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

Gene ID: 161357, updated on 11-Jun-2021

Summary

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
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
Expression
Biased expression in brain (RPKM 1.3) and testis (RPKM 0.6) See more
Orthologs
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Genomic context

See MDGA2 in Genome Data Viewer
Location:
14q21.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (46836518..47675605, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (47308826..48144157, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370480 Neighboring gene uncharacterized LOC105370481 Neighboring gene ribosomal protein L10 like Neighboring gene replication protein A2 pseudogene 1 Neighboring gene ribosomal protein L13a pseudogene 2 Neighboring gene ribosomal protein S15a pseudogene 3 Neighboring gene kinesin family member 20B pseudogene Neighboring gene long intergenic non-protein coding RNA 648 Neighboring gene microRNA 548y

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
GeneReviews: Not available
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
GeneReviews: Not available
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
GeneReviews: Not available
Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.
GeneReviews: Not available
Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in spinal cord motor neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
located_in anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
MAM domain-containing glycosylphosphatidylinositol anchor protein 2
Names
MAM domain containing 1

NCBI Reference Sequences (RefSeq)

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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_001113498.3NP_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
    CCDS45098.3
    Related
    ENSP00000382178.4, ENST00000399232.8
    Conserved Domains (6) summary
    smart00408
    Location:325386
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:117197
    IG; Immunoglobulin
    pfam00629
    Location:817989
    MAM; MAM domain, meprin/A5/mu
    pfam13927
    Location:510587
    Ig_3; Immunoglobulin domain
    cd00096
    Location:511514
    Ig; Ig strand A [structural motif]
    cl11960
    Location:418493
    Ig; Immunoglobulin domain
  2. NM_182830.4NP_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
    UniProtKB/Swiss-Prot
    Q7Z553
    Related
    ENSP00000349925.3, ENST00000357362.7
    Conserved Domains (6) summary
    cd06263
    Location:519690
    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:126198
    Ig; Immunoglobulin domain
    smart00408
    Location:2788
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:222307
    IG_like; Immunoglobulin like
    pfam00629
    Location:519692
    MAM; MAM domain, meprin/A5/mu
    pfam13895
    Location:314389
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    46836518..47675605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (6) summary
    cd06263
    Location:772943
    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:379451
    Ig; Immunoglobulin domain
    smart00408
    Location:280341
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:72152
    IG_like; Immunoglobulin like
    pfam00629
    Location:772945
    MAM; MAM domain, meprin/A5/mu
    pfam13895
    Location:567642
    Ig_2; Immunoglobulin domain
  2. XM_011536525.2XP_011534827.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X5

    Conserved Domains (5) summary
    cd06263
    Location:308479
    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:1782
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:1196
    IG_like; Immunoglobulin like
    pfam00629
    Location:308481
    MAM; MAM domain, meprin/A5/mu
    pfam13895
    Location:103178
    Ig_2; Immunoglobulin domain
  3. XM_017021060.1XP_016876549.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X3

    UniProtKB/Swiss-Prot
    Q7Z553
    Conserved Domains (5) summary
    cd06263
    Location:363534
    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:72137
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:66151
    IG_like; Immunoglobulin like
    pfam00629
    Location:363536
    MAM; MAM domain, meprin/A5/mu
    pfam13895
    Location:158233
    Ig_2; Immunoglobulin domain
  4. XM_011536522.3XP_011534824.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X2

    Conserved Domains (3) summary
    cd00096
    Location:424496
    Ig; Immunoglobulin domain
    smart00408
    Location:325386
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:117197
    IG_like; Immunoglobulin like
  5. XM_017021061.2XP_016876550.1  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform X4

RNA

  1. XR_001750175.2 RNA Sequence

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