CFAP43

Summary

CFAP43 (cilia and flagella associated protein 43, HGNC:26684) is a protein-coding gene on chromosome 10q25.1, encoding Cilia- and flagella-associated protein 43 (Q8NDM7). Flagellar protein involved in sperm flagellum axoneme organization and function.

This gene encodes a member of the cilia- and flagella-associated protein family.

Source: NCBI Gene 80217 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spermatogenic failure 19 (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 326 total — 14 pathogenic, 8 likely-pathogenic
• Phenotypes (HPO): 14
• MANE Select transcript: NM_025145

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26684
Approved symbol	CFAP43
Name	cilia and flagella associated protein 43
Location	10q25.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36006, bA373N18.2, FLJ22944
Ensembl gene	ENSG00000197748
Ensembl biotype	protein_coding
OMIM	617558
Entrez	80217

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000278064, ENST00000357060, ENST00000369719, ENST00000369720, ENST00000434629, ENST00000457071, ENST00000479392, ENST00000956220

RefSeq mRNA: 1 — MANE Select: NM_025145 NM_025145

CCDS: CCDS31281

Canonical transcript exons

ENST00000357060 — 38 exons

Exon	Start	End
ENSE00000987450	104133620	104133784
ENSE00000987451	104132116	104132196
ENSE00000987452	104131331	104131484
ENSE00000987669	104225461	104225557
ENSE00000987670	104214259	104214426
ENSE00000987671	104212007	104212157
ENSE00000987672	104207665	104207824
ENSE00001026118	104197922	104198038
ENSE00001092477	104152607	104152726
ENSE00001092480	104147891	104147998
ENSE00001092484	104187320	104187492
ENSE00001092486	104185974	104186123
ENSE00001092487	104188270	104188410
ENSE00001161163	104203672	104203803
ENSE00001177021	104192199	104192302
ENSE00001191037	104196853	104196933
ENSE00001191088	104193866	104194014
ENSE00001254645	104168744	104168848
ENSE00001254649	104172410	104172535
ENSE00001254659	104179029	104179106
ENSE00001254668	104179840	104179932
ENSE00001254679	104182366	104182513
ENSE00001254685	104185016	104185146
ENSE00001255161	104142281	104142393
ENSE00001255171	104143426	104143639
ENSE00001255179	104145476	104145564
ENSE00001255182	104146263	104146349
ENSE00001255205	104129888	104130305
ENSE00001417865	104167621	104167737
ENSE00001422209	104164094	104164300
ENSE00001424694	104166488	104166718
ENSE00001426182	104161961	104162041
ENSE00001429978	104162317	104162403
ENSE00001432745	104161037	104161162
ENSE00001450723	104205963	104206030
ENSE00003622003	104232182	104232364
ENSE00003641146	104140842	104141001
ENSE00003678708	104230590	104230843

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 99.45.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7415 / max 90.2170, expressed in 526 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111301	1.7415	526

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.45	gold quality
bronchial epithelial cell	CL:0002328	99.12	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.73	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.86	gold quality
left testis	UBERON:0004533	93.67	gold quality
right testis	UBERON:0004534	93.47	gold quality
testis	UBERON:0000473	91.43	gold quality
caput epididymis	UBERON:0004358	90.94	gold quality
epithelium of nasopharynx	UBERON:0001951	89.88	gold quality
epithelium of bronchus	UBERON:0002031	89.40	gold quality
bronchus	UBERON:0002185	89.02	gold quality
sperm	CL:0000019	89.00	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.80	gold quality
male germ cell	CL:0000015	85.67	gold quality
adenohypophysis	UBERON:0002196	83.66	gold quality
pituitary gland	UBERON:0000007	82.84	gold quality
left uterine tube	UBERON:0001303	82.00	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.19	gold quality
right lung	UBERON:0002167	80.82	gold quality
fallopian tube	UBERON:0003889	80.67	gold quality
metanephros cortex	UBERON:0010533	78.30	gold quality
caudate nucleus	UBERON:0001873	77.74	gold quality
thyroid gland	UBERON:0002046	77.37	gold quality
left lobe of thyroid gland	UBERON:0001120	77.03	gold quality
endometrium	UBERON:0001295	76.85	gold quality
right lobe of thyroid gland	UBERON:0001119	76.82	gold quality
nucleus accumbens	UBERON:0001882	75.68	gold quality
corpus callosum	UBERON:0002336	74.73	gold quality
endocervix	UBERON:0000458	73.62	gold quality
ventricular zone	UBERON:0003053	73.39	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	1815.29
E-CURD-114	yes	62.30
E-MTAB-10287	yes	24.80
E-GEOD-130148	yes	14.44
E-ANND-3	yes	11.39
E-MTAB-9388	yes	6.92

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting CFAP43, 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-3646	100.00	73.56	5283
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-5000-3P	98.79	65.63	1251
HSA-MIR-3149	98.77	67.13	1639

Literature-anchored findings (GeneRIF, showing 7)

• biallelic mutations in either CFAP43 or CFAP44 can cause sperm flagellar abnormalities and impair sperm motility. (PMID:28552195)
• Study demonstrated that biallelic mutations in CFAP44 and CFAP43 cause multiple morphological abnormalities of the sperm flagella (MMAF). These results provide researchers with a new insight to understand the genetic etiology of MMAF and to identify new loci for genetic counselling of MMAF. (PMID:29277146)
• demonstrate that CFAP43 and CFAP44 have a similar structure with a unique axonemal localization and are necessary to produce functional flagella in species ranging from Trypanosoma to human (PMID:29449551)
• important cause of multiple morphological abnormalities of the sperm flagellum in the Chinese population (PMID:30904354)
• A loss of function mutation was identified in a family with normal-pressure hydrocephalus. (PMID:31004071)
• Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella. (PMID:32207550)
• Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families. (PMID:34100391)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap43	ENSDARG00000001825
mus_musculus	Cfap43	ENSMUSG00000044948
rattus_norvegicus	Cfap43	ENSRNOG00000036585
drosophila_melanogaster	CG17687	FBGN0036348

Protein

Protein identifiers

Cilia- and flagella-associated protein 43 — Q8NDM7 (reviewed: Q8NDM7)

Alternative names: WD repeat-containing protein 96

All UniProt accessions (6): A0A0C4DFU9, H0Y4U9, H7BZT8, Q5TA04, Q5TA05, Q8NDM7

UniProt curated annotations — full annotation on UniProt →

Function. Flagellar protein involved in sperm flagellum axoneme organization and function. Involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract.

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

Tissue specificity. Testis-specific.

Disease relevance. Spermatogenic failure 19 (SPGF19) [MIM:617592] An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. The disease is caused by variants affecting the gene represented in this entry. Hydrocephalus, normal pressure, 1 (HYDNP1) [MIM:236690] An autosomal dominant neurologic disorder characterized by a slowly progressive gait disorder, urinary incontinence, progressive intellectual decline, and ventricular enlargement on brain imaging. Cerebrospinal fluid pressure tends to be in the high normal range. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the CFAP43 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8NDM7-1	1	yes
Q8NDM7-2	2
Q8NDM7-3	3
Q8NDM7-4	4
Q8NDM7-5	5

RefSeq proteins (1): NP_079421* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily

Pfam: PF25828

UniProt features (35 total): sequence variant 13, repeat 9, splice variant 6, coiled-coil region 4, sequence conflict 2, chain 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-Q8NDM7-F1	77.27	0.14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 122 (showing top): GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_RESPIRATORY_SYSTEM_PROCESS, GOBP_MALE_GAMETE_GENERATION, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_NUCLEUS_ORGANIZATION, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_HEAD_DEVELOPMENT, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION

GO Biological Process (15): cell morphogenesis (GO:0000902), regulation of cilium beat frequency (GO:0003356), nucleus organization (GO:0006997), sperm axoneme assembly (GO:0007288), brain development (GO:0007420), establishment of localization in cell (GO:0051649), cilium assembly (GO:0060271), cerebrospinal fluid circulation (GO:0090660), mucociliary clearance (GO:0120197), cilium movement (GO:0003341), spermatogenesis (GO:0007283), cell projection organization (GO:0030030), flagellated sperm motility (GO:0030317), motile cilium assembly (GO:0044458), cilium organization (GO:0044782)

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

GO Cellular Component (8): extracellular region (GO:0005576), axoneme (GO:0005930), 9+2 motile cilium (GO:0097729), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), 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
organelle organization	2
developmental process involved in reproduction	2
axoneme assembly	2
epithelial cilium movement involved in extracellular fluid movement	2
anatomical structure morphogenesis	1
regulation of cilium movement	1
sperm flagellum assembly	1
central nervous system development	1
animal organ development	1
head development	1
establishment of localization	1
cellular localization	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
nervous system process	1
respiratory system process	1
microtubule-based movement	1
male gamete generation	1
cellular component organization	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
cilium assembly	1
plasma membrane bounded cell projection organization	1
binding	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
radial spoke	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1

Protein interactions and networks

STRING

720 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP43	CFAP251	Q8TBY9	798
CFAP43	QRICH2	Q9H0J4	794
CFAP43	DNAH1	Q9P2D7	782
CFAP43	CFAP69	A5D8W1	781
CFAP43	CCDC39	Q9UFE4	722
CFAP43	TTC21A	Q8NDW8	720
CFAP43	CFAP70	Q5T0N1	701
CFAP43	ARMC2	Q8NEN0	698
CFAP43	SPEF2	Q9C093	683
CFAP43	FSIP2	Q5CZC0	682
CFAP43	TTC29	Q8NA56	679
CFAP43	CFAP58	Q5T655	670
CFAP43	CFAP91	Q7Z4T9	615
CFAP43	CFAP47	Q6ZTR5	612
CFAP43	CFAP44	Q96MT7	608

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CFAP43	H3-4	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (9): CFAP43 (Two-hybrid), CFAP43 (Affinity Capture-MS), CFAP43 (Proximity Label-MS), CFAP43 (Affinity Capture-MS), CFAP43 (Affinity Capture-RNA), CNNM2 (Cross-Linking-MS (XL-MS)), CFAP43 (Co-fractionation), CFAP43 (Co-fractionation), CFAP43 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GXY4, A4D1P6, A8XSV3, B0JZ65, B0R160, B0WYR6, E9Q7R9, F1REV3, F6S215, O00443, O65418, P50748, Q09178, Q12769, Q17I16, Q19317, Q2TAW0, Q3MHH2, Q402B2, Q4V9P9, Q5R6T6, Q5RAY1, Q5RB52, Q5RE88, Q5ZJY3, Q5ZL79, Q5ZLL7, Q6DTM3, Q6GM71, Q6INI5, Q6P996, Q6X9E4, Q6ZQQ6, Q7TMQ7, Q86XI2, Q8BJW5, Q8BMQ2, Q8C3Y4, Q8K3E5, Q8N157

Diamond homologs: A0A1L8GXY4, E9Q7R9, Q8NDM7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	8
Uncertain significance	226
Likely benign	35
Benign	15

Top pathogenic / likely-pathogenic (22)

Variant ID	HGVS	Classification
1344887	NM_025145.7(CFAP43):c.2658G>A (p.Trp886Ter)	Pathogenic
2498469	NM_025145.7(CFAP43):c.3831T>G (p.Tyr1277Ter)	Pathogenic
430933	NM_025145.7(CFAP43):c.2802T>A (p.Cys934Ter)	Pathogenic
430934	NM_025145.7(CFAP43):c.4132C>T (p.Arg1378Ter)	Pathogenic
430935	NM_025145.7(CFAP43):c.386C>A (p.Ser129Tyr)	Pathogenic
430936	NM_025145.7(CFAP43):c.253C>T (p.Arg85Trp)	Pathogenic
430937	NM_025145.7(CFAP43):c.3945-263_4431+252del	Pathogenic
523144	NM_025145.7(CFAP43):c.3661-2del	Pathogenic
523145	NM_025145.7(CFAP43):c.3541-2A>C	Pathogenic
523146	NM_025145.7(CFAP43):c.1240_1241del (p.Val414fs)	Pathogenic
523147	NM_025145.7(CFAP43):c.3352C>T (p.Arg1118Ter)	Pathogenic
523148	NM_025145.7(CFAP43):c.1302dup (p.Leu435fs)	Pathogenic
523149	NM_025145.7(CFAP43):c.1040T>C (p.Val347Ala)	Pathogenic
805993	NM_025145.7(CFAP43):c.4506G>A (p.Trp1502Ter)	Pathogenic
2585282	NM_025145.7(CFAP43):c.3937C>T (p.Arg1313Ter)	Likely pathogenic
3029042	NM_025145.7(CFAP43):c.3716del (p.Ser1239fs)	Likely pathogenic
3239653	NM_025145.7(CFAP43):c.3101A>C (p.Lys1034Thr)	Likely pathogenic
3893050	NM_025145.7(CFAP43):c.3749del (p.Thr1250fs)	Likely pathogenic
3893051	NM_025145.7(CFAP43):c.4579dup (p.Ser1527fs)	Likely pathogenic
3893189	NM_025145.7(CFAP43):c.2758G>T (p.Glu920Ter)	Likely pathogenic
3906976	NM_025145.7(CFAP43):c.3145C>T (p.Arg1049Ter)	Likely pathogenic
4081241	NM_025145.7(CFAP43):c.2706_2707del (p.Val904fs)	Likely pathogenic

SpliceAI

6933 predictions. Top by Δscore:

Variant	Effect	Δscore
10:104130304:CC:C	acceptor_gain	1.0000
10:104130305:CC:C	acceptor_gain	1.0000
10:104130312:C:T	acceptor_gain	1.0000
10:104131325:GCTTA:G	donor_loss	1.0000
10:104131326:CTTA:C	donor_loss	1.0000
10:104131327:TTACC:T	donor_loss	1.0000
10:104131328:TA:T	donor_loss	1.0000
10:104131329:A:AC	donor_gain	1.0000
10:104131329:A:T	donor_loss	1.0000
10:104131329:AC:A	donor_gain	1.0000
10:104131329:ACC:A	donor_gain	1.0000
10:104131330:C:CA	donor_loss	1.0000
10:104131330:C:CC	donor_gain	1.0000
10:104131330:CC:C	donor_gain	1.0000
10:104131330:CCC:C	donor_gain	1.0000
10:104131330:CCCA:C	donor_gain	1.0000
10:104131330:CCCAT:C	donor_gain	1.0000
10:104131511:C:CT	acceptor_gain	1.0000
10:104131511:C:T	acceptor_gain	1.0000
10:104131644:T:C	acceptor_gain	1.0000
10:104132198:T:C	acceptor_gain	1.0000
10:104132205:T:TC	acceptor_gain	1.0000
10:104142272:T:TA	donor_gain	1.0000
10:104142279:A:AC	donor_gain	1.0000
10:104142280:C:CC	donor_gain	1.0000
10:104142280:CAGG:C	donor_gain	1.0000
10:104142303:T:A	donor_gain	1.0000
10:104142307:AATCT:A	donor_gain	1.0000
10:104142311:T:A	donor_gain	1.0000
10:104142329:T:TA	donor_gain	1.0000

AlphaMissense

11079 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:104143453:T:A	R1377S	0.998
10:104143453:T:G	R1377S	0.998
10:104207779:A:G	W261R	0.998
10:104207779:A:T	W261R	0.998
10:104143454:C:G	R1377T	0.997
10:104143476:A:G	W1370R	0.997
10:104143476:A:T	W1370R	0.997
10:104230667:G:T	A81D	0.997
10:104225462:A:G	W139R	0.996
10:104225462:A:T	W139R	0.996
10:104225503:A:G	L125P	0.996
10:104143451:C:G	R1378P	0.995
10:104225496:A:C	S127R	0.995
10:104225496:A:T	S127R	0.995
10:104225498:T:G	S127R	0.995
10:104225500:G:T	A126D	0.995
10:104225520:A:C	S119R	0.995
10:104225520:A:T	S119R	0.995
10:104225522:T:G	S119R	0.995
10:104230668:C:G	A81P	0.995
10:104143444:T:A	K1380N	0.994
10:104143444:T:G	K1380N	0.994
10:104147991:A:G	L1223P	0.994
10:104214332:A:G	C171R	0.994
10:104143474:C:A	W1370C	0.993
10:104143474:C:G	W1370C	0.993
10:104145487:T:A	K1311N	0.992
10:104145487:T:G	K1311N	0.992
10:104167708:G:C	N907K	0.992
10:104167708:G:T	N907K	0.992

dbSNP variants (sampled 300 via entrez): RS1000000961 (10:104170899 T>C), RS1000041148 (10:104171203 G>A), RS1000097070 (10:104215270 G>T), RS1000125507 (10:104159164 C>G), RS1000150956 (10:104215509 C>T), RS1000156925 (10:104151764 T>A,C), RS1000194102 (10:104190960 T>C), RS1000239790 (10:104198539 C>G), RS1000251300 (10:104191165 A>G), RS1000263672 (10:104146737 C>A), RS1000339853 (10:104220999 G>A,T), RS1000389167 (10:104229463 G>A,C), RS1000413883 (10:104227659 G>A,T), RS1000450957 (10:104227334 T>G), RS1000454769 (10:104210868 G>C)

Disease associations

OMIM: gene MIM:617558 | disease phenotypes: MIM:617592, MIM:236690

GenCC curated gene-disease

Disease	Classification	Inheritance
non-syndromic male infertility due to sperm motility disorder	Supportive	Autosomal recessive
normal pressure hydrocephalus	Limited	Autosomal dominant
spermatogenic failure 19	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (3)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
spermatogenic failure 19	Definitive	AR
primary ciliary dyskinesia	Limited	AR
normal pressure hydrocephalus	Disputed	AD

Mondo (5): spermatogenic failure 19 (MONDO:0054723), normal pressure hydrocephalus (MONDO:0009366), prostate cancer (MONDO:0008315), oligospermia (MONDO:0001913), (MONDO:0017173)

Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Normal pressure hydrocephalus (Orphanet:314928)

HPO phenotypes

14 total (15 of 14 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000726	Dementia
HP:0001263	Global developmental delay
HP:0001288	Gait disturbance
HP:0002343	Normal pressure hydrocephalus
HP:0002607	Bowel incontinence
HP:0003251	Male infertility
HP:0011462	Young adult onset
HP:0012207	Reduced sperm motility
HP:0032558	Absent sperm flagella
HP:0032559	Short sperm flagella
HP:0032560	Coiled sperm flagella
HP:0000798	Oligozoospermia

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000246_6	Attention deficit hyperactivity disorder	4.000000e-06
GCST004722_5	Left ventricular obstructive tract defect (maternal effect)	9.000000e-06
GCST007637_47	Diffusing capacity of carbon monoxide	5.000000e-06
GCST008163_434	Height	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009369	diffusing capacity of the lung for carbon monoxide

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D006850	Hydrocephalus, Normal Pressure	C10.228.140.602.750
D009845	Oligospermia	C12.100.500.430.508; C12.100.750.700.508; C12.200.294.430.508
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects expression, decreases expression, increases methylation, increases mutagenesis	4
sodium arsenite	decreases expression, increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
propionaldehyde	increases expression	1
butyraldehyde	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
2-palmitoylglycerol	increases expression	1
licochalcone B	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Diethylhexyl Phthalate	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
N-Nitrosopyrrolidine	decreases expression	1
Nicotine	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00793416	PHASE4	WITHDRAWN	ShuntCheck Accuracy in Detecting Shunt Obstruction Normal Pressure Hydrocephalus (NPH) Patients
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer