Aliases for GDAP2 Gene

Aliases for GDAP2 Gene

  • Ganglioside Induced Differentiation Associated Protein 2 2 3 5
  • Ganglioside-Induced Differentiation-Associated Protein 2 3 4
  • MACROD3 3
  • SCAR27 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. Diseases associated with GDAP2 include Spinocerebellar Ataxia, Autosomal Recessive 27. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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 CraniofacialAtlas 769.8 -0.3 -322 4.4 SP1 ZBTB40 SIX5 SMARCE1 POLR2A ATF1 CREB1 HCFC1 MYC NFYC GDAP2 WDR3 NONHSAG002563.2
GH01J117604 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.1 +322.1 322066 5.6 ZBTB40 GATA3 SMARCE1 POLR2A ZNF217 MYC CC2D1A NFYC HLF L3MBTL2 TENT5C LOC100996263 piR-56716 ENSG00000271427 WDR3 GDAP2 ENSG00000212266
GH01J117362 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas 12.8 +562.5 562482 10 PPP1R10 SP1 ZBTB40 ZBTB6 FOXA1 SMARCE1 POLR2A NR2F6 MYC NFYC MAN1A2 ENSG00000271427 NONHSAG002551.2 ATP1A1-AS1 GDAP2 WDR3 LINC01525
GH01J117651 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 20.6 +275.1 275080 6 SP1 SREBF1 SMARCE1 ZNF217 ETV6 RELA L3MBTL2 MNT TEAD4 NFIB lnc-GDAP2-9 GDAP2 WDR3 TENT5C MAN1A2 VDAC2P3
GH01J117058 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 14.1 +869.1 869057 4.4 SIN3A ZNF24 SP1 ZBTB6 SMARCE1 POLR2A HDAC2 FOS CREB1 JUND TTF2 LOC101929099 WDR3 GDAP2 MAN1A2 ATP1A1-AS1 CD101
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GDAP2 on UCSC Golden Path with GeneCards custom track

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

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 Lys217, Lys313, and Lys338
  • Modification sites at PhosphoSitePlus

Other Protein References for GDAP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GDAP2 Gene

Domains & Families for GDAP2 Gene

Gene Families for GDAP2 Gene

Protein Domains for GDAP2 Gene

Suggested Antigen Peptide Sequences for GDAP2 Gene

GenScript: Design optimal peptide antigens:
  • Ganglioside-induced differentiation-associated protein 2 (GDAP2_HUMAN)

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

CRISPR 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
endoplasmic reticulum 2
extracellular 1
nucleus 1
cytosol 1
mitochondrion 0
golgi apparatus 0

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

PathCards logo

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

mRNA/cDNA for GDAP2 Gene

CRISPR Products

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 33 32
  • 98.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GDAP2 33 32
  • 93.57 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GDAP2 33
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GDAP2 33 32
  • 91.5 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GDAP2 33
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gdap2 32
  • 89.42 (n)
mouse
(Mus musculus)
Mammalia Gdap2 17 33 32
  • 88.66 (n)
chicken
(Gallus gallus)
Aves GDAP2 33 32
  • 76.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GDAP2 33
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdap2 32
  • 68.82 (n)
Str.11983 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.25746 32
zebrafish
(Danio rerio)
Actinopterygii gdap2 33 32
  • 67.62 (n)
OneToOne
Dr.4418 32
fruit fly
(Drosophila melanogaster)
Insecta CG18812 33 34 32
  • 50.61 (n)
OneToOne
CG18813 34
  • 42 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005091 32
  • 49.65 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G69340 32
  • 46.92 (n)
rice
(Oryza sativa)
Liliopsida Os10g0444400 32
  • 47.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 49 (a)
OneToMany
-- 33
  • 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
rs1557794465 pathogenic, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 117,878,150(-) C/CC coding_sequence_variant, frameshift
rs547792505 pathogenic, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 117,883,537(-) /C coding_sequence_variant, frameshift
rs752352896 pathogenic, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 117,896,840(-) G/A coding_sequence_variant, stop_gained
rs1000108078 -- 117,890,458(-) A/G/T intron_variant
rs1000207536 -- 117,923,978(-) T/C intron_variant

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

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

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

MalaCards: The human disease database

(1) MalaCards diseases for GDAP2 Gene - From: OMIM, ClinVar, GTR, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 27
  • scar27
- elite association - COSMIC cancer census association via MalaCards
Search GDAP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GDAP2

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 GDAP2: view

No data available for 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 43 56
  2. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. 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 56
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 56

Products for GDAP2 Gene

Sources for GDAP2 Gene