CFAP251
gene geneOn this page
Also known as MGC33630CaM-IP4
Summary
CFAP251 (cilia and flagella associated protein 251, HGNC:28506) is a protein-coding gene on chromosome 12q24.31, encoding Cilia- and flagella-associated protein 251 (Q8TBY9). Involved in spermatozoa motility.
This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 144406 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 33 (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 15
- Clinical variants (ClinVar): 228 total — 6 pathogenic, 4 likely-pathogenic
- Phenotypes (HPO): 8
- MANE Select transcript:
NM_144668
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28506 |
| Approved symbol | CFAP251 |
| Name | cilia and flagella associated protein 251 |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC33630, CaM-IP4 |
| Ensembl gene | ENSG00000158023 |
| Ensembl biotype | protein_coding |
| OMIM | 618146 |
| Entrez | 144406 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 6 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000288912, ENST00000397454, ENST00000428465, ENST00000535257, ENST00000540779, ENST00000543211, ENST00000545752, ENST00000545988, ENST00000546044, ENST00000880754, ENST00000880755, ENST00000880756, ENST00000969643
RefSeq mRNA: 2 — MANE Select: NM_144668
NM_001178003, NM_144668
CCDS: CCDS41853, CCDS53840
Canonical transcript exons
ENST00000288912 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001036597 | 121975244 | 121975334 |
| ENSE00001036609 | 121975542 | 121975685 |
| ENSE00001112069 | 121999716 | 121999944 |
| ENSE00001190266 | 121961978 | 121962162 |
| ENSE00001190271 | 121960585 | 121960758 |
| ENSE00001190275 | 121958943 | 121959094 |
| ENSE00001190287 | 121954120 | 121954334 |
| ENSE00001213624 | 121931746 | 121931886 |
| ENSE00001213643 | 121921286 | 121921683 |
| ENSE00001281051 | 121951480 | 121951530 |
| ENSE00001312649 | 121948984 | 121949061 |
| ENSE00001328153 | 121934247 | 121934356 |
| ENSE00002255783 | 121918592 | 121918695 |
| ENSE00003479770 | 121957074 | 121957268 |
| ENSE00003482834 | 121968006 | 121968169 |
| ENSE00003493958 | 121923622 | 121923990 |
| ENSE00003545474 | 122003652 | 122003919 |
| ENSE00003551702 | 122001497 | 122001598 |
| ENSE00003638717 | 121942895 | 121942975 |
| ENSE00003660620 | 121942534 | 121942645 |
| ENSE00003663832 | 121958272 | 121958522 |
| ENSE00003671659 | 121966955 | 121967069 |
Expression profiles
Bgee: expression breadth ubiquitous, 177 present calls, max score 97.07.
FANTOM5 (CAGE): breadth broad, TPM avg 1.9073 / max 107.8093, expressed in 630 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128478 | 1.4942 | 542 |
| 128477 | 0.3339 | 151 |
| 128479 | 0.0542 | 21 |
| 128493 | 0.0250 | 10 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 97.07 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.65 | gold quality |
| bronchus | UBERON:0002185 | 95.26 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.35 | gold quality |
| sperm | CL:0000019 | 93.94 | gold quality |
| oviduct epithelium | UBERON:0004804 | 91.93 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 86.64 | gold quality |
| left testis | UBERON:0004533 | 85.60 | gold quality |
| right testis | UBERON:0004534 | 84.99 | gold quality |
| fallopian tube | UBERON:0003889 | 84.92 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 84.76 | gold quality |
| nasopharynx | UBERON:0001728 | 84.75 | gold quality |
| adenohypophysis | UBERON:0002196 | 84.73 | gold quality |
| testis | UBERON:0000473 | 84.37 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.53 | gold quality |
| pituitary gland | UBERON:0000007 | 83.24 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.75 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 82.09 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.40 | gold quality |
| thyroid gland | UBERON:0002046 | 81.14 | gold quality |
| oocyte | CL:0000023 | 80.83 | gold quality |
| secondary oocyte | CL:0000655 | 79.51 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 79.32 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 78.13 | silver quality |
| endocervix | UBERON:0000458 | 77.78 | gold quality |
| metanephros cortex | UBERON:0010533 | 77.53 | gold quality |
| caput epididymis | UBERON:0004358 | 76.43 | gold quality |
| left uterine tube | UBERON:0001303 | 74.27 | gold quality |
| skin of leg | UBERON:0001511 | 73.97 | gold quality |
| nucleus accumbens | UBERON:0001882 | 73.42 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.53 |
| E-MTAB-9388 | yes | 6.56 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting CFAP251, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-190B-3P | 99.33 | 68.29 | 1382 |
| HSA-MIR-4744 | 99.01 | 69.91 | 1581 |
| HSA-MIR-513B-3P | 98.76 | 68.12 | 1577 |
Literature-anchored findings (GeneRIF, showing 9)
- Indicates that an intronic SNP in the WDR66 gene associates with 2-hydroxyisobutyrate concentrations. (PMID:21572414)
- Analysis of indel variations in the human disease-associated genes CDKN2AIP, WDR66, USP20 and OR7C2 in a Korean population. (PMID:22552337)
- WDR66 expression is likely to play an important role in esophageal squamous cell carcinoma growth and invasion as a positive modulator of epithelial-mesenchymal transition. (PMID:23514407)
- WDR66 as a gene associated with the MMAF phenotype and highlighting the importance of the WDR66 C-terminal region. (PMID:30122540)
- Biallelic mutations of CFAP251 is associated with sperm flagellar defects and male infertility. (PMID:30310178)
- WDR66 expression was identified to be inversely associated with PTEN expression and negatively correlated with the overall survival of patients with salivary adenoid cystic carcinoma (SACC). Collectively, the results of the study revealed a novel function of WDR66 in mediating the progression of PTENdeficient SACCs. (PMID:30569117)
- WDR66 expression is regulated by Lin28a and FBXL19-AS1 in breast cancer. (PMID:31140103)
- Eukaryotic initiation Factor 4AIII facilitates hepatocellular carcinoma cell proliferation, migration, and epithelial-mesenchymal transition process via antagonistically binding to WD repeat domain 66 with miRNA-2113. (PMID:31975383)
- Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. (PMID:32161152)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cfap251 | ENSDARG00000059855 |
| mus_musculus | Cfap251 | ENSMUSG00000029442 |
| rattus_norvegicus | Cfap251 | ENSRNOG00000001342 |
| rattus_norvegicus | ENSRNOG00000085554 |
Paralogs (9): EML1 (ENSG00000066629), EML2 (ENSG00000125746), EML4 (ENSG00000143924), EML3 (ENSG00000149499), WDR90 (ENSG00000161996), EML5 (ENSG00000165521), CFAP52 (ENSG00000166596), CFAP44 (ENSG00000206530), EML6 (ENSG00000214595)
Protein
Protein identifiers
Cilia- and flagella-associated protein 251 — Q8TBY9 (reviewed: Q8TBY9)
Alternative names: WD repeat-containing protein 66
All UniProt accessions (1): Q8TBY9
UniProt curated annotations — full annotation on UniProt →
Function. Involved in spermatozoa motility. May also regulate cilium motility through its role in the assembly of the axonemal radial spokes.
Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Cell projection. Cilium. Flagellum.
Tissue specificity. Isoform 1 is highly expressed in testis and, at lower levels, in lung. Very low levels are detected in kidney and brain. In testis, expressed in spermatozoa (at protein level). Isoform 2 is not detected in testis, lung, kidney, nor in brain.
Disease relevance. Spermatogenic failure 33 (SPGF33) [MIM:618152] An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including short, bent, curled, thick, or absent flagella. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TBY9-1 | 1, T1 | yes |
| Q8TBY9-2 | 2, T2 | |
| Q8TBY9-3 | 3 |
RefSeq proteins (2): NP_001171474, NP_653269* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR011047 | Quinoprotein_ADH-like_sf | Homologous_superfamily |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR050630 | WD_repeat_EMAP | Family |
Pfam: PF00400
UniProt features (39 total): repeat 14, compositionally biased region 8, sequence variant 5, sequence conflict 5, splice variant 4, region of interest 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-Q8TBY9-F1 | 76.84 | 0.50 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 103 (showing top):
RICKMAN_METASTASIS_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, RGAGGAARY_PU1_Q6, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_SPERM_MIDPIECE, GOCC_CILIUM, chr12q24, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, TST1_01, FORTSCHEGGER_PHF8_TARGETS_DN
GO Biological Process (2): cilium movement (GO:0003341), flagellated sperm motility (GO:0030317)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): axoneme (GO:0005930), motile cilium (GO:0031514), sperm flagellum (GO:0036126), radial spoke stalk (GO:0001536), 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-based movement | 1 |
| cilium-dependent cell motility | 1 |
| cilium movement involved in cell motility | 1 |
| sperm motility | 1 |
| binding | 1 |
| cytoskeleton | 1 |
| microtubule | 1 |
| ciliary plasm | 1 |
| cilium | 1 |
| 9+2 motile cilium | 1 |
| radial spoke | 1 |
| protein-containing complex | 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
1038 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CFAP251 | CFAP91 | Q7Z4T9 | 817 |
| CFAP251 | CFAP43 | Q8NDM7 | 798 |
| CFAP251 | CFAP61 | Q8NHU2 | 784 |
| CFAP251 | CFAP69 | A5D8W1 | 715 |
| CFAP251 | DNAH1 | Q9P2D7 | 652 |
| CFAP251 | QRICH2 | Q9H0J4 | 640 |
| CFAP251 | ARMC2 | Q8NEN0 | 640 |
| CFAP251 | CFAP70 | Q5T0N1 | 637 |
| CFAP251 | TTC21A | Q8NDW8 | 634 |
| CFAP251 | FSIP2 | Q5CZC0 | 624 |
| CFAP251 | TTC29 | Q8NA56 | 612 |
| CFAP251 | SPEF2 | Q9C093 | 589 |
| CFAP251 | CFAP58 | Q5T655 | 582 |
| CFAP251 | KRTAP20-3 | Q3LI60 | 570 |
| CFAP251 | DNAH6 | Q9C0G6 | 546 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNAJC7 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF397 | ZNF213 | psi-mi:“MI:0914”(association) | 0.640 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| HSPB1 | CFAP251 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DNAJA2 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (5): WDR66 (Two-hybrid), WDR66 (Biochemical Activity), WDR66 (Affinity Capture-MS), WDR66 (Affinity Capture-RNA), WDR66 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2KIZ8, A0A1L8GXY4, A0A571BF63, A0A8M9QN10, A2CEI4, A2RRP1, A4D1P6, A6H8T2, A9X1C6, B0FXQ5, B1WC10, B2KIQ4, B2RY71, B2RYI0, B7FF09, B7FF12, E9PYY5, F1QHZ6, Q1LXZ7, Q2HJE1, Q3UMY5, Q402B2, Q4V8G4, Q5R6T6, Q5RE88, Q5U1Z0, Q5VTH9, Q5XIZ9, Q5ZLL7, Q6DFC6, Q6DTM3, Q6GPB9, Q6P2C0, Q6TEN6, Q7TMQ7, Q7ZVR1, Q8BMG7, Q8BX17, Q8C147, Q8IWG1
Diamond homologs: E9Q743, Q5RE88, Q8TBY9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
228 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 4 |
| Uncertain significance | 150 |
| Likely benign | 27 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (10)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2636927 | NM_144668.6(CFAP251):c.799C>T (p.Arg267Ter) | Pathogenic |
| 3382462 | NM_144668.6(CFAP251):c.1930_1931del (p.Arg644fs) | Pathogenic |
| 3382463 | NM_144668.6(CFAP251):c.202del (p.Glu68fs) | Pathogenic |
| 545693 | NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs) | Pathogenic |
| 548450 | NM_144668.6(CFAP251):c.123del (p.Asp42fs) | Pathogenic |
| 586974 | NM_144668.6(CFAP251):c.3007-4915_3338-930del | Pathogenic |
| 3780799 | NM_144668.6(CFAP251):c.385C>T (p.Gln129Ter) | Likely pathogenic |
| 3780800 | NM_144668.6(CFAP251):c.186_187insAGGAGGAGGAGGAGAAA (p.Glu63fs) | Likely pathogenic |
| 3780801 | NM_144668.6(CFAP251):c.196_197insAGAAAGGAGGAGG (p.Gly66fs) | Likely pathogenic |
| 4845783 | NM_144668.6(CFAP251):c.1304dup (p.Leu436fs) | Likely pathogenic |
SpliceAI
3691 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:121923989:TGGT:T | donor_loss | 1.0000 |
| 12:121923990:GGTA:G | donor_loss | 1.0000 |
| 12:121923991:G:C | donor_loss | 1.0000 |
| 12:121923992:T:G | donor_loss | 1.0000 |
| 12:121931883:TCAGG:T | donor_loss | 1.0000 |
| 12:121931886:GG:G | donor_loss | 1.0000 |
| 12:121931888:T:G | donor_loss | 1.0000 |
| 12:121934355:GG:G | donor_gain | 1.0000 |
| 12:121934356:GG:G | donor_gain | 1.0000 |
| 12:121942532:A:AG | acceptor_gain | 1.0000 |
| 12:121942533:G:GG | acceptor_gain | 1.0000 |
| 12:121942893:A:AG | acceptor_gain | 1.0000 |
| 12:121942894:G:GG | acceptor_gain | 1.0000 |
| 12:121951478:A:AG | acceptor_gain | 1.0000 |
| 12:121951479:G:GG | acceptor_gain | 1.0000 |
| 12:121968001:TCTA:T | acceptor_loss | 1.0000 |
| 12:121968002:CTA:C | acceptor_loss | 1.0000 |
| 12:121968003:TA:T | acceptor_loss | 1.0000 |
| 12:121968004:A:AC | acceptor_loss | 1.0000 |
| 12:121968004:AGGTG:A | acceptor_gain | 1.0000 |
| 12:121968005:GGT:G | acceptor_gain | 1.0000 |
| 12:121968005:GGTGG:G | acceptor_gain | 1.0000 |
| 12:121968145:T:TA | donor_gain | 1.0000 |
| 12:121968146:G:GA | donor_gain | 1.0000 |
| 12:121968171:T:G | donor_loss | 1.0000 |
| 12:121975333:GG:G | donor_gain | 1.0000 |
| 12:121975334:GG:G | donor_gain | 1.0000 |
| 12:121975530:A:AG | acceptor_gain | 1.0000 |
| 12:121975531:T:G | acceptor_gain | 1.0000 |
| 12:121975538:ATAG:A | acceptor_gain | 1.0000 |
AlphaMissense
7582 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:121960735:A:C | S762R | 0.999 |
| 12:121960737:C:A | S762R | 0.999 |
| 12:121960737:C:G | S762R | 0.999 |
| 12:121942913:T:A | W377R | 0.998 |
| 12:121942913:T:C | W377R | 0.998 |
| 12:121949026:A:C | S412R | 0.998 |
| 12:121949028:C:A | S412R | 0.998 |
| 12:121949028:C:G | S412R | 0.998 |
| 12:121968153:T:A | W919R | 0.997 |
| 12:121968153:T:C | W919R | 0.997 |
| 12:121934340:T:A | W328R | 0.996 |
| 12:121934340:T:C | W328R | 0.996 |
| 12:121959086:G:C | A709P | 0.996 |
| 12:121960642:T:A | W731R | 0.996 |
| 12:121960642:T:C | W731R | 0.996 |
| 12:121960696:T:C | F749L | 0.996 |
| 12:121960698:T:A | F749L | 0.996 |
| 12:121960698:T:G | F749L | 0.996 |
| 12:121960741:G:T | G764W | 0.996 |
| 12:121961984:T:G | Y772D | 0.995 |
| 12:121954216:T:A | W473R | 0.994 |
| 12:121954216:T:C | W473R | 0.994 |
| 12:121958414:A:C | S625R | 0.994 |
| 12:121958416:C:A | S625R | 0.994 |
| 12:121958416:C:G | S625R | 0.994 |
| 12:121958988:T:C | L676P | 0.994 |
| 12:121959062:T:C | F701L | 0.994 |
| 12:121959064:T:A | F701L | 0.994 |
| 12:121959064:T:G | F701L | 0.994 |
| 12:121959092:G:C | A711P | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000014411 (12:121957519 A>G), RS1000024563 (12:121922951 A>G), RS1000041263 (12:121930269 A>C), RS1000042344 (12:121950254 T>A,C), RS1000092876 (12:122000077 A>G), RS1000106760 (12:121952459 C>T), RS1000108624 (12:121964446 T>C), RS1000166678 (12:121992502 T>A), RS1000218592 (12:121945372 C>T), RS1000309236 (12:121989029 C>T), RS1000320320 (12:121923148 C>T), RS1000359339 (12:121981645 C>T), RS1000423863 (12:121953350 C>T), RS1000449567 (12:121994975 AAAT>A), RS1000457427 (12:121996974 C>G)
Disease associations
OMIM: gene MIM:618146 | disease phenotypes: MIM:618152, MIM:617576
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 33 | Strong | Autosomal recessive |
| non-syndromic male infertility due to sperm motility disorder | Supportive | Autosomal recessive |
Mondo (4): spermatogenic failure 33 (MONDO:0029147), male infertility with teratozoospermia due to single gene mutation (MONDO:0018394), spermatogenic failure 18 (MONDO:0054615), (MONDO:0017173)
Orphanet (2): Non-syndromic male infertility due to sperm motility disorder (Orphanet:276234), Male infertility with teratozoospermia due to single gene mutation (Orphanet:399808)
HPO phenotypes
8 total (8 of 8 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| 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:0033393 | Irregularly shaped sperm tail |
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000305_3 | Mean platelet volume | 7.000000e-48 |
| GCST000497_8 | Mean platelet volume | 3.000000e-44 |
| GCST001073_1 | Urinary metabolites | 1.000000e-46 |
| GCST001335_24 | Mean platelet volume | 1.000000e-103 |
| GCST001337_39 | Platelet count | 1.000000e-10 |
| GCST002184_10 | Mean platelet volume | 6.000000e-38 |
| GCST004599_197 | Mean platelet volume | 8.000000e-177 |
| GCST008129_77 | Body mass index | 3.000000e-10 |
| GCST008167_4 | Mean platelet volume | 8.000000e-11 |
| GCST010231_1 | Mean platelet volume | 7.000000e-20 |
| GCST012020_192 | Serum metabolite levels | 2.000000e-19 |
| GCST012021_117 | Serum metabolite levels | 2.000000e-19 |
| GCST90002395_147 | Mean platelet volume | 2.000000e-10 |
| GCST90020025_105 | Waist-to-hip ratio adjusted for BMI | 2.000000e-11 |
| GCST90020027_1683 | Waist-hip index | 3.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004725 | metabolite measurement |
| EFO:0004309 | platelet count |
| EFO:0004340 | body mass index |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, affects methylation | 3 |
| Smoke | decreases expression, increases abundance, increases expression | 3 |
| aristolochic acid I | increases expression | 1 |
| daidzein | affects cotreatment, affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| daidzin | affects cotreatment, affects expression | 1 |
| sulforaphane | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, increases abundance, increases expression | 1 |
| genistin | affects cotreatment, affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| glycitein | affects cotreatment, affects expression | 1 |
| entinostat | increases expression | 1 |
| glycitin | affects cotreatment, affects expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Decitabine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Oxygen | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: spermatogenic failure 33
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): male infertility with teratozoospermia due to single gene mutation, spermatogenic failure 18, spermatogenic failure 33