ATMIN

gene
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Also known as ASCIZKIAA0431ZNF822

Summary

ATMIN (ATM interactor, HGNC:29034) is a protein-coding gene on chromosome 16q23.2, encoding ATM interactor (O43313). Transcription factor. It is a selective cancer dependency (DepMap: 15.5% of cell lines).

Enables dynein complex binding activity. Involved in positive regulation of DNA-templated transcription. Located in nuclear body.

Source: NCBI Gene 23300 — RefSeq curated summary.

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 178 total — 1 pathogenic, 1 likely-pathogenic
  • Cancer dependency (DepMap): dependent in 15.5% of screened cell lines
  • MANE Select transcript: NM_015251

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29034
Approved symbolATMIN
NameATM interactor
Location16q23.2
Locus typegene with protein product
StatusApproved
AliasesASCIZ, KIAA0431, ZNF822
Ensembl geneENSG00000166454
Ensembl biotypeprotein_coding
OMIM614693
Entrez23300

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000299575, ENST00000539819, ENST00000562969, ENST00000564241, ENST00000565237, ENST00000566488, ENST00000946484

RefSeq mRNA: 2 — MANE Select: NM_015251 NM_001300728, NM_015251

CCDS: CCDS32494, CCDS73917

Canonical transcript exons

ENST00000299575 — 4 exons

ExonStartEnd
ENSE000012987248103584281036206
ENSE000025887128104316181047350
ENSE000035848908104228181042480
ENSE000035909688104135681041481

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 97.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.3851 / max 178.4977, expressed in 1795 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
15513514.37501795
1551360.01013

Top tissues by expression

301 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
spermCL:000001997.32gold quality
male germ cellCL:000001596.59gold quality
Brodmann (1909) area 23UBERON:001355496.34gold quality
amniotic fluidUBERON:000017395.88gold quality
gingival epitheliumUBERON:000194994.54gold quality
palpebral conjunctivaUBERON:000181294.43gold quality
germinal epithelium of ovaryUBERON:000130494.11gold quality
cortical plateUBERON:000534393.99gold quality
eyeUBERON:000097093.89gold quality
gingivaUBERON:000182893.72gold quality
substantia nigra pars compactaUBERON:000196593.55gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099193.53gold quality
ponsUBERON:000098893.52gold quality
right testisUBERON:000453492.91gold quality
middle temporal gyrusUBERON:000277192.71gold quality
left testisUBERON:000453392.66gold quality
primary visual cortexUBERON:000243692.65gold quality
ganglionic eminenceUBERON:000402392.39gold quality
testisUBERON:000047392.31gold quality
pigmented layer of retinaUBERON:000178292.29gold quality
retinaUBERON:000096692.27gold quality
islet of LangerhansUBERON:000000692.23gold quality
substantia nigra pars reticulataUBERON:000196691.94gold quality
occipital lobeUBERON:000202191.82gold quality
medial globus pallidusUBERON:000247791.74gold quality
esophagus squamous epitheliumUBERON:000692091.67gold quality
placentaUBERON:000198791.55gold quality
superior vestibular nucleusUBERON:000722791.41gold quality
lateral nuclear group of thalamusUBERON:000273691.34gold quality
globus pallidusUBERON:000187591.26gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes9.19
E-MTAB-7303no319.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

114 targeting ATMIN, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-4262100.0073.263931
HSA-MIR-4533100.0069.482758
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-186-5P99.9970.833707
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-477599.9875.006394
HSA-MIR-548AN99.9770.912817
HSA-MIR-34C-5P99.9770.451577
HSA-MIR-449B-5P99.9770.261580
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-302E99.9670.742669
HSA-MIR-391099.9571.132227
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-374A-5P99.9071.342923
HSA-MIR-368699.9070.532432
HSA-MIR-374B-5P99.9069.982734

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 21)

  • ASCIZ acts as a lesion-specific focus scaffold in a Rad51-dependent pathway that resolves cytotoxic repair intermediates, most likely single-stranded DNA gaps, resulting from MLH1-dependent processing of base lesions. (PMID:15933716)
  • ATM/ATR-Substrate Chk2-Interacting Zn2+-finger protein (ASCIZ) required for repair of abasic sites after methylating and oxidative DNA damage but not double-strand breaks. Forms DNA damage-induced foci with RAD51 and ssDNA. ASCIZ foci depend on MLH1. (PMID:15933716)
  • ATMIN defines a novel NBS1-independent pathway of ATM signalling. (PMID:17525732)
  • These data suggest that ASCIZ may affect the choice between competing base repair pathways in a manner that reduces the amount of substrates available for Ig gene conversion. (PMID:18433721)
  • ASCIZ (ATMIN) is structurally related to the yeast ATM/ATR substrate Mdt1 (Pin4/Ybl051c); both proteins contain SQ/TQ cluster domains and interact with N-terminal FHA domains of CHK2/Rad53 kinases. (PMID:18728389)
  • Absence of Asciz (Atmin) leads to increased oxidative and methylating DNA base damage sensitivity in primary fibroblasts (PMID:20975950)
  • Asciz (Atmin) deletion or knock-down does not affect ATM levels and activation in mouse, chicken, or human cells (PMID:20975950)
  • these results imply a potential cellular interference between DYNLL1 and ATMIN functions. (PMID:21971545)
  • The ASCIZ-DYNLL1 feedback loop represents a novel mechanism for auto-regulation of gene expression, where the gene product directly inhibits the transcriptional activator while bound at its own promoter. (PMID:22167198)
  • ATMIN is required for cell cycle progression and chromosome segregation following replication stress.ATMIN is required for the ATM-mediated signaling and recruitment of 53BP1 to DNA damage sites upon replication stress. (PMID:25262557)
  • WRNIP1 connects PCNA monoubiquitination with ATMIN/ATM to activate ATM signalling in response to replication stress and contribute to the maintenance of genomic stability. (PMID:26549024)
  • Repression of ATMIN in hypoxia is mediated by both p53 and HIF-1alpha in an oxygen dependent manner. (PMID:26875667)
  • Studies suggest that ATM INteractor (ATMIN) could be an important biomarker in disease prognosis and treatment that might lighten the burden of chronic kidney disease and also affect on its progression. (PMID:27913685)
  • The study results improve our understanding of the ATMIN-KRas axis leading to HNSCC migration or invasion and metastasis and facilitates the identification of possible therapy targets of downstream genes for designing effective therapeutic strategies in personalized medicine (PMID:28012797)
  • ASCIZ/ATMIN is dispensable for ATM activation, and contradict the previously reported dependence of ATM on ASCIZ/ATMIN. (PMID:28648892)
  • This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1. (PMID:30414501)
  • PPARgamma promotes ATM signaling and is essential for UBR5 activity targeting ATM interactor (ATMIN). (PMID:30699358)
  • ATMIN is located close to FRA16D and is commonly lost in lung adenocarcinoma (LUAD)and was associated with reduced patient survival. ATMIN is a tumor suppressor in LUAD; fragility at chr16q23 correlates with loss of ATMIN in human LUAD. (PMID:31481498)
  • ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer. (PMID:34148137)
  • MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression. (PMID:34321465)
  • Transcription factor ATMIN facilitates chemoresistance in nasopharyngeal carcinoma. (PMID:38321024)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioatminENSDARG00000068601
mus_musculusAtminENSMUSG00000047388
rattus_norvegicusAABR07043951.1ENSRNOG00000011422

Paralogs (3): RIOK2 (ENSG00000058729), RIOK3 (ENSG00000101782), RIOK1 (ENSG00000124784)

Protein

Protein identifiers

ATM interactorO43313 (reviewed: O43313)

Alternative names: ATM/ATR-substrate CHK2-interacting zinc finger protein, Zinc finger protein 822

All UniProt accessions (2): O43313, J3QRX7

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor. Plays a crucial role in cell survival and RAD51 foci formation in response to methylating DNA damage. Involved in regulating the activity of ATM in the absence of DNA damage. May play a role in stabilizing ATM. Binds to the DYNLL1 promoter and activates its transcription.

Subunit / interactions. Interacts via its C-terminus with ATM. Interacts with DYNLL1; this interaction inhibits ATMIN transcriptional activity and hence may play a role in a feedback loop whereby DYNLL1 inhibits transactivation of its own promoter by ATMIN.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed in normal tissues and cancer cell lines with highest levels in placenta and skeletal muscle.

Isoforms (2)

UniProt IDNamesCanonical?
O43313-11yes
O43313-22

RefSeq proteins (2): NP_001287657, NP_056066* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR013087Znf_C2H2_typeDomain
IPR055303ATMINFamily
IPR056380Znf_C2H2_ASCIZ_4thDomain
IPR056381Znf_C2HC_ASCIZ_3rdDomain
IPR056545C2H2_ASCIZ_1st_2ndDomain

Pfam: PF24757, PF24759, PF24761

UniProt features (23 total): sequence conflict 8, region of interest 5, compositionally biased region 4, zinc finger region 2, sequence variant 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O43313-F147.670.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 162 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GCM_MAP4K4, TATTATA_MIR374, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, ONKEN_UVEAL_MELANOMA_UP, GOBP_CILIUM_ORGANIZATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_CILIUM_ASSEMBLY, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION

GO Biological Process (7): regulation of transcription by RNA polymerase II (GO:0006357), DNA damage response (GO:0006974), positive regulation of gene expression (GO:0010628), motile cilium assembly (GO:0044458), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of non-motile cilium assembly (GO:1902857)

GO Molecular Function (7): transcription cis-regulatory region binding (GO:0000976), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), zinc ion binding (GO:0008270), dynein complex binding (GO:0070840), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), nuclear body (GO:0016604)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of DNA-templated transcription2
transcription by RNA polymerase II2
regulation of transcription by RNA polymerase II2
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
cellular response to stress1
gene expression1
regulation of gene expression1
positive regulation of macromolecule biosynthetic process1
cilium assembly1
DNA-templated transcription1
positive regulation of RNA biosynthetic process1
positive regulation of DNA-templated transcription1
positive regulation of cilium assembly1
regulation of non-motile cilium assembly1
non-motile cilium assembly1
transcription regulatory region nucleic acid binding1
sequence-specific double-stranded DNA binding1
chromatin1
DNA-binding transcription factor activity1
DNA-binding transcription factor activity, RNA polymerase II-specific1
DNA-binding transcription activator activity1
positive regulation of transcription by RNA polymerase II1
transition metal ion binding1
protein-containing complex binding1
binding1
cation binding1
intracellular membrane-bounded organelle1
nucleoplasm1
intracellular membraneless organelle1

Protein interactions and networks

STRING

936 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ATMINATMQ13315961
ATMINCHEK2O96017842
ATMINDYNLL1P63167793
ATMINUBR5O95071707
ATMINWRNIP1Q96S55544
ATMINNBNO60934479
ATMINRAD18Q9NS91434
ATMINTP53BP1Q12888434
ATMINNKX3-1Q99801424
ATMINUBR3Q6ZT12413
ATMINFAN1Q9Y2M0394
ATMINMDC1Q14676383
ATMINWWC1Q8IX03379
ATMINPRKDCP78527378
ATMINKAT7O95251371
ATMINMRNIPQ6NTE8371

IntAct

14 interactions, top by confidence:

ABTypeScore
DYNLL1BLTP3Bpsi-mi:“MI:0914”(association)0.730
DYNLL2BLTP3Bpsi-mi:“MI:0914”(association)0.640
ATMATMINpsi-mi:“MI:0915”(physical association)0.560
ATMINATMpsi-mi:“MI:0915”(physical association)0.560
ATMATMINpsi-mi:“MI:0403”(colocalization)0.560
BRAPATMINpsi-mi:“MI:0915”(physical association)0.370
ATMINOAS2psi-mi:“MI:0914”(association)0.350

BioGRID (23): ATMIN (Two-hybrid), WRNIP1 (Affinity Capture-Western), WRNIP1 (Affinity Capture-MS), CAPN13 (Affinity Capture-MS), SPECC1L (Affinity Capture-MS), ATMIN (Affinity Capture-RNA), ATMIN (Affinity Capture-Western), ATMIN (Affinity Capture-Western), ATMIN (Positive Genetic), OAS2 (Affinity Capture-MS), ATMIN (Affinity Capture-MS), ATMIN (Affinity Capture-MS), CAPN13 (Affinity Capture-MS), SPECC1L (Affinity Capture-MS), ATMIN (Affinity Capture-MS)

ESM2 similar proteins: A0A5K7RLP0, A1YEX3, A5GFT6, B8A5Y1, E1BKK0, F1LMN3, O35914, O43313, O88850, P24278, P86174, P97303, Q01954, Q12766, Q14B70, Q17R98, Q3ULM6, Q498S6, Q505G8, Q5RC05, Q5RDQ6, Q5W0Q7, Q68FE9, Q69ZB8, Q6A098, Q6P9S1, Q6ZPY5, Q6ZU67, Q6ZVT6, Q7Z4V0, Q8BFU3, Q8BHZ4, Q8CCH7, Q8IW35, Q8ND24, Q8TCN5, Q8VHI4, Q8VIG2, Q8WW38, Q91YE5

Diamond homologs: B1B534, B8BGV5, F4IPE3, F4JYZ8, O22759, O43313, Q0WT24, Q2QX40, Q6P9S1, Q700D2, Q8GYC1, Q8H1F5, Q8RWX7, Q8VWG3, Q8W030, Q8W031, Q943I6, Q944L3, Q9C8N5, Q9C9X7, Q9FFH3, Q9FRH4, Q9FX68, Q9LRW7, Q9LVQ7, Q9SCQ6, Q9SGD1, Q9SVY1, Q9ZUL3, Q9ZWA6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

178 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic1
Uncertain significance154
Likely benign10
Benign1

Top pathogenic / likely-pathogenic (2)

Variant IDHGVSClassification
584186NC_000016.9:g.(?80623263)(81411221_?)delPathogenic
815850GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1Likely pathogenic

SpliceAI

496 predictions. Top by Δscore:

VariantEffectΔscore
16:81036206:GGTG:Gdonor_loss1.0000
16:81036207:GTG:Gdonor_loss1.0000
16:81041350:TTGCA:Tacceptor_loss1.0000
16:81041351:TGCA:Tacceptor_loss1.0000
16:81041352:GCAG:Gacceptor_loss1.0000
16:81041353:CAG:Cacceptor_loss1.0000
16:81041441:GCCC:Gdonor_gain1.0000
16:81036208:T:Gdonor_loss0.9900
16:81041354:A:AGacceptor_gain0.9900
16:81041354:AG:Aacceptor_gain0.9900
16:81041354:AGGAT:Aacceptor_gain0.9900
16:81041355:G:GGacceptor_gain0.9900
16:81041355:GG:Gacceptor_gain0.9900
16:81041355:GGAT:Gacceptor_gain0.9900
16:81041355:GGATG:Gacceptor_gain0.9900
16:81041477:AACAG:Adonor_loss0.9900
16:81041478:ACAGG:Adonor_loss0.9900
16:81041479:CAG:Cdonor_loss0.9900
16:81041480:AGGTA:Adonor_loss0.9900
16:81041481:GG:Gdonor_loss0.9900
16:81041482:GTACT:Gdonor_loss0.9900
16:81041483:T:Adonor_loss0.9900
16:81043159:AG:Aacceptor_gain0.9900
16:81043160:GG:Gacceptor_gain0.9900
16:81042523:G:Tdonor_gain0.9800
16:81043155:TTTCA:Tacceptor_loss0.9800
16:81043156:TTCA:Tacceptor_loss0.9800
16:81043157:TCAG:Tacceptor_loss0.9800
16:81043158:CA:Cacceptor_loss0.9800
16:81043159:A:AGacceptor_gain0.9800

AlphaMissense

5413 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:81036126:T:AC86S1.000
16:81036126:T:CC86R1.000
16:81036127:G:AC86Y1.000
16:81036127:G:CC86S1.000
16:81036128:C:GC86W1.000
16:81036180:C:GH104D1.000
16:81036182:C:AH104Q1.000
16:81036182:C:GH104Q1.000
16:81042283:C:AH155Q1.000
16:81042283:C:GH155Q1.000
16:81042317:T:CC167R1.000
16:81042326:T:AC170S1.000
16:81042326:T:CC170R1.000
16:81042327:G:CC170S1.000
16:81042357:T:CL180P1.000
16:81036127:G:TC86F0.999
16:81036154:T:AL95Q0.999
16:81036172:T:AL101H0.999
16:81036172:T:CL101P0.999
16:81036178:T:CM103T0.999
16:81036180:C:AH104N0.999
16:81036181:A:GH104R0.999
16:81036184:T:CL105P0.999
16:81036189:A:GK107E0.999
16:81036191:G:CK107N0.999
16:81036191:G:TK107N0.999
16:81036195:C:GH109D0.999
16:81036197:C:AH109Q0.999
16:81036197:C:GH109Q0.999
16:81041410:T:GY131D0.999

dbSNP variants (sampled 300 via entrez): RS1000208492 (16:81035723 C>T), RS1000710888 (16:81047836 A>G), RS1000878749 (16:81039857 G>T), RS1000928831 (16:81037271 T>A,C,G), RS1001231457 (16:81035569 C>G), RS1001304706 (16:81040642 G>A), RS1001470193 (16:81036369 C>T), RS1001714675 (16:81047241 T>C), RS1001766852 (16:81047482 A>G), RS1002223275 (16:81037331 C>T), RS1002237196 (16:81036930 G>A), RS1002439364 (16:81042013 C>A,T), RS1002477674 (16:81037151 C>A,T), RS1002711242 (16:81041768 G>A,C,T), RS1002856367 (16:81034512 CA>C,CAA)

Disease associations

OMIM: gene MIM:614693 | disease phenotypes: MIM:256850

GenCC curated gene-disease

Mondo (1): giant axonal neuropathy 1 (MONDO:0009749)

Orphanet (1): Giant axonal neuropathy (Orphanet:643)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

StudyTraitp-value
GCST004602_281Mean corpuscular volume1.000000e-10
GCST005958_20Waist-to-hip ratio adjusted for BMI (age >50)4.000000e-06
GCST005962_30Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)1.000000e-06
GCST90002390_95Mean corpuscular hemoglobin1.000000e-11
GCST90002392_511Mean corpuscular volume7.000000e-15

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0007788BMI-adjusted waist-hip ratio
EFO:0008007age at assessment
EFO:0008343sex interaction measurement
EFO:0004527mean corpuscular hemoglobin

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, decreases methylation, increases expression3
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
sodium arseniteincreases expression1
cobaltous chlorideincreases expression1
di-n-butylphosphoric acidaffects expression1
deguelindecreases expression1
fenpyroximatedecreases expression1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamidedecreases expression1
pyrimidifendecreases expression1
Sunitinibincreases expression1
Leflunomidedecreases expression1
Acetaminophenincreases expression1
Air Pollutantsaffects expression, increases abundance1
Antimycin Adecreases expression1
Benzo(a)pyreneincreases expression1
Cadmiumdecreases expression1
Doxorubicindecreases expression1
Methyl Methanesulfonatedecreases expression1
Ozoneincreases abundance, affects expression1
Rotenonedecreases expression1
Seleniumincreases expression, decreases expression, affects cotreatment1
Dihydrotestosteroneincreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoindecreases expression1
Vitamin Eaffects cotreatment, increases expression, decreases expression1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxideincreases expression1
Cyclosporinedecreases expression1
Cadmium Chloridedecreases expression1
Lactic Aciddecreases expression1

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT03333200Not specifiedRECRUITINGLongitudinal Study of Neurodegenerative Disorders
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): giant axonal neuropathy 1