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

Gene ID: 161357, updated on 7-Dec-2014
Official Symbol
MDGA2provided by HGNC
Official Full Name
MAM domain containing glycosylphosphatidylinositol anchor 2provided by HGNC
Primary source
HGNC:HGNC:19835
Locus tag
UNQ8188/PRO23197
See related
Ensembl:ENSG00000139915; HPRD:14352; MIM:611128; Vega:OTTHUMG00000029429
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
See MDGA2 in Epigenomics, MapViewer
Location:
14q21.3
Exon count:
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (46839623..47674954, complement)
105 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 long intergenic non-protein coding RNA 871 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 long intergenic non-protein coding RNA 648 Neighboring gene microRNA 548y

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
pattern specification process IEA
Inferred from Electronic Annotation
more info
 
spinal cord motor neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
MAM domain-containing glycosylphosphatidylinositol anchor protein 2
Names
MAM domain-containing glycosylphosphatidylinositol anchor protein 2
MAM domain containing 1

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_001113498.2NP_001106970.3  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 1 precursor

    See proteins identical to NP_001106970.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK309211, AL591771, AY369208
    Consensus CDS
    CCDS45098.3
    UniProtKB/Swiss-Prot
    Q7Z553
    Related
    ENSP00000382178, OTTHUMP00000028200, ENST00000399232, OTTHUMT00000073352
    Conserved Domains (7) summary
    cd06263
    Location:748919
    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:355427
    Ig; Immunoglobulin domain
    smart00408
    Location:256317
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:154219
    IG; Immunoglobulin
    smart00410
    Location:48128
    IG_like; Immunoglobulin like
    pfam00629
    Location:748921
    MAM; MAM domain
    cl11960
    Location:58118
    Ig; Immunoglobulin domain
  2. NM_182830.4NP_878250.2  MAM domain-containing glycosylphosphatidylinositol anchor protein 2 isoform 2

    See proteins identical to 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
    ENSP00000405456, ENST00000426342
    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
    cl11960
    Location:1586
    Ig; Immunoglobulin domain

RNA

  1. NR_103766.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    46839623..47674954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720068.1XP_006720131.1  

    Conserved Domains (7) summary
    cd06263
    Location:749920
    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:356428
    Ig; Immunoglobulin domain
    smart00408
    Location:257318
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:155220
    IG; Immunoglobulin
    smart00410
    Location:49129
    IG_like; Immunoglobulin like
    pfam00629
    Location:749922
    MAM; MAM domain
    cl11960
    Location:59119
    Ig; Immunoglobulin domain

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    47247613..48082719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    27426615..28261881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)