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Aliases for ADAM10 Gene

Aliases for ADAM10 Gene

  • ADAM Metallopeptidase Domain 10 2 3 5
  • Mammalian Disintegrin-Metalloprotease 3 4
  • Kuzbanian Protein Homolog 3 4
  • EC 3.4.24.81 4 56
  • CDw156 3 4
  • MADM 3 4
  • Kuz 3 4
  • Disintegrin And Metalloproteinase Domain-Containing Protein 10 3
  • A Disintegrin And Metalloproteinase Domain 10 2
  • A Disintegrin And Metalloprotease Domain 10 3
  • CD156c Antigen 4
  • EC 3.4.24 56
  • HsT18717 3
  • ADAM 10 4
  • CD156c 3
  • AD10 3
  • AD18 3
  • RAK 3

External Ids for ADAM10 Gene

Previous GeneCards Identifiers for ADAM10 Gene

  • GC15M054446
  • GC15M051936
  • GC15M056466
  • GC15M056605
  • GC15M056566
  • GC15M056676
  • GC15M058887
  • GC15M035711

Summaries for ADAM10 Gene

Entrez Gene Summary for ADAM10 Gene

  • Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes an ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]

GeneCards Summary for ADAM10 Gene

ADAM10 (ADAM Metallopeptidase Domain 10) is a Protein Coding gene. Diseases associated with ADAM10 include Reticulate Acropigmentation Of Kitamura and Alzheimer Disease 18. Among its related pathways are Signaling by NOTCH1 and EPH-Ephrin signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and receptor binding. An important paralog of this gene is ADAM17.

UniProtKB/Swiss-Prot for ADAM10 Gene

  • Cleaves the membrane-bound precursor of TNF-alpha at 76-Ala- -Val-77 to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP) (PubMed:26686862, PubMed:11786905). Contributes to the normal cleavage of the cellular prion protein (PubMed:11477090). Involved in the cleavage of the adhesion molecule L1 at the cell surface and in released membrane vesicles, suggesting a vesicle-based protease activity (PubMed:12475894). Controls also the proteolytic processing of Notch and mediates lateral inhibition during neurogenesis (By similarity). Responsible for the FasL ectodomain shedding and for the generation of the remnant ADAM10-processed FasL (FasL APL) transmembrane form (PubMed:17557115). Also cleaves the ectodomain of the integral membrane proteins CORIN and ITM2B (PubMed:19114711, PubMed:21288900). May regulate the EFNA5-EPHA3 signaling (PubMed:16239146).

Gene Wiki entry for ADAM10 Gene

Additional gene information for ADAM10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAM10 Gene

Genomics for ADAM10 Gene

GeneHancer (GH) Regulatory Elements for ADAM10 Gene

Promoters and enhancers for ADAM10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I058746 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 560.7 +1.0 984 4.4 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ADAM10 SLTM RNF111 PIGHP1 BNIP2 LOC101928725 ENSG00000278513
GH15I058769 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.9 -21.9 -21910 3.8 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 LOC101928725 MINDY2 ADAM10 SLTM RNF111 BNIP2 PIGHP1 ENSG00000259402
GH15I058465 Enhancer 1.4 Ensembl ENCODE dbSUPER 23.8 +279.8 279836 9.2 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 FOS DEK JUNB ADAM10 LIPC MINDY2 SNORD3P1 LOC101928725 ENSG00000277790 LIPC-AS1 ALDH1A2
GH15I058457 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20.2 +290.9 290899 4 HDGF IRF4 YY1 ATF7 FOS RUNX3 RXRA JUNB REST PPARG LIPC ADAM10 AQP9 LOC101928725 MINDY2 SNORD3P1 SLTM ENSG00000277790 ALDH1A2 LIPC-AS1
GH15I058515 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 18.2 +232.3 232286 4.5 HDAC1 ATF1 PKNOX1 RAD21 ATF7 IKZF2 RUNX3 ZNF592 SMARCA4 IKZF1 SLTM ADAM10 LIPC ENSG00000225798 RNF111 AQP9 ENSG00000259476 LIPC-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAM10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAM10 gene promoter:

Genomic Locations for ADAM10 Gene

Genomic Locations for ADAM10 Gene
chr15:58,588,807-58,749,978
(GRCh38/hg38)
Size:
161,172 bases
Orientation:
Minus strand
chr15:58,887,403-59,042,177
(GRCh37/hg19)

Genomic View for ADAM10 Gene

Genes around ADAM10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAM10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAM10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAM10 Gene

Proteins for ADAM10 Gene

  • Protein details for ADAM10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14672-ADA10_HUMAN
    Recommended name:
    Disintegrin and metalloproteinase domain-containing protein 10
    Protein Accession:
    O14672
    Secondary Accessions:
    • B4DU28
    • Q10742
    • Q92650

    Protein attributes for ADAM10 Gene

    Size:
    748 amino acids
    Molecular mass:
    84142 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with EPHA2 (By similarity). Forms a ternary EFNA5-EPHA3-ADAM10 complex mediating EFNA5 extracellular domain shedding by ADAM10 which regulates the EFNA5-EPHA3 complex internalization and function, the cleavage occurs in trans, with ADAM10 and its substrate being on the membranes of opposing cells (PubMed:16239146). Interacts with NGF in a divalent cation-dependent manner (PubMed:20164177). Interacts with TSPAN14; the interaction promotes ADAM10 maturation and cell surface expression (PubMed:26668317, PubMed:26686862). Interacts with TSPAN5, TSPAN10, TSPAN15, TSPAN17 and TSPAN33; these interactions regulate ADAM10 substrate specificity (PubMed:26686862).

    Three dimensional structures from OCA and Proteopedia for ADAM10 Gene

    Alternative splice isoforms for ADAM10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAM10 Gene

Selected DME Specific Peptides for ADAM10 Gene

O14672:
  • IQTDHLF
  • TITLQPGSPCN
  • TSGDKLNNNKFS
  • TALCPASDPKPNFTDCNRHTQVCINGQCAGSICEK
  • LKPGKQCSPSQGPCCT
  • KLYSDGKKKSLNTGIITVQNYGSHVPPKVSHITFAHEVGH
  • YDTSHIYTG
  • GEECDCG
  • CFVESGQPICGNG
  • TCASTGS
  • TDFSGIRNISFMVKRIRIN
  • YQMGHMR
  • RNISQVL
  • GYCDVFMRCRLVDADGPLARLKKAIF

Post-translational modifications for ADAM10 Gene

  • The precursor is cleaved by a furin endopeptidase.
  • Ubiquitination at posLast=410410 and Lys601
  • Glycosylation at Ser36, Thr130, Asn267, Asn278, Asn439, and posLast=551551

Domains & Families for ADAM10 Gene

Gene Families for ADAM10 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

O14672

UniProtKB/Swiss-Prot:

ADA10_HUMAN :
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
Domain:
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
  • The Cys-rich region C-terminal to the disintegrin domain functions as a substrate-recognition module, it recognizes the EFNA5-EPHA3 Complex but not the individual proteins (By similarity). Both Cys-rich and stalk region are necessary for interaction with TSPAN5, TSPAN10, TSPAN14, TSPAN17, TSPAN33 (PubMed:26668317). Stalk region is sufficient for interaction with TSPAN15 (By similarity).
genes like me logo Genes that share domains with ADAM10: view

Function for ADAM10 Gene

Molecular function for ADAM10 Gene

GENATLAS Biochemistry:
a disintegrin and metalloprotease (active) domain 10,membrane anchored,cell surface adhesion protein with a shorter alternatively spliced form,homolog to Drosophila Kuzbanian gene,expressed in articular cartilage and metaphyseal bone,involved in cell-cell and cell-matrix interactions,regulating sympathoadrenal cell fate in development and neoplasia,maybe presenting alpha secretase activity,involved in the proteolytic processing of APP
UniProtKB/Swiss-Prot CatalyticActivity:
Endopeptidase of broad specificity.
UniProtKB/Swiss-Prot Function:
Cleaves the membrane-bound precursor of TNF-alpha at 76-Ala- -Val-77 to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including heparin-binding epidermal growth-like factor, ephrin-A2, CD44, CDH2 and for constitutive and regulated alpha-secretase cleavage of amyloid precursor protein (APP) (PubMed:26686862, PubMed:11786905). Contributes to the normal cleavage of the cellular prion protein (PubMed:11477090). Involved in the cleavage of the adhesion molecule L1 at the cell surface and in released membrane vesicles, suggesting a vesicle-based protease activity (PubMed:12475894). Controls also the proteolytic processing of Notch and mediates lateral inhibition during neurogenesis (By similarity). Responsible for the FasL ectodomain shedding and for the generation of the remnant ADAM10-processed FasL (FasL APL) transmembrane form (PubMed:17557115). Also cleaves the ectodomain of the integral membrane proteins CORIN and ITM2B (PubMed:19114711, PubMed:21288900). May regulate the EFNA5-EPHA3 signaling (PubMed:16239146).
UniProtKB/Swiss-Prot Induction:
In osteoarthritis affected-cartilage.

Enzyme Numbers (IUBMB) for ADAM10 Gene

Phenotypes From GWAS Catalog for ADAM10 Gene

Gene Ontology (GO) - Molecular Function for ADAM10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IEA,ISS --
GO:0004222 metalloendopeptidase activity TAS,IEA --
GO:0005102 receptor binding NAS 12176995
GO:0005178 integrin binding NAS 8694785
GO:0005515 protein binding IPI 10527948
genes like me logo Genes that share ontologies with ADAM10: view
genes like me logo Genes that share phenotypes with ADAM10: view

Human Phenotype Ontology for ADAM10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAM10 Gene

MGI Knock Outs for ADAM10:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ADAM10 Gene

Localization for ADAM10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAM10 Gene

Cell membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Note=Is localized in the plasma membrane but is predominantly expressed in the Golgi apparatus and in released membrane vesicles derived likely from the Golgi. {ECO:0000269 PubMed:12475894}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAM10 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
cytoskeleton 1
peroxisome 1
cytosol 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADAM10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus ISS,IEA --
GO:0005737 cytoplasm IEA,ISS --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with ADAM10: view

Pathways & Interactions for ADAM10 Gene

genes like me logo Genes that share pathways with ADAM10: view

Gene Ontology (GO) - Biological Process for ADAM10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development ISS,IEA --
GO:0006468 protein phosphorylation ISS,IEA --
GO:0006508 proteolysis IEA --
GO:0006509 membrane protein ectodomain proteolysis IEA,IMP 17965014
GO:0007162 negative regulation of cell adhesion NAS 8694785
genes like me logo Genes that share ontologies with ADAM10: view

No data available for SIGNOR curated interactions for ADAM10 Gene

Drugs & Compounds for ADAM10 Gene

(11) Drugs for ADAM10 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 41
Ethanol Approved Pharma 2326
XL784 Investigational Pharma Target 0
INCB7839 Investigational Pharma 0
GI 254023X Pharma Selective inhibitor of ADAM10 metalloprotease 0

(3) Additional Compounds for ADAM10 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ADAM10 Gene

Compound Action Cas Number
GI 254023X Selective inhibitor of ADAM10 metalloprotease 260264-93-5
genes like me logo Genes that share compounds with ADAM10: view

Drug Products

Transcripts for ADAM10 Gene

Unigene Clusters for ADAM10 Gene

ADAM metallopeptidase domain 10:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAM10 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - - -
SP2:
SP3:
SP4: - - - - - - - - - - - - - - - - - - - -
SP5:
SP6:
SP7: - - - - - - - - - - - - - - - - - - - - - -

ExUns: 21a · 21b · 21c · 21d · 21e
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7: -

Relevant External Links for ADAM10 Gene

GeneLoc Exon Structure for
ADAM10
ECgene alternative splicing isoforms for
ADAM10

Expression for ADAM10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAM10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADAM10 Gene

This gene is overexpressed in Nasal epithelium (18.7), Peripheral blood mononuclear cells (9.8), and Platelet (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADAM10 Gene



NURSA nuclear receptor signaling pathways regulating expression of ADAM10 Gene:

ADAM10

SOURCE GeneReport for Unigene cluster for ADAM10 Gene:

Hs.578508

mRNA Expression by UniProt/SwissProt for ADAM10 Gene:

O14672-ADA10_HUMAN
Tissue specificity: Expressed in spleen, lymph node, thymus, peripheral blood leukocyte, bone marrow, cartilage, chondrocytes and fetal liver.

Evidence on tissue expression from TISSUES for ADAM10 Gene

  • Blood(4.6)
  • Liver(4.4)
  • Nervous system(4.2)
  • Kidney(2.6)
  • Heart(2.5)
  • Lung(2.4)
  • Muscle(2)
  • Skin(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with ADAM10: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAM10 Gene

Orthologs for ADAM10 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAM10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAM10 33 34
  • 99.87 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAM10 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADAM10 33 34
  • 93.89 (n)
dog
(Canis familiaris)
Mammalia ADAM10 33 34
  • 93.8 (n)
rat
(Rattus norvegicus)
Mammalia Adam10 33
  • 91.27 (n)
mouse
(Mus musculus)
Mammalia Adam10 33 16 34
  • 91.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADAM10 34
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAM10 34 33
  • 83.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAM10 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adam10 33
  • 75.71 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7065 33
zebrafish
(Danio rerio)
Actinopterygii adam10b 34
  • 72 (a)
OneToMany
adam10a 33 34
  • 70.92 (n)
zgc64203 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003070 33
  • 49.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1964 35
  • 49 (a)
kuz 34 35
  • 25 (a)
OneToMany
Kul 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sup-17 35 34
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
Species where no ortholog for ADAM10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADAM10 Gene

ENSEMBL:
Gene Tree for ADAM10 (if available)
TreeFam:
Gene Tree for ADAM10 (if available)

Paralogs for ADAM10 Gene

Paralogs for ADAM10 Gene

Pseudogenes.org Pseudogenes for ADAM10 Gene

genes like me logo Genes that share paralogs with ADAM10: view

Variants for ADAM10 Gene

Sequence variations from dbSNP and Humsavar for ADAM10 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs145518263 risk-factor, Alzheimer disease 18, Alzheimer disease 18 (AD18) [MIM:615590] 58,665,141(-) T/C coding_sequence_variant, missense_variant
rs267604273 A cutaneous metastatic melanoma sample 58,665,156(-) G/A coding_sequence_variant, missense_variant
rs483352912 pathogenic, Reticulate acropigmentation of Kitamura, Reticulate acropigmentation of Kitamura (RAK) [MIM:615537] 58,679,193(-) G/A coding_sequence_variant, missense_variant
rs483352913 pathogenic, Reticulate acropigmentation of Kitamura 58,621,471(-) C/T coding_sequence_variant, missense_variant
rs483352914 pathogenic, Reticulate acropigmentation of Kitamura 58,679,179(-) A/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for ADAM10 Gene

Variant ID Type Subtype PubMed ID
dgv146e215 CNV deletion 23714750
esv1010091 CNV deletion 20482838
esv1712574 CNV deletion 17803354
esv2129733 CNV deletion 18987734
esv2561717 CNV deletion 19546169
esv2675977 CNV deletion 23128226
esv2749743 CNV deletion 23290073
esv34110 CNV loss 18971310
esv3552517 CNV deletion 23714750
esv4784 CNV loss 18987735
esv5828 CNV loss 19470904
nsv1116076 CNV deletion 24896259
nsv1127436 CNV deletion 24896259
nsv1148710 CNV deletion 26484159
nsv1551 CNV deletion 18451855
nsv518097 CNV loss 19592680
nsv569602 CNV loss 21841781
nsv7266 OTHER inversion 18451855
nsv974583 CNV duplication 23825009

Variation tolerance for ADAM10 Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAM10 Gene

Human Gene Mutation Database (HGMD)
ADAM10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAM10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAM10 Gene

Disorders for ADAM10 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ADAM10 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ADA10_HUMAN
  • Alzheimer disease 18 (AD18) [MIM:615590]: A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269 PubMed:19608551, ECO:0000269 PubMed:24055016}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Reticulate acropigmentation of Kitamura (RAK) [MIM:615537]: A rare cutaneous pigmentation disorder characterized by reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet and appearing in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities. The manifestations tend to progress until middle age, after which progression of the eruptions stops. The pigmentary augmentation is found on the flexor aspects of the wrists, neck, patella and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, occasionally plantar keratoderma, and partial alopecia. {ECO:0000269 PubMed:23666529}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADAM10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADAM10: view

No data available for Genatlas for ADAM10 Gene

Publications for ADAM10 Gene

  1. Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity. (PMID: 19608551) Kim M … Tanzi RE (Human molecular genetics 2009) 3 4 22 58
  2. Adam meets Eph: an ADAM substrate recognition module acts as a molecular switch for ephrin cleavage in trans. (PMID: 16239146) Janes PW … Nikolov DB (Cell 2005) 3 4 22 58
  3. Variation at the ADAM10 gene locus is not associated with Creutzfeldt-Jakob disease. (PMID: 12782344) Plamont MA … Laplanche JL (Neuroscience letters 2003) 3 22 44 58
  4. Platelet-activating factor receptor and ADAM10 mediate responses to Staphylococcus aureus in epithelial cells. (PMID: 11786905) Lemjabbar H … Basbaum C (Nature medicine 2002) 3 4 22 58
  5. ADAM-10 protein is present in human articular cartilage primarily in the membrane-bound form and is upregulated in osteoarthritis and in response to IL-1alpha in bovine nasal cartilage. (PMID: 11511685) Chubinskaya S … Tindal MH (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2001) 3 4 22 58

Products for ADAM10 Gene

Sources for ADAM10 Gene

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