ODF2L
gene geneOn this page
Also known as KIAA1229
Summary
ODF2L (outer dense fiber of sperm tails 2 like, HGNC:29225) is a protein-coding gene on chromosome 1p22.3, encoding Protein BCAP (Q9ULJ1). Acts as a suppressor of ciliogenesis, specifically, the initiation of ciliogenesis.
Involved in negative regulation of cilium assembly. Located in centriolar satellite and ciliary basal body.
Source: NCBI Gene 57489 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 121 total
- MANE Select transcript:
NM_001366781
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29225 |
| Approved symbol | ODF2L |
| Name | outer dense fiber of sperm tails 2 like |
| Location | 1p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1229 |
| Ensembl gene | ENSG00000122417 |
| Ensembl biotype | protein_coding |
| OMIM | 620130 |
| Entrez | 57489 |
Gene structure
Transcript identifiers
Ensembl transcripts: 41 — 21 protein_coding, 9 nonsense_mediated_decay, 9 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000294678, ENST00000317336, ENST00000359242, ENST00000370566, ENST00000394733, ENST00000460698, ENST00000462648, ENST00000463933, ENST00000472144, ENST00000472368, ENST00000473792, ENST00000476054, ENST00000478286, ENST00000479890, ENST00000480440, ENST00000486215, ENST00000486557, ENST00000488879, ENST00000496592, ENST00000524695, ENST00000531412, ENST00000534092, ENST00000696297, ENST00000696298, ENST00000696299, ENST00000696300, ENST00000696301, ENST00000696302, ENST00000696303, ENST00000696304, ENST00000696309, ENST00000696310, ENST00000907312, ENST00000926630, ENST00000926631, ENST00000926632, ENST00000926633, ENST00000926634, ENST00000926635, ENST00000945042, ENST00000945043
RefSeq mRNA: 35 — MANE Select: NM_001366781
NM_001007022, NM_001184765, NM_001184766, NM_001366779, NM_001366781, NM_001366782, NM_001366783, NM_001366784, NM_001395519, NM_001395520, NM_001395521, NM_001395522, NM_001395523, NM_001395524, NM_001395525, NM_001395526, NM_001395527, NM_001395528, NM_001395529, NM_001395530, NM_001395531, NM_001395532, NM_001395533, NM_001395534, NM_001395535, NM_001395536, NM_001395537, NM_001395538, NM_001395539, NM_001395540, NM_001395541, NM_001395542, NM_001395543, NM_001395544, NM_020729
CCDS: CCDS30763, CCDS41354, CCDS53339, CCDS90996, CCDS90997
Canonical transcript exons
ENST00000460698 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001799773 | 86356444 | 86356602 |
| ENSE00002154347 | 86346837 | 86348878 |
| ENSE00003460792 | 86372431 | 86372540 |
| ENSE00003481411 | 86352859 | 86352984 |
| ENSE00003499910 | 86358787 | 86358891 |
| ENSE00003510980 | 86384676 | 86384801 |
| ENSE00003526906 | 86376233 | 86376418 |
| ENSE00003534410 | 86382242 | 86382358 |
| ENSE00003544617 | 86383134 | 86383196 |
| ENSE00003552451 | 86360426 | 86360536 |
| ENSE00003559909 | 86354530 | 86354692 |
| ENSE00003581703 | 86371018 | 86371153 |
| ENSE00003623212 | 86382931 | 86383002 |
| ENSE00003623534 | 86385458 | 86385590 |
| ENSE00003674265 | 86354774 | 86354859 |
| ENSE00003966867 | 86386915 | 86387086 |
| ENSE00003966868 | 86396033 | 86396323 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 98.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.1195 / max 329.8220, expressed in 1764 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13104 | 19.5913 | 1758 |
| 13103 | 1.1292 | 588 |
| 13101 | 0.2597 | 128 |
| 13102 | 0.1392 | 40 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.38 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.96 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.33 | gold quality |
| sural nerve | UBERON:0015488 | 94.94 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.88 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.33 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.99 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.74 | gold quality |
| oviduct epithelium | UBERON:0004804 | 93.62 | gold quality |
| spleen | UBERON:0002106 | 93.59 | gold quality |
| right lung | UBERON:0002167 | 93.45 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.43 | gold quality |
| omental fat pad | UBERON:0010414 | 93.20 | gold quality |
| peritoneum | UBERON:0002358 | 93.14 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.06 | gold quality |
| left ovary | UBERON:0002119 | 92.88 | gold quality |
| rectum | UBERON:0001052 | 92.87 | gold quality |
| right ovary | UBERON:0002118 | 92.87 | gold quality |
| thyroid gland | UBERON:0002046 | 92.85 | gold quality |
| body of uterus | UBERON:0009853 | 92.52 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 92.44 | gold quality |
| tibial nerve | UBERON:0001323 | 92.39 | gold quality |
| pituitary gland | UBERON:0000007 | 92.38 | gold quality |
| left uterine tube | UBERON:0001303 | 92.35 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.35 | gold quality |
| endocervix | UBERON:0000458 | 92.31 | gold quality |
| transverse colon | UBERON:0001157 | 92.16 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.15 | gold quality |
| bronchus | UBERON:0002185 | 92.13 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.07 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-46 | yes | 66.23 |
| E-CURD-88 | yes | 53.11 |
| E-GEOD-130148 | yes | 12.69 |
| E-CURD-114 | yes | 11.84 |
| E-ANND-3 | yes | 10.69 |
| E-CURD-112 | yes | 4.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
107 targeting ODF2L, 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-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-10395-5P | 99.86 | 67.35 | 676 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
Literature-anchored findings (GeneRIF, showing 1)
- ODF2L acts as a synthetic lethal partner with WEE1 inhibition in epithelial ovarian cancer models. (PMID:36378528)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Odf2l | ENSMUSG00000028256 |
| rattus_norvegicus | Odf2l | ENSRNOG00000014059 |
Paralogs (1): ODF2 (ENSG00000136811)
Protein
Protein identifiers
Protein BCAP — Q9ULJ1 (reviewed: Q9ULJ1)
Alternative names: Basal body centriole-associated protein, Outer dense fiber protein 2-like
All UniProt accessions (13): A0A8Q3SIE2, A0A8Q3SIL9, A0A8Q3SIM3, A0A8Q3WL67, A0A8Q3WMC5, B5ME44, E9PJZ1, E9PMV9, E9PNP0, Q9ULJ1, H0YCM1, H0YD68, H0YF19
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a suppressor of ciliogenesis, specifically, the initiation of ciliogenesis.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Centriolar satellite. Cilium basal body Cytoplasm. Centriolar satellite Cytoplasm.
Tissue specificity. Mainly expressed in trachea and testis. Not detected in bone marrow, bladder, leukocytes. Only weakly detected in tongue, stomach, brain and ovaries.
Similarity. Belongs to the ODF2 family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULJ1-1 | 1, L-BCAP | yes |
| Q9ULJ1-2 | 2 | |
| Q9ULJ1-3 | 3 | |
| Q9ULJ1-4 | 4 | |
| Q9ULJ1-5 | 5 | |
| Q9ULJ1-6 | 6 |
RefSeq proteins (35): NP_001007023, NP_001171694, NP_001171695, NP_001353708, NP_001353710, NP_001353711, NP_001353712, NP_001353713, NP_001382448, NP_001382449, NP_001382450, NP_001382451, NP_001382452, NP_001382453, NP_001382454, NP_001382455, NP_001382456, NP_001382457, NP_001382458, NP_001382459, NP_001382460, NP_001382461, NP_001382462, NP_001382463, NP_001382464, NP_001382465, NP_001382466, NP_001382467, NP_001382468, NP_001382469, NP_001382470, NP_001382471, NP_001382472, NP_001382473, NP_065780 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026099 | ODF2/BCAP | Family |
UniProt features (16 total): coiled-coil region 5, splice variant 5, sequence conflict 3, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULJ1-F1 | 82.06 | 0.52 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 120 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_ORGANELLE_ASSEMBLY, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, GOBP_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_REGULATION_OF_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION
GO Biological Process (2): cell projection organization (GO:0030030), negative regulation of cilium assembly (GO:1902018)
GO Molecular Function (0):
GO Cellular Component (8): centrosome (GO:0005813), centriole (GO:0005814), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule organizing center | 3 |
| cellular anatomical structure | 3 |
| intracellular membraneless organelle | 2 |
| cellular component organization | 1 |
| cilium assembly | 1 |
| negative regulation of plasma membrane bounded cell projection assembly | 1 |
| regulation of cilium assembly | 1 |
| negative regulation of organelle assembly | 1 |
| centriole | 1 |
| centrosome | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
1043 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ODF2L | PRSS23 | O95084 | 497 |
| ODF2L | SH3GLB1 | Q9Y371 | 489 |
| ODF2L | PKDREJ | Q9NTG1 | 473 |
| ODF2L | CBY2 | Q8NA61 | 469 |
| ODF2L | GRB2 | P29354 | 445 |
| ODF2L | UBXN11 | Q5T124 | 437 |
| ODF2L | PIK3R2 | O00459 | 434 |
| ODF2L | SPEM1 | Q8N4L4 | 412 |
| ODF2L | SPATA19 | Q7Z5L4 | 407 |
| ODF2L | SPATA9 | Q9BWV2 | 405 |
| ODF2L | METTL3 | Q86U44 | 404 |
| ODF2L | EMC9 | Q9Y3B6 | 402 |
| ODF2L | CABYR | O75952 | 397 |
| ODF2L | DKKL1 | Q9UK85 | 396 |
| ODF2L | OAZ3 | Q9UMX2 | 395 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| EMILIN1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP1R13B | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| BORCS6 | HSBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| ODF2 | PLK1 | psi-mi:“MI:0914”(association) | 0.480 |
| ODF2L | CHD4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Ndc80 | RRBP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ERBB2 | ODF2L | psi-mi:“MI:0915”(physical association) | 0.370 |
| ODF2L | HTT | psi-mi:“MI:0915”(physical association) | 0.370 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| CFAP184 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| KRT38 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| INSYN1 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| ODF2L | GAPDHS | psi-mi:“MI:0914”(association) | 0.350 |
| BORCS6 | UQCRQ | psi-mi:“MI:0914”(association) | 0.350 |
| BRK1 | KIF5C | psi-mi:“MI:0914”(association) | 0.350 |
| CEP128 | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PCM1 | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ODF2 | CCDC66 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TRAF3IP1 | ODF2L | psi-mi:“MI:0915”(physical association) | 0.000 |
| NDEL1 | ODF2L | psi-mi:“MI:0915”(physical association) | 0.000 |
| ppdK | ODF2L | psi-mi:“MI:0915”(physical association) | 0.000 |
| ODF2L | spo0J | psi-mi:“MI:0915”(physical association) | 0.000 |
| ODF2L | psi-mi:“MI:0915”(physical association) | 0.000 | |
| cotE | ODF2L | psi-mi:“MI:0915”(physical association) | 0.000 |
| ODF2L | citT3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ODF2L | lysR | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (55): ODF2L (Affinity Capture-RNA), ODF2L (Affinity Capture-MS), ODF2L (Proximity Label-MS), ODF2L (Proximity Label-MS), ODF2L (Proximity Label-MS), ODF2L (Proximity Label-MS), ODF2L (Affinity Capture-MS), ODF2L (Affinity Capture-MS), NPM2 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), ZMAT2 (Affinity Capture-MS), HACL1 (Affinity Capture-MS), ODF2L (Affinity Capture-RNA), ODF2L (Biochemical Activity), ODF2L (Proximity Label-MS)
ESM2 similar proteins: A0A0A6YYL3, A2A2Z9, A6NC57, A8MYB1, A9JSR5, A9UM82, A9ZSY0, D3ZNV2, F4K1B4, G5EBL8, H3BUK9, O14043, P34606, Q01649, Q08B20, Q0VBY1, Q19UN5, Q32L59, Q4UJ75, Q501X2, Q5CZ79, Q5M7B7, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6AY08, Q7FAD5, Q7TPV2, Q7Z7B0, Q80X59, Q811D2, Q86Y13, Q86YR6, Q8IVF6, Q8N6Q1, Q8NF67, Q8WXW3, Q95JR0, Q96AA8
Diamond homologs: Q08B20, Q0VBY1, Q5ZKK5, Q9D478, Q9ULJ1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 50 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cilium assembly | 5 | 11.2× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
121 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 88 |
| Likely benign | 8 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2755 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:86354525:CATA:C | donor_loss | 1.0000 |
| 1:86354526:ATAC:A | donor_loss | 1.0000 |
| 1:86354527:TA:T | donor_loss | 1.0000 |
| 1:86354528:A:C | donor_loss | 1.0000 |
| 1:86354689:TTTT:T | acceptor_gain | 1.0000 |
| 1:86354690:TTT:T | acceptor_gain | 1.0000 |
| 1:86354697:T:C | acceptor_gain | 1.0000 |
| 1:86354697:T:TC | acceptor_gain | 1.0000 |
| 1:86354700:C:CT | acceptor_gain | 1.0000 |
| 1:86354772:A:AC | donor_gain | 1.0000 |
| 1:86354773:C:CC | donor_gain | 1.0000 |
| 1:86354773:CT:C | donor_gain | 1.0000 |
| 1:86354855:TCAAC:T | acceptor_gain | 1.0000 |
| 1:86354856:CAAC:C | acceptor_gain | 1.0000 |
| 1:86354856:CAACC:C | acceptor_gain | 1.0000 |
| 1:86354857:AAC:A | acceptor_gain | 1.0000 |
| 1:86354857:AACC:A | acceptor_loss | 1.0000 |
| 1:86354858:AC:A | acceptor_gain | 1.0000 |
| 1:86354859:CC:C | acceptor_gain | 1.0000 |
| 1:86354859:CCTAA:C | acceptor_loss | 1.0000 |
| 1:86354860:C:CC | acceptor_gain | 1.0000 |
| 1:86354860:C:T | acceptor_gain | 1.0000 |
| 1:86356458:C:CA | donor_gain | 1.0000 |
| 1:86356472:T:TA | donor_gain | 1.0000 |
| 1:86356488:T:TA | donor_gain | 1.0000 |
| 1:86356489:C:A | donor_gain | 1.0000 |
| 1:86356511:T:A | donor_gain | 1.0000 |
| 1:86358782:CGTA:C | donor_loss | 1.0000 |
| 1:86358783:GTA:G | donor_loss | 1.0000 |
| 1:86358784:TA:T | donor_loss | 1.0000 |
AlphaMissense
4328 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:86382300:A:G | L189P | 0.968 |
| 1:86354561:A:G | L579P | 0.961 |
| 1:86354553:C:G | A582P | 0.952 |
| 1:86382303:C:G | R188P | 0.951 |
| 1:86352908:A:G | L615P | 0.949 |
| 1:86352920:A:G | L611P | 0.947 |
| 1:86382956:A:G | L161P | 0.935 |
| 1:86354780:A:G | L533P | 0.924 |
| 1:86354571:C:G | A576P | 0.923 |
| 1:86382998:A:G | L147P | 0.917 |
| 1:86354657:A:G | L547P | 0.912 |
| 1:86382343:C:G | A175P | 0.912 |
| 1:86376310:C:G | A245P | 0.887 |
| 1:86354624:A:G | L558P | 0.886 |
| 1:86382336:C:G | R177P | 0.885 |
| 1:86354556:C:G | A581P | 0.880 |
| 1:86371139:A:G | L312P | 0.877 |
| 1:86352929:A:G | I608T | 0.867 |
| 1:86354564:T:G | Q578P | 0.861 |
| 1:86354645:A:G | L551P | 0.859 |
| 1:86371127:A:G | L316P | 0.848 |
| 1:86358870:C:G | A426P | 0.847 |
| 1:86382258:A:G | L203S | 0.846 |
| 1:86376394:A:G | W217R | 0.841 |
| 1:86376394:A:T | W217R | 0.841 |
| 1:86356454:A:G | L503P | 0.831 |
| 1:86382274:C:G | A198P | 0.830 |
| 1:86382312:A:T | V185E | 0.829 |
| 1:86382291:T:G | Q192P | 0.810 |
| 1:86352938:T:G | Q605P | 0.808 |
dbSNP variants (sampled 300 via entrez): RS1000017063 (1:86349038 TTTAAAA>T), RS1000043815 (1:86372860 C>G,T), RS1000278189 (1:86394658 T>C), RS1000306890 (1:86348979 T>C), RS1000416816 (1:86349488 T>C), RS1000541012 (1:86354225 A>C), RS1000622318 (1:86393118 C>T), RS1000700800 (1:86382610 T>C), RS1000837770 (1:86362976 C>T), RS1000847604 (1:86363301 C>T), RS1000940907 (1:86367992 T>C), RS1000953608 (1:86357852 T>C), RS1001018030 (1:86350561 T>C), RS1001080235 (1:86395851 C>G,T), RS1001169067 (1:86362480 G>A)
Disease associations
OMIM: gene MIM:620130 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005580_172 | Intraocular pressure | 1.000000e-08 |
| GCST005580_288 | Intraocular pressure | 2.000000e-09 |
| GCST006629_76 | Pulse pressure | 3.000000e-10 |
| GCST009847_14 | Hallux valgus | 3.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004695 | intraocular pressure measurement |
| EFO:0005763 | pulse pressure measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation | 3 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation, affects methylation, affects cotreatment | 1 |
| trichostatin A | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| torcetrapib | increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | decreases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Clorgyline | increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Malathion | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.