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MAMDC2 MAM domain containing 2 [ Homo sapiens (human) ]

Gene ID: 256691, updated on 20-Feb-2017
Official Symbol
MAMDC2provided by HGNC
Official Full Name
MAM domain containing 2provided by HGNC
Primary source
HGNC:HGNC:23673
See related
Ensembl:ENSG00000165072 MIM:612879; Vega:OTTHUMG00000019990
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
Orthologs
Location:
9q21.12
Exon count:
16
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (70043519..70226972)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (72658435..72841899)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene C9orf135 antisense RNA 1 (head to head) Neighboring gene chromosome 9 open reading frame 135 Neighboring gene RNA, 7SL, cytoplasmic 570, pseudogene Neighboring gene MAMDC2 antisense RNA 1 Neighboring gene RNA, U2 small nuclear 5, pseudogene Neighboring gene SMC5 antisense RNA 1 (head to head) Neighboring gene ribosomal protein L24 pseudogene 8 Neighboring gene structural maintenance of chromosomes 5 Neighboring gene uncharacterized LOC101927086 Neighboring gene Kruppel like factor 9

  • 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 Jun 15 11:32:44 2016

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC21981

Gene Ontology Provided by GOA

Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
MAM domain-containing protein 2
Names
MAM domain-containing proteoglycan
mamcan

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.

Genomic

  1. NG_052797.1 RefSeqGene

    Range
    5063..188454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001347990.1NP_001334919.1  MAM domain-containing protein 2 isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' structure, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI003621, AL392044
  2. NM_153267.4NP_694999.3  MAM domain-containing protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_694999.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL158153, AL392044, BC063634
    Consensus CDS
    CCDS6631.1
    UniProtKB/Swiss-Prot
    Q7Z304
    Related
    ENSP00000366387, OTTHUMP00000021440, ENST00000377182, OTTHUMT00000052600
    Conserved Domains (2) summary
    cd06263
    Location:509664
    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 ...
    pfam00629
    Location:509666
    MAM; MAM domain, meprin/A5/mu

RNA

  1. NR_125850.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL158153, AL392044, BC040299

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

    Range
    70043519..70226972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518475.2XP_011516777.1  MAM domain-containing protein 2 isoform X3

    Conserved Domains (2) summary
    cd06263
    Location:170327
    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 ...
    pfam00629
    Location:170327
    MAM; MAM domain, meprin/A5/mu
  2. XM_017014587.1XP_016870076.1  MAM domain-containing protein 2 isoform X2

  3. XM_011518471.1XP_011516773.1  MAM domain-containing protein 2 isoform X1

    Conserved Domains (2) summary
    cd06263
    Location:170327
    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 ...
    pfam00629
    Location:170327
    MAM; MAM domain, meprin/A5/mu

Reference GRCh38.p7 ALT_REF_LOCI_1

Genomic

  1. NW_003315930.1 Reference GRCh38.p7 ALT_REF_LOCI_1

    Range
    19469..152600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    72805051..72988390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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