TTC28
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Also known as KIAA1043
Summary
TTC28 (tetratricopeptide repeat domain 28, HGNC:29179) is a protein-coding gene on chromosome 22q12.1, encoding Tetratricopeptide repeat protein 28 (Q96AY4). During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody.
Enables kinase binding activity. Involved in regulation of mitotic cell cycle. Located in midbody.
Source: NCBI Gene 23331 — RefSeq curated summary.
At a glance
- GWAS associations: 26
- Clinical variants (ClinVar): 413 total
- MANE Select transcript:
NM_001145418
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29179 |
| Approved symbol | TTC28 |
| Name | tetratricopeptide repeat domain 28 |
| Location | 22q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1043 |
| Ensembl gene | ENSG00000100154 |
| Ensembl biotype | protein_coding |
| OMIM | 615098 |
| Entrez | 23331 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000397906, ENST00000431039, ENST00000442232, ENST00000468807, ENST00000469670, ENST00000480563, ENST00000490475, ENST00000612946
RefSeq mRNA: 4 — MANE Select: NM_001145418
NM_001145418, NM_001393403, NM_001393404, NM_001393405
CCDS: CCDS46678
Canonical transcript exons
ENST00000397906 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000651944 | 27989878 | 27990007 |
| ENSE00000651945 | 27992587 | 27992663 |
| ENSE00000651947 | 27996135 | 27996259 |
| ENSE00000651948 | 27998540 | 27999260 |
| ENSE00000651949 | 28001374 | 28001553 |
| ENSE00000651956 | 28094080 | 28094245 |
| ENSE00000879679 | 28014248 | 28014392 |
| ENSE00000879682 | 28105279 | 28105802 |
| ENSE00001173052 | 28098915 | 28099044 |
| ENSE00001173060 | 28101171 | 28101280 |
| ENSE00001173076 | 28096190 | 28096408 |
| ENSE00001231767 | 28107062 | 28108403 |
| ENSE00001297696 | 28030226 | 28030366 |
| ENSE00001321146 | 27990789 | 27990812 |
| ENSE00001492787 | 28163092 | 28163599 |
| ENSE00001492788 | 28296198 | 28296328 |
| ENSE00001551541 | 28629552 | 28629830 |
| ENSE00001556591 | 28679622 | 28679840 |
| ENSE00001559219 | 27978014 | 27983851 |
| ENSE00003492820 | 28297580 | 28297852 |
| ENSE00003566454 | 27985249 | 27985356 |
| ENSE00003640178 | 28306496 | 28306643 |
| ENSE00003685416 | 27993287 | 27993518 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 93.50.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1231 / max 6.7852, expressed in 59 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 193483 | 0.1231 | 59 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 93.50 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.63 | gold quality |
| cortical plate | UBERON:0005343 | 91.61 | gold quality |
| embryo | UBERON:0000922 | 90.94 | gold quality |
| synovial joint | UBERON:0002217 | 89.97 | gold quality |
| tibia | UBERON:0000979 | 89.68 | gold quality |
| secondary oocyte | CL:0000655 | 89.53 | gold quality |
| urethra | UBERON:0000057 | 89.05 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.80 | gold quality |
| parietal pleura | UBERON:0002400 | 88.72 | gold quality |
| pleura | UBERON:0000977 | 88.60 | gold quality |
| visceral pleura | UBERON:0002401 | 88.36 | gold quality |
| parotid gland | UBERON:0001831 | 88.35 | gold quality |
| saphenous vein | UBERON:0007318 | 88.01 | gold quality |
| lower lobe of lung | UBERON:0008949 | 87.88 | gold quality |
| sural nerve | UBERON:0015488 | 87.46 | gold quality |
| sperm | CL:0000019 | 86.94 | gold quality |
| pericardium | UBERON:0002407 | 86.52 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 86.31 | gold quality |
| caput epididymis | UBERON:0004358 | 86.11 | gold quality |
| left ovary | UBERON:0002119 | 85.74 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.69 | gold quality |
| cauda epididymis | UBERON:0004360 | 85.61 | gold quality |
| ovary | UBERON:0000992 | 85.31 | gold quality |
| male germ cell | CL:0000015 | 85.29 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 85.10 | silver quality |
| right ovary | UBERON:0002118 | 85.07 | gold quality |
| penis | UBERON:0000989 | 84.92 | gold quality |
| blood vessel layer | UBERON:0004797 | 84.65 | gold quality |
| colonic epithelium | UBERON:0000397 | 84.64 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 23.56 |
| E-ANND-3 | yes | 11.50 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
245 targeting TTC28, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
Literature-anchored findings (GeneRIF, showing 1)
- observations indicated that a novel big protein TPRBK is essential for the formation and integrity of the midbody, hence we postulated that TPRBK plays a critical role in the progress of mitosis and cytokinesis during mammalian cell cycle (PMID:23036704)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | TTC28 | ENSDARG00000114920 |
| mus_musculus | Ttc28 | ENSMUSG00000033209 |
| rattus_norvegicus | Ttc28 | ENSRNOG00000032590 |
| drosophila_melanogaster | CG43163 | FBGN0262719 |
Paralogs (6): GPSM2 (ENSG00000121957), TTC29 (ENSG00000137473), GPSM1 (ENSG00000160360), RAPSN (ENSG00000165917), TTC24 (ENSG00000187862), GPSM3 (ENSG00000213654)
Protein
Protein identifiers
Tetratricopeptide repeat protein 28 — Q96AY4 (reviewed: Q96AY4)
Alternative names: TPR repeat-containing big gene cloned at Keio
All UniProt accessions (4): Q96AY4, A0A087WW06, B0QYP4, B0QYP5
UniProt curated annotations — full annotation on UniProt →
Function. During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody.
Subunit / interactions. Interacts with AURKB.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle. Spindle pole. Midbody.
Tissue specificity. Widely expressed in fetal tissues. In adult tissues, expressed in testis and ovary and, at much lower levels, in kidney and pancreas.
RefSeq proteins (4): NP_001138890, NP_001380332, NP_001380333, NP_001380334 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR024983 | CHAT_dom | Domain |
| IPR058900 | TTC28_C | Domain |
Pfam: PF12770, PF13176, PF13424, PF26117
UniProt features (50 total): repeat 28, compositionally biased region 8, modified residue 8, region of interest 5, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96AY4-F1 | 69.05 | 0.21 |
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 (8): 1, 28, 1590, 2104, 2224, 2251, 2393, 2398
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 202 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, ONKEN_UVEAL_MELANOMA_UP, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_DN, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_MITOTIC_CELL_CYCLE, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, NFE2_01, GOCC_SPINDLE
GO Biological Process (2): regulation of mitotic cell cycle (GO:0007346), cell division (GO:0051301)
GO Molecular Function (2): kinase binding (GO:0019900), protein binding (GO:0005515)
GO Cellular Component (6): spindle pole (GO:0000922), centrosome (GO:0005813), midbody (GO:0030496), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular membraneless organelle | 2 |
| mitotic cell cycle | 1 |
| regulation of cell cycle | 1 |
| cellular process | 1 |
| enzyme binding | 1 |
| binding | 1 |
| spindle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| intracellular anatomical structure | 1 |
| microtubule cytoskeleton | 1 |
Protein interactions and networks
STRING
1847 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TTC28 | BRCA1 | P38398 | 620 |
| TTC28 | DLK2 | Q6UY11 | 576 |
| TTC28 | KTN1 | Q86UP2 | 534 |
| TTC28 | IAH1 | Q2TAA2 | 499 |
| TTC28 | MACROD2 | A1Z1Q3 | 439 |
| TTC28 | CHEK2 | O96017 | 418 |
| TTC28 | PITPNB | P48739 | 418 |
| TTC28 | NLE1 | Q9NVX2 | 377 |
| TTC28 | EIF1AX | P47813 | 364 |
| TTC28 | TMEM229B | Q8NBD8 | 361 |
| TTC28 | PLCH2 | O75038 | 355 |
| TTC28 | CFTR | P13569 | 353 |
| TTC28 | PIGW | Q7Z7B1 | 353 |
| TTC28 | F13B | P05160 | 347 |
| TTC28 | OSGEP | Q9NPF4 | 341 |
IntAct
90 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| NCK2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| CD79A | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPYL6 | NME4 | psi-mi:“MI:0914”(association) | 0.530 |
| SDF4 | GTPBP6 | psi-mi:“MI:0914”(association) | 0.530 |
| NCK1 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| PCDHGB1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| MYCBPAP | CHSY3 | psi-mi:“MI:0914”(association) | 0.530 |
| TOMM70 | TTC28 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TTC28 | PDCD11 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF862 | TTC28 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| APP | RTL1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRMT2 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| BSG | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| P4HA2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| ICAM1 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHGB1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-B | psi-mi:“MI:0914”(association) | 0.350 | |
| DOCK5 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (141): TTC28 (Affinity Capture-MS), TTC28 (Affinity Capture-MS), TTC28 (Affinity Capture-MS), TTC28 (Affinity Capture-MS), TTC28 (Affinity Capture-MS), TTC28 (Affinity Capture-MS), TTC28 (Synthetic Growth Defect), TTC28 (Proximity Label-MS), TTC28 (Affinity Capture-MS), TTC28 (Proximity Label-MS), TTC28 (Proximity Label-MS), TTC28 (Proximity Label-MS), TTC28 (Proximity Label-MS), TTC28 (Proximity Label-MS), TTC28 (Affinity Capture-MS)
ESM2 similar proteins: A0MQH0, A2AWA9, A7Y521, B1H1Z8, B4ZIX8, B5KFI0, O88544, O94826, P70188, Q0P5I8, Q13042, Q13098, Q148V7, Q25BN1, Q3SZA0, Q3T0V3, Q3ZBE1, Q4R5E6, Q5F415, Q5R648, Q5R8I6, Q5RAN1, Q5ZIL9, Q6NRT5, Q6P4Z9, Q6TUI4, Q75Q39, Q7L5D6, Q80XJ3, Q8BPU7, Q8C1Z7, Q8K0F1, Q8R349, Q8VBV7, Q92556, Q92845, Q96AY4, Q96RK4, Q9BT78, Q9CZW5
Diamond homologs: A0A3L6DPG1, A5WWA0, A6HD62, D3ZSP7, F1QB30, G3X9R7, O13797, O16259, O35814, O54981, O88196, P31948, P53041, P53042, P53804, Q06003, Q0JL44, Q14B02, Q29RU0, Q2TA44, Q388N2, Q3U2C5, Q3ZBZ8, Q496Y0, Q4R8N7, Q54DA8, Q566M8, Q5DTZ6, Q5QLR5, Q5R8D8, Q5RF74, Q5SPX3, Q5XEP2, Q5Z880, Q5ZHY5, Q60676, Q60864, Q6AY01, Q6DGE9, Q6NPT7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 117 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 6 | 58.6× | 9e-08 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 6 | 51.7× | 1e-07 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 6 | 51.7× | 1e-07 |
| Activation of BH3-only proteins | 6 | 38.2× | 7e-07 |
| RHO GTPases activate PKNs | 6 | 24.4× | 8e-06 |
| Intrinsic Pathway for Apoptosis | 6 | 22.5× | 1e-05 |
| G2/M Checkpoints | 8 | 13.8× | 7e-06 |
| SARS-CoV-1-host interactions | 6 | 13.5× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 9 | 8.9× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
413 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 342 |
| Likely benign | 38 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5744 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:27985243:TCTTA:T | donor_loss | 1.0000 |
| 22:27985244:CTTA:C | donor_loss | 1.0000 |
| 22:27985245:TTA:T | donor_loss | 1.0000 |
| 22:27985246:TA:T | donor_loss | 1.0000 |
| 22:27985247:A:AC | donor_gain | 1.0000 |
| 22:27985247:A:T | donor_loss | 1.0000 |
| 22:27985248:C:CC | donor_gain | 1.0000 |
| 22:27985248:C:CT | donor_loss | 1.0000 |
| 22:27985248:CCAAA:C | donor_gain | 1.0000 |
| 22:27985356:CCTA:C | acceptor_loss | 1.0000 |
| 22:27985357:C:CC | acceptor_gain | 1.0000 |
| 22:27985357:C:CG | acceptor_loss | 1.0000 |
| 22:27989876:A:AC | donor_gain | 1.0000 |
| 22:27989877:C:CC | donor_gain | 1.0000 |
| 22:27989877:C:G | donor_loss | 1.0000 |
| 22:27990006:AG:A | acceptor_gain | 1.0000 |
| 22:27990008:C:CC | acceptor_gain | 1.0000 |
| 22:27990827:T:TC | acceptor_gain | 1.0000 |
| 22:27992580:GACTT:G | donor_loss | 1.0000 |
| 22:27992581:ACTTA:A | donor_loss | 1.0000 |
| 22:27992582:CTT:C | donor_loss | 1.0000 |
| 22:27992583:TTAC:T | donor_loss | 1.0000 |
| 22:27992584:TACCC:T | donor_loss | 1.0000 |
| 22:27992585:A:AC | donor_gain | 1.0000 |
| 22:27992585:AC:A | donor_gain | 1.0000 |
| 22:27992586:C:CA | donor_loss | 1.0000 |
| 22:27992586:C:CC | donor_gain | 1.0000 |
| 22:27992586:CC:C | donor_gain | 1.0000 |
| 22:27992586:CCCGG:C | donor_gain | 1.0000 |
| 22:27992659:CAGAC:C | acceptor_gain | 1.0000 |
AlphaMissense
16171 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:27985317:A:G | L1916P | 1.000 |
| 22:27989915:C:A | W1890C | 1.000 |
| 22:27989915:C:G | W1890C | 1.000 |
| 22:27989917:A:G | W1890R | 1.000 |
| 22:27989917:A:T | W1890R | 1.000 |
| 22:27993355:A:T | V1803D | 1.000 |
| 22:27993422:A:G | W1781R | 1.000 |
| 22:27993422:A:T | W1781R | 1.000 |
| 22:27993511:T:A | K1751I | 1.000 |
| 22:27996136:A:G | L1748P | 1.000 |
| 22:27996140:G:C | H1747D | 1.000 |
| 22:28096211:A:G | W1249R | 1.000 |
| 22:28096211:A:T | W1249R | 1.000 |
| 22:28105335:C:T | G1084E | 1.000 |
| 22:28105336:C:G | G1084R | 1.000 |
| 22:28105336:C:T | G1084R | 1.000 |
| 22:28107324:C:G | G841R | 1.000 |
| 22:28107564:C:G | G761R | 1.000 |
| 22:28107683:C:T | G721D | 1.000 |
| 22:28107800:A:G | L682P | 1.000 |
| 22:28107803:C:T | G681D | 1.000 |
| 22:28107804:C:G | G681R | 1.000 |
| 22:28107863:A:G | L661P | 1.000 |
| 22:28107923:C:T | G641D | 1.000 |
| 22:28107924:C:G | G641R | 1.000 |
| 22:28107926:A:G | L640P | 1.000 |
| 22:28108043:C:T | G601D | 1.000 |
| 22:28108044:C:G | G601R | 1.000 |
| 22:28108046:A:G | L600P | 1.000 |
| 22:28108048:G:C | N599K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000457 (22:28246113 C>T), RS1000004215 (22:28282752 C>G), RS1000007429 (22:28166004 A>T), RS1000007601 (22:28576458 G>A), RS1000008280 (22:28530348 C>G), RS1000010962 (22:28335575 T>C), RS1000013825 (22:28034371 C>T), RS1000015179 (22:28432577 A>T), RS1000022764 (22:28156324 C>A,T), RS1000022806 (22:28419264 T>C), RS1000025749 (22:28063548 G>A), RS1000026393 (22:28381442 C>T), RS1000029988 (22:28081789 G>C), RS1000030823 (22:28224395 G>A), RS1000031804 (22:28671656 T>G)
Disease associations
OMIM: gene MIM:615098 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002553_2 | Pancreatic cancer | 1.000000e-08 |
| GCST003070_6 | Cerebrospinal T-tau levels | 1.000000e-06 |
| GCST003071_1 | Cerebrospinal P-tau181p levels | 3.000000e-07 |
| GCST003078_4 | Cerebrospinal fluid p-Tau181p:AB1-42 ratio | 6.000000e-06 |
| GCST004610_102 | White blood cell count | 3.000000e-11 |
| GCST004627_114 | Lymphocyte count | 3.000000e-09 |
| GCST005652_6 | Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) | 9.000000e-06 |
| GCST006085_104 | Prostate cancer | 2.000000e-08 |
| GCST006628_46 | Systolic blood pressure | 6.000000e-10 |
| GCST007576_115 | Chronotype | 1.000000e-08 |
| GCST008158_116 | Body mass index | 3.000000e-06 |
| GCST009597_21 | Multiple sclerosis | 1.000000e-07 |
| GCST009724_103 | Vertical cup-disc ratio (multi-trait analysis) | 1.000000e-17 |
| GCST010083_317 | Hemoglobin levels | 3.000000e-08 |
| GCST010244_195 | Triglyceride levels | 3.000000e-08 |
| GCST012490_160 | Femur bone mineral density x serum urate levels interaction | 3.000000e-11 |
| GCST90002388_263 | Lymphocyte count | 1.000000e-12 |
| GCST90002388_264 | Lymphocyte count | 6.000000e-25 |
| GCST90002389_436 | Lymphocyte percentage of white cells | 1.000000e-09 |
| GCST90002400_501 | Plateletcrit | 8.000000e-17 |
| GCST90002400_502 | Plateletcrit | 3.000000e-13 |
| GCST90002404_589 | Red cell distribution width | 7.000000e-09 |
| GCST90011899_61 | Aspartate aminotransferase levels | 2.000000e-08 |
| GCST90013421_5 | Left-handedness | 4.000000e-09 |
| GCST90044902_7 | Polycystic ovary syndrome (adjusted for age) | 2.000000e-16 |
| GCST90044903_5 | Polycystic ovary syndrome (adjusted for age and BMI) | 5.000000e-14 |
EFO canonical traits (18, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004760 | t-tau measurement |
| EFO:0004763 | p-tau measurement |
| EFO:0007709 | p-tau:beta-amyloid 1-42 ratio measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0003959 | cleft lip |
| EFO:0009116 | vitamin supplement exposure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0008328 | chronotype measurement |
| EFO:0004340 | body mass index |
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004531 | urate measurement |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007985 | platelet crit |
| EFO:0009188 | Red cell distribution width |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0009902 | handedness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 7 |
| Valproic Acid | affects cotreatment, decreases expression, increases methylation | 4 |
| Aflatoxin B1 | decreases expression, increases methylation | 3 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | decreases expression, affects cotreatment | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| coumarin | affects phosphorylation | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| clothianidin | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases 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): polycystic ovary syndrome