ADAM2

gene
On this page

Also known as PH-30bPH30CT15

Summary

ADAM2 (ADAM metallopeptidase domain 2, HGNC:198) is a protein-coding gene on chromosome 8p11.22, encoding Disintegrin and metalloproteinase domain-containing protein 2 (Q99965). Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization.

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 2515 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 116 total — 1 pathogenic
  • MANE Select transcript: NM_001464

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:198
Approved symbolADAM2
NameADAM metallopeptidase domain 2
Location8p11.22
Locus typegene with protein product
StatusApproved
AliasesPH-30b, PH30, CT15
Ensembl geneENSG00000104755
Ensembl biotypeprotein_coding
OMIM601533
Entrez2515

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000265708, ENST00000347580, ENST00000379853, ENST00000520434, ENST00000521880, ENST00000523181

RefSeq mRNA: 3 — MANE Select: NM_001464 NM_001278113, NM_001278114, NM_001464

CCDS: CCDS34884, CCDS64882, CCDS64883

Canonical transcript exons

ENST00000265708 — 21 exons

ExonStartEnd
ENSE000006895003978808539788251
ENSE000006895023978697439787055
ENSE000006895043977702539777161
ENSE000006895183975572839755911
ENSE000006895223974966739749744
ENSE000006895273974931239749450
ENSE000010400703974647239746631
ENSE000011964103976117639761281
ENSE000011964133976684839767043
ENSE000013058863974483039744893
ENSE000013308263980941039809466
ENSE000013826893978866939788740
ENSE000021115563974373539744064
ENSE000021221393983813139838227
ENSE000035237903982158639821662
ENSE000035325193982100239821170
ENSE000036173203976939239769575
ENSE000036192333982481939824897
ENSE000036234903976715339767251
ENSE000036499063983713639837212
ENSE000036713433983394439833999

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 88.08.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1659 / max 106.9071, expressed in 50 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
927800.09263
927790.055047
927810.01833

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
testisUBERON:000047388.08gold quality
left testisUBERON:000453387.87gold quality
right testisUBERON:000453487.30gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047384.12gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099161.15gold quality
colonic epitheliumUBERON:000039737.20gold quality
placentaUBERON:000198737.15gold quality
granulocyteCL:000009437.11gold quality
ventricular zoneUBERON:000305336.48gold quality
cortical plateUBERON:000534336.47gold quality
bone marrow cellCL:000209236.16gold quality
ganglionic eminenceUBERON:000402335.49gold quality
monocyteCL:000057634.45silver quality
leukocyteCL:000073834.41silver quality
right coronary arteryUBERON:000162534.11gold quality
endometriumUBERON:000129533.72gold quality
skeletal muscle tissueUBERON:000113433.38gold quality
prostate glandUBERON:000236733.00gold quality
bone marrowUBERON:000237131.74gold quality
muscle tissueUBERON:000238531.06gold quality
vermiform appendixUBERON:000115430.93gold quality
sural nerveUBERON:001548830.93gold quality
tonsilUBERON:000237230.23gold quality
ectocervixUBERON:001224930.22gold quality
liverUBERON:000210730.13gold quality
stromal cell of endometriumCL:000225529.87gold quality
prefrontal cortexUBERON:000045129.43silver quality
metanephros cortexUBERON:001053329.24silver quality
hypothalamusUBERON:000189829.21gold quality
kidneyUBERON:000211329.13silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no0.82

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, AP1, AR, ATF2, ATF4, BARX1, BCL6, CDX2, CEBPA, CEBPB, CEBPD, CEBPG, CREB1, CREM, CRX, CTNNB1, CUX1, DNMT1, E2F1, E2F6, EGR1, EGR2, ESR1, ESR2, ESRRA, ETS1, ETS2, EZH2, FLI1, FOS, FOSB, FOXA1, FOXA2, FOXC2, FOXH1, FOXM1, FOXO1, FOXP3, GABPA, GATA1

miRNA regulators (miRDB)

26 targeting ADAM2, 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-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-LET-7F-2-3P99.9870.982588
HSA-MIR-1185-1-3P99.9871.042593
HSA-MIR-1185-2-3P99.9871.042593
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-311999.9271.342390
HSA-MIR-627-3P99.9071.423316
HSA-MIR-153-5P99.8973.866317
HSA-MIR-449599.8272.083080
HSA-MIR-366099.6867.331149
HSA-MIR-452699.6867.071136
HSA-MIR-888-3P99.5369.771057
HSA-MIR-203A-3P99.4970.562806
HSA-MIR-194-5P99.0169.651465
HSA-MIR-3145-3P98.8569.072031
HSA-MIR-6840-3P98.6865.951923
HSA-MIR-93498.4970.44581
HSA-MIR-2681-3P98.1865.28577
HSA-MIR-6884-3P98.0565.32750
HSA-MIR-96-3P97.4768.03839
HSA-MIR-517-5P97.1368.43781
HSA-MIR-624-5P96.0068.88728
HSA-MIR-568493.1764.85454

Literature-anchored findings (GeneRIF, showing 14)

  • CG17836/Xrp1 is involved in the regulation of cell proliferation in eye discs and affects disc identity specification. (PMID:23391928)
  • Xrp1 induction in Rp mutant cells depends on a particular Rp with regulatory effects (PMID:30078730)
  • Xrp1 knockdown substantially rescued the motor deficits and life span of flies expressing ALS mutant FUS in motor neurons, implicating gene expression dysregulation in ALS-FUS pathogenesis. (PMID:30209068)
  • demonstrates that RpS12, Xrp1, and Dilp8 form an independent regulatory module that ensures intra- and inter-organ growth coordination during development (PMID:31006647)
  • Findings provide clear molecular and genetic evidence that RpS12 plays a central and early role in generating multiple aspects of the Ribosomal Protein (Rp)+/- phenotype in imaginal discs by activating Xrp1 expression and activity. (PMID:31841522)
  • Roles of C/EBP class bZip proteins in the growth and cell competition of Rp (‘Minute’) mutants in Drosophila. (PMID:31909714)
  • The transcription factor Xrp1 is required for PERK-mediated antioxidant gene induction in Drosophila. (PMID:34605405)
  • Cell competition is driven by Xrp1-mediated phosphorylation of eukaryotic initiation factor 2alpha. (PMID:34871307)
  • Xrp1 and Irbp18 trigger a feed-forward loop of proteotoxic stress to induce the loser status. (PMID:34914692)
  • Xrp1 governs the stress response program to spliceosome dysfunction. (PMID:38303573)
  • The fertilin beta contributes not only to successful fertilization, but may has an important impact in development of preimplantation embryos. (PMID:18292840)
  • ADAM2, CALR3 and SAGE1 cancer/testis antigens are not promising targets for immunotherapy of breast and lung cancer. (PMID:26252478)
  • Assessing the potential of HSPA2 and ADAM2 as two biomarkers for human sperm selection. (PMID:30463455)
  • Is there a relationship between infertility and fertilin beta protein distribution? (PMID:35933293)

Cross-species orthologs

9 orthologs

OrganismSymbolGene ID
danio_rerioadam10bENSDARG00000015502
danio_rerioadam10aENSDARG00000053468
danio_rerioadam9bENSDARG00000057138
mus_musculusAdam2ENSMUSG00000022039
rattus_norvegicusAdam2ENSRNOG00000017027
drosophila_melanogastermmdFBGN0259110
drosophila_melanogasterkuzFBGN0259984
caenorhabditis_eleganssup-17WBGENE00006324
caenorhabditis_elegansWBGENE00006804

Paralogs (20): ADAM22 (ENSG00000008277), ADAM28 (ENSG00000042980), ADAM7 (ENSG00000069206), ADAM11 (ENSG00000073670), ADAM23 (ENSG00000114948), ADAM20 (ENSG00000134007), ADAMDEC1 (ENSG00000134028), ADAM30 (ENSG00000134249), ADAM19 (ENSG00000135074), ADAM10 (ENSG00000137845), ADAM21 (ENSG00000139985), ADAM15 (ENSG00000143537), ADAM12 (ENSG00000148848), ADAM33 (ENSG00000149451), ADAM8 (ENSG00000151651), ADAM17 (ENSG00000151694), ADAM29 (ENSG00000168594), ADAM9 (ENSG00000168615), ADAM18 (ENSG00000168619), ADAM32 (ENSG00000197140)

Protein

Protein identifiers

Disintegrin and metalloproteinase domain-containing protein 2Q99965 (reviewed: Q99965)

Alternative names: Cancer/testis antigen 15, Fertilin subunit beta, PH-30, PH30-beta

All UniProt accessions (3): B4DWY7, Q99965, Q6P2G0

UniProt curated annotations — full annotation on UniProt →

Function. Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein.

Subcellular location. Membrane.

Tissue specificity. Expressed specifically in spermatogenic cells in the seminiferous cells. Not detected in fetal tissues.

Post-translational modifications. The prodomain and the metalloprotease domain are cleaved during the epididymal maturation of the spermatozoa.

Domain organisation. A tripeptide motif (FEE) within disintegrin-like domain could be involved in the binding to egg integrin receptor and thus could mediate sperm/egg binding.

Miscellaneous. In mammals, exists as a heterodimer composed of an alpha and beta subunits. In human, fertilin subunit alpha is a pseudogene.

Isoforms (2)

UniProt IDNamesCanonical?
Q99965-11yes
Q99965-22

RefSeq proteins (3): NP_001265042, NP_001265043, NP_001455* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001590Peptidase_M12BDomain
IPR001762Disintegrin_domDomain
IPR002870Peptidase_M12B_NDomain
IPR006586ADAM_Cys-richDomain
IPR018358Disintegrin_CSConserved_site
IPR024079MetalloPept_cat_dom_sfHomologous_superfamily
IPR034027Reprolysin_adamalysinDomain
IPR036436Disintegrin_dom_sfHomologous_superfamily

Pfam: PF00200, PF01421, PF01562, PF08516

UniProt features (40 total): sequence conflict 16, disulfide bond 7, glycosylation site 5, domain 3, topological domain 2, signal peptide 1, propeptide 1, chain 1, splice variant 1, sequence variant 1, transmembrane region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q99965-F181.050.47

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 (1): 729

Disulfide bonds (7): 287–370, 329–354, 331–336, 445–465, 616–627, 621–633, 635–644

Glycosylation sites (5): 122, 220, 353, 459, 566

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-2534343Interaction With Cumulus Cells And The Zona Pellucida
R-HSA-1187000Fertilization
R-HSA-1474165Reproduction

MSigDB gene sets: 103 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_COGNITION, GOBP_BEHAVIOR, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_ADULT_BEHAVIOR, GOBP_ASSOCIATIVE_LEARNING, GOBP_MEMBRANE_FUSION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOCC_CELL_SURFACE, PID_INTEGRIN_A9B1_PATHWAY, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_LEARNING, GOBP_SPERM_EGG_RECOGNITION, MODULE_99, GOBP_RESPONSE_TO_RADIATION

GO Biological Process (10): proteolysis (GO:0006508), cell adhesion (GO:0007155), binding of sperm to zona pellucida (GO:0007339), fusion of sperm to egg plasma membrane involved in single fertilization (GO:0007342), visual learning (GO:0008542), male gonad development (GO:0008584), gene expression (GO:0010467), positive regulation of gene expression (GO:0010628), adult behavior (GO:0030534), integrin-mediated signaling pathway (GO:0007229)

GO Molecular Function (3): metalloendopeptidase activity (GO:0004222), integrin binding (GO:0005178), metallopeptidase activity (GO:0008237)

GO Cellular Component (4): plasma membrane (GO:0005886), cell surface (GO:0009986), protein-containing complex (GO:0032991), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Fertilization1
Reproduction1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
protein metabolic process1
cellular process1
sperm-egg recognition1
single fertilization1
cellular process involved in reproduction in multicellular organism1
visual behavior1
associative learning1
gonad development1
development of primary male sexual characteristics1
macromolecule biosynthetic process1
gene expression1
regulation of gene expression1
positive regulation of macromolecule biosynthetic process1
behavior1
cell surface receptor signaling pathway1
endopeptidase activity1
metallopeptidase activity1
signaling receptor binding1
protein-containing complex binding1
cell adhesion molecule binding1
peptidase activity1
membrane1
cell periphery1
cellular_component1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

2 interactions, top by confidence:

ABTypeScore
ADAM2ADAMTS2psi-mi:“MI:0914”(association)0.350

BioGRID (13): ASPHD2 (Affinity Capture-MS), C6orf120 (Affinity Capture-MS), ADAMTS2 (Affinity Capture-MS), LRRC3 (Affinity Capture-MS), TTN (Affinity Capture-MS), LCLAT1 (Affinity Capture-MS), ADAM2 (Affinity Capture-Western), ASPHD2 (Affinity Capture-MS), LRRC3 (Affinity Capture-MS), C6orf120 (Affinity Capture-MS), ADAMTS2 (Affinity Capture-MS), ADAM9 (Negative Genetic), EEF2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: F8VQ03, O15072, O15204, O35227, O77780, P58397, P59509, P59510, P70505, P97776, P97857, Q1EHB3, Q28475, Q28478, Q28483, Q28660, Q3TTE0, Q5BK84, Q60411, Q60472, Q60718, Q60813, Q63180, Q63202, Q68SA9, Q811B3, Q811Q4, Q8C9W3, Q8K410, Q8N2E2, Q8R534, Q8TC27, Q8TE59, Q99965, Q9H2U9, Q9JI76, Q9JLN6, Q9R0X2, Q9R157, Q9R158

Diamond homologs: A2CJE2, A2CJE3, A2CJE4, A8QL59, C0LZJ5, C5FUK3, D4B1G0, D4DCV9, E9NW26, F8VQ03, G5EFD5, J3S830, O13766, O35227, O42596, O73795, O75077, O75078, O77780, O93515, O93517, O93518, P0C6B6, P0C6E3, P0C6R9, P0C7B0, P0DJ87, P0DM87, P17497, P23323, P31989, P83912, Q05910, Q0NZX6, Q0NZX7, Q0NZX8, Q0NZX9, Q0NZY0, Q13443, Q13444

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance102
Likely benign7
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
59783GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3Pathogenic

SpliceAI

3963 predictions. Top by Δscore:

VariantEffectΔscore
8:39744828:A:ACdonor_gain1.0000
8:39744829:C:CCdonor_gain1.0000
8:39761174:A:ACdonor_gain1.0000
8:39761175:C:CCdonor_gain1.0000
8:39761175:CTCAG:Cdonor_gain1.0000
8:39761179:G:Cdonor_gain1.0000
8:39767151:A:ACdonor_gain1.0000
8:39767152:C:CCdonor_gain1.0000
8:39767152:CTAGA:Cdonor_gain1.0000
8:39786986:T:TAdonor_gain1.0000
8:39790750:T:TAdonor_gain1.0000
8:39817967:T:TAdonor_gain1.0000
8:39817968:C:Adonor_gain1.0000
8:39833942:A:ACdonor_gain1.0000
8:39833943:C:CCdonor_gain1.0000
8:39834012:CACAG:Cacceptor_gain1.0000
8:39834016:G:GCacceptor_gain1.0000
8:39834022:A:ACacceptor_gain1.0000
8:39834022:A:Cacceptor_gain1.0000
8:39837130:CATTA:Cdonor_loss1.0000
8:39837131:ATTAC:Adonor_loss1.0000
8:39837132:TTACC:Tdonor_loss1.0000
8:39837133:TAC:Tdonor_loss1.0000
8:39837134:A:Cdonor_loss1.0000
8:39837152:T:TAdonor_gain1.0000
8:39837213:C:CCacceptor_gain1.0000
8:39838129:A:ACdonor_gain1.0000
8:39838130:C:CCdonor_gain1.0000
8:39838130:CTA:Cdonor_gain1.0000
8:39744065:C:CCacceptor_gain0.9900

AlphaMissense

4895 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:39749446:C:GC627S0.998
8:39749447:A:TC627S0.998
8:39766868:C:GC496S0.998
8:39766869:A:TC496S0.998
8:39749680:C:GC621S0.997
8:39749681:A:TC621S0.997
8:39755900:C:GC542S0.997
8:39755901:A:TC542S0.997
8:39761185:C:GC535S0.997
8:39761186:A:TC535S0.997
8:39766982:C:GC458S0.997
8:39766983:A:TC458S0.997
8:39749428:C:GC633S0.996
8:39749429:A:TC633S0.996
8:39749740:C:GC601S0.996
8:39749741:A:TC601S0.996
8:39755741:C:GC595S0.996
8:39755742:A:TC595S0.996
8:39755810:C:GC572S0.996
8:39755811:A:TC572S0.996
8:39755885:C:GC547S0.996
8:39755886:A:TC547S0.996
8:39761257:C:GC511S0.996
8:39761258:A:TC511S0.996
8:39766889:C:GC489S0.996
8:39766890:A:TC489S0.996
8:39766904:C:GC484S0.996
8:39766905:A:TC484S0.996
8:39766961:C:GC465S0.996
8:39766962:A:TC465S0.996

dbSNP variants (sampled 300 via entrez): RS1000032713 (8:39760758 G>T), RS1000096148 (8:39785831 T>A), RS1000146245 (8:39800621 T>G), RS1000148409 (8:39828868 C>T), RS1000178366 (8:39800892 C>T), RS1000183252 (8:39754303 C>T), RS1000205684 (8:39780264 C>A,T), RS1000213683 (8:39794739 C>T), RS1000224262 (8:39783794 TACAA>T), RS1000273591 (8:39837737 G>C), RS1000278017 (8:39765338 T>C), RS1000303318 (8:39838034 G>A), RS1000319684 (8:39754620 T>C), RS1000383705 (8:39831561 G>C), RS1000410405 (8:39806257 G>T)

Disease associations

OMIM: gene MIM:601533 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST005042_10Restless legs syndrome2.000000e-34

MeSH disease descriptors (1)

DescriptorNameTree numbers
D018270Carcinoma, Ductal, BreastC04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — M12: Astacin/Adamalysin

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

ChemicalActions (top 5)PubMed papers
Aflatoxin B1decreases methylation, increases methylation2
zinc chloridedecreases expression1
Arsenicaffects methylation1
Benzo(a)pyreneaffects methylation1
Calcitrioldecreases expression, affects cotreatment1
Folic Aciddecreases expression1
Testosteroneaffects cotreatment, decreases expression1
Zincdecreases expression1
Copper Sulfatedecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT03414970PHASE3ACTIVE_NOT_RECRUITINGHypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344PHASE2TERMINATEDDocetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999PHASE2NOT_YET_RECRUITINGRandomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364PHASE1/PHASE2SUSPENDEDHigh Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855PHASE1/PHASE2COMPLETEDTalimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908EARLY_PHASE1COMPLETEDBroccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041EARLY_PHASE1COMPLETEDIntraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974Not specifiedACTIVE_NOT_RECRUITINGNipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198Not specifiedTERMINATEDOncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397Not specifiedUNKNOWNMRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532Not specifiedCOMPLETEDLiving Well After Breast Surgery
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): restless legs syndrome