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Aliases for GDAP2 Gene

Aliases for GDAP2 Gene

  • Ganglioside Induced Differentiation Associated Protein 2 2 3 5
  • Ganglioside-Induced Differentiation-Associated Protein 2 3
  • MACROD3 3

External Ids for GDAP2 Gene

Previous GeneCards Identifiers for GDAP2 Gene

  • GC01M118870
  • GC01M117249
  • GC01M117559
  • GC01M117758
  • GC01M118124
  • GC01M118213
  • GC01M118406
  • GC01M116262

Summaries for GDAP2 Gene

GeneCards Summary for GDAP2 Gene

GDAP2 (Ganglioside Induced Differentiation Associated Protein 2) is a Protein Coding gene. An important paralog of this gene is MACROD2.

Additional gene information for GDAP2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDAP2 Gene

Genomics for GDAP2 Gene

GeneHancer (GH) Regulatory Elements for GDAP2 Gene

Promoters and enhancers for GDAP2 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
GH01J117928 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.1 -139 2.9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YBX1 YY1 POLR2B WDR3 GDAP2 GC01P117958
GH01J117604 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 25.5 +322.7 322694 4.4 PKNOX1 CLOCK SIN3A ZNF2 YY1 POLR2B ZNF213 FOS KLF13 SP3 LOC100996263 TENT5C PIR50715 GDAP2 ENSG00000271427 ENSG00000212266 WDR3
GH01J117058 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 26.6 +869.0 869016 4.4 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 TTF2 LOC101929099 WDR3 GDAP2 MAN1A2 ATP1A1-AS1 CD101 MIR942
GH01J117363 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 18.2 +561.9 561917 8.8 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 MAN1A2 GC01M117366 ATP1A1-AS1 GDAP2 ENSG00000271427 LINC01525 GC01P117421
GH01J117535 Enhancer 1.1 Ensembl ENCODE 25.7 +394.5 394475 0.4 HDGF PKNOX1 ARNT IRF4 E2F8 ARID2 ZNF143 FOS RUNX3 NCOA1 GDAP2 TENT5C LOC100996263 ENSG00000212266 GC01P117527 VPS25P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GDAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GDAP2 gene promoter:
  • GATA-1
  • HEN1
  • Roaz
  • AML1a
  • FOXD3
  • Pax-3
  • c-Myc
  • Max1
  • HNF-4alpha1

Genomic Locations for GDAP2 Gene

Genomic Locations for GDAP2 Gene
chr1:117,863,485-117,929,679
(GRCh38/hg38)
Size:
66,195 bases
Orientation:
Minus strand
chr1:118,406,107-118,472,302
(GRCh37/hg19)
Size:
66,196 bases
Orientation:
Minus strand

Genomic View for GDAP2 Gene

Genes around GDAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDAP2 Gene

Proteins for GDAP2 Gene

  • Protein details for GDAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXN4-GDAP2_HUMAN
    Recommended name:
    Ganglioside-induced differentiation-associated protein 2
    Protein Accession:
    Q9NXN4
    Secondary Accessions:
    • Q96DZ0

    Protein attributes for GDAP2 Gene

    Size:
    497 amino acids
    Molecular mass:
    56225 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GDAP2 Gene

    Alternative splice isoforms for GDAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GDAP2 Gene

Post-translational modifications for GDAP2 Gene

  • Ubiquitination at Lys338, Lys313, and Lys217
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GDAP2 Gene

Domains & Families for GDAP2 Gene

Gene Families for GDAP2 Gene

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

Protein Domains for GDAP2 Gene

Suggested Antigen Peptide Sequences for GDAP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NXN4

UniProtKB/Swiss-Prot:

GDAP2_HUMAN :
  • Belongs to the GDAP2 family.
Family:
  • Belongs to the GDAP2 family.
genes like me logo Genes that share domains with GDAP2: view

Function for GDAP2 Gene

Phenotypes From GWAS Catalog for GDAP2 Gene

Gene Ontology (GO) - Molecular Function for GDAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with GDAP2: view
genes like me logo Genes that share phenotypes with GDAP2: view

Animal Model Products

Clone Products

  • Addgene plasmids for GDAP2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GDAP2 Gene

Localization for GDAP2 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 GDAP2 gene
Compartment Confidence
lysosome 5
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GDAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane HDA 17897319
genes like me logo Genes that share ontologies with GDAP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GDAP2 Gene

Pathways & Interactions for GDAP2 Gene

SuperPathways for GDAP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GDAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032526 response to retinoic acid IEA --
genes like me logo Genes that share ontologies with GDAP2: view

No data available for Pathways by source and SIGNOR curated interactions for GDAP2 Gene

Drugs & Compounds for GDAP2 Gene

No Compound Related Data Available

Transcripts for GDAP2 Gene

Unigene Clusters for GDAP2 Gene

Ganglioside induced differentiation associated protein 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for GDAP2

Alternative Splicing Database (ASD) splice patterns (SP) for GDAP2 Gene

No ASD Table

Relevant External Links for GDAP2 Gene

GeneLoc Exon Structure for
GDAP2
ECgene alternative splicing isoforms for
GDAP2

Expression for GDAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GDAP2 Gene

Protein differential expression in normal tissues from HIPED for GDAP2 Gene

This gene is overexpressed in Breast (23.1), Peripheral blood mononuclear cells (8.0), and Testis (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GDAP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of GDAP2 Gene:

GDAP2

SOURCE GeneReport for Unigene cluster for GDAP2 Gene:

Hs.594430

Evidence on tissue expression from TISSUES for GDAP2 Gene

  • Intestine(4.3)
  • Liver(4.1)
  • Nervous system(3.6)
  • Lung(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with GDAP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GDAP2 Gene

Orthologs for GDAP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GDAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GDAP2 34 33
  • 98.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GDAP2 34 33
  • 93.57 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GDAP2 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GDAP2 34 33
  • 91.5 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GDAP2 34
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gdap2 33
  • 89.42 (n)
mouse
(Mus musculus)
Mammalia Gdap2 16 34 33
  • 88.66 (n)
chicken
(Gallus gallus)
Aves GDAP2 34 33
  • 76.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GDAP2 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdap2 33
  • 68.82 (n)
Str.11983 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25746 33
zebrafish
(Danio rerio)
Actinopterygii gdap2 34 33
  • 67.62 (n)
OneToOne
Dr.4418 33
fruit fly
(Drosophila melanogaster)
Insecta CG18812 34 35 33
  • 50.61 (n)
OneToOne
CG18813 35
  • 42 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005091 33
  • 49.65 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G69340 33
  • 46.92 (n)
rice
(Oryza sativa)
Liliopsida Os10g0444400 33
  • 47.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
-- 34
  • 29 (a)
OneToMany
Species where no ortholog for GDAP2 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDAP2 Gene

ENSEMBL:
Gene Tree for GDAP2 (if available)
TreeFam:
Gene Tree for GDAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GDAP2: view image

Paralogs for GDAP2 Gene

Paralogs for GDAP2 Gene

genes like me logo Genes that share paralogs with GDAP2: view

Variants for GDAP2 Gene

Sequence variations from dbSNP and Humsavar for GDAP2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000025714 -- 117,862,199(-) AAA/AA 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000108078 -- 117,890,458(-) A/G/T intron_variant
rs1000207536 -- 117,923,978(-) T/C intron_variant
rs1000210114 -- 117,915,094(-) T/A intron_variant
rs1000260060 -- 117,894,833(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GDAP2 Gene

Variant ID Type Subtype PubMed ID
nsv547611 CNV loss 21841781
nsv528470 CNV loss 19592680
esv34191 CNV loss 18971310
esv2716684 CNV deletion 23290073
esv2641236 CNV deletion 19546169

Variation tolerance for GDAP2 Gene

Residual Variation Intolerance Score: 15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GDAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDAP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDAP2 Gene

Disorders for GDAP2 Gene

Additional Disease Information for GDAP2

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

No disorders were found for GDAP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GDAP2 Gene

Publications for GDAP2 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for GDAP2 Gene

  • Addgene plasmids for GDAP2

Sources for GDAP2 Gene

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