BOLL
geneOn this page
Also known as BOULE
Summary
BOLL (boule RNA binding protein, HGNC:14273) is a protein-coding gene on chromosome 2q33.1, encoding Protein boule-like (Q8N9W6). Probable RNA-binding protein, which may be required during spermatogenesis.
This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Source: NCBI Gene 66037 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 46 total
- MANE Select transcript:
NM_033030
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14273 |
| Approved symbol | BOLL |
| Name | boule RNA binding protein |
| Location | 2q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BOULE |
| Ensembl gene | ENSG00000152430 |
| Ensembl biotype | protein_coding |
| OMIM | 606165 |
| Entrez | 66037 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000321801, ENST00000392296, ENST00000430004, ENST00000433157, ENST00000434976, ENST00000468827, ENST00000486206, ENST00000696103
RefSeq mRNA: 5 — MANE Select: NM_033030
NM_001284358, NM_001284361, NM_001284362, NM_033030, NM_197970
CCDS: CCDS2324, CCDS2325
Canonical transcript exons
ENST00000392296 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002283182 | 197777059 | 197777113 |
| ENSE00002316144 | 197775665 | 197775740 |
| ENSE00003473014 | 197756428 | 197756556 |
| ENSE00003505764 | 197781722 | 197781865 |
| ENSE00003514990 | 197771855 | 197771982 |
| ENSE00003539782 | 197778975 | 197779066 |
| ENSE00003547716 | 197766532 | 197766603 |
| ENSE00003578526 | 197743061 | 197743159 |
| ENSE00003666160 | 197757353 | 197757400 |
| ENSE00003902208 | 197726890 | 197728578 |
| ENSE00003966008 | 197785056 | 197785319 |
Expression profiles
Bgee: expression breadth broad, 75 present calls, max score 94.82.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2853 / max 284.6346, expressed in 4 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33100 | 0.0864 | 3 |
| 33102 | 0.0626 | 3 |
| 33098 | 0.0525 | 3 |
| 33097 | 0.0505 | 3 |
| 33099 | 0.0233 | 3 |
| 33101 | 0.0071 | 4 |
| 33103 | 0.0029 | 2 |
Top tissues by expression
201 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 94.82 | gold quality |
| adult organism | UBERON:0007023 | 94.70 | gold quality |
| right testis | UBERON:0004534 | 94.57 | gold quality |
| sperm | CL:0000019 | 93.91 | gold quality |
| testis | UBERON:0000473 | 92.00 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.15 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.34 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 78.14 | gold quality |
| tibialis anterior | UBERON:0001385 | 77.96 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 76.99 | gold quality |
| gastrocnemius | UBERON:0001388 | 71.22 | gold quality |
| muscle of leg | UBERON:0001383 | 71.00 | gold quality |
| ileal mucosa | UBERON:0000331 | 67.76 | silver quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 67.18 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 66.45 | gold quality |
| deltoid | UBERON:0001476 | 65.25 | silver quality |
| muscle tissue | UBERON:0002385 | 62.21 | gold quality |
| upper leg skin | UBERON:0004262 | 58.71 | gold quality |
| pancreatic ductal cell | CL:0002079 | 58.70 | silver quality |
| vastus lateralis | UBERON:0001379 | 58.27 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 54.49 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| upper arm skin | UBERON:0004263 | 53.52 | gold quality |
| cerebellar vermis | UBERON:0004720 | 51.65 | gold quality |
| myocardium | UBERON:0002349 | 50.25 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 47.03 | gold quality |
| jejunum | UBERON:0002115 | 44.69 | gold quality |
| thymus | UBERON:0002370 | 44.64 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
114 targeting BOLL, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
Literature-anchored findings (GeneRIF, showing 16)
- BOULE may encode a key conserved switch that regulates progression of germ cells through meiosis in men. (PMID:12499397)
- Role in spermatogenesis. Decreased DAZ proteins in spermatogenic failure may be due to germ cell loss. Transcription of BOULE, DAZL, and DAZ not altered in degrees of spermatogenic failure. No increase of DAZL or BOULE found in DAZ deletion. (PMID:15066460)
- Major group of infertile men with meiotic arrest lack BOULE protein and its putative target, CDC25A expression. Spermatogenic failure may arise from factor(s) upstream of BOULE possibly involved in regulating transcription and/or translation of BOULE. (PMID:15070965)
- BOULE coding sequence mutations are not an important factor in the aetiology of azoospermia. (PMID:15379971)
- mutations in BOULE can be eliminated as a major cause of impaired spermatogenesis. (PMID:15705409)
- Among the three BOULE isoforms, B2 might have the major role for meiotic completion. (PMID:17114206)
- expression of spermatogenic phenotypes of partial AZFc deletions is independent of the variations in DAZL and BOULE in the Han population (PMID:19342699)
- CDC25A is subject to translational control by BOLL, which is an evolutionarily conserved mechanism. (PMID:19417033)
- human DAZL (deleted in azoospermia-like) functions in primordial germ-cell formation, whereas closely related genes DAZ and BOULE (also called BOLL) promote later stages of meiosis and development of haploid gametes (PMID:19865085)
- Assessing the expression of both CDY1 and BOULE by qualitative RT-PCR is a sensitive and feasible test for predicting the presence of sperm cells in testicular tissue biopsies. (PMID:21474125)
- demonstrate that Boll is also transiently expressed during oogenesis in the fetal mouse ovary, but is simultaneously co-expressed within the same germ cells as Dazl (PMID:24086306)
- Our study demonstrated an oncogenic role of BOLL in CRC despite tumor-specific promoter hypermethylation. (PMID:25605553)
- hypermethylation of DAZL and BOULE promoters in human sperm is associated with human infertility (PMID:27358391)
- Four sterility-related genes, including BOLL, DDX4, HORMAD1, and MAEL, were found to have increased methylation at CpGs of the promoter regions and decreased mRNA expressions in nonobstructive azoospermia and hypospermatogenesis (HS) testis and are believed to be associated with HS. (PMID:28342926)
- Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes. (PMID:34653405)
- Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India. (PMID:37957469)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Boll | ENSMUSG00000025977 |
| rattus_norvegicus | Boll | ENSRNOG00000054379 |
| drosophila_melanogaster | bol | FBGN0011206 |
| caenorhabditis_elegans | WBGENE00000935 |
Paralogs (5): DAZL (ENSG00000092345), DAZ3 (ENSG00000187191), DAZ1 (ENSG00000188120), DAZ4 (ENSG00000205916), DAZ2 (ENSG00000205944)
Protein
Protein identifiers
Protein boule-like — Q8N9W6 (reviewed: Q8N9W6)
All UniProt accessions (4): Q8N9W6, A0A8Q3WL03, F2Z2G3, F8WD91
UniProt curated annotations — full annotation on UniProt →
Function. Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3’-UTR of mRNAs and regulating their translation.
Subunit / interactions. Interacts with DAZ1 and DAZL.
Subcellular location. Cytoplasm.
Tissue specificity. Testis specific. Not expressed in early embryos, primordial germ cells and spermatogonial cells. First expressed in the cytoplasm of spermatocytes and then persists through meiosis.
Similarity. Belongs to the RRM DAZ family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N9W6-1 | 1, BOULE2 | yes |
| Q8N9W6-2 | 2 | |
| Q8N9W6-3 | 3, BOULE1 | |
| Q8N9W6-4 | 4, BOULE3 | |
| Q8N9W6-5 | 5 |
RefSeq proteins (5): NP_001271287, NP_001271290, NP_001271291, NP_149019, NP_932074 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR043628 | DAZ_dom | Domain |
Pfam: PF00076
UniProt features (11 total): splice variant 6, domain 2, chain 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N9W6-F1 | 64.18 | 0.25 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 118 (showing top):
GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, ATACCTC_MIR202, GOBP_3_UTR_MEDIATED_MRNA_STABILIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_TRANSLATIONAL_INITIATION, GOBP_MALE_GAMETE_GENERATION, GOBP_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_TRANSLATIONAL_INITIATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSLATION_REGULATOR_ACTIVITY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, BROWN_MYELOID_CELL_DEVELOPMENT_UP, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, WEBER_METHYLATED_HCP_IN_SPERM_UP, WEBER_METHYLATED_HCP_IN_FIBROBLAST_DN
GO Biological Process (6): spermatogenesis (GO:0007283), cell differentiation (GO:0030154), positive regulation of translational initiation (GO:0045948), meiotic cell cycle (GO:0051321), 3’-UTR-mediated mRNA stabilization (GO:0070935), regulation of translation (GO:0006417)
GO Molecular Function (6): mRNA 3’-UTR binding (GO:0003730), translation activator activity (GO:0008494), identical protein binding (GO:0042802), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of translation | 2 |
| binding | 2 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| translational initiation | 1 |
| regulation of translational initiation | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| meiotic nuclear division | 1 |
| mRNA stabilization | 1 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| mRNA binding | 1 |
| translation regulator activity | 1 |
| protein binding | 1 |
| nucleic acid binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1798 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BOLL | PUM2 | Q8TB72 | 862 |
| BOLL | DAZAP2 | Q15038 | 835 |
| BOLL | CDC25A | P30304 | 773 |
| BOLL | PABPC1 | P11940 | 759 |
| BOLL | DDX4 | Q9NQI0 | 759 |
| BOLL | SYCP3 | Q8IZU3 | 732 |
| BOLL | ACR | P10323 | 652 |
| BOLL | CDC25B | P30305 | 585 |
| BOLL | TEKT1 | Q969V4 | 574 |
| BOLL | STRA8 | Q7Z7C7 | 542 |
| BOLL | NANOS3 | P60323 | 520 |
| BOLL | CPEB1 | Q9BZB8 | 500 |
| BOLL | GDF9 | O60383 | 492 |
| BOLL | CDC25C | P30307 | 487 |
| BOLL | PRM2 | P04554 | 480 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF385C | BOLL | psi-mi:“MI:0915”(physical association) | 0.680 |
| BOLL | ZNF385C | psi-mi:“MI:0915”(physical association) | 0.680 |
| RBFOX2 | BOLL | psi-mi:“MI:0915”(physical association) | 0.670 |
| BOLL | HNRNPLL | psi-mi:“MI:0915”(physical association) | 0.670 |
| HNRNPLL | BOLL | psi-mi:“MI:0915”(physical association) | 0.670 |
| TFG | BOLL | psi-mi:“MI:0915”(physical association) | 0.610 |
| BOLL | TFG | psi-mi:“MI:0915”(physical association) | 0.610 |
| NPBWR2 | BOLL | psi-mi:“MI:0915”(physical association) | 0.560 |
| C1orf94 | BOLL | psi-mi:“MI:0915”(physical association) | 0.560 |
| BOLL | psi-mi:“MI:0915”(physical association) | 0.560 | |
| BOLL | RBPMS | psi-mi:“MI:0915”(physical association) | 0.560 |
| BOLL | NPBWR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BOLL | C1orf94 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BOLL | psi-mi:“MI:0915”(physical association) | 0.560 | |
| RBPMS | BOLL | psi-mi:“MI:0915”(physical association) | 0.560 |
| DAZ1 | BOLL | psi-mi:“MI:0915”(physical association) | 0.550 |
BioGRID (50): BOLL (Two-hybrid), BOLL (Two-hybrid), BOLL (Two-hybrid), BOLL (Two-hybrid), BOLL (Two-hybrid), C1orf94 (Two-hybrid), HNRNPLL (Two-hybrid), ZNF385C (Two-hybrid), UBA5 (Affinity Capture-MS), CDC20B (Affinity Capture-MS), ACY1 (Affinity Capture-MS), CDC20B (Affinity Capture-MS), UBA5 (Affinity Capture-MS), ACY1 (Affinity Capture-MS), BOLL (Two-hybrid)
ESM2 similar proteins: A0A8M1NHK4, A0AV96, A4F5G6, A4IHD9, A6QPR6, B2RWS6, B3M3R5, B3NGA1, B4HUE4, B4IX08, B4KX02, B4LFQ9, B4MM23, B4PIS2, B4QRJ0, G0SB31, O43251, P11420, Q02926, Q09472, Q14671, Q21955, Q24207, Q29A33, Q2VB19, Q5R5P4, Q5R5X3, Q5R8K4, Q66H68, Q66JB7, Q7PMS9, Q7TSH6, Q7ZT82, Q7ZXV8, Q80U58, Q80U78, Q8BIF2, Q8MSV2, Q8N9W6, Q8R205
Diamond homologs: A0A0D1C8Z4, A1A5R1, A1D4K4, A2A5N3, A2Q848, A3LXL0, A4F5G6, A5DW14, A6NFN3, A6QPR6, F1QB54, F4HT49, O04319, O43251, P04147, P0CB38, P11940, P15771, P19682, P19683, P20965, P23246, P28644, P29341, P42731, P49313, P60824, P60825, P60826, P61286, P62995, P62996, P62997, P82277, Q04836, Q08935, Q08937, Q09511, Q0CR95, Q0VD23
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2056 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:197743055:TCTTA:T | donor_loss | 1.0000 |
| 2:197743056:CTTAC:C | donor_loss | 1.0000 |
| 2:197743057:TTA:T | donor_loss | 1.0000 |
| 2:197743058:TA:T | donor_loss | 1.0000 |
| 2:197743059:A:AC | donor_gain | 1.0000 |
| 2:197743059:ACTTT:A | donor_loss | 1.0000 |
| 2:197743060:C:A | donor_loss | 1.0000 |
| 2:197743060:C:CA | donor_gain | 1.0000 |
| 2:197743060:CTTTA:C | donor_gain | 1.0000 |
| 2:197743155:TAAGG:T | acceptor_gain | 1.0000 |
| 2:197743158:GG:G | acceptor_gain | 1.0000 |
| 2:197743158:GGCTA:G | acceptor_loss | 1.0000 |
| 2:197743159:GCTAT:G | acceptor_loss | 1.0000 |
| 2:197743160:C:CC | acceptor_gain | 1.0000 |
| 2:197743163:T:C | acceptor_gain | 1.0000 |
| 2:197743163:T:TC | acceptor_gain | 1.0000 |
| 2:197756423:CATA:C | donor_loss | 1.0000 |
| 2:197756424:ATAC:A | donor_loss | 1.0000 |
| 2:197756427:C:CT | donor_loss | 1.0000 |
| 2:197756557:C:CC | acceptor_gain | 1.0000 |
| 2:197759010:C:CT | acceptor_gain | 1.0000 |
| 2:197771853:A:AC | donor_gain | 1.0000 |
| 2:197771853:ACAGG:A | donor_gain | 1.0000 |
| 2:197771854:C:CC | donor_gain | 1.0000 |
| 2:197771854:CAGG:C | donor_gain | 1.0000 |
| 2:197771854:CAGGC:C | donor_gain | 1.0000 |
| 2:197775663:A:AC | donor_gain | 1.0000 |
| 2:197775664:C:CC | donor_gain | 1.0000 |
| 2:197775664:CGA:C | donor_gain | 1.0000 |
| 2:197775676:A:AC | donor_gain | 1.0000 |
AlphaMissense
1822 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:197775694:G:T | A108E | 1.000 |
| 2:197775709:A:G | L103P | 1.000 |
| 2:197777096:A:G | F80S | 1.000 |
| 2:197777102:A:T | V78D | 1.000 |
| 2:197777104:G:C | F77L | 1.000 |
| 2:197777104:G:T | F77L | 1.000 |
| 2:197777105:A:C | F77C | 1.000 |
| 2:197777105:A:G | F77S | 1.000 |
| 2:197777106:A:C | F77V | 1.000 |
| 2:197777106:A:G | F77L | 1.000 |
| 2:197777108:C:T | G76D | 1.000 |
| 2:197777112:A:C | Y75D | 1.000 |
| 2:197777112:A:G | Y75H | 1.000 |
| 2:197778975:C:T | G74E | 1.000 |
| 2:197778977:T:A | K73N | 1.000 |
| 2:197778977:T:G | K73N | 1.000 |
| 2:197778978:T:A | K73I | 1.000 |
| 2:197778979:T:C | K73E | 1.000 |
| 2:197779026:C:T | G57E | 1.000 |
| 2:197779050:A:G | L49S | 1.000 |
| 2:197781735:C:T | G39E | 1.000 |
| 2:197781738:C:T | G38E | 1.000 |
| 2:197781741:A:T | V37E | 1.000 |
| 2:197781743:A:C | F36L | 1.000 |
| 2:197781743:A:T | F36L | 1.000 |
| 2:197781744:A:C | F36C | 1.000 |
| 2:197781744:A:G | F36S | 1.000 |
| 2:197781745:A:C | F36V | 1.000 |
| 2:197781745:A:G | F36L | 1.000 |
| 2:197781750:C:G | R34P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000015602 (2:197762966 G>A), RS1000030694 (2:197741056 A>G), RS1000122600 (2:197777436 T>A), RS1000161746 (2:197749012 C>T), RS1000167671 (2:197785405 G>A,C), RS1000171752 (2:197773933 A>C,T), RS1000264737 (2:197770929 A>G), RS1000286471 (2:197737800 C>G), RS1000305510 (2:197741046 C>T), RS1000311452 (2:197735144 G>A), RS1000329918 (2:197781321 C>T), RS1000418884 (2:197778756 T>C), RS1000432474 (2:197773586 G>A), RS1000485862 (2:197755929 C>G,T), RS1000585474 (2:197729104 G>A,T)
Disease associations
OMIM: gene MIM:606165 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000262_1 | Intracranial aneurysm | 4.000000e-08 |
| GCST002539_41 | Schizophrenia | 2.000000e-11 |
| GCST004132_35 | Crohn’s disease | 7.000000e-08 |
| GCST004521_180 | Autism spectrum disorder or schizophrenia | 3.000000e-11 |
| GCST004521_275 | Autism spectrum disorder or schizophrenia | 7.000000e-09 |
| GCST005588_16 | Idiopathic dilated cardiomyopathy | 9.000000e-06 |
| GCST006803_21 | Schizophrenia | 4.000000e-13 |
| GCST007293_117 | Body fat distribution (arm fat ratio) | 1.000000e-06 |
| GCST007293_18 | Body fat distribution (arm fat ratio) | 2.000000e-07 |
| GCST007293_44 | Body fat distribution (arm fat ratio) | 8.000000e-11 |
| GCST007294_108 | Body fat distribution (trunk fat ratio) | 4.000000e-06 |
| GCST007294_27 | Body fat distribution (trunk fat ratio) | 3.000000e-09 |
| GCST007565_194 | Morning person | 1.000000e-27 |
| GCST009720_92 | Asthma | 3.000000e-08 |
| GCST010698_25 | Subcortical volume (min-P) | 2.000000e-08 |
| GCST010699_24 | Brain morphology (min-P) | 1.000000e-09 |
| GCST010700_25 | Cortical thickness (MOSTest) | 2.000000e-10 |
| GCST010701_25 | Cortical surface area (MOSTest) | 2.000000e-37 |
| GCST010702_65 | Subcortical volume (MOSTest) | 1.000000e-11 |
| GCST010703_197 | Brain morphology (MOSTest) | 1.000000e-11 |
| GCST010730_2 | Rheumatoid arthritis | 2.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009094 | idiopathic dilated cardiomyopathy |
| EFO:0004341 | body fat distribution |
| EFO:0008328 | chronotype measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| Irinotecan | affects cotreatment, increases response to substance | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Amiodarone | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Leucovorin | increases response to substance, affects cotreatment | 1 |
| Fluorouracil | affects cotreatment, increases response to substance | 1 |
| Valproic Acid | increases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): brain aneurysm, rheumatoid arthritis