HEPACAM2
gene geneOn this page
Also known as FLJ38683
Summary
HEPACAM2 (HEPACAM family member 2, HGNC:27364) is a protein-coding gene on chromosome 7q21.2, encoding HEPACAM family member 2 (A8MVW5). Required during prometaphase for centrosome maturation.
This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients.
Source: NCBI Gene 253012 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- Clinical variants (ClinVar): 76 total
- MANE Select transcript:
NM_001039372
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27364 |
| Approved symbol | HEPACAM2 |
| Name | HEPACAM family member 2 |
| Location | 7q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ38683 |
| Ensembl gene | ENSG00000188175 |
| Ensembl biotype | protein_coding |
| OMIM | 614133 |
| Entrez | 253012 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000341723, ENST00000394468, ENST00000440868, ENST00000453812, ENST00000492616, ENST00000890314
RefSeq mRNA: 5 — MANE Select: NM_001039372
NM_001039372, NM_001288804, NM_001288810, NM_001346642, NM_198151
CCDS: CCDS43616, CCDS5629, CCDS75631, CCDS75632
Canonical transcript exons
ENST00000394468 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001366850 | 93208580 | 93208876 |
| ENSE00001369026 | 93197373 | 93197397 |
| ENSE00001381094 | 93215401 | 93215685 |
| ENSE00001518563 | 93219101 | 93219451 |
| ENSE00001518564 | 93226368 | 93226469 |
| ENSE00003481961 | 93197485 | 93197610 |
| ENSE00003558841 | 93192254 | 93192363 |
| ENSE00003562277 | 93195828 | 93195901 |
| ENSE00003672854 | 93197241 | 93197278 |
| ENSE00003893246 | 93188534 | 93189270 |
Expression profiles
Bgee: expression breadth ubiquitous, 129 present calls, max score 98.15.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.9072 / max 1445.9033, expressed in 79 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 84865 | 2.8183 | 68 |
| 84864 | 0.0435 | 15 |
| 84863 | 0.0280 | 11 |
| 84861 | 0.0174 | 4 |
Top tissues by expression
233 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 98.15 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.14 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.16 | gold quality |
| rectum | UBERON:0001052 | 96.67 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.21 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 92.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.74 | gold quality |
| jejunal mucosa | UBERON:0000399 | 88.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.12 | gold quality |
| duodenum | UBERON:0002114 | 86.67 | gold quality |
| kidney epithelium | UBERON:0004819 | 83.23 | silver quality |
| transverse colon | UBERON:0001157 | 82.73 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 82.12 | gold quality |
| small intestine | UBERON:0002108 | 81.21 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 80.16 | gold quality |
| colonic epithelium | UBERON:0000397 | 79.87 | gold quality |
| metanephros cortex | UBERON:0010533 | 77.53 | gold quality |
| kidney | UBERON:0002113 | 76.07 | gold quality |
| intestine | UBERON:0000160 | 75.37 | gold quality |
| pancreas | UBERON:0001264 | 74.96 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 74.10 | gold quality |
| pituitary gland | UBERON:0000007 | 74.07 | gold quality |
| cortex of kidney | UBERON:0001225 | 73.85 | gold quality |
| bronchial epithelial cell | CL:0002328 | 73.42 | gold quality |
| large intestine | UBERON:0000059 | 73.38 | gold quality |
| jejunum | UBERON:0002115 | 72.65 | gold quality |
| colon | UBERON:0001155 | 72.29 | gold quality |
| bronchus | UBERON:0002185 | 72.16 | gold quality |
| adenohypophysis | UBERON:0002196 | 70.92 | gold quality |
| renal medulla | UBERON:0000362 | 70.18 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 2859.69 |
| E-CURD-114 | yes | 310.15 |
| E-HCAD-38 | yes | 272.00 |
| E-CURD-46 | yes | 231.07 |
| E-GEOD-125970 | yes | 36.32 |
| E-CURD-119 | yes | 18.16 |
| E-MTAB-8410 | yes | 14.04 |
| E-HCAD-31 | no | 3.23 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting HEPACAM2, 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-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-26A-1-3P | 99.64 | 66.81 | 788 |
| HSA-MIR-26A-2-3P | 99.64 | 66.82 | 786 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-4728-3P | 99.47 | 68.94 | 981 |
Literature-anchored findings (GeneRIF, showing 1)
- The data suggest that PARsylation of Miki by tankyrase-1 is a key initial event promoting prometaphase. (PMID:22864114)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hepacam2 | ENSDARG00000061365 |
| mus_musculus | Hepacam2 | ENSMUSG00000044156 |
| rattus_norvegicus | Hepacam2 | ENSRNOG00000009711 |
Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), CEACAM8 (ENSG00000124469), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), CEACAM3 (ENSG00000170956), PSG9 (ENSG00000183668), CEACAM19 (ENSG00000186567), PSG5 (ENSG00000204941), CEACAM18 (ENSG00000213822), CEACAM16 (ENSG00000213892), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)
Protein
Protein identifiers
HEPACAM family member 2 — A8MVW5 (reviewed: A8MVW5)
Alternative names: Mitotic kinetics regulator
All UniProt accessions (2): A8MVW5, C9JN07
UniProt curated annotations — full annotation on UniProt →
Function. Required during prometaphase for centrosome maturation. Following poly-ADP-ribosylation (PARsylation) by TNKS, translocates from the Golgi apparatus to mitotic centrosomes and plays a key role in the formation of robust microtubules for prompt movement of chromosomes: anchors AKAP9/CG-NAP, a scaffold protein of the gamma-tubulin ring complex and promotes centrosome maturation.
Subcellular location. Golgi apparatus membrane. Cytoplasm. Cytoskeleton. Spindle. Microtubule organizing center. Centrosome. Midbody.
Tissue specificity. Widely expressed.
Post-translational modifications. Poly-ADP-ribosylated (PARsylated) by tankyrase TNKS during late G2 and prophase, leading to translocation to mitotic centrosomes. N-glycosylated.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A8MVW5-1 | 1 | yes |
| A8MVW5-2 | 2 | |
| A8MVW5-3 | 3 |
RefSeq proteins (5): NP_001034461, NP_001275733, NP_001275739, NP_001333571, NP_937794 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR052280 | HEPACAM_domain | Family |
Pfam: PF13927
UniProt features (18 total): glycosylation site 4, sequence variant 3, disulfide bond 2, splice variant 2, domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, topological domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A8MVW5-F1 | 78.76 | 0.55 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (2): 170–219, 270–315
Glycosylation sites (4): 85, 129, 165, 320
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 120 (showing top):
GGGTGGRR_PAX4_03, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, HNF1_01, SOX5_01, GOCC_SPINDLE, GOCC_MITOTIC_SPINDLE, GOBP_CELL_DIVISION, GOCC_MIDBODY, GOBP_CELL_CYCLE_PROCESS, NIKOLSKY_MUTATED_AND_AMPLIFIED_IN_BREAST_CANCER, PR_Q2, PR_01, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, MIKKELSEN_MEF_ICP_WITH_H3K27ME3
GO Biological Process (2): centrosome cycle (GO:0007098), cell division (GO:0051301)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (10): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), centrosome (GO:0005813), spindle (GO:0005819), midbody (GO:0030496), mitotic spindle (GO:0072686), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| intracellular membraneless organelle | 2 |
| cell cycle process | 1 |
| microtubule organizing center organization | 1 |
| cellular process | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule cytoskeleton | 1 |
| spindle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
996 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HEPACAM2 | VPS50 | Q96JG6 | 652 |
| HEPACAM2 | SAMD9L | Q8IVG5 | 620 |
| HEPACAM2 | SAMD9 | Q5K651 | 550 |
| HEPACAM2 | TNKS | O95271 | 497 |
| HEPACAM2 | TNKS2 | Q9H2K2 | 485 |
| HEPACAM2 | FAM133B | Q5BKY9 | 483 |
| HEPACAM2 | CALCR | P30988 | 476 |
| HEPACAM2 | FGFR1 | P11362 | 458 |
| HEPACAM2 | SERPINB12 | Q96P63 | 454 |
| HEPACAM2 | NAPG | Q99747 | 450 |
| HEPACAM2 | CDK6 | Q00534 | 443 |
| HEPACAM2 | FBXO43 | Q4G163 | 439 |
| HEPACAM2 | RBM48 | Q5RL73 | 438 |
| HEPACAM2 | UBXN2B | Q14CS0 | 430 |
| HEPACAM2 | HEMGN | Q9BXL5 | 420 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HEPACAM2 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (81): NDFIP1 (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), MFAP3 (Affinity Capture-MS), PLEKHH3 (Affinity Capture-MS), ACVR2A (Affinity Capture-MS), HMGCR (Affinity Capture-MS), CYB5R1 (Affinity Capture-MS), ERO1LB (Affinity Capture-MS), RDH11 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), RELT (Affinity Capture-MS), CD320 (Affinity Capture-MS), MAP4K4 (Affinity Capture-MS), UPK3BL (Affinity Capture-MS), BMPR1A (Affinity Capture-MS)
ESM2 similar proteins: A0JM41, A2VD98, A6QQC6, A8MVW5, B0CLX4, B6ZK76, B6ZK77, O60487, O70255, O88324, O88775, O95976, P01832, P03228, P06907, P08920, P08921, P09619, P0C6B7, P0C6N0, P0CW72, P10522, P20938, P21995, P25189, P27573, P37301, P37998, P59823, P59824, P86176, Q01151, Q4VAH7, Q5EAB0, Q5R804, Q640U3, Q6PCB8, Q6WEB5, Q80UL9, Q86XK7
Diamond homologs: A4FUY1, A6QQC6, A8MVW5, D3YXG0, D3ZB51, D3ZQE1, E9PZ19, O08775, P13595, P13596, P16573, P31809, P35968, P52583, Q00889, Q14CZ8, Q3KPI0, Q4VAH7, Q52KR2, Q62845, Q640R3, Q69Z26, Q9D2Z1, Q9HBG7, Q9UPX0, Q5STE3, Q63111, Q640U3, Q6MZW2, Q00888, Q8BFR2, Q8N475, A0A0B4J1L0, A0A140LHF2, E9QA28, O75871, P06731, P11464, P11465, P13688
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1519 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:93192252:A:AC | donor_gain | 1.0000 |
| 7:93192253:C:CC | donor_gain | 1.0000 |
| 7:93192253:CT:C | donor_gain | 1.0000 |
| 7:93195771:CACCT:C | donor_gain | 1.0000 |
| 7:93195797:T:TA | donor_gain | 1.0000 |
| 7:93197480:CCTA:C | donor_loss | 1.0000 |
| 7:93197481:CTA:C | donor_loss | 1.0000 |
| 7:93197482:TA:T | donor_loss | 1.0000 |
| 7:93197483:ACC:A | donor_loss | 1.0000 |
| 7:93197484:C:CA | donor_loss | 1.0000 |
| 7:93197606:CAGTC:C | acceptor_gain | 1.0000 |
| 7:93197608:GTC:G | acceptor_gain | 1.0000 |
| 7:93197609:TC:T | acceptor_gain | 1.0000 |
| 7:93197609:TCCTA:T | acceptor_loss | 1.0000 |
| 7:93197610:CC:C | acceptor_gain | 1.0000 |
| 7:93197611:C:CC | acceptor_gain | 1.0000 |
| 7:93197611:CT:C | acceptor_loss | 1.0000 |
| 7:93197612:T:A | acceptor_loss | 1.0000 |
| 7:93215430:T:A | donor_gain | 1.0000 |
| 7:93189870:C:CT | donor_gain | 0.9900 |
| 7:93192246:GTAC:G | donor_loss | 0.9900 |
| 7:93192247:TACT:T | donor_loss | 0.9900 |
| 7:93192248:ACTT:A | donor_loss | 0.9900 |
| 7:93192250:T:TC | donor_loss | 0.9900 |
| 7:93192251:TACT:T | donor_loss | 0.9900 |
| 7:93192252:A:AT | donor_loss | 0.9900 |
| 7:93192252:ACT:A | donor_gain | 0.9900 |
| 7:93192253:CTC:C | donor_gain | 0.9900 |
| 7:93192361:GATCT:G | acceptor_gain | 0.9900 |
| 7:93192362:ATCTA:A | acceptor_gain | 0.9900 |
AlphaMissense
3035 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:93219329:A:G | W68R | 0.996 |
| 7:93219329:A:T | W68R | 0.996 |
| 7:93208746:C:A | W282C | 0.995 |
| 7:93208746:C:G | W282C | 0.995 |
| 7:93208748:A:G | W282R | 0.995 |
| 7:93208748:A:T | W282R | 0.995 |
| 7:93215572:A:G | W182R | 0.995 |
| 7:93215572:A:T | W182R | 0.995 |
| 7:93215570:C:A | W182C | 0.994 |
| 7:93215570:C:G | W182C | 0.994 |
| 7:93219211:A:G | L107P | 0.994 |
| 7:93208782:A:C | C270W | 0.991 |
| 7:93219106:A:T | V142D | 0.991 |
| 7:93208784:A:G | C270R | 0.990 |
| 7:93215461:A:G | C219R | 0.990 |
| 7:93215608:A:G | C170R | 0.990 |
| 7:93219112:A:T | V140D | 0.990 |
| 7:93219173:A:C | Y120D | 0.989 |
| 7:93219160:A:T | V124D | 0.988 |
| 7:93208647:G:C | C315W | 0.987 |
| 7:93208783:C:T | C270Y | 0.987 |
| 7:93215460:C:G | C219S | 0.987 |
| 7:93215461:A:T | C219S | 0.987 |
| 7:93208635:G:C | N319K | 0.986 |
| 7:93208635:G:T | N319K | 0.986 |
| 7:93208648:C:G | C315S | 0.986 |
| 7:93208649:A:T | C315S | 0.986 |
| 7:93208771:G:A | S274F | 0.986 |
| 7:93208772:A:G | S274P | 0.986 |
| 7:93208783:C:G | C270S | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000022155 (7:93222801 C>A), RS1000176690 (7:93195104 CA>C), RS1000206833 (7:93197128 A>G,T), RS1000279350 (7:93190906 C>A,T), RS1000322300 (7:93197508 C>T), RS1000628266 (7:93220886 C>T), RS1000800119 (7:93213231 G>A,C), RS1000870417 (7:93214926 T>G), RS1000914570 (7:93220518 A>C), RS1001002593 (7:93200211 AT>A,ATT), RS1001015156 (7:93200563 C>A,G,T), RS1001391937 (7:93209489 C>T), RS1001430849 (7:93215812 G>A,T), RS1001616429 (7:93224514 C>A,T), RS1001722576 (7:93232593 T>A)
Disease associations
OMIM: gene MIM:614133 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Tourette syndrome | No Known Disease Relationship | Unknown |
Mondo (3): prostate cancer (MONDO:0008315), breast ductal adenocarcinoma (MONDO:0005590), Tourette syndrome (MONDO:0007661)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| D005879 | Tourette Syndrome | C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | decreases expression, affects expression | 2 |
| bisphenol F | decreases methylation | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| terbufos | decreases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, affects response to substance, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Fonofos | decreases methylation | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment | 1 |
| Parathion | decreases methylation | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
483 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00152750 | PHASE4 | UNKNOWN | Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD |
| NCT00226824 | PHASE4 | TERMINATED | Safety Study of Galantamine in Tic Disorders |
| NCT00241176 | PHASE4 | COMPLETED | Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder |
| NCT00370838 | PHASE4 | COMPLETED | Comparison of Keppra and Clonidine in the Treatment of Tics |
| NCT01018056 | PHASE4 | COMPLETED | Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission |
| NCT01547000 | PHASE4 | COMPLETED | Guanfacine in Children With Tic Disorders |
| NCT03239210 | PHASE4 | COMPLETED | Effects of Ondansetron in Obsessive-compulsive and Tic Disorders |
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
Related Atlas pages
- Associated diseases: Tourette syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Tourette syndrome