DCDC1
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Also known as FLJ46154
Summary
DCDC1 (doublecortin domain containing 1, HGNC:20625) is a protein-coding gene on chromosome 11p14.1, encoding Doublecortin domain-containing protein 1 (M0R2J8). Microtubule-binding protein which plays an important role in mediating dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis.
This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic, intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse homolog.
Source: NCBI Gene 341019 — RefSeq curated summary.
At a glance
- GWAS associations: 49
- Clinical variants (ClinVar): 158 total — 9 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_001387274
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20625 |
| Approved symbol | DCDC1 |
| Name | doublecortin domain containing 1 |
| Location | 11p14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ46154 |
| Ensembl gene | ENSG00000170959 |
| Ensembl biotype | protein_coding |
| OMIM | 608062 |
| Entrez | 341019 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 4 protein_coding, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000303697, ENST00000342355, ENST00000406071, ENST00000429306, ENST00000437348, ENST00000444572, ENST00000452803, ENST00000483396, ENST00000534021, ENST00000534722, ENST00000597505, ENST00000684477
RefSeq mRNA: 5 — MANE Select: NM_001387274
NM_001367979, NM_001387274, NM_001387275, NM_020869, NM_181807
CCDS: CCDS73270, CCDS7872, CCDS91453, CCDS91454
Canonical transcript exons
ENST00000684477 — 39 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001167097 | 30903482 | 30903683 |
| ENSE00001167106 | 30904961 | 30905164 |
| ENSE00001600541 | 31290647 | 31290852 |
| ENSE00001613815 | 31328117 | 31328286 |
| ENSE00001731410 | 31305615 | 31305777 |
| ENSE00001744372 | 30863603 | 30865332 |
| ENSE00001763121 | 31306232 | 31306388 |
| ENSE00001787325 | 31335447 | 31335564 |
| ENSE00001803070 | 31307639 | 31307908 |
| ENSE00003473183 | 31094050 | 31094184 |
| ENSE00003475096 | 30892818 | 30892997 |
| ENSE00003476096 | 30894248 | 30894384 |
| ENSE00003492134 | 30906540 | 30906725 |
| ENSE00003503553 | 30878544 | 30878711 |
| ENSE00003511130 | 31241450 | 31241616 |
| ENSE00003517532 | 31077865 | 31077925 |
| ENSE00003523482 | 30952445 | 30952568 |
| ENSE00003523814 | 31091393 | 31091511 |
| ENSE00003524020 | 31106797 | 31106960 |
| ENSE00003536653 | 30920776 | 30920935 |
| ENSE00003538444 | 30915511 | 30915711 |
| ENSE00003546970 | 30881158 | 30881308 |
| ENSE00003548711 | 30931771 | 30931952 |
| ENSE00003564393 | 31065019 | 31065153 |
| ENSE00003583307 | 31137692 | 31137784 |
| ENSE00003603613 | 31064469 | 31064626 |
| ENSE00003612667 | 30911327 | 30911420 |
| ENSE00003614373 | 31110260 | 31110361 |
| ENSE00003625137 | 31127469 | 31127639 |
| ENSE00003638124 | 30922503 | 30922638 |
| ENSE00003643087 | 30916870 | 30917028 |
| ENSE00003647744 | 31103644 | 31103769 |
| ENSE00003651401 | 31265507 | 31265600 |
| ENSE00003674446 | 30900346 | 30900498 |
| ENSE00003675918 | 31102177 | 31102282 |
| ENSE00003677710 | 30899541 | 30899642 |
| ENSE00003690392 | 30925309 | 30925408 |
| ENSE00003718407 | 30908946 | 30909116 |
| ENSE00003916493 | 31369697 | 31369739 |
Expression profiles
Bgee: expression breadth ubiquitous, 148 present calls, max score 84.70.
FANTOM5 (CAGE): breadth broad, TPM avg 1.1098 / max 98.1801, expressed in 310 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119127 | 1.0456 | 296 |
| 119122 | 0.0384 | 10 |
| 119123 | 0.0258 | 10 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oviduct epithelium | UBERON:0004804 | 84.70 | gold quality |
| right uterine tube | UBERON:0001302 | 83.81 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.91 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.03 | gold quality |
| bronchial epithelial cell | CL:0002328 | 79.30 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 78.28 | gold quality |
| bronchus | UBERON:0002185 | 77.56 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 77.18 | gold quality |
| fallopian tube | UBERON:0003889 | 70.48 | gold quality |
| right lobe of liver | UBERON:0001114 | 70.22 | gold quality |
| ventricular zone | UBERON:0003053 | 69.88 | gold quality |
| gall bladder | UBERON:0002110 | 69.80 | gold quality |
| left testis | UBERON:0004533 | 68.00 | gold quality |
| testis | UBERON:0000473 | 67.64 | gold quality |
| right testis | UBERON:0004534 | 67.39 | gold quality |
| pituitary gland | UBERON:0000007 | 66.83 | gold quality |
| adenohypophysis | UBERON:0002196 | 66.22 | gold quality |
| islet of Langerhans | UBERON:0000006 | 65.66 | gold quality |
| calcaneal tendon | UBERON:0003701 | 65.49 | gold quality |
| liver | UBERON:0002107 | 64.77 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 63.81 | gold quality |
| cerebellar vermis | UBERON:0004720 | 61.24 | gold quality |
| thyroid gland | UBERON:0002046 | 60.76 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 60.65 | gold quality |
| corpus callosum | UBERON:0002336 | 59.46 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 59.42 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 58.46 | gold quality |
| right lung | UBERON:0002167 | 58.24 | gold quality |
| metanephros cortex | UBERON:0010533 | 58.11 | gold quality |
| ganglionic eminence | UBERON:0004023 | 58.05 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.92 |
| E-MTAB-9388 | yes | 6.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting DCDC1, 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-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-548V | 99.29 | 69.47 | 1157 |
| HSA-MIR-376A-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-376B-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-10524-5P | 99.05 | 66.08 | 963 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-2115-5P | 98.66 | 68.07 | 1191 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-4691-5P | 98.41 | 66.77 | 1343 |
| HSA-MIR-6792-3P | 98.41 | 66.86 | 1359 |
| HSA-MIR-4799-3P | 97.78 | 65.97 | 893 |
| HSA-MIR-4314 | 97.50 | 67.30 | 1369 |
| HSA-MIR-4720-5P | 97.46 | 65.67 | 893 |
| HSA-MIR-5588-5P | 97.46 | 65.70 | 913 |
Literature-anchored findings (GeneRIF, showing 2)
- DCDC1 was mapped to 11p13; mainly expressed in adult testis; and its expression in fetal brain was much higher than in adult brain (PMID:12820024)
- DCDC5 colocalizes with Rab8 and links it to dynein during cytokinesis. DCDC5 knockdown increased apoptosis and the number of multinucleated cells. (PMID:22159412)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
Doublecortin domain-containing protein 1 — M0R2J8 (reviewed: M0R2J8)
Alternative names: Doublecortin domain-containing 5 protein
All UniProt accessions (5): A0A804HJA9, B6ZDN3, M0R2J8, H0Y2Q8, H7C298
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-binding protein which plays an important role in mediating dynein-dependent transport of RAB8A-positive vesicles to the midbody during cytokinesis.
Subunit / interactions. Interacts with dynein intermediate chain, tubulin, RAB8A, RAB3IP, NUDC, PAFAH1B1 and DCTN1.
Subcellular location. Midbody. Midbody ring. Cytoplasm. Cytoskeleton. Spindle.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| M0R2J8-1 | 1 | yes |
| M0R2J8-2 | 2 | |
| M0R2J8-3 | 3 |
RefSeq proteins (5): NP_001354908, NP_001374203, NP_001374204, NP_065920, NP_861523 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003533 | Doublecortin_dom | Domain |
| IPR035992 | Ricin_B-like_lectins | Homologous_superfamily |
| IPR036572 | Doublecortin_dom_sf | Homologous_superfamily |
| IPR043188 | DCDC1 | Family |
| IPR056415 | DCX2_DCDC1 | Domain |
| IPR057424 | Ubiquitin_DCDC1 | Domain |
Pfam: PF24478, PF25510
UniProt features (15 total): domain 4, splice variant 4, sequence variant 2, region of interest 2, chain 1, sequence conflict 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-M0R2J8-F1 | 68.53 | 0.12 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 116 (showing top):
GOBP_MITOTIC_CYTOKINESIS, AATGGAG_MIR136, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, NKX61_01, CDP_01, CAGCAGG_MIR370, GOBP_CYTOKINESIS, GOBP_REGULATION_OF_CELL_CYCLE, IRF1_Q6, GOBP_REGULATION_OF_CYTOKINESIS, GOBP_REGULATION_OF_CELL_DIVISION, ARGGGTTAA_UNKNOWN, TGACATY_UNKNOWN, GOBP_MITOTIC_CELL_CYCLE, HAND1E47_01
GO Biological Process (3): intracellular signal transduction (GO:0035556), cell division (GO:0051301), regulation of mitotic cytokinesis (GO:1902412)
GO Molecular Function (3): microtubule binding (GO:0008017), carbohydrate binding (GO:0030246), protein binding (GO:0005515)
GO Cellular Component (7): microtubule (GO:0005874), midbody (GO:0030496), mitotic spindle (GO:0072686), Flemming body (GO:0090543), 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 anatomical structure | 2 |
| binding | 2 |
| microtubule cytoskeleton | 2 |
| intracellular membraneless organelle | 2 |
| signal transduction | 1 |
| cellular process | 1 |
| mitotic cytokinesis | 1 |
| regulation of cytokinesis | 1 |
| tubulin binding | 1 |
| polymeric cytoskeletal fiber | 1 |
| spindle | 1 |
| midbody | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DCDC1 | KRT8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DCDC1 | PCDH7 | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: A2VDJ0, A5D791, A9CB18, D3YYM4, D5K8A9, E7FKV8, F1LW30, M0R2J8, O60383, O70173, O75747, Q07105, Q08DV9, Q2F7Z7, Q3MJ13, Q3SXY7, Q3T0Q2, Q3U3D7, Q3U3S3, Q4R8C8, Q5F479, Q5R800, Q5RFQ4, Q5SUS0, Q5XX13, Q6IRU7, Q6P4T1, Q6UXZ4, Q7TP65, Q8BLA1, Q8K1S2, Q8NDB2, Q8NEM2, Q8QHJ9, Q8R526, Q8TDX9, Q920I9, Q96KN7, Q9BXS4, Q9D0L6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
158 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 9 |
| Likely pathogenic | 1 |
| Uncertain significance | 78 |
| Likely benign | 26 |
| Benign | 29 |
Top pathogenic / likely-pathogenic (10)
| Variant ID | HGVS | Classification |
|---|---|---|
| 146313 | GRCh38/hg38 11p13(chr11:31299323-31790071)x1 | Pathogenic |
| 151268 | GRCh38/hg38 11p13(chr11:31189295-31701133)x1 | Pathogenic |
| 253466 | GRCh37/hg19 11p13(chr11:31284306-32458309)x1 | Pathogenic |
| 267197 | NC_000011.10:g.31130456_31671718del | Pathogenic |
| 267198 | NC_000011.10:g.31256273_31773692del | Pathogenic |
| 3063225 | GRCh37/hg19 11p13(chr11:31158395-31677662)x1 | Pathogenic |
| 376752 | GRCh37/hg19 11p13(chr11:31147306-31714853)x1 | Pathogenic |
| 376754 | GRCh37/hg19 11p13(chr11:31186493-31698208)x1 | Pathogenic |
| 376758 | GRCh37/hg19 11p13(chr11:31083877-31704548)x1 | Pathogenic |
| 3256951 | NM_001387274.1(DCDC1):c.5097C>A (p.Cys1699Ter) | Likely pathogenic |
SpliceAI
2324 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:31263521:A:C | acceptor_gain | 1.0000 |
| 11:31305609:TTTTA:T | donor_loss | 1.0000 |
| 11:31305610:TTTA:T | donor_loss | 1.0000 |
| 11:31305611:TTA:T | donor_loss | 1.0000 |
| 11:31305612:TAC:T | donor_loss | 1.0000 |
| 11:31305613:ACC:A | donor_loss | 1.0000 |
| 11:31305614:C:CA | donor_loss | 1.0000 |
| 11:31305650:C:CA | donor_gain | 1.0000 |
| 11:31305773:AGCAG:A | acceptor_gain | 1.0000 |
| 11:31305774:GCAG:G | acceptor_gain | 1.0000 |
| 11:31305775:CAG:C | acceptor_gain | 1.0000 |
| 11:31305775:CAGC:C | acceptor_gain | 1.0000 |
| 11:31305776:AG:A | acceptor_gain | 1.0000 |
| 11:31305776:AGC:A | acceptor_loss | 1.0000 |
| 11:31305777:GCTAG:G | acceptor_loss | 1.0000 |
| 11:31305778:C:CC | acceptor_gain | 1.0000 |
| 11:31305778:CTAG:C | acceptor_loss | 1.0000 |
| 11:31306216:TTGGA:T | donor_gain | 1.0000 |
| 11:31307905:CTCT:C | acceptor_gain | 1.0000 |
| 11:31345668:T:TA | donor_gain | 1.0000 |
| 11:31369695:A:AC | donor_gain | 1.0000 |
| 11:31369696:C:CC | donor_gain | 1.0000 |
| 11:31265599:ACCTG:A | acceptor_gain | 0.9900 |
| 11:31265600:CC:C | acceptor_loss | 0.9900 |
| 11:31265600:CCTG:C | acceptor_gain | 0.9900 |
| 11:31265600:CCTGT:C | acceptor_gain | 0.9900 |
| 11:31265601:CT:C | acceptor_loss | 0.9900 |
| 11:31265603:G:C | acceptor_gain | 0.9900 |
| 11:31265603:G:GC | acceptor_gain | 0.9900 |
| 11:31265607:A:T | acceptor_gain | 0.9900 |
AlphaMissense
11736 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:30915533:A:G | W1211R | 0.992 |
| 11:30915533:A:T | W1211R | 0.992 |
| 11:30909077:A:G | W1263R | 0.991 |
| 11:30909077:A:T | W1263R | 0.991 |
| 11:30952477:A:G | W895R | 0.990 |
| 11:30952477:A:T | W895R | 0.990 |
| 11:30952567:A:G | W865R | 0.990 |
| 11:30952567:A:T | W865R | 0.990 |
| 11:30952498:A:G | W888R | 0.987 |
| 11:30952498:A:T | W888R | 0.987 |
| 11:30952528:A:G | W878R | 0.984 |
| 11:30952528:A:T | W878R | 0.984 |
| 11:31305659:A:T | V237D | 0.984 |
| 11:31305721:G:C | F216L | 0.983 |
| 11:31305721:G:T | F216L | 0.983 |
| 11:31305723:A:G | F216L | 0.983 |
| 11:30931943:A:G | W909R | 0.982 |
| 11:30931943:A:T | W909R | 0.982 |
| 11:30931947:A:C | F907L | 0.981 |
| 11:30931947:A:T | F907L | 0.981 |
| 11:30931949:A:G | F907L | 0.981 |
| 11:30952475:C:A | W895C | 0.981 |
| 11:30952475:C:G | W895C | 0.981 |
| 11:31306290:G:T | A178D | 0.979 |
| 11:30881307:A:G | L1692P | 0.976 |
| 11:30915663:G:C | F1167L | 0.976 |
| 11:30915663:G:T | F1167L | 0.976 |
| 11:30915665:A:G | F1167L | 0.976 |
| 11:30952565:C:A | W865C | 0.976 |
| 11:30952565:C:G | W865C | 0.976 |
dbSNP variants (sampled 300 via entrez): RS1000001445 (11:31014626 C>T), RS1000014710 (11:30864110 G>A,T), RS1000021246 (11:31288984 C>T), RS1000025336 (11:31260645 C>A,G,T), RS1000029333 (11:31155675 G>A), RS1000031333 (11:31041143 T>A,C,G), RS1000031855 (11:31335578 T>A), RS1000040916 (11:31213583 G>A), RS1000042477 (11:31307608 G>A,C), RS1000044272 (11:31199308 T>A), RS1000054340 (11:31010474 G>T), RS1000064059 (11:31055643 T>A), RS1000066636 (11:30937288 G>A), RS1000069465 (11:31082104 A>C), RS1000071841 (11:31028224 T>C)
Disease associations
OMIM: gene MIM:608062 | disease phenotypes: MIM:106210
GenCC curated gene-disease
Mondo (3): aniridia (MONDO:0019172), aniridia 1 (MONDO:0024507), head and neck cancer (MONDO:0005627)
Orphanet (2): Isolated aniridia (Orphanet:250923), OBSOLETE: Aniridia (Orphanet:77)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
49 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000494_13 | Bone mineral density (spine) | 2.000000e-09 |
| GCST000756_1 | Magnesium levels | 5.000000e-16 |
| GCST001482_7 | Lumbar spine bone mineral density | 2.000000e-11 |
| GCST001606_1 | Renal function-related traits (sCR) | 3.000000e-09 |
| GCST001607_2 | Renal function-related traits (eGRFcrea) | 1.000000e-09 |
| GCST001610_8 | Renal function-related traits (BUN) | 5.000000e-16 |
| GCST003790_23 | Glomerular filtration rate | 4.000000e-09 |
| GCST004604_66 | Hematocrit | 2.000000e-11 |
| GCST004615_71 | Hemoglobin concentration | 2.000000e-10 |
| GCST005983_38 | Serum uric acid levels | 1.000000e-08 |
| GCST005984_34 | Glomerular filtration rate | 8.000000e-22 |
| GCST005985_52 | Creatinine levels | 3.000000e-21 |
| GCST005986_38 | Blood urea nitrogen levels | 2.000000e-26 |
| GCST006041_20 | Major depressive disorder | 8.000000e-08 |
| GCST006627_48 | Diastolic blood pressure | 3.000000e-11 |
| GCST006979_787 | Heel bone mineral density | 6.000000e-14 |
| GCST007324_16 | Adventurousness | 1.000000e-10 |
| GCST007325_15 | General risk tolerance (MTAG) | 9.000000e-09 |
| GCST007325_276 | General risk tolerance (MTAG) | 2.000000e-13 |
| GCST007725_18 | Serum uric acid levels | 8.000000e-10 |
| GCST007733_31 | Serum uric acid levels | 8.000000e-07 |
| GCST007876_27 | Estimated glomerular filtration rate | 2.000000e-43 |
| GCST007877_13 | Creatinine levels | 2.000000e-09 |
| GCST007878_4 | Urea levels | 5.000000e-08 |
| GCST008058_193 | Estimated glomerular filtration rate | 3.000000e-115 |
| GCST008059_106 | Estimated glomerular filtration rate | 1.000000e-91 |
| GCST008060_33 | Estimated glomerular filtration rate | 8.000000e-18 |
| GCST008062_5 | Blood urea nitrogen levels | 8.000000e-50 |
| GCST008064_44 | Chronic kidney disease | 2.000000e-21 |
| GCST008156_136 | Hip circumference adjusted for BMI | 8.000000e-06 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004845 | magnesium measurement |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004761 | uric acid measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0009270 | heel bone mineral density |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0009282 | sodium measurement |
| EFO:0004531 | urate measurement |
| EFO:0007787 | plasma betaine measurement |
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0004771 | visual cortical surface area measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0006935 | thalamus volume |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D015783 | Aniridia | C11.250.060; C11.270.060; C11.941.375.060; C16.131.384.079; C16.320.290.078 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, affects cotreatment, increases expression | 4 |
| Aflatoxin B1 | decreases expression, decreases methylation | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression | 1 |
| pentanal | decreases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Aldehydes | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | decreases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00138827 | PHASE4 | COMPLETED | Mouth Care Regimes During Radiotherapy |
| NCT00158041 | PHASE4 | COMPLETED | Subcutaneous Amifostine Safety Study |
| NCT00198263 | PHASE4 | COMPLETED | Study Using the Medpulser Electroporation System With Bleomycin to Treat Head and Neck Cancer |
| NCT00333099 | PHASE4 | COMPLETED | INEC Study: Immuno-modulating Enteral Nutrition in Cancer |
| NCT00365508 | PHASE4 | COMPLETED | Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking |
| NCT00666978 | PHASE4 | COMPLETED | Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking |
| NCT00772681 | PHASE4 | COMPLETED | Efficacy of Chemoradiotherapy After Neoadjuvant Cisplatin and Docetaxel in the Nasopharynx Carcinoma |
| NCT00813631 | PHASE4 | UNKNOWN | The Effect on an Ionic Silver Dressing in Head and Neck Patients With Malignant Fungating Wound |
| NCT01317589 | PHASE4 | COMPLETED | Treatment of Pain in Head-and-Neck Cancer Patients: is Methadone More Effective? |
| NCT01418118 | PHASE4 | COMPLETED | Assessment of the Effects of Pressors on Graft Blood Flow After Free Tissue Transfer Surgery |
| NCT01553032 | PHASE4 | COMPLETED | Skin Changes in Head and Neck Cancer During Immuno-(Chemo-) And Radiotherapy With Erbitux® (HICARE) |
| NCT02015650 | PHASE4 | TERMINATED | Cetuximab Compared to Mitomycin-C and 5-Fluorouracil for Locally Advanced Squamous Cell Carcinomas of the Head and Neck |
| NCT02049112 | PHASE4 | COMPLETED | A New Oral salIvary equivAlent Compared to Two moisturizinG Mouth sprAys in Patients With xeRostomiA: NIAGARA Study |
| NCT02241083 | PHASE4 | COMPLETED | The Effect of Norepinephrine and Dopamine on Radial Forearm Free Flap Tissue Oxygen Pressure and Microdialysate Metabolite Measurements |
| NCT02241876 | PHASE4 | UNKNOWN | THE USE OF N-ACETYLCYSTEINE ATTENUATING CISPLATIN-INDUCED TOXICITIES BY OXIDATIVE STRESS |
| NCT02597582 | PHASE4 | COMPLETED | LigaSure Small Jaw® Versus Conventional Neck Dissection in Head and Neck Cancer Patients |
| NCT02622880 | PHASE4 | COMPLETED | Comparison of Two Immunomodulatory Formulas on the Number of Postoperative Infections in Head & Neck Cancer Patients |
| NCT02880072 | PHASE4 | COMPLETED | Absorption of Orally Ingested Phosphate in Refeeding Syndrome |
| NCT02926573 | PHASE4 | COMPLETED | Perioperative Gabapentin Use In Head And Neck Mucosal Surgery Patients |
| NCT03607227 | PHASE4 | COMPLETED | Continous Popliteal Block for Microvascular Free Flap Reconstruction in Ear, Nose and Throat Surgery |
| NCT03714867 | PHASE4 | WITHDRAWN | Pre-Operative Pregabalin for Post-Operative Pain in Head and Neck Cancer Surgery |
| NCT04155008 | PHASE4 | TERMINATED | Nutrition and Pharmacological Algorithm for Oncology Patients Study |
| NCT04246697 | PHASE4 | COMPLETED | Multimodal Pain Study in Free Flap Patients |
| NCT04292990 | PHASE4 | UNKNOWN | Comparison of Transdermal Fentanyl and Morphine for Oral Mucositis Pain in Nasopharyngeal Cancer Patients |
| NCT04507035 | PHASE4 | UNKNOWN | Treating Locally Advanced Head and Neck Malignant Tumor With Anlotinib and Chemoradiotherapy |
| NCT04977271 | PHASE4 | WITHDRAWN | Mood Disorders in Head and Neck Cancer Patients |
| NCT05046028 | PHASE4 | COMPLETED | Individualization of Nutritive Sensory Support Of Radiation Therapy |
| NCT05055726 | PHASE4 | COMPLETED | Benzydamine Oromucosal Solution in Oral Mucositis (BOOM) |
| NCT06521697 | PHASE4 | NOT_YET_RECRUITING | Effects of Minimal-Flow Sevoflurane and Multimodal Analgesia in Head and Neck Cancer Surgery |
| NCT06734598 | PHASE4 | RECRUITING | Efficacy of Botox Injection of the Masticatory Muscles in Head &Neck Cancer Patients with Trismus After Radiotherapy |
| NCT06807034 | PHASE4 | ACTIVE_NOT_RECRUITING | Impact of the Oral Microbiota on Relapse in HNSCC Patients |
| NCT06879691 | PHASE4 | ACTIVE_NOT_RECRUITING | A Trial of Nimotuzumab and Pinkiller Efficacy and Pain in Advanced Head and Neck Squamous Cell Carcinoma |
| NCT07158164 | PHASE4 | RECRUITING | DPYD Pharmacogenomics and Fluoropyrimidine (FP) Dose-Adjustment |
| NCT07189897 | PHASE4 | RECRUITING | Apixaban or Enoxaparin After Head and Neck Cancer Surgery |
| NCT00002476 | PHASE3 | COMPLETED | Radiation Therapy With or Without Chemotherapy in Treating Patients With Advanced Head and Neck Cancer |
| NCT00002496 | PHASE3 | COMPLETED | Radiation Therapy With or Without Chemotherapy in Treating Patients With Advanced Cancer of the Larynx |
| NCT00002507 | PHASE3 | COMPLETED | Radiation Therapy and Chemotherapy in Treating Patients With Head and Neck Cancer |
| NCT00002555 | PHASE3 | COMPLETED | High-Dose Radiation Therapy With or Without Chemotherapy in Treating Patients With Head and Neck Cancer |
| NCT00002654 | PHASE3 | COMPLETED | Radiation Therapy With or Without Cisplatin in Treating Patients With Advanced Head and Neck Cancer |
| NCT00002659 | PHASE3 | UNKNOWN | Cisplatin Plus Epinephrine in Treating Patients With Recurrent or Refractory Head and Neck Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): aniridia, aniridia 1, head and neck cancer