8CFW7, Q8N1D5, Q8N6G2, Q8WW14, Q95LR0

Diamond homologs: Q2T9Q3, Q4R5Y0, Q9D131, Q9H5F2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

583 predictions. Top by Δscore:

Variant	Effect	Δscore
11:111878955:CGCTA:C	donor_loss	1.0000
11:111878956:GCTAC:G	donor_loss	1.0000
11:111878957:CTACC:C	donor_loss	1.0000
11:111878958:TAC:T	donor_loss	1.0000
11:111878959:AC:A	donor_loss	1.0000
11:111878960:CCTCG:C	donor_gain	1.0000
11:111882364:CCA:C	acceptor_loss	1.0000
11:111882366:A:AG	acceptor_gain	1.0000
11:111882367:G:GG	acceptor_gain	1.0000
11:111882367:GA:G	acceptor_gain	1.0000
11:111882367:GAGAC:G	acceptor_gain	1.0000
11:111882549:A:T	donor_gain	1.0000
11:111882594:CCCAG:C	donor_loss	1.0000
11:111882599:GT:G	donor_loss	1.0000
11:111882600:T:A	donor_loss	1.0000
11:111883203:G:GG	donor_gain	1.0000
11:111878957:CTA:C	donor_loss	0.9900
11:111878958:TACCT:T	donor_loss	0.9900
11:111878959:A:C	donor_loss	0.9900
11:111878988:C:CA	donor_gain	0.9900
11:111879356:G:GT	donor_gain	0.9900
11:111879356:G:T	donor_gain	0.9900
11:111882367:GAGA:G	acceptor_gain	0.9900
11:111882599:G:GG	donor_gain	0.9900
11:111883766:CTCAG:C	acceptor_loss	0.9900
11:111883767:TCA:T	acceptor_loss	0.9900
11:111883768:CA:C	acceptor_loss	0.9900
11:111883769:AGGAT:A	acceptor_loss	0.9900
11:111883770:G:T	acceptor_loss	0.9900
11:111878962:T:TA	donor_gain	0.9800

AlphaMissense

995 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:111882485:T:A	W55R	0.984
11:111882485:T:C	W55R	0.984
11:111882539:T:A	W73R	0.969
11:111882539:T:C	W73R	0.969
11:111882487:G:C	W55C	0.968
11:111882487:G:T	W55C	0.968
11:111882541:G:C	W73C	0.964
11:111882541:G:T	W73C	0.964
11:111882489:G:C	R56P	0.959
11:111883794:T:C	F123L	0.959
11:111883796:C:A	F123L	0.959
11:111883796:C:G	F123L	0.959
11:111882533:G:C	G71R	0.937
11:111882538:C:A	N72K	0.933
11:111882538:C:G	N72K	0.933
11:111883148:T:C	F97L	0.932
11:111883150:T:A	F97L	0.932
11:111883150:T:G	F97L	0.932
11:111882443:T:A	W41R	0.926
11:111882443:T:C	W41R	0.926
11:111882469:G:C	K49N	0.925
11:111882469:G:T	K49N	0.925
11:111882540:G:C	W73S	0.920
11:111882486:G:C	W55S	0.919
11:111882504:A:T	E61V	0.919
11:111882483:G:A	G54E	0.918
11:111882534:G:T	G71V	0.911
11:111882546:A:C	Q75P	0.911
11:111883136:T:C	F93L	0.907
11:111883138:T:A	F93L	0.907

dbSNP variants (sampled 300 via entrez): RS1000266546 (11:111879973 G>T), RS1000725626 (11:111886025 T>A), RS1001168001 (11:111885883 A>C,G), RS1001322959 (11:111879458 G>C), RS1001826701 (11:111885544 A>G), RS1002155394 (11:111884162 T>C), RS1002834833 (11:111884478 A>C,G), RS1003034139 (11:111878610 C>G), RS1003391583 (11:111878245 G>C), RS1003833222 (11:111882881 T>C), RS1004446365 (11:111877910 G>A), RS1004974068 (11:111882033 T>C,G), RS1006241186 (11:111880384 G>C), RS1006385008 (11:111881023 C>A,T), RS1006744449 (11:111880593 A>G)

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

2 associations (top):

Study	Trait	p-value
GCST007564_5	Asthma or allergic disease (pleiotropy)	6.000000e-11
GCST010244_282	Triglyceride levels	9.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement

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
Acetaminophen	decreases expression	2
Tretinoin	decreases expression	2
manganese chloride	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Cisplatin	increases expression, affects cotreatment	1
Diethylhexyl Phthalate	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Manganese	decreases expression, increases abundance	1
Methotrexate	decreases expression	1
Testosterone	decreases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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