CFAP44
gene geneOn this page
Also known as FLJ11142
Summary
CFAP44 (cilia and flagella associated protein 44, HGNC:25631) is a protein-coding gene on chromosome 3q13.2, encoding Cilia- and flagella-associated protein 44 (Q96MT7). Flagellar protein involved in sperm flagellum axoneme organization and function.
Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatogenic failure 20.
Source: NCBI Gene 55779 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 20 (Moderate, GenCC) — +1 more curated relationship
- GWAS associations: 4
- Clinical variants (ClinVar): 229 total — 9 pathogenic, 7 likely-pathogenic
- Phenotypes (HPO): 6
- MANE Select transcript:
NM_001164496
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25631 |
| Approved symbol | CFAP44 |
| Name | cilia and flagella associated protein 44 |
| Location | 3q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11142 |
| Ensembl gene | ENSG00000206530 |
| Ensembl biotype | protein_coding |
| OMIM | 617559 |
| Entrez | 55779 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 6 nonsense_mediated_decay, 3 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000295868, ENST00000393845, ENST00000461734, ENST00000465186, ENST00000465510, ENST00000473143, ENST00000475568, ENST00000479422, ENST00000484923, ENST00000488854, ENST00000489244, ENST00000489938, ENST00000490481
RefSeq mRNA: 2 — MANE Select: NM_001164496
NM_001164496, NM_018338
CCDS: CCDS2972, CCDS54624
Canonical transcript exons
ENST00000393845 — 35 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001912682 | 113286930 | 113291748 |
| ENSE00003548737 | 113433565 | 113433669 |
| ENSE00003793620 | 113341744 | 113341918 |
| ENSE00003796467 | 113330168 | 113330668 |
| ENSE00003797033 | 113344516 | 113344712 |
| ENSE00003797687 | 113363145 | 113363307 |
| ENSE00003798616 | 113333406 | 113333583 |
| ENSE00003799968 | 113327616 | 113327819 |
| ENSE00003801243 | 113420017 | 113420179 |
| ENSE00003801935 | 113306201 | 113306331 |
| ENSE00003802208 | 113366039 | 113366309 |
| ENSE00003802209 | 113400545 | 113400644 |
| ENSE00003802467 | 113396518 | 113396727 |
| ENSE00003802727 | 113303916 | 113304117 |
| ENSE00003802789 | 113363477 | 113363532 |
| ENSE00003803501 | 113380899 | 113381060 |
| ENSE00003803720 | 113305036 | 113305152 |
| ENSE00003804338 | 113416525 | 113416627 |
| ENSE00003805666 | 113441453 | 113441493 |
| ENSE00003805792 | 113427187 | 113427339 |
| ENSE00003806044 | 113373411 | 113373556 |
| ENSE00003806219 | 113308158 | 113308268 |
| ENSE00003807637 | 113358745 | 113358875 |
| ENSE00003807905 | 113426124 | 113426277 |
| ENSE00003807960 | 113326445 | 113326640 |
| ENSE00003808478 | 113294687 | 113294821 |
| ENSE00003809202 | 113409106 | 113409322 |
| ENSE00003809589 | 113403852 | 113404016 |
| ENSE00003809680 | 113395750 | 113395860 |
| ENSE00003809947 | 113401584 | 113401739 |
| ENSE00003810589 | 113296725 | 113296885 |
| ENSE00003810745 | 113401240 | 113401287 |
| ENSE00003811125 | 113399906 | 113400000 |
| ENSE00003811219 | 113379306 | 113379551 |
| ENSE00003811379 | 113406927 | 113407041 |
Expression profiles
Bgee: expression breadth ubiquitous, 208 present calls, max score 96.87.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4455 / max 43.0965, expressed in 120 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43844 | 0.3590 | 98 |
| 43842 | 0.0633 | 23 |
| 43843 | 0.0231 | 14 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 96.87 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.67 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.69 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 88.63 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 88.32 | gold quality |
| sperm | CL:0000019 | 88.27 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.24 | gold quality |
| sural nerve | UBERON:0015488 | 87.95 | gold quality |
| bronchus | UBERON:0002185 | 87.28 | gold quality |
| adenohypophysis | UBERON:0002196 | 85.04 | gold quality |
| male germ cell | CL:0000015 | 85.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.82 | gold quality |
| minor salivary gland | UBERON:0001830 | 84.23 | gold quality |
| body of pancreas | UBERON:0001150 | 84.22 | gold quality |
| pituitary gland | UBERON:0000007 | 83.55 | gold quality |
| endocervix | UBERON:0000458 | 82.39 | gold quality |
| right testis | UBERON:0004534 | 82.38 | gold quality |
| left testis | UBERON:0004533 | 82.34 | gold quality |
| rectum | UBERON:0001052 | 82.24 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.20 | gold quality |
| body of stomach | UBERON:0001161 | 81.79 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 81.35 | gold quality |
| transverse colon | UBERON:0001157 | 81.30 | gold quality |
| testis | UBERON:0000473 | 80.55 | gold quality |
| right lung | UBERON:0002167 | 80.50 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 80.47 | gold quality |
| left uterine tube | UBERON:0001303 | 80.41 | gold quality |
| tibial nerve | UBERON:0001323 | 79.93 | gold quality |
| body of uterus | UBERON:0009853 | 79.92 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 79.69 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.08 |
| E-MTAB-9388 | yes | 6.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
16 targeting CFAP44, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-505-3P | 99.19 | 69.71 | 896 |
| HSA-MIR-599 | 98.32 | 66.99 | 1037 |
| HSA-MIR-10226 | 98.25 | 66.50 | 811 |
| HSA-MIR-138-1-3P | 98.25 | 67.89 | 867 |
| HSA-MIR-6771-3P | 98.20 | 66.53 | 971 |
| HSA-MIR-3920 | 97.75 | 69.02 | 1168 |
| HSA-MIR-592 | 96.59 | 67.59 | 817 |
Literature-anchored findings (GeneRIF, showing 5)
- Results show that the rs13064411 polymorphism in the WDR52 gene was associated with a modified effect of statin therapy on serum LDL and total cholesterol levels. (PMID:25602530)
- 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)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cfap44 | ENSMUSG00000071550 |
| rattus_norvegicus | Cfap44 | ENSRNOG00000028077 |
| drosophila_melanogaster | CG34124 | FBGN0083960 |
Paralogs (9): EML1 (ENSG00000066629), EML2 (ENSG00000125746), EML4 (ENSG00000143924), EML3 (ENSG00000149499), CFAP251 (ENSG00000158023), WDR90 (ENSG00000161996), EML5 (ENSG00000165521), CFAP52 (ENSG00000166596), EML6 (ENSG00000214595)
Protein
Protein identifiers
Cilia- and flagella-associated protein 44 — Q96MT7 (reviewed: Q96MT7)
Alternative names: WD repeat-containing protein 52
All UniProt accessions (8): Q96MT7, A0A1D5RMR1, C9K0A4, F8WEX0, H0Y883, H0Y896, H7C512, H7C591
UniProt curated annotations — full annotation on UniProt →
Function. Flagellar protein involved in sperm flagellum axoneme organization and function.
Subcellular location. Cell projection. Cilium. Flagellum. Cytoplasm. Cytoskeleton. Flagellum axoneme.
Tissue specificity. Testis-specific.
Disease relevance. Spermatogenic failure 20 (SPGF20) [MIM:617593] An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 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.
Similarity. Belongs to the CFAP44 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96MT7-2 | 2 | yes |
| Q96MT7-1 | 1 |
RefSeq proteins (2): NP_001157968, NP_060808 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR055439 | Beta-prop_EML_1st | Domain |
Pfam: PF00400, PF23409
UniProt features (30 total): repeat 9, compositionally biased region 7, region of interest 5, sequence variant 4, splice variant 2, chain 1, coiled-coil region 1, modified residue 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-Q96MT7-F1 | 74.87 | 0.27 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 1083
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 122 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, MODULE_511, GOBP_MALE_GAMETE_GENERATION, GOBP_NUCLEUS_ORGANIZATION, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_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_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, GOCC_CYTOPLASMIC_REGION
GO Biological Process (7): microtubule cytoskeleton organization (GO:0000226), cell morphogenesis (GO:0000902), nucleus organization (GO:0006997), sperm axoneme assembly (GO:0007288), spermatogenesis (GO:0007283), flagellated sperm motility (GO:0030317), cilium organization (GO:0044782)
GO Molecular Function (2): peptidase activity (GO:0008233), protein binding (GO:0005515)
GO Cellular Component (5): motile cilium (GO:0031514), 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 |
|---|---|
| organelle organization | 2 |
| developmental process involved in reproduction | 2 |
| cellular anatomical structure | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| anatomical structure morphogenesis | 1 |
| axoneme assembly | 1 |
| sperm flagellum assembly | 1 |
| male gamete generation | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| plasma membrane bounded cell projection organization | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 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
1772 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CFAP44 | QRICH2 | Q9H0J4 | 795 |
| CFAP44 | CFAP69 | A5D8W1 | 786 |
| CFAP44 | DNAH1 | Q9P2D7 | 777 |
| CFAP44 | TTC29 | Q8NA56 | 661 |
| CFAP44 | CFAP70 | Q5T0N1 | 652 |
| CFAP44 | TTC21A | Q8NDW8 | 649 |
| CFAP44 | FSIP2 | Q5CZC0 | 641 |
| CFAP44 | ARMC2 | Q8NEN0 | 633 |
| CFAP44 | AKAP4 | Q5JQC9 | 611 |
| CFAP44 | CFAP43 | Q8NDM7 | 608 |
| CFAP44 | CFAP58 | Q5T655 | 594 |
| CFAP44 | SPEF2 | Q9C093 | 588 |
| CFAP44 | DNAH17 | Q9UFH2 | 582 |
| CFAP44 | CFAP91 | Q7Z4T9 | 581 |
| CFAP44 | CCDC39 | Q9UFE4 | 568 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GADD45G | CFAP44 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CFAP44 | GADD45G | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (18): CFAP44 (Affinity Capture-MS), CFAP44 (Affinity Capture-MS), CFAP44 (Affinity Capture-MS), CFAP44 (Affinity Capture-MS), CFAP44 (Two-hybrid), CFAP44 (Proximity Label-MS), CFAP44 (Proximity Label-MS), CFAP44 (Affinity Capture-MS), CFAP44 (Affinity Capture-MS), CFAP44 (Proximity Label-MS), CFAP44 (Cross-Linking-MS (XL-MS)), CFAP44 (Cross-Linking-MS (XL-MS)), CFAP44 (Cross-Linking-MS (XL-MS)), CFAP44 (Cross-Linking-MS (XL-MS)), FAM98A (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A2AC93, B2RY71, E7F6H7, E9PYY5, E9Q5M6, O14576, O43815, O55106, O88485, O88487, P27766, P36872, P70483, Q0III3, Q13409, Q13610, Q16959, Q16960, Q29RQ3, Q2HJ56, Q32KS2, Q32LP9, Q4QR00, Q4V8G4, Q5DQR4, Q5NVM2, Q5SQE2, Q5VTH9, Q5XIL8, Q5ZLK1, Q62871, Q63100, Q66HC9, Q6GPB9, Q8BPM2, Q8C0M8, Q8C0P5, Q8IVH8, Q8IWG1, Q92828
Diamond homologs: E9Q5M6, Q96MT7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
229 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 9 |
| Likely pathogenic | 7 |
| Uncertain significance | 113 |
| Likely benign | 43 |
| Benign | 19 |
Top pathogenic / likely-pathogenic (16)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1013486 | NM_001164496.2(CFAP44):c.1170+1G>A | Pathogenic |
| 2055515 | NM_001164496.2(CFAP44):c.535C>T (p.Arg179Ter) | Pathogenic |
| 2058075 | NM_001164496.2(CFAP44):c.259C>T (p.Gln87Ter) | Pathogenic |
| 430938 | NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs) | Pathogenic |
| 523150 | NC_000003.12:g.113358867_113358876del | Pathogenic |
| 523151 | NM_001164496.2(CFAP44):c.1769T>A (p.Leu590Gln) | Pathogenic |
| 523152 | NM_001164496.2(CFAP44):c.1387G>T (p.Glu463Ter) | Pathogenic |
| 523153 | NM_001164496.2(CFAP44):c.3175C>T (p.Arg1059Ter) | Pathogenic |
| 523154 | NM_001164496.2(CFAP44):c.2818dup (p.Glu940fs) | Pathogenic |
| 1339091 | NM_001164496.2(CFAP44):c.670C>T (p.Arg224Ter) | Likely pathogenic |
| 2632408 | NM_001164496.2(CFAP44):c.2616del (p.Leu873fs) | Likely pathogenic |
| 3065141 | NM_001164496.2(CFAP44):c.1303G>T (p.Gly435Ter) | Likely pathogenic |
| 3352580 | NM_001164496.2(CFAP44):c.5540_5541dup (p.Glu1848fs) | Likely pathogenic |
| 3893052 | NM_001164496.2(CFAP44):c.408-2A>T | Likely pathogenic |
| 3893053 | NM_001164496.2(CFAP44):c.5078-2A>G | Likely pathogenic |
| 4845865 | NM_001164496.2(CFAP44):c.2813_2816del (p.Met938fs) | Likely pathogenic |
SpliceAI
3068 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:113363303:CGATA:C | acceptor_gain | 1.0000 |
| 3:113363306:TA:T | acceptor_gain | 1.0000 |
| 3:113363308:C:CC | acceptor_gain | 1.0000 |
| 3:113363471:CCATA:C | donor_loss | 1.0000 |
| 3:113363472:CATA:C | donor_loss | 1.0000 |
| 3:113363473:ATAC:A | donor_loss | 1.0000 |
| 3:113363474:TA:T | donor_loss | 1.0000 |
| 3:113363475:ACCTG:A | donor_loss | 1.0000 |
| 3:113363476:CCTGT:C | donor_loss | 1.0000 |
| 3:113363528:CCAAA:C | acceptor_gain | 1.0000 |
| 3:113363529:CAAA:C | acceptor_gain | 1.0000 |
| 3:113363529:CAAAC:C | acceptor_gain | 1.0000 |
| 3:113363531:AA:A | acceptor_gain | 1.0000 |
| 3:113363533:C:CC | acceptor_gain | 1.0000 |
| 3:113363535:A:C | acceptor_gain | 1.0000 |
| 3:113373409:A:AC | donor_gain | 1.0000 |
| 3:113373410:C:CC | donor_gain | 1.0000 |
| 3:113396516:ACC:A | donor_gain | 1.0000 |
| 3:113396517:CCC:C | donor_gain | 1.0000 |
| 3:113399900:ACTT:A | donor_loss | 1.0000 |
| 3:113399901:CTTA:C | donor_loss | 1.0000 |
| 3:113399903:TACC:T | donor_loss | 1.0000 |
| 3:113399936:T:TA | donor_gain | 1.0000 |
| 3:113399996:AGAGC:A | acceptor_gain | 1.0000 |
| 3:113399997:GAGC:G | acceptor_gain | 1.0000 |
| 3:113399998:AGC:A | acceptor_gain | 1.0000 |
| 3:113399999:GC:G | acceptor_gain | 1.0000 |
| 3:113400000:CC:C | acceptor_gain | 1.0000 |
| 3:113400001:C:CC | acceptor_gain | 1.0000 |
| 3:113400001:CT:C | acceptor_loss | 1.0000 |
AlphaMissense
12367 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:113401736:A:G | W392R | 0.999 |
| 3:113401736:A:T | W392R | 0.999 |
| 3:113403980:A:G | W348R | 0.999 |
| 3:113403980:A:T | W348R | 0.999 |
| 3:113341765:C:G | R1139P | 0.998 |
| 3:113304017:A:G | L1659P | 0.997 |
| 3:113304029:C:G | R1655P | 0.997 |
| 3:113305130:A:G | L1594P | 0.997 |
| 3:113327692:A:G | L1415P | 0.997 |
| 3:113403978:C:A | W348C | 0.997 |
| 3:113403978:C:G | W348C | 0.997 |
| 3:113409221:A:G | W259R | 0.997 |
| 3:113409221:A:T | W259R | 0.997 |
| 3:113303954:A:G | L1680P | 0.996 |
| 3:113303963:C:G | R1677P | 0.996 |
| 3:113304038:A:G | L1652P | 0.996 |
| 3:113327785:A:G | L1384P | 0.996 |
| 3:113333490:C:A | K1177N | 0.996 |
| 3:113333490:C:G | K1177N | 0.996 |
| 3:113333522:C:G | A1167P | 0.996 |
| 3:113396675:C:G | R541P | 0.996 |
| 3:113403985:A:G | L346P | 0.996 |
| 3:113407037:A:G | W299R | 0.996 |
| 3:113407037:A:T | W299R | 0.996 |
| 3:113409227:A:G | W257R | 0.996 |
| 3:113409227:A:T | W257R | 0.996 |
| 3:113305094:C:G | R1606P | 0.995 |
| 3:113306292:C:G | R1556P | 0.995 |
| 3:113366262:C:G | R831P | 0.995 |
| 3:113401262:A:G | L451P | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000057792 (3:113313708 A>C,T), RS1000108264 (3:113368406 A>G), RS1000124400 (3:113441864 C>T), RS1000128218 (3:113398899 G>C), RS1000149208 (3:113386556 G>A,T), RS1000161099 (3:113346207 C>T), RS1000161855 (3:113423843 G>A), RS1000173270 (3:113300567 G>T), RS1000179539 (3:113369994 T>C), RS1000184101 (3:113312763 G>A,C), RS1000191490 (3:113299854 C>T), RS1000271492 (3:113325428 A>C), RS1000276247 (3:113374661 G>A,T), RS1000278358 (3:113405726 C>T), RS1000299523 (3:113306231 G>A)
Disease associations
OMIM: gene MIM:617559 | disease phenotypes: MIM:617593
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 20 | Moderate | Autosomal recessive |
| non-syndromic male infertility due to sperm motility disorder | Supportive | Autosomal recessive |
Mondo (2): spermatogenic failure 20 (MONDO:0054724), (MONDO:0017173)
Orphanet (0):
HPO phenotypes
6 total (6 of 6 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003251 | Male infertility |
| HP:0011462 | Young adult onset |
| HP:0032558 | Absent sperm flagella |
| HP:0032559 | Short sperm flagella |
| HP:0032560 | Coiled sperm flagella |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_7 | Prostate cancer | 4.000000e-13 |
| GCST002642_1 | Response to simvastatin treatment (PCSK9 protein level change) | 8.000000e-08 |
| GCST005149_18 | Colorectal cancer | 6.000000e-07 |
| GCST012034_4 | Sleep (1/2-day periodicity) | 4.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006899 | PCSK9 protein measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs13064411 | Efficacy | 3 | HMG-CoA reductase inhibitors |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs13064411 | CFAP44 | 3 | 2.50 | 1 | HMG-CoA reductase inhibitors |
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 5 |
| sodium arsenite | decreases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Methotrexate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Thimerosal | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Triclosan | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: spermatogenic failure 20
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): spermatogenic failure 20