U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 [ Homo sapiens (human) ]

Gene ID: 161357, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
MDGA2provided by HGNC
Official Full Name
MAM domain containing glycosylphosphatidylinositol anchor 2provided by HGNC
Primary source
HGNC:HGNC:19835
See related
Ensembl:ENSG00000139915 MIM:611128; AllianceGenome:HGNC:19835
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MAMDC1; c14_5286
Summary
Predicted to be involved in regulation of presynapse assembly; regulation of synaptic membrane adhesion; and spinal cord motor neuron differentiation. Predicted to act upstream of or within neuron migration and pattern specification process. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 1.3) and testis (RPKM 0.6) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
14q21.3
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (46839623..47675605, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (41038514..41874449, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (47308826..48144808, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903309 Neighboring gene uncharacterized LOC105370480 Neighboring gene uncharacterized LOC105370481 Neighboring gene MPRA-validated peak2148 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr14:47215033-47215240 Neighboring gene ribosomal protein L10 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8308 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:47287501-47288032 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:47354646-47355845 Neighboring gene MPRA-validated peak2151 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:47572669-47573230 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:47573231-47573790 Neighboring gene replication protein A2 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:47577386-47578367 Neighboring gene MPRA-validated peak2152 silencer Neighboring gene ribosomal protein L13a pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5695 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:47769492-47770691 Neighboring gene NANOG hESC enhancer GRCh37_chr14:47858750-47859440 Neighboring gene ribosomal protein S15a pseudogene 3 Neighboring gene NANOG hESC enhancer GRCh37_chr14:48005441-48006008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:48034589-48035090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:48035091-48035590 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:48088147-48089346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:48145545-48146044 Neighboring gene kinesin family member 20B pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:48263841-48264342 Neighboring gene long intergenic non-protein coding RNA 648 Neighboring gene microRNA 548y

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Single-nucleotide polymorphisms of MAMDC1 are associated with rash and photosensitivity, but not disease risk, of systemic lupus erythematosus in Chinese mainland population. Wu Q, et al. Clin Rheumatol, 2011 Oct. PMID 21660437
  2. Rostral growth of commissural axons requires the cell adhesion molecule MDGA2. Joset P, et al. Neural Dev, 2011 May 4. PMID 21542908, Free PMC Article
  3. Evidence for associations between MDGA2 polymorphisms and harm avoidance: replication and extension of a genome-wide association finding. Heck A, et al. Psychiatr Genet, 2011 Oct. PMID 21399569
  4. Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE). Hellquist A, et al. PLoS One, 2009 Dec 7. PMID 19997561, Free PMC Article
  5. Follow-up association study of novel neuroticism gene MAMDC1. Hettema JM, et al. Psychiatr Genet, 2009 Aug. PMID 19440164, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel tumour suppressor gene, MDGA2, which is frequently inactivated by promoter methylation in Gastric cancer was identified. Promoter hypermethylation of MDGA2 represents a prognostic biomarker in patients with early stage Gastric cancer.
    Title: MDGA2 is a novel tumour suppressor cooperating with DMAP1 in gastric cancer and is associated with disease outcome.
  2. This finding provides further support for a link between variants in the MDGA2 gene and specific neuroticism-related phenotypes.
    Title: Evidence for associations between MDGA2 polymorphisms and harm avoidance: replication and extension of a genome-wide association finding.
  3. Polymorphisms of rs961616 in MAMDC1 gene were associated with rash and photosensitivity, but not disease risk, of systemic lupus erythematosus in Chinese population.
    Title: Single-nucleotide polymorphisms of MAMDC1 are associated with rash and photosensitivity, but not disease risk, of systemic lupus erythematosus in Chinese mainland population.
  4. This study demonistrated suggested taht Rostral growth of commissural axons requires the cell adhesion molecule MDGA2
    Title: Rostral growth of commissural axons requires the cell adhesion molecule MDGA2.
  5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  7. A novel uncharacterized gene, MAMDC1 (MAM domain containing glycosylphosphatidylinositol anchor 2, also known as MDGA2, MIM 611128), represents a putative susceptibility gene for systemic lupus erythematosus.
    Title: Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE).
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE).
  9. No association of rs7151262 with neuroticism was found
    Title: Follow-up association study of novel neuroticism gene MAMDC1.
  10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
EBI GWAS Catalog
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
EBI GWAS Catalog
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
EBI GWAS Catalog
Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.
EBI GWAS Catalog
Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spinal cord motor neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in side of membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
MAM domain-containing glycosylphosphatidylinositol anchor protein 2
Names
MAM domain containing 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001113498.3 → NP_001106970.4  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL157792, AL162551, AL358832, AL359951, AL591771
    Consensus CDS
    CCDS45098.4
    UniProtKB/Swiss-Prot
    F6W3S7, J3KPX6, Q7Z553
    Related
    ENSP00000382178.4, ENST00000399232.8
    Conserved Domains (6) summary
    smart00408
    Location:325 → 386
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:117 → 197
    IG; Immunoglobulin
    pfam00629
    Location:817 → 989
    MAM; MAM domain, meprin/A5/mu
    pfam13927
    Location:510 → 587
    Ig_3; Immunoglobulin domain
    cd00096
    Location:511 → 514
    Ig; Ig strand A [structural motif]
    cl11960
    Location:418 → 493
    Ig; Immunoglobulin domain

  2. NM_182830.4 → NP_878250.2  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 2

    See identical proteins and their annotated locations for NP_878250.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple 5' coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL591771, AY369208, BC028193, DB095976
    Consensus CDS
    CCDS41948.1
    Conserved Domains (6) summary
    cd06263
    Location:519 → 690
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    cd00096
    Location:126 → 198
    Ig; Immunoglobulin domain
    smart00408
    Location:27 → 88
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:222 → 307
    IG_like; Immunoglobulin like
    pfam00629
    Location:519 → 692
    MAM; MAM domain, meprin/A5/mu
    pfam13895
    Location:314 → 389
    Ig_2; Immunoglobulin domain

RNA

  1. NR_103766.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL359951, BC028193, DB095976
    Related
    ENST00000482848.7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    46839623..47675605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536519.3 → XP_011534821.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X1

    UniProtKB/Swiss-Prot
    F6W3S7, J3KPX6, Q7Z553
    Conserved Domains (6) summary
    cd06263
    Location:772 → 943
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    cd00096
    Location:379 → 451
    Ig; Immunoglobulin domain
    smart00408
    Location:280 → 341
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:72 → 152
    IG_like; Immunoglobulin like
    pfam00629
    Location:772 → 945
    MAM; MAM domain, meprin/A5/mu
    pfam13895
    Location:567 → 642
    Ig_2; Immunoglobulin domain

  2. XM_047431048.1 → XP_047287004.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

    Related
    ENSP00000349925.3, ENST00000357362.7

  3. XM_047431049.1 → XP_047287005.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

  4. XM_047431050.1 → XP_047287006.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

  5. XM_017021060.2 → XP_016876549.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X4

    UniProtKB/Swiss-Prot
    Q7Z553
    Conserved Domains (5) summary
    cd06263
    Location:363 → 534
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    smart00408
    Location:72 → 137
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:66 → 151
    IG_like; Immunoglobulin like
    pfam00629
    Location:363 → 536
    MAM; MAM domain, meprin/A5/mu
    pfam13895
    Location:158 → 233
    Ig_2; Immunoglobulin domain

  6. XM_011536525.3 → XP_011534827.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X7

    Conserved Domains (5) summary
    cd06263
    Location:308 → 479
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    smart00408
    Location:17 → 82
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:11 → 96
    IG_like; Immunoglobulin like
    pfam00629
    Location:308 → 481
    MAM; MAM domain, meprin/A5/mu
    pfam13895
    Location:103 → 178
    Ig_2; Immunoglobulin domain

  7. XM_011536522.4 → XP_011534824.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X3

    Conserved Domains (3) summary
    cd00096
    Location:424 → 496
    Ig; Immunoglobulin domain
    smart00408
    Location:325 → 386
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:117 → 197
    IG_like; Immunoglobulin like

  8. XM_047431051.1 → XP_047287007.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X5

  9. XM_017021061.3 → XP_016876550.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    41038514..41874449 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375504.1 → XP_054231479.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X1

  2. XM_054375505.1 → XP_054231480.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

  3. XM_054375506.1 → XP_054231481.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

  4. XM_054375507.1 → XP_054231482.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

  5. XM_054375509.1 → XP_054231484.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X4

  6. XM_054375512.1 → XP_054231487.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X7

  7. XM_054375508.1 → XP_054231483.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X3

  8. XM_054375510.1 → XP_054231485.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X5

  9. XM_054375511.1 → XP_054231486.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z553.2 GenPept UniProtKB/Swiss-Prot:Q7Z553

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous