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    MAL2 mal, T cell differentiation protein 2 [ Homo sapiens (human) ]

    Gene ID: 114569, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MAL2provided by HGNC
    Official Full Name
    mal, T cell differentiation protein 2provided by HGNC
    Primary source
    HGNC:HGNC:13634
    See related
    Ensembl:ENSG00000147676 MIM:609684; AllianceGenome:HGNC:13634
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in esophagus (RPKM 140.3), thyroid (RPKM 100.0) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAL2 in Genome Data Viewer
    Location:
    8q24.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (119208363..119245673)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (120336831..120374123)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (120220602..120257913)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene collectin subfamily member 10 Neighboring gene uncharacterized LOC101927513 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:120079461-120080660 Neighboring gene Sharpr-MPRA regulatory region 7316 Neighboring gene NANOG hESC enhancer GRCh37_chr8:120136171-120136709 Neighboring gene uncharacterized LOC105375725 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:120176788-120177403 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:120181673-120182872 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:120218741-120219940 Neighboring gene MAL2 antisense RNA 1 Neighboring gene microRNA 548az Neighboring gene uncharacterized LOC124902009 Neighboring gene small nucleolar RNA SNORA32

    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
    • 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. MAL2 drives immune evasion in breast cancer by suppressing tumor antigen presentation. Fang Y, et al. J Clin Invest, 2021 Jan 4. PMID 32990678, Free PMC Article
    2. Dynamics of MAL2 during glycosylphosphatidylinositol-anchored protein transcytotic transport to the apical surface of hepatoma HepG2 cells. de Marco MC, et al. Traffic, 2006 Jan. PMID 16445687
    3. Expression of MAL and MAL2, two elements of the protein machinery for raft-mediated transport, in normal and neoplastic human tissue. Marazuela M, et al. Histol Histopathol, 2004 Jul. PMID 15168355
    4. MAL2 promotes proliferation, migration, and invasion through regulating epithelial-mesenchymal transition in breast cancer cell lines. Bhandari A, et al. Biochem Biophys Res Commun, 2018 Oct 2. PMID 30195491
    5. MiR-129 regulates growth and invasion by targeting MAL2 in papillary thyroid carcinoma. Gao X, et al. Biomed Pharmacother, 2018 Sep. PMID 30021343

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LINC00460 Facilitates Cell Proliferation and Inhibits Ferroptosis in Breast Cancer Through the miR-320a/MAL2 Axis.
      Title: LINC00460 Facilitates Cell Proliferation and Inhibits Ferroptosis in Breast Cancer Through the miR-320a/MAL2 Axis.
    2. The novel circ_0084904/miR-802/MAL2 axis promotes the development of cervical cancer.
      Title: The novel circ_0084904/miR-802/MAL2 axis promotes the development of cervical cancer.
    3. MAL2 drives immune evasion in breast cancer by suppressing tumor antigen presentation.
      Title: MAL2 drives immune evasion in breast cancer by suppressing tumor antigen presentation.
    4. MAL2 interacts with IQGAP1 to promote pancreatic cancer progression by increasing ERK1/2 phosphorylation.
      Title: MAL2 interacts with IQGAP1 to promote pancreatic cancer progression by increasing ERK1/2 phosphorylation.
    5. RP11-284F21.9 knockdown could reduce MAL2 expression, while miR-383-5p inhibitors abolished this repressive effect
      Title: RP11-284F21.9 promotes oral squamous cell carcinoma development via the miR-383-5p/MAL2 axis.
    6. MAL2 has a role in promoting proliferation, migration, and invasion through regulating epithelial-mesenchymal transition in breast cancer cell lines
      Title: MAL2 promotes proliferation, migration, and invasion through regulating epithelial-mesenchymal transition in breast cancer cell lines.
    7. Up-regulation of MAL2 was hound in papillary thyroid gland tissues and significantly correlated with poor overall survival.
      Title: MiR-129 regulates growth and invasion by targeting MAL2 in papillary thyroid carcinoma.
    8. data suggested that MAL2 and TPD52 might be potential biomarkers for clinical prognosis and might be a promising therapeutic target for CRC
      Title: The four-transmembrane protein MAL2 and tumor protein D52 (TPD52) are highly expressed in colorectal cancer and correlated with poor prognosis.
    9. MAL2 and STK16 function to sort secretory soluble cargo into the constitutive secretory pathway in hepatocytes.
      Title: Serine/threonine kinase 16 and MAL2 regulate constitutive secretion of soluble cargo in hepatic cells.
    10. Results prove for the first time the interaction of PLP and MAL2 in oligodendrocytic cells, supporting the transcytotic model of PLP transport previously suggested.
      Title: Interaction of PLP with GFP-MAL2 in the human oligodendroglial cell line HOG.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    EBI GWAS Catalog

    Description
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    EBI GWAS Catalog
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein MAL2
    Names
    MAL proteolipid protein 2
    MAL2 proteolipid protein
    myelin and lymphocyte protein 2

    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.

    mRNA and Protein(s)

    1. NM_052886.3 → NP_443118.1  protein MAL2

      See identical proteins and their annotated locations for NP_443118.1

      Status: REVIEWED

      Source sequence(s)
      AC087856, AY007723, CV574204
      Consensus CDS
      CCDS75780.1
      UniProtKB/Swiss-Prot
      B2R520, Q6ZMD9, Q969L2
      Related
      ENSP00000479708.1, ENST00000614891.5
      Conserved Domains (1) summary
      pfam01284
      Location:32 → 169
      MARVEL; Membrane-associating domain

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      119208363..119245673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516807.3 → XP_011515109.1  protein MAL2 isoform X1

      Conserved Domains (1) summary
      pfam01284
      Location:44 → 112
      MARVEL; Membrane-associating domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      120336831..120374123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359693.1 → XP_054215668.1  protein MAL2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969L2.1 GenPept UniProtKB/Swiss-Prot:Q969L2

    Gene LinkOut

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

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