Gene Gene information from NCBI Gene database.
Entrez ID 102
Gene name ADAM metallopeptidase domain 10
Gene symbol ADAM10
Synonyms (NCBI Gene)
AD10AD18CD156cCDw156HsT18717MADMRAKkuz
Chromosome 15
Chromosome location 15q21.3
Summary Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicin
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs61751103 C>G Risk-factor Missense variant, coding sequence variant
rs145518263 T>C Risk-factor Missense variant, coding sequence variant
rs483352912 G>A Pathogenic Coding sequence variant, missense variant
rs483352913 C>T Pathogenic Coding sequence variant, missense variant
rs483352914 A>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
260
miRTarBase ID miRNA Experiments Reference
MIRT004879 hsa-miR-122-5p Luciferase reporter assayqRT-PCRWestern blot 19726678
MIRT004879 hsa-miR-122-5p Luciferase reporter assayqRT-PCRWestern blot 19726678
MIRT021045 hsa-miR-155-5p Proteomics 21030878
MIRT041888 hsa-miR-484 CLASH 23622248
MIRT728389 hsa-miR-92a-3p HITS-CLIP 22473208
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
PAX2 Unknown 21876729;21880579
SP1 Activation 21854868
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
104
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001701 Process In utero embryonic development ISS
GO:0004175 Function Endopeptidase activity IEA
GO:0004175 Function Endopeptidase activity IMP 24990881, 28855301, 29430990
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602192 188 ENSG00000137845
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14672
Protein name Disintegrin and metalloproteinase domain-containing protein 10 (ADAM 10) (EC 3.4.24.81) (CDw156) (Kuzbanian protein homolog) (Mammalian disintegrin-metalloprotease) (CD antigen CD156c)
Protein function Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins, including adhesion proteins, growth factor precursors and cytokines being essential for development and tissue homeostasis (PubMed:117869
PDB 6BDZ , 6BE6 , 8ESV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 27 156 Reprolysin family propeptide Family
PF13574 Reprolysin_2 239 446 Domain
PF00200 Disintegrin 466 546 Disintegrin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain (at protein level) (PubMed:23676497). Expressed in spleen, lymph node, thymus, peripheral blood leukocyte, bone marrow, cartilage, chondrocytes and fetal liver (PubMed:11511685, PubMed:9016778). {ECO:0000269|PubM
Sequence
MVLLRVLILLLSWAAGMGGQYGNPLNKYIRHYEGLSYNVDSLHQKHQRAKRAVSHEDQFL
RLDFHAHGRHFNLRMKRDTSLFSDEFKVETSNKVLDYDTSHIYTGHIYGEEGSFSHGSVI
DGRFEGFIQTRGGTFYVEPAERYIKDRTLPFHSVIY
HEDDINYPHKYGPQGGCADHSVFE
RMRKYQMTGVEEVTQIPQEEHAANGPELLRKKRTTSAEKNTCQLYIQTDHLFFKYYGTRE
AVIAQISSHVKAIDTIYQTTDFSGIRNISFMVKRIRINTTADEKDPTNPFRFPNIGVEKF
LELNSEQNHDDYCLAYVFTDRDFDDGVLGLAWVGAPSGSSGGICEKSKLYSDGKKKSLNT
GIITVQNYGSHVPPKVSHITFAHEVGHNFGSPHDSGTECTPGESKNLGQKENGNYIMYAR
ATSGDKLNNNKFSLCSIRNISQVLEK
KRNNCFVESGQPICGNGMVEQGEECDCGYSDQCK
DECCFDANQPEGRKCKLKPGKQCSPSQGPCCTAQCAFKSKSEKCRDDSDCAREGICNGFT
ALCPAS
DPKPNFTDCNRHTQVCINGQCAGSICEKYGLEECTCASSDGKDDKELCHVCCMK
KMDPSTCASTGSVQWSRHFSGRTITLQPGSPCNDFRGYCDVFMRCRLVDADGPLARLKKA
IFSPELYENIAEWIVAHWWAVLLMGIALIMLMAGFIKICSVHTPSSNPKLPPPKPLPGTL
KRRRPPQPIQQPQRQRPRESYQMGHMRR
Sequence length 748
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis
Alzheimer disease
Epithelial cell signaling in Helicobacter pylori infection
  Degradation of the extracellular matrix
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
NOTCH3 Activation and Transmission of Signal to the Nucleus
Amyloid fiber formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Reticulate acropigmentation of Kitamura Pathogenic rs483352913, rs483352914, rs483352915, rs483352916 RCV000074428
RCV000074429
RCV000074430
RCV000074431
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2548842351, rs483352912 -
ADAM10-related disorder Benign; Likely benign rs571621608, rs758796553, rs201590398, rs374249563, rs1347493623, rs183295010, rs144826830 RCV003921878
RCV003923841
RCV003979427
RCV003919552
RCV003947137
RCV003957041
RCV003942268
Alzheimer disease 18 Benign; Likely benign; Uncertain significance; risk factor rs111517153, rs61751103, rs145518263 RCV002495405
RCV000077797
RCV000077798
Corticobasal syndrome Conflicting classifications of pathogenicity rs144890810 RCV001090108
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 30786875
Alzheimer Disease Associate 19183255, 19221430, 21196064, 22572541, 22594617, 23546882, 26343025, 29253717, 29777097, 29988083, 31843015, 33129344, 33152005, 35705192, 36411364
View all (2 more)
Alzheimer Disease Inhibit 26555131, 33731436
Amyloidosis Associate 33419465
Arthritis Rheumatoid Associate 15880344
Ascites Associate 30678441
Atherosclerosis Associate 23773531, 35705192
Autoimmune Diseases Associate 33152005
Blister Associate 18200054
Breast Neoplasms Associate 16627989, 19603142, 19783906, 26284334, 32782317