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 i... See more...

Aliases for ADAM30 Gene

Aliases for ADAM30 Gene

  • ADAM Metallopeptidase Domain 30 2 3 5
  • Disintegrin And Metalloproteinase Domain-Containing Protein 30 3 4
  • A Disintegrin And Metalloproteinase Domain 30 2 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. Diseases associated with ADAM30 include Inflammatory Bowel Disease 13. Among its related pathways are Fertilization. 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 Summary 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 , Rfam classification 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
GH01J119894 Enhancer 0.4 Ensembl 500.7 +1.8 1823 1 FOXA2 HNF4A ELF3 ADAM30 NOTCH2 NOTCH2P1 lnc-PHGDH-3 lnc-ADAM30-1
GH01J119711 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.1 +183.2 183174 4.1 POLR2G GTF2E2 PHF8 ZNF639 REST ZBTB10 POLR2A ZBTB26 TARDBP SAP30 PHGDH LOC105378937 ADAM30 WARS2-AS1 ZNF697 LOC105378936
GH01J119765 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.4 +128.7 128717 4.5 EP300 NCOR1 KDM6A TCF7 FOXA1 ZNF662 SKI TEAD1 ZBTB26 TBX3 HMGCS2 HSD3BP5 WARS2-AS1 ADAM30 REG4 ZNF697 lnc-HMGCS2-1
GH01J119985 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 -94.9 -94893 12 ZNF217 ZSCAN5C JUND FOS ZNF10 ZIC2 ZNF423 KLF7 ZNF830 CTBP1 lnc-ADAM30-1 piR-37475-001 piR-38380-001 piR-47635-001 NOTCH2 ADAM30 ZNF697 piR-39259-001 piR-47741-001
GH01J119967 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.7 -71.6 -71577 1.8 ZNF217 CTCF RFX1 REST CTBP1 RAD21 TRIM22 SMC3 FOXA2 ESRRA ADAM30 NOTCH2 lnc-ADAM30-1 piR-37475-001 piR-34822-017
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAM30 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAM30

Top Transcription factor binding sites by QIAGEN in the ADAM30 gene promoter:
  • AML1a
  • C/EBPalpha
  • COMP1
  • HNF-4alpha1
  • HOXA5
  • Pax-2
  • Pax-2a
  • Pax-3
  • TGIF

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)
Size:
2,992 bases
Orientation:
Minus strand

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, Asn372, Asn438, 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

Protein Domains for ADAM30 Gene

Suggested Antigen Peptide Sequences for ADAM30 Gene

GenScript: Design optimal peptide antigens:
  • Disintegrin and metalloproteinase domain-containing protein 30 (ADA30_HUMAN)
  • ADAM metallopeptidase domain 30 (Q8TBZ7_HUMAN)

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

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).
GENATLAS Biochemistry:
a disintegrin and metalloprotease domain 30,membrane anchored cell surface adhesion protein,testis specific with alternatively spliced isoforms

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

CRISPR Products

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
nucleus 1
lysosome 1
peroxisome 0
golgi apparatus 0

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

PathCards logo

SuperPathways for ADAM30 Gene

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

Pathways by source for ADAM30 Gene

3 Reactome pathways 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 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for ADAM30 Gene

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



Protein tissue co-expression partners for ADAM30 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC531521 30
  • 76.9 (n)
-- 31
  • 68 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC608067 30
  • 74.76 (n)
-- 31
  • 62 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Adam30 17 31 30
  • 68.53 (n)
rat
(Rattus norvegicus)
Mammalia Adam30 30
  • 67.78 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAM30 31
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 47 (a)
OneToMany
-- 31
  • 46 (a)
OneToMany
-- 31
  • 43 (a)
OneToMany
-- 31
  • 43 (a)
OneToMany
-- 31
  • 43 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 35 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
-- 31
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Neu3 31
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea adm-2 31
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
ManyToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ADAM30: view image

Paralogs for ADAM30 Gene

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

  • ADA30_HUMAN
  • Q8TBZ7_HUMAN
genes like me logo Genes that share paralogs with ADAM30: view

Variants for ADAM30 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAM30 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2641348 - p.Leu359Pro
rs35273427 - p.Thr737Ala

Additional dbSNP identifiers (rs#s) for ADAM30 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for ADAM30 Gene - From: DISEASES

Disorder Aliases PubMed IDs
inflammatory bowel disease 13
  • ibd13
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAM30

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 ADAM30: view

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

Publications for ADAM30 Gene

  1. Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs that show testis-specific gene expression. (PMID: 10512762) Cerretti DP … Nelson N (Biochemical and biophysical research communications 1999) 2 3 4 54
  2. ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's Disease. (PMID: 27333034) Letronne F … Lambert JC (EBioMedicine 2016) 3 4 54
  3. 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 41 54
  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 41 54
  5. 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 41 54

Products for ADAM30 Gene

Sources for ADAM30 Gene