CFAP184

Summary

CFAP184 (cilia and flagella associated protein 184, HGNC:26900) is a protein-coding gene on chromosome 4p16.1, encoding Cilia- and flagella-associated protein 184 (Q2M329). In complex with CFAP263, acts as a regulator of ciliary beating that connects radial spoke 3 (RS3) to the inner dynein arm (IDA) and the nexin-dynein regulatory complex (N-DRC).

Predicted to be involved in cilium assembly. Predicted to be located in centrosome; cilium; and cytoplasm. Predicted to be active in axoneme and ciliary basal body.

Source: NCBI Gene 257236 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 96 total
• MANE Select transcript: NM_153376

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26900
Approved symbol	CFAP184
Name	cilia and flagella associated protein 184
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ90575
Ensembl gene	ENSG00000173013
Ensembl biotype	protein_coding
OMIM	619347
Entrez	257236

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000310085

RefSeq mRNA: 1 — MANE Select: NM_153376 NM_153376

CCDS: CCDS3395

Canonical transcript exons

ENST00000310085 — 1 exons

Exon	Start	End
ENSE00001192501	7040849	7043001

Expression profiles

Bgee: expression breadth ubiquitous, 172 present calls, max score 93.05.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8940 / max 119.5375, expressed in 477 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51278	0.8940	477

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	93.05	gold quality
right testis	UBERON:0004534	92.70	gold quality
bronchial epithelial cell	CL:0002328	91.70	gold quality
sperm	CL:0000019	90.76	gold quality
testis	UBERON:0000473	89.99	gold quality
bronchus	UBERON:0002185	89.60	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.37	gold quality
pancreatic ductal cell	CL:0002079	84.20	silver quality
right uterine tube	UBERON:0001302	83.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.93	gold quality
mucosa of paranasal sinus	UBERON:0005030	79.26	silver quality
cortical plate	UBERON:0005343	74.00	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.97	gold quality
adult organism	UBERON:0007023	73.06	gold quality
epithelium of nasopharynx	UBERON:0001951	73.00	silver quality
caudate nucleus	UBERON:0001873	71.74	gold quality
stromal cell of endometrium	CL:0002255	71.58	gold quality
putamen	UBERON:0001874	70.70	gold quality
nucleus accumbens	UBERON:0001882	69.58	gold quality
granulocyte	CL:0000094	69.53	gold quality
prefrontal cortex	UBERON:0000451	69.14	gold quality
fallopian tube	UBERON:0003889	69.04	gold quality
ileal mucosa	UBERON:0000331	68.89	silver quality
hypothalamus	UBERON:0001898	68.28	gold quality
secondary oocyte	CL:0000655	67.99	gold quality
nasal cavity mucosa	UBERON:0001826	67.33	gold quality
Brodmann (1909) area 9	UBERON:0013540	67.32	gold quality
oviduct epithelium	UBERON:0004804	66.58	gold quality
nasal cavity epithelium	UBERON:0005384	66.54	gold quality
left adrenal gland	UBERON:0001234	66.45	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.62
E-CURD-10	no	52.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting CFAP184, 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-223-3P	99.99	70.14	1140
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-935	98.82	69.36	1072
HSA-MIR-1178-3P	98.57	67.09	890
HSA-MIR-424-3P	97.20	65.86	385
HSA-MIR-5579-3P	97.00	68.81	1111
HSA-MIR-3200-3P	95.41	64.23	396
HSA-MIR-3672	94.46	65.67	646
HSA-MIR-6864-3P	94.46	65.97	625
HSA-MIR-891A-5P	93.24	65.86	104

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Cilia- and flagella-associated protein 184 — Q2M329 (reviewed: Q2M329)

All UniProt accessions (1): Q2M329

UniProt curated annotations — full annotation on UniProt →

Function. In complex with CFAP263, acts as a regulator of ciliary beating that connects radial spoke 3 (RS3) to the inner dynein arm (IDA) and the nexin-dynein regulatory complex (N-DRC). The complex is positioned parallel to N-DRC and forms a connection between the arch at the base of RS3, the IDA tail and N-DRC.

Subunit / interactions. Forms a complex with CFAP263; the interaction is required for functional activity in cilia.

Subcellular location. Cell projection. Cilium. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Similarity. Belongs to the CFAP184 family.

RefSeq proteins (1): NP_699207* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025254	CCDC113/CCDC96_CC	Domain
IPR051885	CC_CF	Family

Pfam: PF13870

UniProt features (11 total): compositionally biased region 6, coiled-coil region 2, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2M329-F1	69.36	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8A_DC_DN, BENPORATH_ES_WITH_H3K27ME3, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, chr4p16, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CYTOPLASMIC_REGION, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY

GO Biological Process (1): cilium assembly (GO:0060271)

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

GO Cellular Component (7): centrosome (GO:0005813), axoneme (GO:0005930), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
microtubule organizing center	2
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
centriole	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

1172 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP184	CFAP96	A7E2U8	772
CFAP184	SPMIP4	Q8N865	652
CFAP184	CCDC146	Q8IYE0	623
CFAP184	CCDC81	Q6ZN84	618
CFAP184	CCDC125	Q86Z20	614
CFAP184	CFAP299	Q6V702	601
CFAP184	CCDC38	Q502W7	591
CFAP184	CLXN	Q9HAE3	590
CFAP184	CCDC116	Q8IYX3	585
CFAP184	PIERCE1	Q5BN46	580
CFAP184	IQUB	Q8NA54	573
CFAP184	CCDC172	P0C7W6	571
CFAP184	CCDC70	Q6NSX1	554
CFAP184	CCDC92	Q53HC0	540
CFAP184	ARMC3	Q5W041	540

IntAct

14 interactions, top by confidence:

A	B	Type	Score
CFAP184	TFIP11	psi-mi:“MI:0915”(physical association)	0.770
MIS18A	DCTN6	psi-mi:“MI:0914”(association)	0.640
TPM1	CFAP184	psi-mi:“MI:0915”(physical association)	0.560
CFAP184	KRT8	psi-mi:“MI:0915”(physical association)	0.400
CFAP184	TARS3	psi-mi:“MI:0914”(association)	0.350
CFAP184	UTRN	psi-mi:“MI:0914”(association)	0.350
MIS18A	CCDC85C	psi-mi:“MI:0914”(association)	0.350
CFAP184	TFIP11	psi-mi:“MI:0915”(physical association)	0.000
TPM1	CFAP184	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (166): CCDC96 (Affinity Capture-MS), CCDC96 (Two-hybrid), CCDC96 (Two-hybrid), CCDC96 (Proximity Label-MS), MAD1L1 (Affinity Capture-MS), DNAJB5 (Affinity Capture-MS), SAV1 (Affinity Capture-MS), FAM83D (Affinity Capture-MS), NDC80 (Affinity Capture-MS), MAP1B (Affinity Capture-MS), FARP2 (Affinity Capture-MS), CEP350 (Affinity Capture-MS), C14orf80 (Affinity Capture-MS), MPHOSPH9 (Affinity Capture-MS), TPM2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0J9YX94, A0A0J9YXQ4, A0A0J9YY54, A0A494C1R9, A5D7L8, A6NDY0, A6NKD2, A7E321, E9PGG2, F6SZT2, O14771, O19110, O75807, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0CW24, P17564, P78358, Q01534, Q0P5N2, Q15735, Q2KI51, Q2M329, Q587J8, Q5DTT8, Q5R5G8, Q5R6R8, Q5SV97, Q60465, Q62881, Q69ZB3, Q6P752, Q86V59, Q8BSI6, Q8IWY8, Q8N3D4, Q8VD63

Diamond homologs: I7M6D6, Q2M329, Q3SZX9, Q8C5T8, Q95LS7, Q9CR92, Q9H0I3, Q5XJN6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	93
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

48 predictions. Top by Δscore:

Variant	Effect	Δscore
4:7042763:C:CA	donor_gain	0.6200
4:7042721:AGC:A	donor_gain	0.4600
4:7041517:T:TA	donor_gain	0.4400
4:7042484:T:TA	donor_gain	0.3800
4:7041495:T:TA	donor_gain	0.3600
4:7041611:A:AC	donor_gain	0.3400
4:7042784:T:TA	donor_gain	0.3400
4:7041709:C:CC	acceptor_gain	0.3300
4:7041928:C:CT	donor_gain	0.3300
4:7041617:TGC:T	donor_gain	0.3200
4:7041927:C:CT	donor_gain	0.3200
4:7042762:T:TA	donor_gain	0.3200
4:7041629:G:C	donor_gain	0.3100
4:7041668:T:A	donor_gain	0.3000
4:7041617:TGCAC:T	donor_gain	0.2900
4:7041616:T:C	donor_gain	0.2800
4:7041706:CAG:C	acceptor_gain	0.2700
4:7041761:AT:A	donor_gain	0.2700
4:7042790:T:TA	donor_gain	0.2700
4:7041492:G:A	donor_gain	0.2600
4:7041614:A:AC	donor_gain	0.2600
4:7041615:C:CC	donor_gain	0.2600
4:7041618:G:A	donor_gain	0.2600
4:7041445:CTT:C	donor_gain	0.2500
4:7042529:T:TA	donor_gain	0.2500
4:7041924:TCACC:T	donor_gain	0.2400
4:7042793:T:TA	donor_gain	0.2400
4:7041616:TTG:T	donor_gain	0.2300
4:7041714:C:CT	acceptor_gain	0.2200
4:7041720:C:CT	acceptor_gain	0.2200

AlphaMissense

3623 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:7041665:C:G	R425P	0.998
4:7041707:A:G	L411P	0.998
4:7041590:A:G	L450P	0.991
4:7041937:C:A	K334N	0.991
4:7041937:C:G	K334N	0.991
4:7042193:A:G	L249P	0.991
4:7041485:C:G	R485P	0.990
4:7041692:T:G	Q416P	0.990
4:7042256:A:G	L228P	0.990
4:7042223:C:G	R239P	0.989
4:7041493:C:A	K482N	0.987
4:7041493:C:G	K482N	0.987
4:7041653:A:G	L429P	0.987
4:7041794:A:G	L382P	0.984
4:7041644:A:G	L432P	0.983
4:7041489:C:G	A484P	0.982
4:7041473:C:G	R489P	0.981
4:7041455:A:G	L495P	0.980
4:7041506:A:G	L478P	0.980
4:7041715:A:C	F408L	0.979
4:7041715:A:T	F408L	0.979
4:7041717:A:G	F408L	0.979
4:7041710:T:G	Q410P	0.978
4:7041812:C:G	R376P	0.978
4:7041335:A:G	L535P	0.977
4:7042058:A:G	L294P	0.975
4:7042265:C:G	R225P	0.973
4:7041596:T:A	E448V	0.972
4:7041718:G:C	D407E	0.972
4:7041718:G:T	D407E	0.972

dbSNP variants (sampled 300 via entrez): RS1000019212 (4:7040909 C>G,T), RS1000346404 (4:7042451 T>C), RS1001641969 (4:7043021 C>T), RS1002654447 (4:7044775 C>T), RS1002792615 (4:7043949 C>A,T), RS1003032846 (4:7044501 G>C), RS1003211868 (4:7043573 G>A,T), RS1003852903 (4:7044582 G>T), RS1003944417 (4:7044286 C>G,T), RS1004611391 (4:7040542 A>G,T), RS1006919145 (4:7040877 A>G,T), RS1008929173 (4:7043244 C>G,T), RS1009994900 (4:7043547 G>A), RS1010089673 (4:7043304 C>T), RS1010210074 (4:7041784 G>A,T)

Disease associations

OMIM: gene MIM:619347 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009066_7	Mosaic loss of chromosome Y (Y chromosome dosage)	1.000000e-14
GCST009067_9	Mosaic loss of chromosome Y (Y chromosome dosage)	1.000000e-16
GCST012462_3	Asthma and eczema	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007783	mosaic loss of chromosome Y measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
sotorasib	affects cotreatment, increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
trichostatin A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
CGP 52608	increases reaction, affects binding	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases expression	1
Carbamazepine	affects expression	1
Cisplatin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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