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

    Gene ID: 114569, updated on 17-Sep-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_052886.3NP_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:32169
      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_011516807.3XP_011515109.1  protein MAL2 isoform X1

      Conserved Domains (1) summary
      pfam01284
      Location:44112
      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_054359693.1XP_054215668.1  protein MAL2 isoform X1