ATRNL1

gene
On this page

Also known as KIAA0534FLJ45344ALP

Summary

ATRNL1 (attractin like 1, HGNC:29063) is a protein-coding gene on chromosome 10q25.3, encoding Attractin-like protein 1 (Q5VV63). May play a role in melanocortin signaling pathways that regulate energy homeostasis.

Predicted to enable Notch binding activity. Predicted to act upstream of or within G protein-coupled receptor signaling pathway. Predicted to be located in membrane.

Source: NCBI Gene 26033 — RefSeq curated summary.

At a glance

  • GWAS associations: 8
  • Clinical variants (ClinVar): 218 total
  • MANE Select transcript: NM_207303

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29063
Approved symbolATRNL1
Nameattractin like 1
Location10q25.3
Locus typegene with protein product
StatusApproved
AliasesKIAA0534, FLJ45344, ALP
Ensembl geneENSG00000107518
Ensembl biotypeprotein_coding
OMIM612869
Entrez26033

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000355044, ENST00000424738, ENST00000449616, ENST00000524503, ENST00000526373, ENST00000526946, ENST00000527407, ENST00000534530, ENST00000609571, ENST00000616894, ENST00000650603, ENST00000943847

RefSeq mRNA: 2 — MANE Select: NM_207303 NM_001276282, NM_207303

CCDS: CCDS73204, CCDS7592

Canonical transcript exons

ENST00000355044 — 29 exons

ExonStartEnd
ENSE00000986750115461941115462035
ENSE00001234284115847877115847991
ENSE00001234294115727248115727355
ENSE00001598484115281355115281487
ENSE00001603299115334282115334419
ENSE00001619722115265193115265277
ENSE00001650462115268326115268444
ENSE00001732000115300034115300247
ENSE00001763357115266797115267005
ENSE00001769012115171037115171292
ENSE00001794611115286216115286397
ENSE00001803926115241571115241725
ENSE00001956054115944658115948999
ENSE00003493527115301855115302043
ENSE00003496503115519263115519324
ENSE00003499523115469172115469329
ENSE00003538216115467174115467252
ENSE00003559078115215697115215880
ENSE00003651669115426250115426302
ENSE00003661812115549458115549536
ENSE00003664106115315518115315736
ENSE00003674296115394659115394752
ENSE00003702472115127593115127721
ENSE00003703573115093365115094043
ENSE00003704837115160040115160214
ENSE00003705579115165558115165645
ENSE00003706493115129327115129535
ENSE00003708238115121699115121812
ENSE00003709427115120185115120268

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 97.99.

FANTOM5 (CAGE): breadth broad, TPM avg 3.9737 / max 143.5361, expressed in 672 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
1071751.3698437
1071740.9210219
1071760.8534319
1071770.5521223
2060010.163870
1071730.113654

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
adrenal tissueUBERON:001830397.99gold quality
middle temporal gyrusUBERON:000277192.60gold quality
orbitofrontal cortexUBERON:000416791.75gold quality
Brodmann (1909) area 46UBERON:000648391.31gold quality
Brodmann (1909) area 10UBERON:001354191.06gold quality
prefrontal cortexUBERON:000045190.06gold quality
frontal poleUBERON:000279589.87gold quality
superior frontal gyrusUBERON:000266188.93gold quality
postcentral gyrusUBERON:000258188.86gold quality
cortical plateUBERON:000534388.61gold quality
buccal mucosa cellCL:000233688.27gold quality
parietal lobeUBERON:000187288.11gold quality
primary visual cortexUBERON:000243688.04gold quality
dorsolateral prefrontal cortexUBERON:000983487.79gold quality
frontal cortexUBERON:000187087.75gold quality
occipital lobeUBERON:000202186.81gold quality
neocortexUBERON:000195086.71gold quality
Brodmann (1909) area 9UBERON:001354086.66gold quality
endothelial cellCL:000011585.20gold quality
cerebral cortexUBERON:000095685.14gold quality
secondary oocyteCL:000065584.55gold quality
lateral nuclear group of thalamusUBERON:000273684.45gold quality
Brodmann (1909) area 23UBERON:001355484.20gold quality
calcaneal tendonUBERON:000370184.10gold quality
right frontal lobeUBERON:000281084.04gold quality
cingulate cortexUBERON:000302783.25gold quality
anterior cingulate cortexUBERON:000983583.14gold quality
islet of LangerhansUBERON:000000681.91gold quality
telencephalonUBERON:000189381.57gold quality
entorhinal cortexUBERON:000272881.37gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-HCAD-25yes1945.86
E-HCAD-35yes107.71
E-GEOD-75688yes88.48
E-ANND-3yes5.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

200 targeting ATRNL1, 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-4533100.0069.482758
HSA-MIR-3163100.0077.238605
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-4425100.0067.591049
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-196A-5P100.0068.16684
HSA-MIR-196B-5P100.0068.16681
HSA-MIR-428299.9975.366408
HSA-MIR-186-5P99.9970.833707
HSA-MIR-366299.9973.825684
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-34A-5P99.9971.211784
HSA-MIR-449A99.9971.051776
HSA-MIR-480399.9871.993117
HSA-MIR-569699.9872.364487
HSA-MIR-548P99.9872.253784
HSA-MIR-477599.9875.006394
HSA-MIR-60799.9773.625593
HSA-MIR-314899.9775.066478
HSA-MIR-365899.9673.874379
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-9-3P99.9670.882068
HSA-MIR-590-3P99.9674.346478
HSA-LET-7C-3P99.9573.422862

Literature-anchored findings (GeneRIF, showing 2)

  • Transgenic overexpression of Attractin-like-1 (Atrnl1), which compensates for loss of ATRN, does not rescue dark-like mutant phenotypes. (PMID:18821597)
  • Transcriptional factor CCAAT enhancer binding protein beta inhibits epithelial-mesenchymal transition in cervical cancer via regulating attractin-like 1. (PMID:38158696)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioatrnl1bENSDARG00000006420
danio_rerioatrnl1aENSDARG00000077188
mus_musculusAtrnl1ENSMUSG00000054843
rattus_norvegicusAtrnl1ENSRNOG00000017406

Paralogs (27): USH2A (ENSG00000042781), LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), ATRN (ENSG00000088812), LAMB4 (ENSG00000091128), LAMB1 (ENSG00000091136), LAMA1 (ENSG00000101680), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), LAMA4 (ENSG00000112769), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)

Protein

Protein identifiers

Attractin-like protein 1Q5VV63 (reviewed: Q5VV63)

All UniProt accessions (6): Q5VV63, A0A087X0X7, A0A3B3ISV6, E9PL90, H0YDQ9, R4GMZ1

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in melanocortin signaling pathways that regulate energy homeostasis.

Subunit / interactions. Interacts with MC4R.

Subcellular location. Membrane.

Isoforms (2)

UniProt IDNamesCanonical?
Q5VV63-11yes
Q5VV63-22

RefSeq proteins (2): NP_001263211, NP_997186* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000742EGFDomain
IPR000859CUB_domDomain
IPR001304C-type_lectin-likeDomain
IPR002049LE_domDomain
IPR002165Plexin_repeatRepeat
IPR015915Kelch-typ_b-propellerHomologous_superfamily
IPR016186C-type_lectin-like/link_sfHomologous_superfamily
IPR016187CTDL_foldHomologous_superfamily
IPR016201PSIDomain
IPR034011Attractin-like_CTLDDomain
IPR035914Sperma_CUB_dom_sfHomologous_superfamily
IPR051568LZTR1/AttractinFamily
IPR056732GBD_ATRNDomain
IPR056737Beta-prop_ATRN-MKLN-likeDomain
IPR056863LMN_ATRN_NET-like_EGFDomain

Pfam: PF00431, PF01437, PF23106, PF24972, PF24973, PF24981

UniProt features (50 total): disulfide bond 15, domain 11, glycosylation site 8, repeat 6, topological domain 2, region of interest 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5VV63-F180.910.41

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (15): 63–79, 81–90, 93–119, 211–221, 215–233, 235–244, 776–872, 1014–1022, 1016–1028, 1031–1040, 1043–1057, 1060–1069, 1062–1076, 1078–1088, 1091–1106

Glycosylation sites (8): 76, 174, 198, 380, 763, 778, 898, 1157

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 172 (showing top): GOZGIT_ESR1_TARGETS_DN, MORF_ZNF10, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, BILD_E2F3_ONCOGENIC_SIGNATURE, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, HTF_01, SCHLOSSER_SERUM_RESPONSE_DN, MORF_EPHA7, MORF_RAB3A, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, MORF_WNT1, FOXJ2_02, GOMF_SIGNALING_RECEPTOR_BINDING, SOX5_01, MORF_IL9

GO Biological Process (1): G protein-coupled receptor signaling pathway (GO:0007186)

GO Molecular Function (3): Notch binding (GO:0005112), carbohydrate binding (GO:0030246), protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding2
G protein-coupled receptor activity1
signal transduction1
signaling receptor binding1
cellular anatomical structure1

Protein interactions and networks

STRING

830 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ATRNL1MC4RP32245595
ATRNL1MC1RQ01726595
ATRNL1ANKRD61A6NGH8411
ATRNL1FHIP2AQ5W0V3391
ATRNL1SLCO6A1Q86UG4389
ATRNL1RNF157Q96PX1374
ATRNL1GRAMD2BQ96HH9351
ATRNL1TTRP02766348
ATRNL1THRAP10827348
ATRNL1SLX4IPQ5VYV7348
ATRNL1BCS1LQ9Y276348
ATRNL1COL3A1P02461347
ATRNL1TMEM216Q9P0N5347
ATRNL1SLC30A5Q8TAD4345
ATRNL1BCL3P20749343

IntAct

127 interactions, top by confidence:

ABTypeScore
ANKRD46ATRNpsi-mi:“MI:0914”(association)0.640
ATRNL1SYNJ2BPpsi-mi:“MI:0407”(direct interaction)0.440
ATRNL1MAGI3psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1LNX2psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1PDZD2psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1MAGI2psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1MAST2psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1HTRA1psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1MAGI1psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1APBA1psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1DLG1psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1PTPN3psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1HTRA3psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1DLG4psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1MAST1psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1TJP2psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1LNX1psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1HTRA4psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1RADILpsi-mi:“MI:0407”(direct interaction)0.440
ATRNL1TAMALINpsi-mi:“MI:0407”(direct interaction)0.440
ATRNL1PATJpsi-mi:“MI:0407”(direct interaction)0.440
ATRNL1DLG3psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1DLG2psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1PDZD7psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1GORASP2psi-mi:“MI:0407”(direct interaction)0.440
ATRNL1SCRIBpsi-mi:“MI:0407”(direct interaction)0.440

BioGRID (28): ATRNL1 (Proximity Label-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Affinity Capture-MS), ATRNL1 (Two-hybrid), ATRNL1 (Two-hybrid), SLC12A4 (Co-fractionation), CLCN4 (Co-fractionation), LNPEP (Co-fractionation), CLCN3 (Co-fractionation), CLCN5 (Co-fractionation), LYSMD4 (Co-fractionation)

ESM2 similar proteins: A0A1D5PUP4, A2AFS3, M0R7X9, O70472, O75882, O95803, P01134, P26012, P52799, P52848, P69849, Q02353, Q05204, Q0VCJ8, Q12841, Q13635, Q15155, Q3UHN9, Q3ZBS2, Q58D84, Q5EA46, Q5JPE7, Q5R9Y1, Q5U4X8, Q5VV63, Q5ZJB7, Q5ZMH6, Q61115, Q62356, Q62632, Q6A051, Q6GQK9, Q6GQT9, Q6P988, Q6UXG2, Q7Z5A7, Q86TD4, Q90693, Q91WE9, Q96CW9

Diamond homologs: A0JP86, A2ASQ1, G5ECE3, O00468, O00634, O09118, O15230, O75445, O75882, O95631, P02468, P11047, P15215, P19137, P24043, P25304, P25391, P31696, P34710, P97927, Q00174, Q01635, Q13751, Q13753, Q16363, Q16787, Q18823, Q19981, Q1LVF0, Q24567, Q24568, Q27262, Q2HXW4, Q2QI47, Q5RB89, Q5VV63, Q60675, Q61001, Q61087, Q61092

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Dopamine Neurotransmitter Release Cycle543.5×6e-06
Assembly and cell surface presentation of NMDA receptors940.1×1e-10
Neurexins and neuroligins1138.0×9e-13
Protein-protein interactions at synapses732.6×1e-07
Neuronal System75.4×4e-03

GO biological processes:

GO termPartnersFoldFDR
establishment or maintenance of epithelial cell apical/basal polarity1066.8×1e-13
protein localization to synapse652.8×2e-07
receptor clustering643.0×6e-07
regulation of postsynaptic membrane neurotransmitter receptor levels739.9×1e-07
protein-containing complex assembly911.8×7e-06
cell-cell adhesion910.5×2e-05
chemical synaptic transmission76.2×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance189
Likely benign5
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

6845 predictions. Top by Δscore:

VariantEffectΔscore
10:115120180:TCCA:Tacceptor_loss1.0000
10:115120182:CAG:Cacceptor_loss1.0000
10:115120184:G:GCacceptor_loss1.0000
10:115120265:GCTA:Gdonor_gain1.0000
10:115120266:CTA:Cdonor_gain1.0000
10:115120269:G:GGdonor_gain1.0000
10:115127591:A:AGacceptor_gain1.0000
10:115127591:AGT:Aacceptor_gain1.0000
10:115127592:G:GGacceptor_gain1.0000
10:115127592:GT:Gacceptor_gain1.0000
10:115127592:GTG:Gacceptor_gain1.0000
10:115127717:TATTC:Tdonor_gain1.0000
10:115127718:ATTC:Adonor_gain1.0000
10:115127718:ATTCG:Adonor_loss1.0000
10:115127719:TTC:Tdonor_gain1.0000
10:115127719:TTCGT:Tdonor_loss1.0000
10:115127720:TC:Tdonor_gain1.0000
10:115127721:CG:Cdonor_loss1.0000
10:115127722:G:GGdonor_gain1.0000
10:115127722:G:Tdonor_loss1.0000
10:115127723:T:TCdonor_loss1.0000
10:115127724:A:ATdonor_loss1.0000
10:115127725:A:ACdonor_loss1.0000
10:115129325:A:AGacceptor_gain1.0000
10:115129326:G:GGacceptor_gain1.0000
10:115129533:AAGG:Adonor_loss1.0000
10:115129534:AGGTA:Adonor_loss1.0000
10:115129536:G:GAdonor_loss1.0000
10:115129537:T:Adonor_loss1.0000
10:115160208:TCCTA:Tdonor_gain1.0000

AlphaMissense

9105 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:115094005:G:CW85C1.000
10:115094005:G:TW85C1.000
10:115094027:T:CC93R1.000
10:115120246:T:AC119S1.000
10:115120246:T:CC119R1.000
10:115120247:G:CC119S1.000
10:115120248:T:GC119W1.000
10:115120252:T:AW121R1.000
10:115120252:T:CW121R1.000
10:115120254:G:CW121C1.000
10:115120254:G:TW121C1.000
10:115120256:T:CL122P1.000
10:115121745:T:AC142S1.000
10:115121745:T:CC142R1.000
10:115121746:G:AC142Y1.000
10:115121746:G:CC142S1.000
10:115121747:T:GC142W1.000
10:115121751:T:AW144R1.000
10:115121751:T:CW144R1.000
10:115121753:G:CW144C1.000
10:115121753:G:TW144C1.000
10:115121754:G:CD145H1.000
10:115121755:A:CD145A1.000
10:115121755:A:GD145G1.000
10:115121755:A:TD145V1.000
10:115127678:A:CS193R1.000
10:115127679:G:TS193I1.000
10:115127680:T:AS193R1.000
10:115127680:T:GS193R1.000
10:115127682:A:CD194A1.000

dbSNP variants (sampled 300 via entrez): RS1000003588 (10:115263847 G>A), RS1000010329 (10:115306001 A>G), RS1000014958 (10:115771380 G>A), RS1000015281 (10:115890567 T>G), RS1000018477 (10:115848254 C>T), RS1000019924 (10:115478183 C>G), RS1000023893 (10:115171620 C>G), RS1000024239 (10:115454152 A>G), RS1000024523 (10:115608738 T>C), RS1000028516 (10:115132190 T>C), RS1000035866 (10:115373836 T>A), RS1000037839 (10:115933401 A>G), RS1000066874 (10:115113025 A>C,G), RS1000083498 (10:115305710 T>C), RS1000100570 (10:115432370 A>C,G)

Disease associations

OMIM: gene MIM:612869 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

StudyTraitp-value
GCST000905_15Information processing speed2.000000e-06
GCST003993_42Menarche (age at onset)3.000000e-09
GCST004162_10Carotid plaque burden9.000000e-06
GCST004691_18Huntington’s disease progression9.000000e-06
GCST007239_18Ovarian cancer8.000000e-06
GCST007325_146General risk tolerance (MTAG)3.000000e-12
GCST007325_207General risk tolerance (MTAG)2.000000e-08
GCST008368_8Plasma anti-thyroid peroxidase levels2.000000e-06

EFO canonical traits (5, from GWAS)

EFO IDTrait name
EFO:0004363information processing speed
EFO:0004703age at menarche
EFO:0006501carotid plaque build
EFO:0008336disease progression measurement
EFO:0008579risk-taking behaviour

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression, decreases methylation8
trichostatin Aincreases expression2
Doxorubicindecreases expression2
aristolochic acid Idecreases expression1
methyleugenoldecreases expression1
terbufosincreases methylation1
sodium arseniteincreases expression1
benzo(e)pyrenedecreases methylation1
aflatoxin B2affects methylation1
perfluorooctane sulfonic aciddecreases expression1
bazedoxifenedecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinaffects cotreatment, increases expression1
bisphenol Sdecreases methylation1
Atrazinedecreases expression1
Benzo(a)pyreneincreases methylation1
Boronincreases expression1
Fonofosincreases methylation1
Estradiolaffects cotreatment, decreases expression, increases expression1
Methapyrilenedecreases methylation1
Parathionincreases methylation1
Tetrachlorodibenzodioxinaffects cotreatment, decreases expression1
Tretinoinincreases expression1
Aflatoxin B1affects methylation1
Cadmium Chlorideincreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Huntington disease