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Aliases for MAL Gene

Aliases for MAL Gene

  • Mal, T Cell Differentiation Protein 2 3 5
  • T-Lymphocyte Maturation-Associated Protein 3 4
  • Myelin And Lymphocyte Protein 2 3
  • MyD88-Adapter-Like 2 3
  • Mal, T-Cell Differentiation Protein 2
  • MVP17 3
  • VIP17 3

External Ids for MAL Gene

Previous GeneCards Identifiers for MAL Gene

  • GC02P093589
  • GC02P094125
  • GC02P095159
  • GC02P095176
  • GC02P095113
  • GC02P095691
  • GC02P089724

Summaries for MAL Gene

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 Metachromatic Leukodystrophy and Fucosidosis. Gene Ontology (GO) annotations related to this gene include lipid binding and peptidase activator activity involved in apoptotic process. An important paralog of this gene is MALL.

UniProtKB/Swiss-Prot for MAL Gene

  • 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

Additional gene information for MAL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAL Gene

Genomics for MAL Gene

GeneHancer (GH) Regulatory Elements for MAL Gene

Promoters and enhancers for MAL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J095025 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.7 678 2.2 SUZ12 NR2F1 EBF1 DPF2 CBX8 HDAC2 POLR2A IKZF1 MLLT1 PRDM10 MAL ENSG00000233850 CYP4F32P
GH02J095024 Enhancer 0.8 FANTOM5 Ensembl dbSUPER 653.3 -1.2 -1154 0.6 EZH2 MAL GPAT2P1 KCNIP3 TRIM43B RN7SL575P
GH02J095068 Enhancer 0.7 dbSUPER 12.1 +43.7 43707 2 ELF3 ZBTB21 ZFP64 ZNF140 ZNF266 THRB ZNF697 ZNF664 ZNF213 ZNF433 ZNF514 KCNIP3 ENSG00000233850 MAL GPAT2P1 LOC105373488 ENSG00000231062
GH02J095053 Enhancer 0.5 dbSUPER 12.6 +28.7 28737 1.1 CTCF NFIC NFIB RAD21 ENSG00000231062 KCNIP3 ENSG00000233850 MAL ZNF514 LOC105373488
GH02J095055 Enhancer 0.5 dbSUPER 12.6 +30.4 30442 1.3 SOX5 AHR HLF CREB1 EBF1 ZNF48 ENSG00000233850 MAL ZNF514 ENSG00000231062 LOC105373488
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAL gene promoter:
  • IRF-1
  • NF-kappaB1
  • GR

Genomic Locations for MAL Gene

Genomic Locations for MAL Gene
chr2:95,025,655-95,053,996
(GRCh38/hg38)
Size:
28,342 bases
Orientation:
Plus strand
chr2:95,691,422-95,719,737
(GRCh37/hg19)
Size:
28,316 bases
Orientation:
Plus strand

Genomic View for MAL Gene

Genes around MAL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAL Gene

Proteins for MAL Gene

  • Protein details for MAL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21145-MAL_HUMAN
    Recommended name:
    Myelin and lymphocyte protein
    Protein Accession:
    P21145
    Secondary Accessions:
    • Q6FH77

    Protein attributes for MAL Gene

    Size:
    153 amino acids
    Molecular mass:
    16714 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MAL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAL Gene

Post-translational modifications for MAL Gene

Other Protein References for MAL Gene

No data available for DME Specific Peptides for MAL Gene

Domains & Families for MAL Gene

Gene Families for MAL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MAL Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P21145

UniProtKB/Swiss-Prot:

MAL_HUMAN :
  • Belongs to the MAL family.
Family:
  • Belongs to the MAL family.
genes like me logo Genes that share domains with MAL: view

Function for MAL Gene

Molecular function for MAL Gene

UniProtKB/Swiss-Prot 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:
T-cell differentiation proteolipid protein,localized in the endoplasmic reticulum

Gene Ontology (GO) - Molecular Function for MAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21988832
GO:0008289 lipid binding TAS 10739088
GO:0016505 peptidase activator activity involved in apoptotic process NAS 10366425
GO:0019911 structural constituent of myelin sheath IDA 12153479
genes like me logo Genes that share ontologies with MAL: view
genes like me logo Genes that share phenotypes with MAL: view

Animal Models for MAL Gene

MGI Knock Outs for MAL:
  • Mal Mal<tm1Nsw>

Animal Model Products

  • Taconic Biosciences Mouse Models for MAL

miRNA for MAL Gene

miRTarBase miRNAs that target MAL

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAL Gene

Localization for MAL Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAL Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAL gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 8132541
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
GO:0016324 apical plasma membrane TAS 10739088
GO:0045121 membrane raft IDA 12153479
genes like me logo Genes that share ontologies with MAL: view

Pathways & Interactions for MAL Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001766 membrane raft polarization TAS 12153479
GO:0006915 apoptotic process NAS 10366425
GO:0007417 central nervous system development TAS 10739088
GO:0030154 cell differentiation TAS 10739088
GO:0042552 myelination TAS 10428054
genes like me logo Genes that share ontologies with MAL: view

No data available for Pathways by source and SIGNOR curated interactions for MAL Gene

Drugs & Compounds for MAL Gene

(6) Drugs for MAL Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminolevulinic acid Approved Pharma 170
Dermatologic Agents Pharma 6201
Methyl 5-aminolevulinate Pharma 62
Photosensitizing Agents Pharma 516

(2) Additional Compounds for MAL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAL: view

Transcripts for MAL Gene

mRNA/cDNA for MAL Gene

Unigene Clusters for MAL Gene

Mal, T-cell differentiation protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAL Gene

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

Relevant External Links for MAL Gene

GeneLoc Exon Structure for
MAL
ECgene alternative splicing isoforms for
MAL

Expression for MAL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAL Gene

This gene is overexpressed in Esophagus - Mucosa (x20.9) and Vagina (x5.5).

NURSA nuclear receptor signaling pathways regulating expression of MAL Gene:

MAL

SOURCE GeneReport for Unigene cluster for MAL Gene:

Hs.80395

Evidence on tissue expression from TISSUES for MAL Gene

  • Nervous system(4.8)
  • Lung(4.2)
  • Blood(4.1)
  • Kidney(3.2)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with MAL: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAL Gene

Orthologs for MAL Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAL 34 33
  • 99.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mal 33
  • 86.93 (n)
dog
(Canis familiaris)
Mammalia MAL 34 33
  • 86.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mal 16 34 33
  • 85.84 (n)
cow
(Bos Taurus)
Mammalia MAL 33
  • 80.17 (n)
-- 34
  • 79 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MAL 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAL 34
  • 37 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAL 34 33
  • 62.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAL 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mal 33
  • 57.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68692 33
zebrafish
(Danio rerio)
Actinopterygii mal 34 33
  • 58.39 (n)
OneToMany
MAL (3 of 3) 34
  • 44 (a)
OneToMany
MAL (2 of 3) 34
  • 44 (a)
OneToMany
Species where no ortholog for MAL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAL Gene

ENSEMBL:
Gene Tree for MAL (if available)
TreeFam:
Gene Tree for MAL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAL: view image

Paralogs for MAL Gene

Paralogs for MAL Gene

(3) SIMAP similar genes for MAL Gene using alignment to 1 proteins:

  • MAL_HUMAN
genes like me logo Genes that share paralogs with MAL: view

Variants for MAL Gene

Sequence variations from dbSNP and Humsavar for MAL Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000067547 -- 95,035,901(+) C/T intron_variant
rs1000267522 -- 95,030,349(+) T/ intron_variant
rs1000448196 -- 95,030,123(+) G/A intron_variant
rs1000530031 -- 95,053,981(+) C/G 3_prime_UTR_variant
rs1000682959 -- 95,048,317(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MAL Gene

Variant ID Type Subtype PubMed ID
dgv4007n100 CNV gain 25217958
esv2660798 CNV deletion 23128226
esv3444058 CNV duplication 20981092
esv3583922 CNV loss 25503493
esv3591652 OTHER inversion 21293372
esv3591662 CNV gain 21293372
esv3591663 CNV loss 21293372
nsv1077884 CNV duplication 25765185
nsv1115571 CNV duplication 24896259
nsv1150837 CNV duplication 26484159
nsv1160825 CNV duplication 26073780

Variation tolerance for MAL Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAL Gene

Human Gene Mutation Database (HGMD)
MAL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAL Gene

Disorders for MAL Gene

MalaCards: The human disease database

(3) MalaCards diseases for MAL Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
metachromatic leukodystrophy
  • mld
fucosidosis
  • alpha-l-fucosidase deficiency
esophageal cancer
  • esophageal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search MAL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MAL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MAL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAL Gene

Publications for MAL Gene

  1. Alternative splicing of human T-cell-specific MAL mRNA and its correlation with the exon/intron organization of the gene. (PMID: 8088843) Rancaño C … Alonso MA (Genomics 1994) 3 4 22 58
  2. Genomic structure and subcellular localization of MAL, a human T-cell-specific proteolipid protein. (PMID: 8132541) Rancaño C … Alonso MA (The Journal of biological chemistry 1994) 3 4 22 58
  3. Elevated MAL expression is accompanied by promoter hypomethylation and platinum resistance in epithelial ovarian cancer. (PMID: 19642140) Lee PS … Murphy SK (International journal of cancer 2010) 3 22 58
  4. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58

Products for MAL Gene

Sources for MAL Gene

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