ADCK5
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Also known as FLJ35454
Summary
ADCK5 (aarF domain containing kinase 5, HGNC:21738) is a protein-coding gene on chromosome 8q24.3, encoding Uncharacterized aarF domain-containing protein kinase 5 (Q3MIX3). The function of this protein is not yet clear.
Predicted to enable protein serine/threonine kinase activity. Located in mitochondrion.
Source: NCBI Gene 203054 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 145 total — 12 pathogenic, 4 likely-pathogenic
- Druggable target: yes — 2 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_174922
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21738 |
| Approved symbol | ADCK5 |
| Name | aarF domain containing kinase 5 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ35454 |
| Ensembl gene | ENSG00000173137 |
| Ensembl biotype | protein_coding |
| OMIM | 621165 |
| Entrez | 203054 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 17 protein_coding, 3 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 retained_intron
ENST00000308860, ENST00000525136, ENST00000526231, ENST00000526833, ENST00000529654, ENST00000532190, ENST00000533715, ENST00000534714, ENST00000886485, ENST00000886486, ENST00000886487, ENST00000886488, ENST00000886489, ENST00000886490, ENST00000913502, ENST00000913503, ENST00000913504, ENST00000913505, ENST00000913506, ENST00000913507, ENST00000967045, ENST00000967046, ENST00000967047, ENST00000967048
RefSeq mRNA: 1 — MANE Select: NM_174922
NM_174922
CCDS: CCDS34965
Canonical transcript exons
ENST00000308860 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001295689 | 144392969 | 144393242 |
| ENSE00002195876 | 144374047 | 144374107 |
| ENSE00003228407 | 144391580 | 144391711 |
| ENSE00003397799 | 144391783 | 144391866 |
| ENSE00003473203 | 144391134 | 144391274 |
| ENSE00003477672 | 144390856 | 144391056 |
| ENSE00003507800 | 144391361 | 144391474 |
| ENSE00003516989 | 144383081 | 144383230 |
| ENSE00003573301 | 144392092 | 144392170 |
| ENSE00003578683 | 144392776 | 144392892 |
| ENSE00003593402 | 144390671 | 144390746 |
| ENSE00003595410 | 144392254 | 144392345 |
| ENSE00003622788 | 144379387 | 144379490 |
| ENSE00003637100 | 144391941 | 144392022 |
| ENSE00003638157 | 144392445 | 144392697 |
Expression profiles
Bgee: expression breadth ubiquitous, 136 present calls, max score 90.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3417 / max 103.1972, expressed in 1778 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91505 | 9.0261 | 1777 |
| 91504 | 0.3156 | 111 |
Top tissues by expression
136 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 90.48 | gold quality |
| duodenum | UBERON:0002114 | 88.53 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.00 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 86.75 | gold quality |
| small intestine | UBERON:0002108 | 86.28 | gold quality |
| granulocyte | CL:0000094 | 86.22 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.22 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.13 | gold quality |
| cerebellum | UBERON:0002037 | 86.08 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.84 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 85.53 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.37 | gold quality |
| transverse colon | UBERON:0001157 | 85.11 | gold quality |
| left adrenal gland | UBERON:0001234 | 84.73 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.72 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.44 | gold quality |
| right lobe of liver | UBERON:0001114 | 84.09 | gold quality |
| spleen | UBERON:0002106 | 84.04 | gold quality |
| adrenal gland | UBERON:0002369 | 83.20 | gold quality |
| apex of heart | UBERON:0002098 | 82.92 | gold quality |
| intestine | UBERON:0000160 | 82.90 | gold quality |
| right ovary | UBERON:0002118 | 82.80 | gold quality |
| colon | UBERON:0001155 | 82.44 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.43 | gold quality |
| right frontal lobe | UBERON:0002810 | 81.57 | gold quality |
| endocervix | UBERON:0000458 | 81.56 | gold quality |
| left ovary | UBERON:0002119 | 81.53 | gold quality |
| body of stomach | UBERON:0001161 | 81.39 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.23 | gold quality |
| vagina | UBERON:0000996 | 81.23 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 48.69 |
| E-ANND-3 | yes | 3.63 |
| E-MTAB-6075 | no | 15.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
3 targeting ADCK5, 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-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-4690-3P | 97.02 | 64.72 | 981 |
| HSA-MIR-5685 | 97.02 | 64.34 | 1004 |
Literature-anchored findings (GeneRIF, showing 1)
- aarF domain containing kinase 5 gene promotes invasion and migration of lung cancer cells through ADCK5-SOX9-PTTG1 pathway. (PMID:32277958)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | adck5 | ENSDARG00000075405 |
| mus_musculus | Adck5 | ENSMUSG00000022550 |
| rattus_norvegicus | Adck5 | ENSRNOG00000030334 |
| drosophila_melanogaster | Adck5 | FBGN0036142 |
Paralogs (4): ADCK1 (ENSG00000063761), COQ8B (ENSG00000123815), ADCK2 (ENSG00000133597), COQ8A (ENSG00000163050)
Protein
Protein identifiers
Uncharacterized aarF domain-containing protein kinase 5 — Q3MIX3 (reviewed: Q3MIX3)
All UniProt accessions (4): Q3MIX3, E9PJ20, E9PLF3, R4GN53
UniProt curated annotations — full annotation on UniProt →
Function. The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).
Subcellular location. Membrane.
Similarity. Belongs to the protein kinase superfamily. ADCK protein kinase family.
RefSeq proteins (1): NP_777582* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004147 | ABC1_dom | Domain |
| IPR011009 | Kinase-like_dom_sf | Homologous_superfamily |
| IPR045307 | ADCK1_dom | Domain |
| IPR051130 | Mito_struct-func_regulator | Family |
Pfam: PF03109
UniProt features (7 total): sequence conflict 3, chain 1, transmembrane region 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3MIX3-F1 | 82.08 | 0.43 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 48 (showing top):
TGCGCANK_UNKNOWN, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, GOMF_PROTEIN_KINASE_ACTIVITY, GOMF_KINASE_ACTIVITY, GOMF_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, PANGAS_TUMOR_SUPPRESSION_BY_SMAD1_AND_SMAD5_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, chr8q24, NKX2_3_TARGET_GENES, RYBP_TARGET_GENES, SALL4_TARGET_GENES, SNAI1_TARGET_GENES, UBN1_TARGET_GENES, ZNF561_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (4): protein serine/threonine kinase activity (GO:0004674), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (2): mitochondrion (GO:0005739), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein kinase activity | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
942 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ADCK5 | FBXL6 | Q8N531 | 605 |
| ADCK5 | COQ3 | Q9NZJ6 | 590 |
| ADCK5 | COQ4 | Q9Y3A0 | 576 |
| ADCK5 | SLC33A2 | Q96ES6 | 556 |
| ADCK5 | COQ5 | Q5HYK3 | 555 |
| ADCK5 | ADCK2 | Q7Z695 | 523 |
| ADCK5 | LRRC14 | Q15048 | 523 |
| ADCK5 | MROH1 | Q8NDA8 | 506 |
| ADCK5 | CPSF1 | Q10570 | 502 |
| ADCK5 | TONSL | Q96HA7 | 497 |
| ADCK5 | COQ2 | Q96H96 | 481 |
| ADCK5 | SLC39A4 | Q6P5W5 | 460 |
| ADCK5 | COQ6 | Q9Y2Z9 | 459 |
| ADCK5 | PPP1R16A | Q96I34 | 456 |
| ADCK5 | COQ9 | O75208 | 451 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NOTCH2NLA | ADCK5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ADCK5 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.670 |
| ANKRD22 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| Dlg4 | ADCK5 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TNS2 | ADCK5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSPA6 | ADCK5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ADCK5 | RHOD | psi-mi:“MI:0915”(physical association) | 0.370 |
| Junb | RGPD3 | psi-mi:“MI:0914”(association) | 0.350 |
| ADCK5 | ATP5F1B | psi-mi:“MI:0914”(association) | 0.350 |
| ADCK5 | AKR1B10 | psi-mi:“MI:0914”(association) | 0.350 |
| ADCK5 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| ADCK5 | ZMPSTE24 | psi-mi:“MI:0914”(association) | 0.350 |
| LETM1 | LETM2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN3B | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (18): ADCK5 (Affinity Capture-MS), NOTCH2NL (Two-hybrid), ADCK5 (Two-hybrid), ADCK5 (Affinity Capture-MS), ADCK5 (Affinity Capture-MS), HOGA1 (Affinity Capture-MS), STOML2 (Affinity Capture-MS), CHCHD2 (Affinity Capture-MS), IMMT (Affinity Capture-MS), C1QBP (Affinity Capture-MS), PMPCB (Affinity Capture-MS), ADCK5 (Affinity Capture-MS), ADCK5 (Affinity Capture-MS), TMEM160 (Affinity Capture-MS), ZMPSTE24 (Affinity Capture-MS)
ESM2 similar proteins: A0A172M468, A3QIE3, A8ACY4, A9BP42, A9MY99, B0BU10, B0RLZ0, B0U2R2, B1KR05, B2I583, B2ST34, B2VG47, B3GZD0, B4SZ75, B4TBR5, B4TNY1, B5BIY1, B5EZV0, B5FNW8, B5QW75, B5RFM6, B8F6K1, B9ME24, C0Q3E3, C3K8U2, O42653, O60111, P0A197, P0A198, Q02981, Q06567, Q2P8Q0, Q3BZ34, Q3KJC7, Q3MIX3, Q3YVD0, Q4V052, Q566J8, Q57HN6, Q5H616
Diamond homologs: A0A172M468, A0KEF8, A0L1M6, A1AI24, A1RP80, A1SAK0, A1U669, A3D9F4, A3QIE3, A4STK9, A4WFY3, A4XPM5, A4Y2Q3, A5F4G3, A6WIE7, A7MQL5, A7ZU42, A8A6U2, A8ACY4, A8G8C0, A8H968, A9KYL6, B0RLZ0, B0TJ18, B0U2R2, B1IW70, B1KR05, B1LM23, B1XAJ9, B1XWR5, B2I583, B2ST34, B2TVI6, B2VG47, B3PH50, B5FF80, B5YY84, B6EHA6, B6I4H7, B7L998
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ADCK5 | “up-regulates activity” | SOX9 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
145 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 12 |
| Likely pathogenic | 4 |
| Uncertain significance | 99 |
| Likely benign | 9 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (16)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1454990 | NC_000008.10:g.(?144295143)(145701139_?)del | Pathogenic |
| 148271 | GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 | Pathogenic |
| 1527465 | GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) | Pathogenic |
| 394633 | GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 | Pathogenic |
| 4682719 | GRCh37/hg19 8q24.13-24.3(chr8:126446968-146295771)x3 | Pathogenic |
| 523293 | GRCh37/hg19 8q24.3(chr8:142840194-146280020) | Pathogenic |
| 563531 | GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 | Pathogenic |
| 57047 | GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 | Pathogenic |
| 686463 | GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 | Pathogenic |
| 689071 | GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 | Pathogenic |
| 815163 | GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 | Pathogenic |
| 815169 | GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 | Pathogenic |
| 148265 | GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 | Likely pathogenic |
| 148392 | GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 | Likely pathogenic |
| 3384214 | Single allele | Likely pathogenic |
| 442205 | GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 | Likely pathogenic |
SpliceAI
2299 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:144383228:CAGG:C | donor_loss | 1.0000 |
| 8:144383229:AGGTA:A | donor_loss | 1.0000 |
| 8:144383230:GGT:G | donor_loss | 1.0000 |
| 8:144383231:GTAGG:G | donor_loss | 1.0000 |
| 8:144383232:T:G | donor_loss | 1.0000 |
| 8:144390842:AT:A | acceptor_gain | 1.0000 |
| 8:144390843:T:G | acceptor_gain | 1.0000 |
| 8:144390843:T:TA | acceptor_gain | 1.0000 |
| 8:144390847:T:A | acceptor_gain | 1.0000 |
| 8:144390849:T:TA | acceptor_gain | 1.0000 |
| 8:144391053:GGAG:G | donor_gain | 1.0000 |
| 8:144391054:G:GT | donor_gain | 1.0000 |
| 8:144391054:GAGGT:G | donor_loss | 1.0000 |
| 8:144391055:AGGT:A | donor_loss | 1.0000 |
| 8:144391056:GGT:G | donor_loss | 1.0000 |
| 8:144391057:GTG:G | donor_loss | 1.0000 |
| 8:144391058:T:A | donor_loss | 1.0000 |
| 8:144391131:CAGG:C | acceptor_loss | 1.0000 |
| 8:144391132:A:AG | acceptor_gain | 1.0000 |
| 8:144391132:AG:A | acceptor_gain | 1.0000 |
| 8:144391132:AGGT:A | acceptor_gain | 1.0000 |
| 8:144391132:AGGTG:A | acceptor_gain | 1.0000 |
| 8:144391133:G:GA | acceptor_loss | 1.0000 |
| 8:144391133:G:GG | acceptor_gain | 1.0000 |
| 8:144391133:GG:G | acceptor_gain | 1.0000 |
| 8:144391133:GGT:G | acceptor_gain | 1.0000 |
| 8:144391133:GGTG:G | acceptor_gain | 1.0000 |
| 8:144391133:GGTGG:G | acceptor_gain | 1.0000 |
| 8:144391272:A:T | donor_gain | 1.0000 |
| 8:144391274:GGTAT:G | donor_loss | 1.0000 |
AlphaMissense
3769 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:144391218:A:C | S210R | 0.998 |
| 8:144391220:C:A | S210R | 0.998 |
| 8:144391220:C:G | S210R | 0.998 |
| 8:144391274:G:C | K228N | 0.998 |
| 8:144391274:G:T | K228N | 0.998 |
| 8:144392005:A:G | D360G | 0.997 |
| 8:144392140:A:T | D382V | 0.997 |
| 8:144390954:G:C | K147N | 0.994 |
| 8:144390954:G:T | K147N | 0.994 |
| 8:144391233:C:G | H215D | 0.994 |
| 8:144392141:C:A | D382E | 0.994 |
| 8:144392141:C:G | D382E | 0.994 |
| 8:144390905:C:A | A131D | 0.993 |
| 8:144391272:A:G | K228E | 0.993 |
| 8:144391613:T:C | F278L | 0.993 |
| 8:144391615:C:A | F278L | 0.993 |
| 8:144391615:C:G | F278L | 0.993 |
| 8:144392140:A:C | D382A | 0.993 |
| 8:144392279:T:A | W401R | 0.993 |
| 8:144392279:T:C | W401R | 0.993 |
| 8:144390963:G:C | Q150H | 0.992 |
| 8:144390963:G:T | Q150H | 0.992 |
| 8:144391270:T:A | V227E | 0.992 |
| 8:144391634:G:C | A285P | 0.992 |
| 8:144391790:T:C | L313P | 0.992 |
| 8:144392006:C:A | D360E | 0.992 |
| 8:144392006:C:G | D360E | 0.992 |
| 8:144392021:C:A | N365K | 0.992 |
| 8:144392021:C:G | N365K | 0.992 |
| 8:144392626:C:A | N483K | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000037071 (8:144379294 C>T), RS1000323141 (8:144373060 A>G), RS1000673675 (8:144373328 T>C), RS1001094363 (8:144377624 G>A), RS1001325200 (8:144385243 G>A), RS1001364441 (8:144393113 T>C), RS1001535833 (8:144388250 G>A,C,T), RS1001758144 (8:144382497 A>G,T), RS1001943346 (8:144374606 C>T), RS1002398784 (8:144374344 C>T), RS1002504892 (8:144371382 C>A), RS1003435139 (8:144383432 C>T), RS1003664988 (8:144375503 A>G), RS1003920382 (8:144391867 G>A,C,T), RS1004150617 (8:144386046 T>C)
Disease associations
OMIM: gene MIM:621165 | disease phenotypes: MIM:131950, MIM:226670, MIM:612138, MIM:613723, MIM:616487, MIM:236100, MIM:614707, MIM:179613
GenCC curated gene-disease
Mondo (9): epidermolysis bullosa simplex 5A, Ogna type (MONDO:0007555), epidermolysis bullosa simplex 5B, with muscular dystrophy (MONDO:0009181), epidermolysis bullosa simplex 5C, with pyloric atresia (MONDO:0012807), autosomal recessive limb-girdle muscular dystrophy type 2Q (MONDO:0013390), epidermolysis bullosa simplex with nail dystrophy (MONDO:0014661), holoprosencephaly (MONDO:0016296), Brown-Vialetto-van Laere syndrome 2 (MONDO:0013867), recombinant 8 syndrome (MONDO:0008365), intellectual disability (MONDO:0001071)
Orphanet (9): Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684), Holoprosencephaly (Orphanet:2162), Plectin-related limb-girdle muscular dystrophy R17 (Orphanet:254361), Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257), PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement (Orphanet:79401), RFVT3-related riboflavin transporter deficiency (Orphanet:572550), Riboflavin transporter deficiency (Orphanet:97229), Recombinant 8 syndrome (Orphanet:96167), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003981_3 | Insomnia | 7.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007876 | insomnia measurement |
MeSH disease descriptors (6)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D016142 | Holoprosencephaly | C05.660.207.410; C10.500.034.875; C16.131.077.410; C16.131.260.380; C16.131.621.207.410; C16.131.666.034.875; C16.320.180.380 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| C535955 | Epidermolysa bullosa simplex and limb girdle muscular dystrophy (supp.) | |
| C567408 | Epidermolysis Bullosa Simplex With Pyloric Atresia (supp.) | |
| C535962 | Epidermolysis bullosa simplex, Ogna type (supp.) | |
| C535296 | Recombinant chromosome 8 syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105886 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 10,850 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL180022 | NERATINIB | 4 | 9,404 |
| CHEMBL1091644 | LINSITINIB | 3 | 1,446 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — ABC1-B subfamily
ChEMBL bioactivities
2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.70 | Kd | 202 | nM | LINSITINIB |
| 6.10 | Kd | 796 | nM | NERATINIB |
PubChem BioAssay actives
2 with measured affinity, of 143 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 3-[8-amino-1-(2-phenylquinolin-7-yl)imidazo[1,5-a]pyrazin-3-yl]-1-methylcyclobutan-1-ol | 1424906: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry. | kd | 0.2020 | uM |
| Neratinib | 1424906: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry. | kd | 0.7960 | uM |
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | decreases expression, affects expression | 2 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Smoke | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3991619 | Binding | Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by ma | The target landscape of clinical kinase drugs. — Science |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SB65 | HAP1 ADCK5 (-) 1 | Cancer cell line | Male |
| CVCL_SB66 | HAP1 ADCK5 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT05989620 | Not specified | RECRUITING | Long-Term Development of Muscular Dystrophy Outcome Assessments |
| NCT00005016 | Not specified | COMPLETED | Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly |
| NCT00088426 | Not specified | COMPLETED | Clinical and Genetic Studies on Holoprosencephaly |
| NCT00645645 | Not specified | COMPLETED | A Study of the Genetic Analysis of Brain Disorders |
| NCT04691414 | Not specified | COMPLETED | Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects. |
| NCT03479476 | PHASE2/PHASE3 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome |
| NCT02616796 | PHASE1/PHASE2 | COMPLETED | Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome |
| NCT06860672 | EARLY_PHASE1 | RECRUITING | Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation |
| NCT00597948 | Not specified | COMPLETED | Healthy Lifestyles for People With Intellectual Disabilities |
| NCT01087320 | Not specified | RECRUITING | Genome Medical Sequencing for Gene Discovery |
| NCT01652963 | Not specified | UNKNOWN | Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills |
| NCT01695395 | Not specified | COMPLETED | Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder |
| NCT01867554 | Not specified | COMPLETED | Research and Characterization of New Genes Involved in Intellectual Disability |
| NCT01915381 | Not specified | COMPLETED | Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities |
| NCT01988623 | Not specified | COMPLETED | Pivotal Response Treatment for Individuals With Intellectual Disabilities |
| NCT02099773 | Not specified | COMPLETED | Support Staff-client Interactions With Augmentative and Alternative Communication |
| NCT02136849 | Not specified | COMPLETED | Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic |
| NCT02225041 | Not specified | COMPLETED | Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood |
| NCT02414438 | Not specified | COMPLETED | Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study |
| NCT02451761 | Not specified | COMPLETED | Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability |
| NCT02461420 | Not specified | ACTIVE_NOT_RECRUITING | Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome |
| NCT02461459 | Not specified | ACTIVE_NOT_RECRUITING | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) |
| NCT02486081 | Not specified | COMPLETED | Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population |
| NCT02504502 | Not specified | COMPLETED | Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients |
| NCT02513277 | Not specified | COMPLETED | Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study |
| NCT02561754 | Not specified | COMPLETED | Weight Management for Adolescents With IDD |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal recessive limb-girdle muscular dystrophy type 2Q, Brown-Vialetto-van Laere syndrome 2, epidermolysis bullosa simplex 5A, Ogna type, epidermolysis bullosa simplex 5B, with muscular dystrophy, epidermolysis bullosa simplex 5C, with pyloric atresia, epidermolysis bullosa simplex with nail dystrophy, holoprosencephaly, recombinant 8 syndrome