Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ADAM30 Gene

Aliases for ADAM30 Gene

  • ADAM Metallopeptidase Domain 30 2 3 5
  • A Disintegrin And Metalloproteinase Domain 30 2 3
  • Disintegrin And Metalloproteinase Domain-Containing Protein 30 3
  • EC 3.4.24.- 4
  • ADAM 30 4
  • Svph4 3

External Ids for ADAM30 Gene

Previous GeneCards Identifiers for ADAM30 Gene

  • GC01M120882
  • GC01M119274
  • GC01M119583
  • GC01M119782
  • GC01M120148
  • GC01M120237
  • GC01M120436
  • GC01M118294

Summaries for ADAM30 Gene

Entrez Gene Summary for ADAM30 Gene

  • 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. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADAM30 Gene

ADAM30 (ADAM Metallopeptidase Domain 30) is a Protein Coding gene. Among its related pathways are Reproduction. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity and metallopeptidase activity. An important paralog of this gene is ADAM21.

UniProtKB/Swiss-Prot for ADAM30 Gene

  • Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation (PubMed:27333034).

Additional gene information for ADAM30 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAM30 Gene

Genomics for ADAM30 Gene

GeneHancer (GH) Regulatory Elements for ADAM30 Gene

Promoters and enhancers for ADAM30 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
GH01I119896 Promoter 0.7 EPDnew 550.8 +0.0 9 0.1 CTCF ZBTB33 ADAM30 NOTCH2 NOTCH2P1
GH01I119711 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.1 +183.4 183415 3.6 PKNOX1 SMAD1 SIN3A FEZF1 DMAP1 ZNF2 POLR2B ZNF766 ZNF213 KLF13 PHGDH LOC105378937 ADAM30 ZNF697 LOC105378936
GH01I119765 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.4 +128.7 128717 4.5 ELF3 FOXA2 NFIB ARID4B ZNF195 THRB RAD21 RARA YY1 SCRT2 HMGCS2 HSD3BP5 LOC101929147 ADAM30 REG4 ZNF697 GC01P119741 PIR35373
GH01I119985 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -90.8 -90828 3.8 JUN RAD21 RFX5 ZNF664 POLR2A RCOR1 FOSL2 FOS RUNX3 CEBPB NOTCH2 ADAM30 ZNF697 ENSG00000261662 GC01P119934
GH01I119782 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 +110.9 110853 6.9 PKNOX1 FOXA2 RAD21 RFX5 RARA YY1 ZNF766 ZNF366 FOS RXRA PHGDH WARS2 REG4 HMGCS2 ADAM30 LOC101929147
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAM30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAM30 gene promoter:

Genomic Locations for ADAM30 Gene

Genomic Locations for ADAM30 Gene
chr1:119,893,533-119,896,524
(GRCh38/hg38)
Size:
2,992 bases
Orientation:
Minus strand
chr1:120,436,156-120,439,147
(GRCh37/hg19)

Genomic View for ADAM30 Gene

Genes around ADAM30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAM30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAM30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAM30 Gene

Proteins for ADAM30 Gene

  • Protein details for ADAM30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKF2-ADA30_HUMAN
    Recommended name:
    Disintegrin and metalloproteinase domain-containing protein 30
    Protein Accession:
    Q9UKF2
    Secondary Accessions:
    • A8K8W8
    • Q5T3X6
    • Q9UKF1

    Protein attributes for ADAM30 Gene

    Size:
    790 amino acids
    Molecular mass:
    88940 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with CTSD; this leads to activation of CTSD.

    Alternative splice isoforms for ADAM30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAM30 Gene

Post-translational modifications for ADAM30 Gene

  • Glycosylation at Asn222, posLast=372372, posLast=438438, Asn473, and Asn625
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAM30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ADAM30 Gene

Domains & Families for ADAM30 Gene

Gene Families for ADAM30 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ADAM30 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKF2

UniProtKB/Swiss-Prot:

ADA30_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.
genes like me logo Genes that share domains with ADAM30: view

Function for ADAM30 Gene

Molecular function for ADAM30 Gene

GENATLAS Biochemistry:
a disintegrin and metalloprotease domain 30,membrane anchored cell surface adhesion protein,testis specific with alternatively spliced isoforms
UniProtKB/Swiss-Prot Function:
Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation (PubMed:27333034).

Enzyme Numbers (IUBMB) for ADAM30 Gene

Phenotypes From GWAS Catalog for ADAM30 Gene

Gene Ontology (GO) - Molecular Function for ADAM30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity TAS 10512762
GO:0008270 zinc ion binding TAS 10512762
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAM30: view
genes like me logo Genes that share phenotypes with ADAM30: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAM30

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ADAM30 Gene

Localization for ADAM30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAM30 Gene

Late endosome membrane; Single-pass type I membrane protein.

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 ADAM30 gene
Compartment Confidence
plasma membrane 5
endosome 3
extracellular 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ADAM30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with ADAM30: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAM30 Gene

Pathways & Interactions for ADAM30 Gene

SuperPathways for ADAM30 Gene

SuperPathway Contained pathways
1 Reproduction
genes like me logo Genes that share pathways with ADAM30: view

Pathways by source for ADAM30 Gene

3 Reactome pathways for ADAM30 Gene

Interacting Proteins for ADAM30 Gene

Gene Ontology (GO) - Biological Process for ADAM30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007339 binding of sperm to zona pellucida TAS --
genes like me logo Genes that share ontologies with ADAM30: view

No data available for SIGNOR curated interactions for ADAM30 Gene

Drugs & Compounds for ADAM30 Gene

No Compound Related Data Available

Transcripts for ADAM30 Gene

mRNA/cDNA for ADAM30 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ADAM30 Gene

ADAM metallopeptidase domain 30:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAM30 Gene

No ASD Table

Relevant External Links for ADAM30 Gene

GeneLoc Exon Structure for
ADAM30
ECgene alternative splicing isoforms for
ADAM30

Expression for ADAM30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAM30 Gene

mRNA differential expression in normal tissues according to GTEx for ADAM30 Gene

This gene is overexpressed in Testis (x52.4).

Protein differential expression in normal tissues from HIPED for ADAM30 Gene

This gene is overexpressed in Breast (44.5) and Lung (21.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAM30 Gene



Protein tissue co-expression partners for ADAM30 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAM30 Gene:

ADAM30

SOURCE GeneReport for Unigene cluster for ADAM30 Gene:

Hs.283011

mRNA Expression by UniProt/SwissProt for ADAM30 Gene:

Q9UKF2-ADA30_HUMAN
Tissue specificity: Expressed in brain neurons (at protein level) (PubMed:27333034). Expressed in testis (PubMed:10512762).
genes like me logo Genes that share expression patterns with ADAM30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAM30 Gene

Orthologs for ADAM30 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAM30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAM30 33 34
  • 99.4 (n)
cow
(Bos Taurus)
Mammalia LOC531521 33
  • 76.9 (n)
-- 34
  • 68 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC608067 33
  • 74.76 (n)
-- 34
  • 62 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Adam30 33 16 34
  • 68.53 (n)
rat
(Rattus norvegicus)
Mammalia Adam30 33
  • 67.78 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAM30 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 47 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 35 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Neu3 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea adm-2 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
Species where no ortholog for ADAM30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ADAM30 Gene

ENSEMBL:
Gene Tree for ADAM30 (if available)
TreeFam:
Gene Tree for ADAM30 (if available)

Paralogs for ADAM30 Gene

Paralogs for ADAM30 Gene

(11) SIMAP similar genes for ADAM30 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ADAM30: view

Variants for ADAM30 Gene

Sequence variations from dbSNP and Humsavar for ADAM30 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1001080821 -- 119,897,515(-) C/G upstream_transcript_variant
rs1001929737 -- 119,894,195(-) G/A coding_sequence_variant, synonymous_variant
rs1004323205 -- 119,893,466(-) T/C downstream_transcript_variant
rs1004906912 -- 119,895,450(-) T/C coding_sequence_variant, missense_variant
rs1005591450 -- 119,895,070(-) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAM30 Gene

Variant ID Type Subtype PubMed ID
nsv428201 CNV gain 18775914
nsv436325 CNV deletion 17901297
nsv524681 CNV gain 19592680
nsv547625 CNV loss 21841781
nsv831215 CNV gain 17160897
nsv831226 CNV gain+loss 17160897

Variation tolerance for ADAM30 Gene

Residual Variation Intolerance Score: 8.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAM30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAM30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAM30 Gene

Disorders for ADAM30 Gene

Additional Disease Information for ADAM30

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ADAM30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ADAM30 Gene

Publications for ADAM30 Gene

  1. ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease. (PMID: 27333034) Letronne F … Lambert JC (EBioMedicine 2016) 3 4 58
  2. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. (PMID: 19862325) Hu C … Jia W (PloS one 2009) 3 44 58
  3. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. (PMID: 18372903) Zeggini E … Altshuler D (Nature genetics 2008) 3 44 58
  4. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. (PMID: 18591388) Lango H … Weedon MN (Diabetes 2008) 3 44 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for ADAM30 Gene

Sources for ADAM30 Gene

Content
Loading form....