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Aliases for MDGA2 Gene

Aliases for MDGA2 Gene

  • MAM Domain Containing Glycosylphosphatidylinositol Anchor 2 2 3 5
  • MAM Domain Containing 1 2 3
  • MAMDC1 3 4
  • MAM Domain-Containing Glycosylphosphatidylinositol Anchor Protein 2 3
  • MAM Domain-Containing Protein 1 4
  • C14_5286 3

External Ids for MDGA2 Gene

Previous HGNC Symbols for MDGA2 Gene

  • MAMDC1

Previous GeneCards Identifiers for MDGA2 Gene

  • GC14M046380
  • GC14M047309
  • GC14M027426

Summaries for MDGA2 Gene

GeneCards Summary for MDGA2 Gene

MDGA2 (MAM Domain Containing Glycosylphosphatidylinositol Anchor 2) is a Protein Coding gene. Diseases associated with MDGA2 include Benign Epilepsy With Centrotemporal Spikes. Among its related pathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. An important paralog of this gene is MDGA1.

UniProtKB/Swiss-Prot for MDGA2 Gene

  • May be involved in cell-cell interactions.

Additional gene information for MDGA2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MDGA2 Gene

Genomics for MDGA2 Gene

GeneHancer (GH) Regulatory Elements for MDGA2 Gene

Promoters and enhancers for MDGA2 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
GH14J047674 Promoter/Enhancer 1.1 EPDnew ENCODE 650.7 -0.3 -300 1.7 MXI1 CLOCK USF1 ZNF777 L3MBTL2 SUZ12 ZSCAN4 FOXM1 POLR2A CTBP2 MDGA2 GC14P047693
GH14J047675 Enhancer 0.3 ENCODE 650.7 +1.0 1001 0.2 EZH2 MDGA2 GC14P047635
GH14J047560 Enhancer 0.3 FANTOM5 9.1 +114.3 114340 0.4 MDGA2 GC14P047591 GC14P047492
GH14J047640 Enhancer 0.2 FANTOM5 3.6 +34.6 34610 0.4 MDGA2 GC14P047635
GH14J047616 Enhancer 0.2 FANTOM5 1.7 +58.5 58454 0 MDGA2 GC14M047600 GC14P047635
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MDGA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MDGA2 gene promoter:
  • MAZR
  • Nkx2-5
  • MEF-2A
  • aMEF-2
  • CREB
  • deltaCREB
  • Brachyury
  • p53
  • Pax-4a
  • RFX1

Genomic Locations for MDGA2 Gene

Genomic Locations for MDGA2 Gene
835,712 bases
Minus strand
835,332 bases
Minus strand

Genomic View for MDGA2 Gene

Genes around MDGA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDGA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDGA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDGA2 Gene

Proteins for MDGA2 Gene

  • Protein details for MDGA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    MAM domain-containing glycosylphosphatidylinositol anchor protein 2
    Protein Accession:
    Secondary Accessions:
    • F6W3S7
    • J3KPX6

    Protein attributes for MDGA2 Gene

    956 amino acids
    Molecular mass:
    107436 Da
    Quaternary structure:
    • Interacts (through the Ig-like domains) with NLGN2.
    • Sequence=AAP97010.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MDGA2 Gene


neXtProt entry for MDGA2 Gene

Post-translational modifications for MDGA2 Gene

  • Glycosylation at posLast=703703, posLast=610610, posLast=504504, isoforms=2, 3443, isoforms=2, 3434, isoforms=2, 3237, isoforms=3213, and posLast=9292
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MDGA2 Gene

Domains & Families for MDGA2 Gene

Gene Families for MDGA2 Gene

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

Suggested Antigen Peptide Sequences for MDGA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MDGA2: view

No data available for UniProtKB/Swiss-Prot for MDGA2 Gene

Function for MDGA2 Gene

Molecular function for MDGA2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in cell-cell interactions.

Phenotypes From GWAS Catalog for MDGA2 Gene

genes like me logo Genes that share phenotypes with MDGA2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MDGA2 Gene

Localization for MDGA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MDGA2 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

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 MDGA2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MDGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with MDGA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MDGA2 Gene

Pathways & Interactions for MDGA2 Gene

genes like me logo Genes that share pathways with MDGA2: view

Interacting Proteins for MDGA2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q7Z553-MDGA2_HUMAN ENSP00000382178 for MDGA2 Gene via IID STRING

Gene Ontology (GO) - Biological Process for MDGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006501 C-terminal protein lipidation TAS --
GO:0021522 spinal cord motor neuron differentiation ISS 15019943
genes like me logo Genes that share ontologies with MDGA2: view

No data available for SIGNOR curated interactions for MDGA2 Gene

Drugs & Compounds for MDGA2 Gene

(3) Drugs for MDGA2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluvoxamine Approved, Investigational Pharma 53
Milnacipran Approved, Investigational Pharma 60
Paroxetine Approved, Investigational Pharma Inhibition, Inhibitor 236
genes like me logo Genes that share compounds with MDGA2: view

Transcripts for MDGA2 Gene

Unigene Clusters for MDGA2 Gene

MAM domain containing glycosylphosphatidylinositol anchor 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MDGA2 Gene

No ASD Table

Relevant External Links for MDGA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MDGA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MDGA2 Gene

mRNA differential expression in normal tissues according to GTEx for MDGA2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.9), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Frontal Cortex (BA9) (x5.3), Brain - Cortex (x4.7), Brain - Hypothalamus (x4.6), and Testis (x4.0).

Protein differential expression in normal tissues from HIPED for MDGA2 Gene

This gene is overexpressed in Liver, secretome (43.1), Fetal Brain (14.7), and Retina (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MDGA2 Gene

Protein tissue co-expression partners for MDGA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MDGA2 Gene:


SOURCE GeneReport for Unigene cluster for MDGA2 Gene:


mRNA Expression by UniProt/SwissProt for MDGA2 Gene:

Tissue specificity: Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level).

Evidence on tissue expression from TISSUES for MDGA2 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with MDGA2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MDGA2 Gene

Orthologs for MDGA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MDGA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MDGA2 33
  • 99.9 (n)
-- 34
  • 71 (a)
(Canis familiaris)
Mammalia MDGA2 33
  • 94.87 (n)
-- 34
  • 76 (a)
(Bos Taurus)
Mammalia MDGA2 33
  • 94.84 (n)
-- 34
  • 77 (a)
(Mus musculus)
Mammalia Mdga2 16 34 33
  • 91.35 (n)
MDGA2 34
  • 70 (a)
(Rattus norvegicus)
Mammalia Mdga2 33
  • 90.94 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 72 (a)
(Gallus gallus)
Aves MDGA2 33
  • 78.97 (n)
-- 34
  • 66 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mdga2 33
  • 76.78 (n)
(Danio rerio)
Actinopterygii CABZ01092925.1 34
  • 75 (a)
mamdc1 34 33 33
  • 69.49 (n)
CABZ01085192.1 34
  • 55 (a)
CABZ01072410.1 34
  • 40 (a)
CR293515.1 34
  • 16 (a)
wu:fb63a08 34
  • 13 (a)
CU633981.2 34
  • 9 (a)
CU633981.1 34
  • 7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
Species where no ortholog for MDGA2 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for MDGA2 Gene

Gene Tree for MDGA2 (if available)
Gene Tree for MDGA2 (if available)
Evolutionary constrained regions (ECRs) for MDGA2: view image

Paralogs for MDGA2 Gene

Paralogs for MDGA2 Gene

(4) SIMAP similar genes for MDGA2 Gene using alignment to 6 proteins:

  • F8WE89_HUMAN
  • G3V5U0_HUMAN
  • G3V5Z1_HUMAN
  • H0YJ52_HUMAN
genes like me logo Genes that share paralogs with MDGA2: view

Variants for MDGA2 Gene

Sequence variations from dbSNP and Humsavar for MDGA2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000010745 -- 46,866,629(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000014846 -- 47,399,766(-) AAAAAAA/AAAAAAAA genic_upstream_transcript_variant, intron_variant
rs1000015536 -- 47,417,935(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000016283 -- 47,127,534(-) G/T intron_variant
rs1000018385 -- 47,406,676(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MDGA2 Gene

Variant ID Type Subtype PubMed ID
dgv1078n106 CNV deletion 24896259
dgv1913n100 CNV loss 25217958
dgv255n27 CNV loss 19166990
dgv3700n54 CNV loss 21841781
dgv3701n54 CNV loss 21841781
dgv3702n54 CNV loss 21841781
dgv3703n54 CNV loss 21841781
dgv3704n54 CNV loss 21841781
dgv3705n54 CNV loss 21841781
dgv3706n54 CNV loss 21841781
dgv3707n54 CNV loss 21841781
dgv3708n54 CNV loss 21841781
dgv400e214 CNV loss 21293372
dgv631e212 CNV loss 25503493
dgv632e212 CNV loss 25503493
dgv633e212 CNV loss 25503493
dgv634e212 CNV loss 25503493
dgv635e212 CNV loss 25503493
esv1685716 CNV insertion 17803354
esv2601245 CNV insertion 19546169
esv2669315 CNV deletion 23128226
esv2677746 CNV deletion 23128226
esv2678726 CNV deletion 23128226
esv2748688 CNV deletion 23290073
esv2748689 CNV deletion 23290073
esv2748690 CNV deletion 23290073
esv2761399 CNV loss 21179565
esv27946 CNV loss 19812545
esv3303285 CNV mobile element insertion 20981092
esv3305250 CNV mobile element insertion 20981092
esv3305714 CNV mobile element insertion 20981092
esv3321828 CNV insertion 20981092
esv3340957 CNV insertion 20981092
esv3356158 CNV insertion 20981092
esv3358816 CNV insertion 20981092
esv3369509 CNV insertion 20981092
esv3389532 CNV insertion 20981092
esv3396231 CNV insertion 20981092
esv3408586 CNV insertion 20981092
esv3430832 CNV insertion 20981092
esv3551503 CNV deletion 23714750
esv3551508 CNV deletion 23714750
esv3551509 CNV deletion 23714750
esv3581169 CNV loss 25503493
esv3581170 CNV loss 25503493
esv3581171 CNV loss 25503493
esv3581184 CNV loss 25503493
esv3581185 CNV loss 25503493
esv3581186 CNV loss 25503493
esv3634398 CNV loss 21293372
esv3634402 CNV loss 21293372
esv3634405 CNV loss 21293372
esv3634406 CNV loss 21293372
esv3634407 CNV loss 21293372
esv3634410 CNV loss 21293372
esv3634412 CNV loss 21293372
esv3892535 CNV loss 25118596
esv3892536 CNV gain 25118596
esv3892538 CNV gain 25118596
esv9641 CNV loss 19470904
nsv1035487 CNV gain 25217958
nsv1038382 CNV loss 25217958
nsv1042011 CNV loss 25217958
nsv1046326 CNV loss 25217958
nsv1053846 CNV gain 25217958
nsv1070636 CNV deletion 25765185
nsv1138298 CNV deletion 24896259
nsv1160191 CNV deletion 26073780
nsv1266 CNV insertion 18451855
nsv456294 CNV loss 19166990
nsv456299 CNV loss 19166990
nsv456300 CNV loss 19166990
nsv456301 CNV loss 19166990
nsv456302 CNV loss 19166990
nsv456303 CNV loss 19166990
nsv507746 OTHER sequence alteration 20534489
nsv510378 OTHER sequence alteration 20534489
nsv515585 CNV gain+loss 19592680
nsv517301 CNV loss 19592680
nsv517616 CNV loss 19592680
nsv517764 CNV loss 19592680
nsv525101 CNV loss 19592680
nsv564754 CNV gain 21841781
nsv564757 CNV loss 21841781
nsv564762 CNV loss 21841781
nsv564763 CNV loss 21841781
nsv564764 CNV loss 21841781
nsv564771 CNV loss 21841781
nsv564772 CNV loss 21841781
nsv564773 CNV loss 21841781
nsv564774 CNV loss 21841781
nsv564775 CNV loss 21841781
nsv564781 CNV loss 21841781
nsv564793 CNV loss 21841781
nsv817632 CNV loss 17921354
nsv826944 CNV loss 20364138
nsv832788 CNV gain 17160897
nsv974473 CNV duplication 23825009
nsv977463 CNV duplication 23825009

Variation tolerance for MDGA2 Gene

Residual Variation Intolerance Score: 20.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.71; 86.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MDGA2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDGA2 Gene

Disorders for MDGA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MDGA2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
benign epilepsy with centrotemporal spikes
  • bcects
- elite association - COSMIC cancer census association via MalaCards
Search MDGA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MDGA2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MDGA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MDGA2 Gene

Publications for MDGA2 Gene

  1. Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE). (PMID: 19997561) Hellquist A … Kere J (PloS one 2009) 3 4 22 44 58
  2. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J … Platt A (The pharmacogenomics journal 2013) 3 44 58
  3. Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression. (PMID: 22445761) Kurose K … Saito Y (Psychiatry research 2012) 3 44 58
  4. 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
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for MDGA2 Gene

  • Biorbyt antibodies for MDGA2

Sources for MDGA2 Gene

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