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MAL Gene

protein-coding   GIFtS: 52
GCID: GC02P095691

Mal, T-Cell Differentiation Protein

  See MAL-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mal, T-Cell Differentiation Protein1 2
T-Lymphocyte Maturation-Associated Protein2 3
Myelin And Lymphocyte Protein2

External Ids:    HGNC: 68171   Entrez Gene: 41182   Ensembl: ENSG000001720057   OMIM: 1888605   UniProtKB: P211453   
ORGUL members:         

Export aliases for MAL gene to outside databases

Previous GC identifers: GC02P093589 GC02P094125 GC02P095159 GC02P095176 GC02P095113 GC02P089724


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MAL Gene:
The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of
proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker
protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in
the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the
formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of
this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four
transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3.
(provided by RefSeq, May 2012)

GeneCards Summary for MAL Gene:
MAL (mal, T-cell differentiation protein) is a protein-coding gene. Diseases associated with MAL include megakaryocytic leukemia, and metachromatic leukodystrophy. GO annotations related to this gene include lipid binding and structural constituent of myelin sheath. An important paralog of this gene is MAL2.

UniProtKB/Swiss-Prot: MAL_HUMAN, P21145
Function: Could be an important component in vesicular trafficking cycling between the Golgi complex and the
apical plasma membrane. Could be involved in myelin biogenesis and/or myelin function

Gene Wiki entry for MAL Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAL gene promoter:
         GR   IRF-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MAL promoter sequence
   Search Chromatin IP Primers for MAL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q11.1   Ensembl cytogenetic band:  2q11.1   HGNC cytogenetic band: 2q11.1

MAL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAL gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P095691:  view genomic region     (about GC identifiers)

Start:
95,691,422 bp from pter      End:
95,719,737 bp from pter
Size:
28,316 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MAL_HUMAN, P21145 (See protein sequence)
Recommended Name: Myelin and lymphocyte protein  
Size: 153 amino acids; 16714 Da
Developmental stage: Expressed in the intermediate and late stages of T-cell differentiation
Secondary accessions: Q6FH77
Alternative splicing: 4 isoforms:  P21145-1   P21145-2   P21145-3   P21145-4   

Explore the universe of human proteins at neXtProt for MAL: NX_P21145

Post-translational modifications: 

  • Lipoprotein1
  • Modification sites at neXtProt
  • REFSEQ proteins (4 alternative transcripts): 
    NP_002362.1  NP_071883.1  NP_071884.1  NP_071885.1  

    ENSEMBL proteins: 
     ENSP00000310880   ENSP00000306568   ENSP00000304924   ENSP00000322860  

    MAL Human Recombinant Protein Products:

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    OriGene Purified Proteins for MAL
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    Novus Biologicals MAL Protein
    Novus Biologicals MAL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAL

     
    Search eBioscience for Proteins for MAL 

     
    antibodies-online proteins for MAL (2 products) 

     
    Search antibodies-online for peptides for MAL

    MAL Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for MAL
    antibodies-online antibodies for MAL (28 products) 

    MAL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MAL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MAL
    Cloud-Clone Corp. CLIAs for MAL
    Search eBioscience for ELISAs for MAL 
    antibodies-online kits for MAL (11 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR013295 MAL
     IPR008253 Marvel

    Graphical View of Domain Structure for InterPro Entry P21145

    ProtoNet protein and cluster: P21145

    1 Blocks protein domain: IPB008253 Marvel

    UniProtKB/Swiss-Prot: MAL_HUMAN, P21145
    Similarity: Belongs to the MAL family
    Similarity: Contains 1 MARVEL domain


    Find genes that share domains with MAL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAL_HUMAN, P21145
    Function: Could be an important component in vesicular trafficking cycling between the Golgi complex and the
    apical plasma membrane. Could be involved in myelin biogenesis and/or myelin function

         Genatlas biochemistry entry for MAL:
    T-cell differentiation proteolipid protein,localized in the endoplasmic reticulum

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008289lipid binding TAS10739088
    GO:0015267channel activity TAS3494249
    GO:0016505peptidase activator activity involved in apoptotic process NAS10366425
    GO:0019911structural constituent of myelin sheath IDA12153479
         
    Find genes that share ontologies with MAL           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mal):
     nervous system  vision/eye 

    Find genes that share phenotypes with MAL           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAL

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat MAL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAL (see all 10):
    hsa-miR-142-5p hsa-miR-30c hsa-miR-30d hsa-miR-340 hsa-miR-548l hsa-miR-1262 hsa-miR-30a hsa-miR-30b
    SwitchGear 3'UTR luciferase reporter plasmidMAL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAL
    Predesigned siRNA for gene silencing in human, mouse, rat MAL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MAL

    Clone
    Products:
         
    OriGene clones in human, mouse for MAL (see all 23)
    OriGene ORF clones in mouse, rat for MAL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): MAL (NM_002371)
    Sino Biological Human cDNA Clone for MAL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAL

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MAL
    Browse ESI BIO Cell Lines and PureStem Progenitors for MAL 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MAL_HUMAN, P21145: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    endosome4
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome TAS9003426
    GO:0005783endoplasmic reticulum IDA8132541
    GO:0005887integral component of plasma membrane TAS9003426
    GO:0016020membrane ----
    GO:0016324apical plasma membrane TAS10739088

    Find genes that share ontologies with MAL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including MAL: 
              Multiple Sclerosis in human mouse rat
              Toll-Like Receptor Signaling Pathway in human mouse rat
              Type I Interferon Response in human mouse rat
              Apoptosis 384HT in human mouse rat
              Hematopoiesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MAL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for MAL (P211451 ENSP000003108804) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP7Q930091, ENSP000003435354EBI-3932027,EBI-302474 STRING: ENSP00000343535
    BTKQ061871, ENSP000003081764EBI-3932027,EBI-624835 STRING: ENSP00000308176
    SRCENSP000003509414STRING: ENSP00000350941
    PIK3R1ENSP000002743354STRING: ENSP00000274335
    PTK2ENSP000003411894STRING: ENSP00000341189
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001766membrane raft polarization TAS12153479
    GO:0006915apoptotic process NAS10366425
    GO:0007417central nervous system development TAS10739088
    GO:0030154cell differentiation TAS10739088
    GO:0042552myelination TAS10428054

    Find genes that share ontologies with MAL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MAL

    4 Novoseek inferred chemical compound relationships for MAL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 57.8 1 19445022 (1), 12776198 (1)
    lipid 21.7 5 9168919 (1), 16785208 (1), 11739628 (1), 19208741 (1)
    cholesterol 17.8 3 9168919 (1), 17494867 (1), 9126323 (1)
    sucrose 13.4 3 9168919 (1), 9003426 (1)



    Find genes that share compounds with MAL           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MAL gene (4 alternative transcripts): 
    NM_002371.3  NM_022438.2  NM_022439.2  NM_022440.2  

    Unigene Cluster for MAL:

    Mal, T-cell differentiation protein
    Hs.80395  [show with all ESTs]
    Unigene Representative Sequence: AK096093
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000489399 ENST00000309988(uc002stx.1 uc002sty.1 uc002stz.1 uc002sua.1)
    ENST00000353004 ENST00000354078 ENST00000349807
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MAL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAL (see all 10):
    hsa-miR-142-5p hsa-miR-30c hsa-miR-30d hsa-miR-340 hsa-miR-548l hsa-miR-1262 hsa-miR-30a hsa-miR-30b
    SwitchGear 3'UTR luciferase reporter plasmidMAL 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAL
    Predesigned siRNA for gene silencing in human, mouse, rat MAL
    Clone
    Products:
         
    OriGene clones in human, mouse for MAL (see all 23)
    OriGene ORF clones in mouse, rat for MAL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): MAL (NM_002371)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAL
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MAL
    OriGene qSTAR qPCR primer pairs in human, mouse for MAL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAL
      QuantiTect SYBR Green Assays in human, mouse, rat MAL
      QuantiFast Probe-based Assays in human, mouse, rat MAL

    Additional mRNA sequence: 

    AK096093.1 AK123269.1 AK311844.1 BC000458.2 BC003006.1 CR541879.1 M15800.1 X76678.1 
    X76679.1 X76680.1 X76681.1 

    6 DOTS entries:

    DT.451570  DT.97817686  DT.95272873  DT.99935745  DT.97806374  DT.92428352 

    Selected AceView cDNA sequences (see all 134):

    BI755543 X76680 C00666 X76681 AW250996 CR541879 X76678 AA025979 
    T87640 CD674955 NM_002371 BM664675 AA227727 AK096093 BM703177 AA341422 
    H41612 X76679 H19937 AA227594 BC000458 BQ067434 BX457478 AI991778 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MAL    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c
    SP1:                    -                                 
    SP2:                    -     -                           
    SP3:                    -           -                     
    SP4:                                                      


    ECgene alternative splicing isoforms for MAL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MAL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGAAGACG
    MAL Expression
    About this image


    MAL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Ureteric Bud Cells Ureteric Bud
             Renal Collecting Duct System
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             T-Cytotoxic Cells Peripheral Blood
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Pro-myelinating Schwann Cells Peripheral Nerve Domain
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
    MAL Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.80395
        Pathway & Disease-focused RT2 Profiler PCR Arrays including MAL: 
              Multiple Sclerosis in human mouse rat
              Toll-Like Receptor Signaling Pathway in human mouse rat
              Type I Interferon Response in human mouse rat
              Apoptosis 384HT in human mouse rat
              Hematopoiesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MAL
    OriGene qSTAR qPCR primer pairs in human, mouse for MAL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAL
    QuantiTect SYBR Green Assays in human, mouse, rat MAL
    QuantiFast Probe-based Assays in human, mouse, rat MAL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MAL gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mal1 , 5 myelin and lymphocyte protein, T cell differentiation more1, 5 85.84(n)1
    86.93(a)1
      2 (62.06 cM)5
    171531  NM_010762.51  NP_034892.11 
     1276332265 
    chicken
    (Gallus gallus)
    Aves MAL1 mal, T-cell differentiation protein 62.84(n)
    60.81(a)
      416707  NM_001199391.1  NP_001186320.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAL6
    mal, T-cell differentiation protein
    58(a)
    1 ↔ 1
    1(252836019-252841007)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686922 hypothetical protein MGC68692 71.53(n)    BC059789.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mal1 mal, T-cell differentiation protein 58.39(n)
    53.69(a)
      550381  NM_001017686.1  NP_001017686.1 


    ENSEMBL Gene Tree for MAL (if available)
    TreeFam Gene Tree for MAL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAL gene
    MAL22  MALL2  
    3 SIMAP similar genes for MAL using alignment to 1 protein entry:     MAL_HUMAN:
    MALL    CMTM8    MAL2

    Find genes that share paralogs with MAL           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MAL (see all 493)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1997053141,2
    C--95689573(+) AGGTGA/GGAGGA 4 -- us2k10--------
    rs1382676981,2
    C--95689620(+) TGGCCA/GGGCTG 4 -- us2k10--------
    rs1829286391,2
    --95690045(+) GTCCAA/GCTAAC 4 -- us2k10--------
    rs748090551,2
    C,F--95690106(+) CAGCCC/TATTGT 4 -- us2k11Minor allele frequency- T:0.04WA 118
    rs775627691,2
    C,F--95690140(+) GACCCG/AACACA 4 -- us2k11Minor allele frequency- A:0.04WA 118
    rs22797851,2
    C,F,H--95690258(+) TGATGG/CGCGTG 4 -- us2k118Minor allele frequency- C:0.11EA NS NA MN 2964
    rs1853042031,2
    --95690279(+) TTTGGA/GAAATG 4 -- us2k10--------
    rs1414387811,2
    --95690291(+) GTCCAC/TGAATA 4 -- us2k10--------
    rs798450781,2
    C,F--95690355(+) TGAAGG/TCCCCA 4 -- us2k11Minor allele frequency- T:0.04NA 120
    rs1911924971,2
    --95690446(+) GTTGCA/GGGGCC 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAL (95691422 - 95719737 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MAL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660798CNV Deletion23128226

    Human Gene Mutation Database (HGMD): MAL
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAL
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 188860    OMIM disorders: --

    3 diseases for MAL:    
    About MalaCards
    megakaryocytic leukemia    metachromatic leukodystrophy    primary mediastinal large b-cell lymphoma


    Find genes that share disorders with MAL           About GenesLikeMe

    2 Novoseek inferred disease relationships for MAL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 11.2 6 19642140 (1), 19002170 (1), 12776198 (1), 19662663 (1)
    tumors 0 12 15188492 (2), 19445022 (2), 12429796 (2), 19642140 (1) (see all 6)

    Genetic Association Database (GAD): MAL
    Human Genome Epidemiology (HuGE) Navigator: MAL (48 documents)

    Export disorders for MAL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MAL gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with MAL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure and subcellular localization of MAL, a human T- cell-specific proteolipid protein. (PubMed id 8132541)1, 2, 9 Rancano C.... Alonso M.A. (J. Biol. Chem. 1994)
    2. Alternative splicing of human T-cell-specific MAL mRNA and its correlation with the exon/intron organization of the gene. (PubMed id 8088843)1, 2, 9 Rancano C.... Alonso M.A. (Genomics 1994)
    3. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    5. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (amp 2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. cDNA cloning and sequence of MAL, a hydrophobic protein associated with human T-cell differentiation. (PubMed id 3494249)1, 2 Alonso M.A. and Weissman S.M. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    8. MAL expression in lymphoid cells: further evidence for MAL as a distinct molecular marker of primary mediastinal large B-cell lymphomas. (PubMed id 12429796)1, 9 Copie-Bergman C....Gaulard P. (Mod. Pathol. 2002)
    9. Elevated MAL expression is accompanied by promoter hypomethylation and platinum resistance in epithelial ovarian cancer. (PubMed id 19642140)1, 9 Lee P.S....Murphy S.K. (Int. J. Cancer 2010)
    10. Expression of the MAL gene in the thyroid: the MAL proteolipid, a component of glycolipid-enriched membranes, is apically distributed in thyroid follicles. (PubMed id 9528996)1, 9 MartA-n-Belmonte F....Alonso M.A. (Endocrinology 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4118 HGNC: 6817 AceView: MAL Ensembl:ENSG00000172005 euGenes: HUgn4118
    ECgene: MAL H-InvDB: MAL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MAL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAL Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAL gene:
    Search GeneIP for patents involving MAL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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