CFAP77

Summary

CFAP77 (cilia and flagella associated protein 77, HGNC:33776) is a protein-coding gene on chromosome 9q34.13, encoding Cilia- and flagella-associated protein 77 (Q6ZQR2). 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 389799 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 76 total
• MANE Select transcript: NM_001282957

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33776
Approved symbol	CFAP77
Name	cilia and flagella associated protein 77
Location	9q34.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ46082
Ensembl gene	ENSG00000188523
Ensembl biotype	protein_coding
OMIM	621136
Entrez	389799

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000343036, ENST00000393215, ENST00000393216, ENST00000939325

RefSeq mRNA: 2 — MANE Select: NM_001282957 NM_001282957, NM_207417

CCDS: CCDS65167, CCDS6949

Canonical transcript exons

ENST00000393216 — 6 exons

Exon	Start	End
ENSE00001372515	132498695	132498794
ENSE00001377247	132499372	132499600
ENSE00001379548	132542946	132543047
ENSE00001382446	132537601	132537706
ENSE00001903089	132410211	132410466
ENSE00001920772	132572388	132573319

Expression profiles

Bgee: expression breadth broad, 68 present calls, max score 94.68.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6296 / max 29.7716, expressed in 179 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
99143	0.5452	161
99142	0.0568	31
99141	0.0277	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	94.68	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.28	gold quality
left testis	UBERON:0004533	82.27	gold quality
right testis	UBERON:0004534	81.80	gold quality
testis	UBERON:0000473	81.75	gold quality
fallopian tube	UBERON:0003889	75.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.46	gold quality
right atrium auricular region	UBERON:0006631	67.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	66.42	gold quality
heart left ventricle	UBERON:0002084	65.42	gold quality
right lung	UBERON:0002167	64.02	gold quality
heart	UBERON:0000948	62.15	gold quality
cerebellum	UBERON:0002037	59.71	gold quality
cerebellar cortex	UBERON:0002129	59.63	gold quality
cerebellar hemisphere	UBERON:0002245	59.47	gold quality
apex of heart	UBERON:0002098	58.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	57.76	gold quality
left uterine tube	UBERON:0001303	56.74	gold quality
hypothalamus	UBERON:0001898	54.04	gold quality
ventricular zone	UBERON:0003053	52.54	gold quality
endometrium	UBERON:0001295	52.23	gold quality
lung	UBERON:0002048	51.51	gold quality
adenohypophysis	UBERON:0002196	50.77	gold quality
caudate nucleus	UBERON:0001873	50.74	gold quality
Ammon’s horn	UBERON:0001954	50.20	gold quality
endocervix	UBERON:0000458	49.47	gold quality
upper lobe of left lung	UBERON:0008952	48.62	gold quality
pituitary gland	UBERON:0000007	48.15	gold quality
amygdala	UBERON:0001876	44.86	gold quality
temporal lobe	UBERON:0001871	44.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	7.47
E-ANND-3	yes	6.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting CFAP77, 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-1184	99.99	68.19	1458
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-1276	99.36	68.18	1642
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-4260	98.78	65.37	848
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-4736	97.96	65.89	1287
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-4294	97.86	65.72	1110

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap77	ENSDARG00000068122
mus_musculus	Cfap77	ENSMUSG00000079502
rattus_norvegicus	Cfap77	ENSRNOG00000028805

Protein

Protein identifiers

Cilia- and flagella-associated protein 77 — Q6ZQR2 (reviewed: Q6ZQR2)

All UniProt accessions (2): A2A393, Q6ZQR2

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. Cell projection. Cilium.

Tissue specificity. Expressed in airway epithelial cells.

Similarity. Belongs to the CFAP77 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6ZQR2-1	1	yes
Q6ZQR2-2	2

RefSeq proteins (2): NP_001269886, NP_997300 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029147	CFAP77	Family

Pfam: PF14825

UniProt features (8 total): sequence variant 4, chain 1, region of interest 1, compositionally biased region 1, splice variant 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-Q6ZQR2-F1	73.75	0.18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 42 (showing top): GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM, GOCC_AXONEMAL_MICROTUBULE, GOCC_9PLUS2_MOTILE_CILIUM, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, chr9q34, GOCC_SUPRAMOLECULAR_POLYMER, ZSCAN30_TARGET_GENES, MIR1207_5P, MIR765

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

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

GO Cellular Component (9): axonemal microtubule (GO:0005879), cilium (GO:0005929), axoneme (GO:0005930), sperm flagellum (GO:0036126), axonemal B tubule inner sheath (GO:0160112), 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	4
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
binding	1
cytoplasmic microtubule	1
axoneme	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 anatomical structure	1
intracellular membraneless organelle	1
cilium	1

Protein interactions and networks

STRING

254 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP77	CFAP210	Q0VFZ6	543
CFAP77	SSMEM1	Q8WWF3	514
CFAP77	OR4D1	Q15615	507
CFAP77	CCDC17	Q96LX7	507
CFAP77	RERE	Q9P2R6	497
CFAP77	SPACA9	Q96E40	474
CFAP77	KLHL36	Q8N4N3	447
CFAP77	FAM153A	Q9UHL3	447
CFAP77	OSBPL9	Q96SU4	446
CFAP77	MTMR8	Q96EF0	419
CFAP77	CCDC28A	Q8IWP9	418
CFAP77	PARG	Q86W56	409
CFAP77	CFAP61	Q8NHU2	400
CFAP77	FAM114A2	Q9NRY5	399
CFAP77	FBXW12	Q6X9E4	393

IntAct

7 interactions, top by confidence:

A	B	Type	Score
TCF4	CFAP77	psi-mi:“MI:0915”(physical association)	0.560
CFAP77	RPL7A	psi-mi:“MI:0915”(physical association)	0.400
CFAP77	TUBA3C	psi-mi:“MI:0915”(physical association)	0.400
CFAP77	HSPA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): C9orf171 (Two-hybrid), TUBA3C (Affinity Capture-MS), TUBA3C (Affinity Capture-MS), C9orf171 (Proximity Label-MS), C9orf171 (Negative Genetic), TUBA3C (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), SERPINA12 (Affinity Capture-MS), C9orf171 (Cross-Linking-MS (XL-MS)), C9orf171 (Cross-Linking-MS (XL-MS)), C9orf171 (Affinity Capture-MS)

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: A0A087WRI3, A2BFC9, Q6ZQR2, A8IB22

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1578 predictions. Top by Δscore:

Variant	Effect	Δscore
9:132410463:CAAGG:C	donor_loss	1.0000
9:132410464:AAGG:A	donor_loss	1.0000
9:132410465:AGGT:A	donor_loss	1.0000
9:132410466:GGT:G	donor_loss	1.0000
9:132410467:G:GA	donor_loss	1.0000
9:132410468:T:G	donor_loss	1.0000
9:132498689:C:A	acceptor_gain	1.0000
9:132498692:CAGGC:C	acceptor_loss	1.0000
9:132498693:A:AG	acceptor_gain	1.0000
9:132498693:AG:A	acceptor_gain	1.0000
9:132498693:AGG:A	acceptor_loss	1.0000
9:132498693:AGGCT:A	acceptor_gain	1.0000
9:132498694:G:GC	acceptor_gain	1.0000
9:132498694:GG:G	acceptor_gain	1.0000
9:132498694:GGC:G	acceptor_gain	1.0000
9:132498694:GGCT:G	acceptor_gain	1.0000
9:132498694:GGCTG:G	acceptor_gain	1.0000
9:132498793:AGGTG:A	donor_loss	1.0000
9:132498794:GGT:G	donor_loss	1.0000
9:132498795:G:A	donor_loss	1.0000
9:132498795:G:GG	donor_gain	1.0000
9:132498796:T:A	donor_loss	1.0000
9:132499363:T:TA	acceptor_gain	1.0000
9:132499368:TCAGC:T	acceptor_loss	1.0000
9:132499369:CAGCC:C	acceptor_loss	1.0000
9:132499370:A:AG	acceptor_gain	1.0000
9:132499370:A:C	acceptor_loss	1.0000
9:132499371:G:GT	acceptor_gain	1.0000
9:132499371:GC:G	acceptor_gain	1.0000
9:132499371:GCC:G	acceptor_gain	1.0000

AlphaMissense

1845 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:132537624:T:C	L219P	0.991
9:132499383:T:A	W139R	0.988
9:132499383:T:C	W139R	0.988
9:132498746:T:C	F119L	0.985
9:132498748:T:A	F119L	0.985
9:132498748:T:G	F119L	0.985
9:132572409:T:C	F288L	0.985
9:132572411:C:A	F288L	0.985
9:132572411:C:G	F288L	0.985
9:132537650:T:A	W228R	0.982
9:132537650:T:C	W228R	0.982
9:132498756:G:A	G122E	0.980
9:132537652:G:C	W228C	0.980
9:132537652:G:T	W228C	0.980
9:132542976:A:C	S257R	0.980
9:132542978:C:A	S257R	0.980
9:132542978:C:G	S257R	0.980
9:132498794:G:C	A135P	0.978
9:132499584:T:C	F206L	0.977
9:132499586:T:A	F206L	0.977
9:132499586:T:G	F206L	0.977
9:132499385:G:C	W139C	0.976
9:132499385:G:T	W139C	0.976
9:132537663:A:C	Q232P	0.976
9:132537624:T:A	L219Q	0.973
9:132499588:G:A	G207E	0.971
9:132572410:T:C	F288S	0.970
9:132572475:G:A	G310R	0.968
9:132572475:G:C	G310R	0.968
9:132499448:C:A	N160K	0.966

dbSNP variants (sampled 300 via entrez): RS1000010499 (9:132454529 A>C,G), RS1000011306 (9:132545932 C>G), RS1000046007 (9:132414582 A>C,G), RS1000071376 (9:132457994 C>G,T), RS1000081417 (9:132501118 A>T), RS1000120406 (9:132537680 G>A), RS1000122222 (9:132460110 T>C), RS1000127324 (9:132427159 A>T), RS1000129483 (9:132508452 G>A), RS1000149354 (9:132421213 A>C), RS1000204728 (9:132435270 C>T), RS1000211969 (9:132473105 G>T), RS1000231056 (9:132467785 G>A), RS1000239276 (9:132518074 C>A), RS1000242814 (9:132508714 C>T)

Disease associations

OMIM: gene MIM:621136 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001762_805	Obesity-related traits	9.000000e-06
GCST006868_6	Type 2 diabetes	1.000000e-08
GCST006941_35	Irritable mood	2.000000e-12
GCST011742_57	Triglyceride levels in HIV infection	2.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005109	energy expenditure
EFO:0009594	irritability measurement
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

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance, increases expression	2
bisphenol A	decreases methylation, affects cotreatment, increases methylation	1
glycidyl methacrylate	increases expression	1
sodium arsenite	affects expression	1
aflatoxin B2	increases methylation	1
1-hydroxypyrene	affects cotreatment, decreases methylation	1
abrine	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Metals, Heavy	decreases methylation, affects cotreatment	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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