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

    Gene ID: 256691, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:23673
    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
    Summary
    Predicted to enable glycosaminoglycan binding activity. Predicted to be involved in nervous system development. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 16.0), endometrium (RPKM 14.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAMDC2 in Genome Data Viewer
    Location:
    9q21.12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (70043581..70226972)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (82210377..82393821)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (72658497..72841888)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19937 Neighboring gene CFAP95 divergent transcript Neighboring gene cilia and flagella associated protein 95 Neighboring gene RNA, 7SL, cytoplasmic 570, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr9:72538823-72539553 Neighboring gene uncharacterized LOC124902179 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:72653226-72653743 Neighboring gene Sharpr-MPRA regulatory region 7941 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 ATAC-STARR-seq lymphoblastoid active region 28450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:72888582-72889082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:72889083-72889583 Neighboring gene structural maintenance of chromosomes 5 Neighboring gene uncharacterized LOC124900273 Neighboring gene KLF9-II enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr9:73027338-73027530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28451 Neighboring gene KLF transcription factor 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy. Mavillard F, et al. Brain, 2023 Dec 1. PMID 37503746
    2. MAM domain containing 2 is a potential breast cancer biomarker that exhibits tumour-suppressive activity. Lee H, et al. Cell Prolif, 2020 Sep. PMID 32707597, Free PMC Article
    3. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    5. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
      Title: Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
    2. MAM domain containing 2 is a potential breast cancer biomarker that exhibits tumour-suppressive activity.
      Title: MAM domain containing 2 is a potential breast cancer biomarker that exhibits tumour-suppressive activity.
    3. 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.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 
    Process Evidence Code Pubs
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

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    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_001347990.2 → NP_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
      UniProtKB/TrEMBL
      A0A0G2JQ91

    2. NM_153267.5 → NP_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
      Q5VW47, Q7Z304, Q8WX43, Q96BM4
      UniProtKB/TrEMBL
      B4E320
      Related
      ENSP00000366387.4, ENST00000377182.5
      Conserved Domains (2) summary
      cd06263
      Location:509 → 664
      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:509 → 666
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315930.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      82210377..82393821
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z304.3 GenPept UniProtKB/Swiss-Prot:Q7Z304

    Gene LinkOut

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

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