ADAD2 Gene (Protein Coding)

Adenosine Deaminase Domain Containing 2

GC16P084191
GIFtS:
34
See more...

Aliases for ADAD2 Gene

Aliases for ADAD2 Gene

  • Adenosine Deaminase Domain Containing 2 2 3 5
  • TENRL 2 3 4
  • Adenosine Deaminase Domain-Containing Protein 2 3 4
  • Testis Nuclear RNA-Binding Protein-Like 4
  • FLJ00337 2
  • ADAD2 5

External Ids for ADAD2 Gene

Previous GeneCards Identifiers for ADAD2 Gene

  • GC16P082783
  • GC16P084224
  • GC16P069978

Summaries for ADAD2 Gene

GeneCards Summary for ADAD2 Gene

ADAD2 (Adenosine Deaminase Domain Containing 2) is a Protein Coding gene. Diseases associated with ADAD2 include Dyschromatosis Symmetrica Hereditaria. Gene Ontology (GO) annotations related to this gene include RNA binding and adenosine deaminase activity. An important paralog of this gene is ADAD1.

Additional gene information for ADAD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAD2 Gene

Genomics for ADAD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ADAD2 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
GH16J084191 Promoter 0.7 EPDnew 600.7 +0.0 49 0.1 SP1 ZBTB33 DDX20 PKNOX1 GABPA PBX2 MGA NFYB MBD2 GABPB1 ADAD2 piR-43106-089 LOC654780 KCNG4
GH16J084190 Enhancer 0.6 ENCODE 600.7 -0.1 -88 0.1 SP1 ZBTB33 DDX20 PKNOX1 GABPA PBX2 MGA EGR1 MBD2 NFYB ADAD2 piR-43106-089 TAF1C
GH16J084281 Enhancer 0.8 FANTOM5 ENCODE 43.6 +90.1 90123 0.2 SP1 DDX20 PKNOX1 PBX2 CEBPB SP2 MBD2 NFYA NFYB FOS ADAD2 DNAAF1 WFDC1 RNA5SP433 RF00001-139 KCNG4
GH16J084183 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.2 -5.5 -5497 4.1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 TFE3 NFKBIZ POLR2A RCOR2 BACH1 TAF1C lnc-KCNG4-3 lnc-KCNG4-4 LOC654780 ADAD2 HSDL1 DNAAF1
GH16J084043 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -147.3 -147337 2.4 CTCF LEF1 JUND PHF21A ZIC2 RXRB ZNF24 REST IRF2 DPF2 SLC38A8 TAF1C NECAB2 OSGIN1 ADAD2 DNAAF1 HSDL1 KCNG4 MBTPS1 ENSG00000285792
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAD2

Top Transcription factor binding sites by QIAGEN in the ADAD2 gene promoter:
  • AREB6
  • COMP1
  • GATA-2
  • MyoD
  • NF-1
  • NF-1/L
  • Olf-1
  • RORalpha1
  • STAT5B

Genomic Locations for ADAD2 Gene

Genomic Locations for ADAD2 Gene
chr16:84,191,138-84,197,168
(GRCh38/hg38)
Size:
6,031 bases
Orientation:
Plus strand
chr16:84,224,723-84,230,774
(GRCh37/hg19)
Size:
6,052 bases
Orientation:
Plus strand

Genomic View for ADAD2 Gene

Genes around ADAD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAD2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ADAD2 Gene

Proteins for ADAD2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ADAD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCV1-ADAD2_HUMAN
    Recommended name:
    Adenosine deaminase domain-containing protein 2
    Protein Accession:
    Q8NCV1
    Secondary Accessions:
    • B2RCL6
    • Q8NA94

    Protein attributes for ADAD2 Gene

    Size:
    583 amino acids
    Molecular mass:
    61755 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAD2 Gene

Protein Expression for ADAD2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ADAD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ADAD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ADAD2 Gene

Domains & Families for ADAD2 Gene

Gene Families for ADAD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ADAD2 Gene

InterPro:
Blocks:
  • Adenosine deaminase/editase
ProtoNet:

Suggested Antigen Peptide Sequences for ADAD2 Gene

GenScript: Design optimal peptide antigens:
  • Testis nuclear RNA-binding protein-like (ADAD2_HUMAN)
  • Testis nuclear RNA-binding protein-like, isoform CRA_c (D3DUL6_HUMAN)
  • FLJ00337 protein (Q6ZNJ3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NCV1

UniProtKB/Swiss-Prot:

ADAD2_HUMAN :
  • Belongs to the ADAD family.
Family:
  • Belongs to the ADAD family.
genes like me logo Genes that share domains with ADAD2: view

Function for ADAD2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for ADAD2 Gene

Gene Ontology (GO) - Molecular Function for ADAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003725 double-stranded RNA binding IBA 21873635
GO:0003726 double-stranded RNA adenosine deaminase activity IBA 21873635
GO:0004000 adenosine deaminase activity IEA --
GO:0008251 tRNA-specific adenosine deaminase activity IBA 21873635
genes like me logo Genes that share ontologies with ADAD2: view
genes like me logo Genes that share phenotypes with ADAD2: view

Animal Model Products

CRISPR Products

miRNA for ADAD2 Gene

miRTarBase miRNAs that target ADAD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAD2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAD2 Gene

Localization for ADAD2 Gene

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 ADAD2 gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ADAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005730 nucleolus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with ADAD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ADAD2 Gene

Pathways & Interactions for ADAD2 Gene

PathCards logo

SuperPathways for ADAD2 Gene

No Data Available

Interacting Proteins for ADAD2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 16)
STRING Interaction Network
Selected Interacting proteins: ENSP00000268624 Q8NCV1-ADAD2_HUMAN for ADAD2 Gene via STRING IID

GPS-Prot Interaction Network for ADAD2

Gene Ontology (GO) - Biological Process for ADAD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006382 adenosine to inosine editing IBA 21873635
GO:0006396 RNA processing IEA,IBA 21873635
genes like me logo Genes that share ontologies with ADAD2: view

No data available for Pathways by source and SIGNOR curated interactions for ADAD2 Gene

Drugs & Compounds for ADAD2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ADAD2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ADAD2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAD2

Alternative Splicing Database (ASD) splice patterns (SP) for ADAD2 Gene

No ASD Table

Relevant External Links for ADAD2 Gene

GeneLoc Exon Structure for
ADAD2

Expression for ADAD2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAD2 Gene

mRNA expression in normal human tissues for ADAD2 Gene
mRNA expression by GTEx for ADAD2 GenemRNA expression by BioGPS for ADAD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for ADAD2 Gene

This gene is overexpressed in Testis (x34.6).

Protein differential expression in normal tissues from HIPED for ADAD2 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAD2 Gene



Protein tissue co-expression partners for ADAD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAD2

SOURCE GeneReport for Unigene cluster for ADAD2 Gene:

Hs.8977

Evidence on tissue expression from TISSUES for ADAD2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ADAD2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAD2 Gene

Orthologs for ADAD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ADAD2 30 31
  • 98.68 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ADAD2 30 31
  • 81.08 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ADAD2 30 31
  • 80.3 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Adad2 30 17 31
  • 75.82 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Adad2 30
  • 75.03 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia ADAD2 31
  • 60 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ADAD2 31
  • 51 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ADAD2 31
  • 40 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia adad2 30
  • 44.56 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC558824 30
  • 51.87 (n)
ADAD2 31
  • 34 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea D2005.1 31
  • 23 (a)
 ManyToMany
adr-1 31
  • 11 (a)
 ManyToMany
Species where no ortholog for ADAD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 ADAD2 Gene

ENSEMBL:
Gene Tree for ADAD2 (if available)
TreeFam:
Gene Tree for ADAD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAD2: view image

Paralogs for ADAD2 Gene

Paralogs for ADAD2 Gene

(2) SIMAP similar genes for ADAD2 Gene using alignment to 2 proteins:

  • ADAD2_HUMAN
  • H3BNP6_HUMAN
genes like me logo Genes that share paralogs with ADAD2: view

Variants for ADAD2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAD2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs11149631 - p.Gly235Arg
rs8044695 - p.Gly44Glu

Additional dbSNP identifiers (rs#s) for ADAD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADAD2 Gene

Variant ID Type Subtype PubMed ID
esv2761930 CNV gain 21179565
esv3639412 CNV loss 21293372
esv3639413 CNV loss 21293372
esv3639414 CNV loss 21293372
nsv1059227 CNV loss 25217958
nsv1065790 CNV loss 25217958
nsv457597 CNV loss 19166990
nsv483044 CNV gain 15286789
nsv518342 CNV loss 19592680
nsv523437 CNV loss 19592680
nsv573424 CNV loss 21841781
nsv833309 CNV loss 17160897

Variation tolerance for ADAD2 Gene

Residual Variation Intolerance Score: 85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.87; 91.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAD2 Gene

Disorders for ADAD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADAD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dyschromatosis symmetrica hereditaria
  • dsh
- elite association - COSMIC cancer census association via MalaCards
Search ADAD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ADAD2

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ADAD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAD2 Gene

Publications for ADAD2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PMID: 22589738) Fox CS … Borecki IB (PLoS genetics 2012) 3
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3

ExternalLinks

View latest publications for ADAD2 gene in Mastermind

Products for ADAD2 Gene

Sources for ADAD2 Gene