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

Gene ID: 256691, updated on 11-Jun-2021

Summary

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
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
Expression
Ubiquitous expression in ovary (RPKM 16.0), endometrium (RPKM 14.8) and 24 other tissues See more
Orthologs
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Genomic context

See MAMDC2 in Genome Data Viewer
Location:
9q21.12
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (70043581..70226972)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (72658497..72841888)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene CFAP95 divergent transcript Neighboring gene cilia and flagella associated protein 95 Neighboring gene RNA, 7SL, cytoplasmic 570, pseudogene Neighboring gene MAMDC2 antisense RNA 1 Neighboring gene RNA, U2 small nuclear 5, pseudogene Neighboring gene SMC5 divergent transcript Neighboring gene RPL24 pseudogene 8 Neighboring gene structural maintenance of chromosomes 5 Neighboring gene KLF9 divergent transcript Neighboring gene Kruppel like factor 9

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC21981

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
MAM domain-containing protein 2
Names
MAM domain-containing proteoglycan
mamcan

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.

Genomic

  1. NG_052797.1 RefSeqGene

    Range
    5330..188454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001347990.2NP_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_153267.5NP_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
    ENSP00000366387.4, ENST00000377182.5
    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 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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    70043581..70226972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518475.3XP_011516777.1  MAM domain-containing protein 2 isoform X2

    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_011518471.2XP_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.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315930.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    19469..158535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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