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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 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. An important paralog of this gene is MAMDC2.

UniProtKB/Swiss-Prot for MDGA2 Gene

  • May be involved in cell-cell interactions.

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

Genomics for MDGA2 Gene

Regulatory Elements for MDGA2 Gene

Enhancers for MDGA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MDGA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MDGA2 Gene

Chromosome:
14
Start:
46,839,623 bp from pter
End:
47,675,334 bp from pter
Size:
835,712 bases
Orientation:
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:
    Q7Z553-MDGA2_HUMAN
    Recommended name:
    MAM domain-containing glycosylphosphatidylinositol anchor protein 2
    Protein Accession:
    Q7Z553
    Secondary Accessions:
    • F6W3S7
    • J3KPX6

    Protein attributes for MDGA2 Gene

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

    Alternative splice isoforms for MDGA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MDGA2 Gene

Proteomics data for MDGA2 Gene at MOPED

Post-translational modifications for MDGA2 Gene

  • Glycosylation at Asn 92, Asn 213, Asn 237, Asn 434, Asn 443, Asn 504, Asn 610, and Asn 703
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MDGA2

No data available for DME Specific Peptides for MDGA2 Gene

Domains & Families for MDGA2 Gene

Suggested Antigen Peptide Sequences for MDGA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z553

UniProtKB/Swiss-Prot:

MDGA2_HUMAN :
  • Contains 1 fibronectin type-III domain.
Domain:
  • Contains 1 fibronectin type-III domain.
  • Contains 6 Ig-like (immunoglobulin-like) domains.
  • Contains 1 MAM domain.
genes like me logo Genes that share domains with MDGA2: view

Function for MDGA2 Gene

Molecular function for MDGA2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in cell-cell interactions.
genes like me logo Genes that share phenotypes with MDGA2: view

Animal Model 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

COMPARTMENTS
Jensen Localization Image for MDGA2 Gene COMPARTMENTS Subcellular localization image for MDGA2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for MDGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MDGA2: view

Pathways & Interactions for MDGA2 Gene

SuperPathways for MDGA2 Gene

No Data Available

Interacting Proteins for MDGA2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000382178%0d%0a9606.ENSP00000354090%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000382178 for MDGA2 Gene via STRING

Gene Ontology (GO) - Biological Process for MDGA2 Gene

None

No data available for Pathways by source and 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 46
Milnacipran Approved Pharma 59
Paroxetine Approved, Investigational Pharma Inhibition, Inhibitor 221
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:

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

No ASD Table

Relevant External Links for MDGA2 Gene

GeneLoc Exon Structure for
MDGA2
ECgene alternative splicing isoforms for
MDGA2

Expression for MDGA2 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for MDGA2 Gene Hs.436380

mRNA Expression by UniProt/SwissProt for MDGA2 Gene

Q7Z553-MDGA2_HUMAN
Tissue specificity: Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level).
genes like me logo Genes that share expression patterns with MDGA2: view

Protein tissue co-expression partners for MDGA2 Gene

- Elite partner

Primer Products

Orthologs for MDGA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MDGA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MDGA2 35
  • 94.84 (n)
  • 99.06 (a)
-- 36
  • 77 (a)
OneToMany
dog
(Canis familiaris)
Mammalia MDGA2 35
  • 94.87 (n)
  • 99.27 (a)
-- 36
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Mdga2 35
  • 91.35 (n)
  • 98.74 (a)
Mdga2 16
Mdga2 36
  • 75 (a)
ManyToMany
MDGA2 36
  • 70 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia MDGA2 35
  • 99.9 (n)
  • 99.79 (a)
-- 36
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mdga2 35
  • 90.94 (n)
  • 98.63 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves MDGA2 35
  • 78.97 (n)
  • 92.49 (a)
-- 36
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mdga2 35
  • 76.78 (n)
  • 82.71 (a)
zebrafish
(Danio rerio)
Actinopterygii mamdc1 35
  • 69.49 (n)
  • 76.75 (a)
CABZ01072410.1 36
  • 40 (a)
ManyToMany
CABZ01085192.1 36
  • 55 (a)
ManyToMany
CABZ01092925.1 36
  • 75 (a)
ManyToMany
CR293515.1 36
  • 16 (a)
ManyToMany
CU633981.1 36
  • 7 (a)
ManyToMany
CU633981.2 36
  • 9 (a)
ManyToMany
mamdc1 36
  • 56 (a)
ManyToMany
wu:fb63a08 36
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 26 (a)
OneToMany
Species with no ortholog for MDGA2:
  • 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

ENSEMBL:
Gene Tree for MDGA2 (if available)
TreeFam:
Gene Tree for MDGA2 (if available)

Paralogs for MDGA2 Gene

Paralogs for MDGA2 Gene

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

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 Sequence Context AA Info Type
rs12590500 - 46,957,434(+) ATAAA(A/C)CCCAT intron-variant, downstream-variant-500B, reference, missense
rs17123 -- 47,262,579(-) AATTC(A/G)TGGAG intron-variant
rs1305334 -- 47,623,245(-) ctggc(A/G)tctag intron-variant
rs1305335 -- 47,623,124(-) ccttc(A/G)ataac intron-variant
rs1388565 -- 46,872,863(+) GTTGT(C/G)CATCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv517764 CNV Loss 19592680
nsv901873 CNV Loss 21882294
nsv901874 CNV Loss 21882294
nsv817632 CNV Loss 17921354
nsv456294 CNV Loss 19166990
nsv832788 CNV Gain 17160897
dgv1922n71 CNV Loss 21882294
dgv1923n71 CNV Loss 21882294
dgv255n27 CNV Loss 19166990
nsv901882 CNV Loss 21882294
dgv1924n71 CNV Loss 21882294
esv2748688 CNV Deletion 23290073
nsv901885 CNV Loss 21882294
esv9641 CNV Loss 19470904
esv2748689 CNV Deletion 23290073
esv267565 CNV Insertion 20981092
nsv456299 CNV Loss 19166990
nsv456300 CNV Loss 19166990
nsv901886 CNV Loss 21882294
nsv507746 CNV Insertion 20534489
dgv1925n71 CNV Loss 21882294
nsv456301 CNV Loss 19166990
dgv1926n71 CNV Loss 21882294
dgv1927n71 CNV Loss 21882294
nsv515585 CNV Gain+Loss 19592680
nsv456302 CNV Loss 19166990
esv2677746 CNV Deletion 23128226
nsv517616 CNV Loss 19592680
esv2678726 CNV Deletion 23128226
esv27946 CNV Loss 19812545
nsv456303 CNV Loss 19166990
nsv517301 CNV Loss 19592680
nsv510378 CNV Loss 20534489
nsv525101 CNV Loss 19592680
nsv1266 CNV Insertion 18451855
nsv826944 CNV Loss 20364138
esv2748690 CNV Deletion 23290073
esv274608 CNV Insertion 20981092
esv271732 CNV Insertion 20981092
esv1685716 CNV Insertion 17803354
esv2669315 CNV Deletion 23128226
nsv901894 CNV Loss 21882294
esv2601245 CNV Insertion 19546169
esv269991 CNV Insertion 20981092
esv269528 CNV Insertion 20981092

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for MDGA2 Gene

Disorders for MDGA2 Gene

Relevant External Links for MDGA2

Genetic Association Database (GAD)
MDGA2
Human Genome Epidemiology (HuGE) Navigator
MDGA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MDGA2

No disorders were found for MDGA2 Gene.

No data available for MalaCards , 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 23 48 67
  2. Identification and characterization of two novel brain-derived immunoglobulin superfamily members with a unique structural organization. (PMID: 15019943) Litwack E.D. … O'Leary D.D. (Mol. Cell. Neurosci. 2004) 2 3
  3. 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. (Pharmacogenomics J. 2013) 3
  4. Interaction between autism-linked MDGAs and neuroligins suppresses inhibitory synapse development. (PMID: 23358245) Pettem K.L. … Craig A.M. (J. Cell Biol. 2013) 3
  5. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3

Products for MDGA2 Gene

Sources for MDGA2 Gene

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