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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
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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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