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

Gene ID: 114569, updated on 27-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
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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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