ARL6IP6
geneOn this page
Also known as MGC33864
Summary
ARL6IP6 (ARF like GTPase 6 interacting protein 6, HGNC:24048) is a protein-coding gene on chromosome 2q23.3, encoding ADP-ribosylation factor-like protein 6-interacting protein 6 (Q8N6S5).
Predicted to be located in nuclear inner membrane.
Source: NCBI Gene 151188 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cutis marmorata telangiectatica congenita (Limited, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 48 total — 1 likely-pathogenic
- Phenotypes (HPO): 32
- MANE Select transcript:
NM_152522
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24048 |
| Approved symbol | ARL6IP6 |
| Name | ARF like GTPase 6 interacting protein 6 |
| Location | 2q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC33864 |
| Ensembl gene | ENSG00000177917 |
| Ensembl biotype | protein_coding |
| OMIM | 616495 |
| Entrez | 151188 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 11 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined
ENST00000326446, ENST00000425034, ENST00000455875, ENST00000463690, ENST00000495469, ENST00000685752, ENST00000686080, ENST00000686839, ENST00000686951, ENST00000687504, ENST00000688012, ENST00000688130, ENST00000688171, ENST00000688293, ENST00000689155, ENST00000690119, ENST00000690703, ENST00000690727, ENST00000691523, ENST00000691702, ENST00000692124, ENST00000692399, ENST00000693573
RefSeq mRNA: 3 — MANE Select: NM_152522
NM_001350068, NM_001371972, NM_152522
CCDS: CCDS2197, CCDS92880
Canonical transcript exons
ENST00000326446 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001288604 | 152759747 | 152762396 |
| ENSE00001288614 | 152718620 | 152719024 |
| ENSE00003467576 | 152734994 | 152735126 |
| ENSE00003493000 | 152720533 | 152720586 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 98.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.1533 / max 315.5645, expressed in 1819 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 23103 | 33.5838 | 1817 |
| 23102 | 3.5545 | 1565 |
| 23101 | 1.4207 | 744 |
| 23105 | 0.3048 | 86 |
| 23104 | 0.2895 | 111 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 98.15 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.63 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.51 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 95.67 | gold quality |
| placenta | UBERON:0001987 | 94.67 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.53 | gold quality |
| skin of hip | UBERON:0001554 | 94.12 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 94.03 | gold quality |
| upper leg skin | UBERON:0004262 | 94.01 | gold quality |
| oral cavity | UBERON:0000167 | 93.39 | gold quality |
| parietal pleura | UBERON:0002400 | 92.59 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.39 | gold quality |
| oviduct epithelium | UBERON:0004804 | 92.39 | gold quality |
| bone marrow | UBERON:0002371 | 92.27 | gold quality |
| mammalian vulva | UBERON:0000997 | 92.22 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.98 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.82 | gold quality |
| bronchus | UBERON:0002185 | 91.82 | gold quality |
| visceral pleura | UBERON:0002401 | 91.75 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.63 | gold quality |
| superficial temporal artery | UBERON:0001614 | 91.49 | gold quality |
| adult organism | UBERON:0007023 | 91.19 | gold quality |
| thymus | UBERON:0002370 | 91.10 | gold quality |
| jejunal mucosa | UBERON:0000399 | 91.05 | gold quality |
| tibia | UBERON:0000979 | 90.93 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 90.83 | gold quality |
| seminal vesicle | UBERON:0000998 | 90.74 | gold quality |
| lower lobe of lung | UBERON:0008949 | 90.68 | gold quality |
| monocyte | CL:0000576 | 90.57 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.51 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 20.95 |
| E-MTAB-7381 | no | 224.81 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
128 targeting ARL6IP6, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
Literature-anchored findings (GeneRIF, showing 1)
- ARL6IP6 as a novel candidate gene for a syndromic form of CMTC. (PMID:25957586)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arl6ip6 | ENSDARG00000071013 |
| mus_musculus | Arl6ip6 | ENSMUSG00000026960 |
| rattus_norvegicus | Arl6ip6 | ENSRNOG00000005074 |
Protein
Protein identifiers
ADP-ribosylation factor-like protein 6-interacting protein 6 — Q8N6S5 (reviewed: Q8N6S5)
Alternative names: Phosphonoformate immuno-associated protein 1
All UniProt accessions (9): Q8N6S5, A0A8I5KQ30, A0A8I5KQY4, A0A8I5KRB3, A0A8I5KU55, A0A8I5KYK3, A0A8I5QJ95, H7C0H7, H7C192
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus inner membrane.
Similarity. Belongs to the ARL6IP6 family.
RefSeq proteins (3): NP_001336997, NP_001358901, NP_689735* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029383 | ARL6IP6 | Family |
Pfam: PF15062
UniProt features (13 total): modified residue 5, transmembrane region 3, 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-Q8N6S5-F1 | 56.77 | 0.00 |
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 (5): 65, 80, 2, 36, 60
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 232 (showing top):
HORIUCHI_WTAP_TARGETS_DN, FISCHER_G1_S_CELL_CYCLE, LFA1_Q6, CMYB_01, HNF4_01, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, FISCHER_DREAM_TARGETS, ZHANG_BREAST_CANCER_PROGENITORS_UP, RGAGGAARY_PU1_Q6, GOCC_NUCLEAR_ENVELOPE, NUYTTEN_EZH2_TARGETS_DN, GOCC_ORGANELLE_INNER_MEMBRANE, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): nuclear inner membrane (GO:0005637), nucleus (GO:0005634), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| organelle inner membrane | 1 |
| nuclear membrane | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
374 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL6IP6 | FMNL2 | Q96PY5 | 646 |
| ARL6IP6 | RFTN2 | Q52LD8 | 552 |
| ARL6IP6 | PLBD2 | Q8NHP8 | 518 |
| ARL6IP6 | MED29 | Q9NX70 | 485 |
| ARL6IP6 | HEMK2 | Q9Y5N5 | 482 |
| ARL6IP6 | ATP6V1A | P38606 | 425 |
| ARL6IP6 | FAM177A1 | Q8N128 | 374 |
| ARL6IP6 | TMED8 | Q6PL24 | 371 |
| ARL6IP6 | ANGEL2 | Q5VTE6 | 366 |
| ARL6IP6 | MTIF3 | Q9H2K0 | 364 |
| ARL6IP6 | MRPS9 | P82933 | 351 |
| ARL6IP6 | RNASE13 | Q5GAN3 | 337 |
| ARL6IP6 | SDS | P20132 | 333 |
| ARL6IP6 | PLEKHH2 | Q8IVE3 | 328 |
| ARL6IP6 | ARL14EP | Q8N8R7 | 326 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HMOX1 | psi-mi:“MI:0914”(association) | 0.740 | |
| SLC10A1 | ARL6IP6 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ARL6IP6 | AQP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL6IP6 | GPR61 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL6IP6 | CMTM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL6IP6 | TMEM80 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP6 | ARL6IP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EBP | ARL6IP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL6IP6 | RUSF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM205 | ARL6IP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJA8 | ARL6IP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL6IP6 | TIMMDC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLRN2 | ARL6IP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM86B | ARL6IP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBXA2R | ARL6IP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MGST3 | ARL6IP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPINT2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ARL6IP6 | YKT6 | psi-mi:“MI:0914”(association) | 0.530 |
| AOC3 | AOC2 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC2B | ASPHD2 | psi-mi:“MI:0914”(association) | 0.530 |
| ARL6IP6 | DRD2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Bmpr1a | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PLOD2 | psi-mi:“MI:0914”(association) | 0.350 | |
| ARL6IP6 | ARPC1B | psi-mi:“MI:0914”(association) | 0.350 |
| ARL6IP6 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LPAR1 | GOSR2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (120): YKT6 (Affinity Capture-MS), DUSP3 (Affinity Capture-MS), PNPO (Affinity Capture-MS), BLVRB (Affinity Capture-MS), GSTM1 (Affinity Capture-MS), CBFB (Affinity Capture-MS), PMVK (Affinity Capture-MS), NME2P1 (Affinity Capture-MS), NAA50 (Affinity Capture-MS), UBE2D2 (Affinity Capture-MS), PYGB (Affinity Capture-MS), SNX3 (Affinity Capture-MS), ARL6IP6 (Affinity Capture-MS), PNPO (Affinity Capture-MS), DUSP3 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GRQ0, A0A1B0GSZ0, A0A1B0GVT2, A0A590UK83, A0PK05, A2VDU1, A2VE22, A4QNL6, A5D7B5, A5D992, O43609, O75324, P0DKX4, P29414, P61807, P61808, Q0VFM5, Q15053, Q16655, Q17Q87, Q1L0X2, Q2KIK3, Q2TBG9, Q3MHM8, Q498C7, Q4V921, Q58CU5, Q5RBD8, Q5RF07, Q5RGQ8, Q64448, Q6UWT2, Q80ZU4, Q8BGN6, Q8BUM6, Q8C3K5, Q8C817, Q8K1D8, Q8N6S5, Q91VT8
Diamond homologs: Q3MHM8, Q68FV2, Q8BH07, Q8N6S5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 38 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2500155 | NM_152522.7(ARL6IP6):c.373C>T (p.Leu125Phe) | Likely pathogenic |
SpliceAI
1580 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:152734991:AAG:A | acceptor_gain | 1.0000 |
| 2:152734992:A:G | acceptor_gain | 1.0000 |
| 2:152735122:TTC:T | donor_gain | 1.0000 |
| 2:152735124:CAAGT:C | donor_loss | 1.0000 |
| 2:152735125:AAG:A | donor_loss | 1.0000 |
| 2:152735126:AGT:A | donor_loss | 1.0000 |
| 2:152735127:G:GG | donor_gain | 1.0000 |
| 2:152735127:GTAAG:G | donor_loss | 1.0000 |
| 2:152735128:TAA:T | donor_loss | 1.0000 |
| 2:152735129:AAGTA:A | donor_loss | 1.0000 |
| 2:152718016:G:T | donor_gain | 0.9900 |
| 2:152718020:G:GT | donor_gain | 0.9900 |
| 2:152718043:G:GT | donor_gain | 0.9900 |
| 2:152718043:G:T | donor_gain | 0.9900 |
| 2:152720531:A:AG | acceptor_gain | 0.9900 |
| 2:152720532:G:GG | acceptor_gain | 0.9900 |
| 2:152720532:GA:G | acceptor_gain | 0.9900 |
| 2:152720532:GAGTT:G | acceptor_gain | 0.9900 |
| 2:152727179:A:AG | donor_gain | 0.9900 |
| 2:152734987:T:A | acceptor_gain | 0.9900 |
| 2:152734988:GTTAA:G | acceptor_loss | 0.9900 |
| 2:152734989:TTAA:T | acceptor_loss | 0.9900 |
| 2:152734990:TAAG:T | acceptor_loss | 0.9900 |
| 2:152734991:A:AG | acceptor_gain | 0.9900 |
| 2:152734993:G:A | acceptor_gain | 0.9900 |
| 2:152734993:G:GC | acceptor_loss | 0.9900 |
| 2:152735122:TTCAA:T | donor_gain | 0.9900 |
| 2:152735123:TCA:T | donor_gain | 0.9900 |
| 2:152735130:AGTAT:A | donor_loss | 0.9900 |
| 2:152741502:G:GT | donor_gain | 0.9900 |
AlphaMissense
1448 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:152735044:A:C | S169R | 0.998 |
| 2:152735046:C:A | S169R | 0.998 |
| 2:152735046:C:G | S169R | 0.998 |
| 2:152735053:T:A | W172R | 0.996 |
| 2:152735053:T:C | W172R | 0.996 |
| 2:152759799:G:C | G214R | 0.995 |
| 2:152759800:G:A | G214D | 0.994 |
| 2:152735092:T:C | F185L | 0.993 |
| 2:152735094:T:A | F185L | 0.993 |
| 2:152735094:T:G | F185L | 0.993 |
| 2:152735041:T:C | C168R | 0.992 |
| 2:152759781:A:C | S208R | 0.992 |
| 2:152759783:C:A | S208R | 0.992 |
| 2:152759783:C:G | S208R | 0.992 |
| 2:152759798:T:A | N213K | 0.992 |
| 2:152759798:T:G | N213K | 0.992 |
| 2:152735038:T:C | C167R | 0.991 |
| 2:152735029:G:A | G164R | 0.990 |
| 2:152735029:G:C | G164R | 0.990 |
| 2:152735030:G:A | G164E | 0.990 |
| 2:152759766:T:C | F203L | 0.989 |
| 2:152759768:C:A | F203L | 0.989 |
| 2:152759768:C:G | F203L | 0.989 |
| 2:152759778:T:C | Y207H | 0.988 |
| 2:152735072:A:T | D178V | 0.987 |
| 2:152735074:T:C | S179P | 0.987 |
| 2:152735065:T:G | Y176D | 0.985 |
| 2:152759775:G:C | G206R | 0.985 |
| 2:152735077:T:C | F180L | 0.983 |
| 2:152735079:T:A | F180L | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000008360 (2:152715675 C>T), RS1000010697 (2:152752199 T>C), RS1000037764 (2:152760299 C>T), RS1000046795 (2:152720394 T>C), RS1000169314 (2:152745966 T>G), RS1000176764 (2:152760891 G>A), RS1000248823 (2:152720761 G>T), RS1000250326 (2:152752510 T>C), RS1000289351 (2:152725793 T>A), RS1000426507 (2:152716527 T>A,C), RS1000519651 (2:152755348 C>T), RS1000560755 (2:152726195 G>A), RS1000561411 (2:152734480 A>G), RS1000583262 (2:152740474 G>A), RS1000584473 (2:152722181 C>T)
Disease associations
OMIM: gene MIM:616495 | disease phenotypes: MIM:209900
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cutis marmorata telangiectatica congenita | Limited | Autosomal recessive |
Mondo (2): Bardet-Biedl syndrome (MONDO:0015229), cutis marmorata telangiectatica congenita (MONDO:0009055)
Orphanet (1): Bardet-Biedl syndrome (Orphanet:110)
HPO phenotypes
32 total (30 of 32 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000202 | Orofacial cleft |
| HP:0000347 | Micrognathia |
| HP:0000541 | Retinal detachment |
| HP:0000555 | Leukocoria |
| HP:0000821 | Hypothyroidism |
| HP:0000951 | Abnormality of the skin |
| HP:0000965 | Cutis marmorata |
| HP:0000979 | Purpura |
| HP:0001250 | Seizure |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001541 | Ascites |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001770 | Toe syndactyly |
| HP:0001933 | Subcutaneous hemorrhage |
| HP:0002650 | Scoliosis |
| HP:0002814 | Abnormality of the lower limb |
| HP:0002817 | Abnormality of the upper limb |
| HP:0004349 | Reduced bone mineral density |
| HP:0005306 | Capillary hemangioma |
| HP:0006101 | Finger syndactyly |
| HP:0006385 | Short lower limbs |
| HP:0007565 | Multiple cafe-au-lait spots |
| HP:0008065 | Aplasia/Hypoplasia of the skin |
| HP:0100026 | Arteriovenous malformation |
| HP:0100543 | Cognitive impairment |
| HP:0100545 | Arterial stenosis |
| HP:0100555 | Asymmetric growth |
| HP:0100585 | Telangiectasia of the skin |
| HP:0100627 | Displacement of the urethral meatus |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004748_71 | Lung cancer | 4.000000e-06 |
| GCST005434_30 | Pancreatic cancer | 3.000000e-07 |
| GCST010002_400 | Refractive error | 6.000000e-11 |
| GCST012303_5 | Recurrent major depressive disorder x sex interaction | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008343 | sex interaction measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D020788 | Bardet-Biedl Syndrome | C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125 |
| C536226 | Cutis marmorata telangiectatica congenita (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 2 |
| sodium arsenite | affects splicing, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| K 7174 | 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 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Calcitriol | affects cotreatment, decreases expression | 1 |
| Dietary Carbohydrates | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Testosterone | decreases expression, affects cotreatment | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Urethane | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
17 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03746522 | PHASE3 | COMPLETED | Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity |
| NCT04966741 | PHASE3 | COMPLETED | Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity |
| NCT05194124 | PHASE3 | COMPLETED | Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway |
| NCT03490019 | PHASE2 | WITHDRAWN | Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement |
| NCT00078091 | Not specified | TERMINATED | Genetics and Clinical Characteristics of Bardet-Biedl Syndrome |
| NCT00213811 | Not specified | COMPLETED | Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults |
| NCT01401998 | Not specified | RECRUITING | ARPKD Database Study |
| NCT02329210 | Not specified | RECRUITING | Clinical Registry Investigating Bardet-Biedl Syndrome |
| NCT02435940 | Not specified | RECRUITING | Inherited Retinal Degenerative Disease Registry |
| NCT04461444 | Not specified | RECRUITING | COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study |
| NCT04463316 | Not specified | RECRUITING | GROWing Up With Rare GENEtic Syndromes |
| NCT04874909 | Not specified | COMPLETED | Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM) |
| NCT05183802 | Not specified | APPROVED_FOR_MARKETING | An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS) |
| NCT05400278 | Not specified | COMPLETED | Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome |
| NCT06239064 | Not specified | ACTIVE_NOT_RECRUITING | Early Genetic Identification of Obesity |
| NCT06615011 | Not specified | NOT_YET_RECRUITING | Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report |
| NCT07602803 | Not specified | COMPLETED | The Effect of GLP1 Agonists on Weight Loss in BBS Cohort in the UK |
Related Atlas pages
- Associated diseases: cutis marmorata telangiectatica congenita
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Bardet-Biedl syndrome, cutis marmorata telangiectatica congenita