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 2 3
  • DJ776P7.1 2
  • FLJ20142 2
  • SCAR27 3
  • GDAP2 5

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 and Hereditary Ataxia. An important paralog of this gene is MACROD2.

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 Pubs

Promoters and enhancers for GDAP2 Gene
GeneHancer (GH) Identifier GH Type GH
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 250.7 -0.4 -380 4.4 TBP SP1 MXD4 SIX5 NR2C1 MNT SMAD5 ETS1 MBD2 ZNF217 WDR3 GDAP2 NONHSAG002563.2 SPAG17
GH01J117604 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 14.1 +322.0 322008 5.6 ZSCAN16 TBP ZBTB10 MNT IKZF1 SMAD5 IRF2 MBD2 ZNF217 ZEB1 TENT5C LOC100996263 piR-56716 GDAP2 ENSG00000271427 ENSG00000212266 WDR3 MN308972
GH01J117362 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas 12.8 +562.4 562424 10 CHD2 TBP SP1 MXD4 FEZF1 CEBPA NR2C1 MNT DEK IKZF1 MAN1A2 ENSG00000271427 NONHSAG002551.2 GDAP2 ATP1A1-AS1 LINC01525 lnc-MAN1A2-2 MN308971 VTCN1
GH01J117058 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 14.1 +869.1 869099 4.6 ZSCAN16 TBP ZBTB10 SP1 BCL11A FEZF1 NR2C1 MNT SMAD5 ETS1 TTF2 LOC101929099 HSALNG0006363 WDR3 GDAP2 MAN1A2 ATP1A1-AS1 CD101 TRIM45
GH01J117588 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.8 +338.9 338934 4.2 ZNF217 MBD2 RXRA CTBP1 SIN3A FOXA2 ZBTB33 JUND CTCF SMARCE1 GDAP2 ENSG00000212266 TENT5C HSALNG0006391 MAN1A2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GDAP2

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

Latest Assembly
66,137 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
66,138 bases
Minus strand

(GRCh37/hg19 by Ensembl)
66,147 bases
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:
    Recommended name:
    Ganglioside-induced differentiation-associated protein 2
    Protein Accession:
    Secondary Accessions:
    • Q96DZ0

    Protein attributes for GDAP2 Gene

    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


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

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

  • Protein of unknown function Appr-1

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



  • Belongs to the GDAP2 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

Human Phenotype Ontology for GDAP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDAP2

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

Localization for GDAP2 Gene

Subcellular locations from

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 4
nucleus 2
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
cytosol 1
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

12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Expression for GDAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GDAP2

SOURCE GeneReport for Unigene cluster for GDAP2 Gene:


Evidence on tissue expression from TISSUES for GDAP2 Gene

  • Intestine(4.3)
  • Liver(4.1)
  • Nervous system(3.8)
  • 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
(Pan troglodytes)
Mammalia GDAP2 30 31
  • 98.58 (n)
(Canis familiaris)
Mammalia GDAP2 30 31
  • 93.57 (n)
(Monodelphis domestica)
Mammalia GDAP2 31
  • 92 (a)
(Bos Taurus)
Mammalia GDAP2 30 31
  • 91.5 (n)
(Ornithorhynchus anatinus)
Mammalia GDAP2 31
  • 91 (a)
(Rattus norvegicus)
Mammalia Gdap2 30
  • 89.42 (n)
(Mus musculus)
Mammalia Gdap2 30 17 31
  • 88.66 (n)
(Gallus gallus)
Aves GDAP2 30 31
  • 76.92 (n)
(Anolis carolinensis)
Reptilia GDAP2 31
  • 81 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gdap2 30
  • 68.82 (n)
Str.11983 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25746 30
(Danio rerio)
Actinopterygii gdap2 30 31
  • 67.62 (n)
Dr.4418 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG18812 30 31 32
  • 50.61 (n)
CG18813 32
  • 42 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005091 30
  • 49.65 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G69340 30
  • 46.92 (n)
(Oryza sativa)
Liliopsida Os10g0444400 30
  • 47.15 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 49 (a)
-- 31
  • 29 (a)
Species where no ortholog for GDAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

Gene Tree for GDAP2 (if available)
Gene Tree for GDAP2 (if available)
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDAP2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1557794465 Pathogenic: Spinocerebellar ataxia, autosomal recessive 27 117,878,149(-) A/AC
NM_017686.4(GDAP2):c.1305dup (p.Ser436fs)
rs547792505 Pathogenic: Spinocerebellar ataxia, autosomal recessive 27 117,883,536(-) T/TC
NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs)
rs752352896 Pathogenic: Spinocerebellar ataxia, autosomal recessive 27 117,896,840(-) G/A
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter)
rs12145577 - p.Gln312Pro
rs12752437 - p.Pro95Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GDAP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for GDAP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GDAP2 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 27
  • scar27
hereditary ataxia
  • ataxias hereditary
kabuki syndrome 1
  • kabuk1
- elite association - COSMIC cancer census association via MalaCards
Search GDAP2 in MalaCards View complete list of genes associated with diseases


  • Spinocerebellar ataxia, autosomal recessive, 27 (SCAR27) [MIM:618369]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR27 is a progressive disease characterized by gait difficulties, eye movement abnormalities, dysarthria, and difficulty writing. Some patients may lose independent ambulation. Additional features include spasticity of the lower limbs and cognitive impairment. {ECO:0000269 PubMed:30084953}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GDAP2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GDAP2: view

No data available for Genatlas for GDAP2 Gene

Publications for GDAP2 Gene

  1. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. (PMID: 30084953) Eidhof I … van de Warrenburg BP (Brain : a journal of neurology 2018) 4 74
  2. 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 41
  3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3
  4. 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
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for GDAP2 Gene

Sources for GDAP2 Gene