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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MLANA Gene

protein-coding   GIFtS: 56
GCID: GC09P005846

Melan-A

  See 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)
About This Section

Aliases
melan-A1 2     Protein Melan-A2 3
MART12 3 5     MART-12 3
Antigen LB39-AA2 3     Melanoma Antigen Recognized By T-Cells 12
Antigen SK29-AA2 3     

External Ids:    HGNC: 71241   Entrez Gene: 23152   Ensembl: ENSG000001202157   OMIM: 6055135   UniProtKB: Q166553   

Export aliases for MLANA gene to outside databases

Previous GC identifers: GC09P006044 GC09P005872 GC09P005880 GC09P005892


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MLANA Gene: 
MLANA (melan-A) is a protein-coding gene. Diseases associated with MLANA include meningeal melanocytoma, and juvenile xanthogranuloma. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: MAR1_HUMAN, Q16655
Function: Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the
expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation
of stage II melanosomes

Gene Wiki entry for MLANA 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MLANA gene promoter:
         C/EBPbeta   p53   CUTL1   AP-4   AREB6   GATA-6   POU2F1   POU2F1a   Chx10   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMLANA promoter sequence
   Search SABiosciences Chromatin IP Primers for MLANA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLANA


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

Entrez Gene cytogenetic band: 9p24.1   Ensembl cytogenetic band:  9p24.1   HGNC cytogenetic band: 9p24.1

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P005846:  view genomic region     (about GC identifiers)

Start:
5,890,802 bp from pter      End:
5,910,606 bp from pter
Size:
19,805 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MAR1_HUMAN, Q16655 (See protein sequence)
Recommended Name: Melanoma antigen recognized by T-cells 1  
Size: 118 amino acids; 13157 Da
Subunit: Interacts with PMEL. Interacts with GPR143
Subcellular location: Endoplasmic reticulum membrane; Single-pass type III membrane protein. Golgi apparatus.
Golgi apparatus, trans-Golgi network membrane. Melanosome. Note=Also found in small vesicles and tubules
dispersed over the entire cytoplasm. A small fraction of the protein is inserted into the membrane in an inverted
orientation. Inversion of membrane topology results in the relocalization of the protein from a predominant
Golgi/post-Golgi area to the endoplasmic reticulum. Melanoma cells expressing the protein with an inverted
membrane topology are more effectively recognized by specific cytolytic T-lymphocytes than those expressing the
protein in its native membrane orientation
6/10 PDB 3D structures from and Proteopedia for MLANA (see all 10):
2GT9 (3D)        2GTW (3D)        2GTZ (3D)        2GUO (3D)        3L6F (3D)        3MRO (3D)    
Secondary accessions: Q6ICU4

Explore the universe of human proteins at neXtProt for MLANA: NX_Q16655

Explore proteomics data for MLANA at MOPED 

Post-translational modifications:

  • UniProtKB: Acylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16655

  • MLANA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MLANA Protein Expression
    REFSEQ proteins: NP_005502.1  
    ENSEMBL proteins: 
     ENSP00000370886   ENSP00000370885   ENSP00000370880  

    Human Recombinant Protein Products for MLANA: 
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    Novus Biologicals MLANA Proteins
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    Cloud-Clone Corp. Proteins for MLANA 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IDA15695812
    GO:0005794Golgi apparatus IDA12191019
    GO:0005802trans-Golgi network IDA12191019
    GO:0005887integral to plasma membrane TAS8170938
    GO:0042470melanosome IDA15695812

    MLANA for ontologies           About GeneDecksing



    MLANA Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for MLANA 

    Assay Products for MLANA: 
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    Cloud-Clone Corp. ELISAs for MLANA 
    Cloud-Clone Corp. CLIAs for MLANA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q16655


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAR1_HUMAN, Q16655
    Function: Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the
    expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation
    of stage II melanosomes

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15695812
         
    MLANA for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mlana):
     integument  no phenotypic analysis  pigmentation 

    MLANA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mlanatm1.2Bee for MLANA

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MLANA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MLANA

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLANA
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate MLANA (see all 12):
    hsa-miR-21* hsa-miR-203 hsa-miR-1206 hsa-miR-548p hsa-miR-595 hsa-miR-1266 hsa-miR-3616-5p hsa-miR-3647-5p
    SwitchGear 3'UTR luciferase reporter plasmidMLANA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MLANA (NM_005511)
    Sino Biological Human cDNA Clone for MLANA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MLANA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MLANA
    Sirion Biotech Customized lentivirus for stable overexpression of MLANA 
                         Customized lentivirus expression plasmids for stable overexpression of MLANA 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLANA


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MLANA

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for MLANA (Q166552, 3 ENSP000003708804) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITCHQ96J022, 3, ENSP000003639984MINT-7889653 I2D: score=2 STRING: ENSP00000363998
    NEDD4P469342, 3, ENSP000003455304MINT-7889653 I2D: score=2 STRING: ENSP00000345530
    GPR143P518103, ENSP000003703164I2D: score=1 STRING: ENSP00000370316
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MLANA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MLANA (MAR1)

    4 Novoseek inferred chemical compound relationships for MLANA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraffin 37.8 3 16405409 (1), 19667333 (1), 15113392 (1)
    hematoxylin 29.1 2 12960803 (1), 16405409 (1)
    steroid 0 1 9422316 (1)
    lactate 0 1 16179868 (1)

    Search CenterWatch for drugs/clinical trials and news about MLANA / MAR1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MLANA gene: 
    NM_005511.1  

    Unigene Cluster for MLANA:

    Melan-A
    Hs.154069  [show with all ESTs]
    Unigene Representative Sequence: NM_005511
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381477(uc003zjo.1) ENST00000381476 ENST00000381471 ENST00000482341
    ENST00000490518
    miRNA
    Products:
         
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate MLANA (see all 12):
    hsa-miR-21* hsa-miR-203 hsa-miR-1206 hsa-miR-548p hsa-miR-595 hsa-miR-1266 hsa-miR-3616-5p hsa-miR-3647-5p
    SwitchGear 3'UTR luciferase reporter plasmidMLANA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MLANA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLANA
    Clone
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    GenScript: all cDNA clones in your preferred vector: MLANA (NM_005511)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MLANA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MLANA
    Sirion Biotech Customized lentivirus for stable overexpression of MLANA 
                         Customized lentivirus expression plasmids for stable overexpression of MLANA 
    Primer
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    OriGene qPCR primer pairs and template standards for MLANA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MLANA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLANA

    Additional mRNA sequence: 

    AK312149.1 BC014423.1 CR450299.1 U06452.1 U06654.1 

    8 DOTS entries:

    DT.114514  DT.441148  DT.92431925  DT.95259238  DT.95159375  DT.100685191  DT.91993863  DT.95159374 

    24/142 AceView cDNA sequences (see all 142):

    BX423914 NM_005511 BF725502 BM663875 BQ677630 BC014423 BQ677646 AI274604 
    BM548958 BM705061 N24796 BU155807 AI433774 N26562 AA233891 BQ678597 
    BU726393 BE891265 BQ435119 BU165857 CR623651 BI758036 BU195377 CR613373 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MLANA    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
    SP1:              -     -                             -                     
    SP2:                                                  -                     
    SP3:                    -                             -                     
    SP4:                                      -           -                     
    SP5:                                                                        


    ECgene alternative splicing isoforms for MLANA

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MLANA expression in normal human tissues (normalized intensities)      MLANA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAGGAAATG
    MLANA Expression
    About this image


    MLANA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Melanocytes (Integumentary System)    fully expand to see all 4 entries
             skin ; melanocytes   
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Adrenal Gland (Endocrine System)
             adrenal gland ; glandular cells   
     
     Brain (Nervous System)
             Cerebral Cortex

    See MLANA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MLANA

    SOURCE GeneReport for Unigene cluster: Hs.154069

    UniProtKB/Swiss-Prot: MAR1_HUMAN, Q16655
    Tissue specificity: Expression is restricted to melanoma and melanocyte cell lines and retina

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLANA

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MLANA gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mlana1 , 5 melan-A1, 5 77.58(n)1
    71.68(a)1
      19 (24.28 cM)5
    778361  NM_029993.11  NP_084269.11 
     296979415 
    chicken
    (Gallus gallus)
    Aves MLANA1 melan-A 60.71(n)
    51.79(a)
      769648  XM_001232042.2  XP_001232043.1 
    lizard
    (Anolis carolinensis)
    Reptilia MLANA6
    melan-A
    44(a)
    1 ↔ 1
    2(52507620-52516853)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/437 SNPs in MLANA are shown (see all 437)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs733953571,2
    C,F--5888971(+) AGTGGC/TTGGTC 1 -- us2k15Minor allele frequency- T:0.20WA NA 244
    rs1155968121,2
    C,F--5889015(+) AACTTG/CCACCG 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs1927477341,2
    --5889068(+) ATCCAC/TTACAT 1 -- us2k10--------
    rs64770181,2
    C,F,A--5889099(+) ccattA/Gtatct 1 -- us2k17Minor allele frequency- G:0.13NA WA EA 366
    rs1844911271,2
    --5889137(+) TTGCAC/TCGAAT 1 -- us2k10--------
    rs751859131,2
    C,F--5889205(+) CACCTA/GACCAC 1 -- us2k12Minor allele frequency- G:0.03WA 120
    rs1170135801,2
    F--5889210(+) AACCAC/AATGTC 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs1467621101,2
    --5889405(+) TGAAGC/TATGAA 1 -- us2k10--------
    rs586416351,2
    C--5889561(+) GCAGGC/TGGATC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1878133751,2
    --5889590(+) GACCAC/TCCTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MLANA (5890802 - 5910606 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MLANA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6464CNV Insertion18451855
    nsv892156CNV Gain21882294
    nsv892155CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MLANA
    DNA2.0 Custom Variant and Variant Library Synthesis for MLANA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605513    OMIM disorders: --

    20/45 diseases for MLANA (see all 45):    About MalaCards
    meningeal melanocytoma    juvenile xanthogranuloma    lentigo maligna melanoma    retroperitoneal sarcoma
    superficial spreading melanoma    translocation renal cell carcinoma    posterior uveal melanoma    melanoma of soft part
    clear cell sarcoma    granular cell tumor    angiomyolipoma    cutaneous malignant melanoma
    perivascular epithelioid cell tumor    nephroblastoma    lichen sclerosus    noma
    sertoli-leydig cell tumor    vitiligo    lymphangioleiomyomatosis    sertoli cell tumor

    9 diseases from the University of Copenhagen DISEASES database for MLANA:
    Melanoma     Perivascular epithelioid cell tumor     Angiomyolipoma     Microphthalmia
    Lymphangioleiomyomatosis     Sarcoma     Leiomyosarcoma     Vitiligo
    Skin cancer

    MLANA for disorders           About GeneDecksing

    10/26 Novoseek inferred disease relationships for MLANA gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 86.5 199 12735792 (5), 12472287 (4), 11169510 (4), 10360670 (3) (see all 99)
    metastatic melanoma 84.5 10 17414440 (1), 10803712 (1), 12843797 (1), 11511319 (1) (see all 9)
    microphthalmia 71.5 14 11145253 (5), 12472287 (1), 11803278 (1), 15731577 (1) (see all 9)
    stage iii melanoma 70.9 1 12829676 (1)
    nevi melanocytic 70.6 6 10871066 (3), 10688724 (2), 9706977 (1)
    nevi 68.1 9 20142539 (2), 9706977 (2), 15141316 (1), 11493377 (1) (see all 6)
    vitiligo 64.1 9 11979069 (3), 16778827 (1), 16260696 (1), 9672845 (1) (see all 6)
    tumors 57.5 54 12649671 (3), 11145253 (2), 10688724 (2), 12472287 (1) (see all 43)
    angiomyolipoma 57.1 11 11145253 (4), 10389626 (2), 11914628 (2), 17227112 (1)
    granular cell tumor 52.4 1 17284958 (1)

    Genetic Association Database (GAD): MLANA
    Human Genome Epidemiology (HuGE) Navigator: MLANA (1 document)

    Export disorders for MLANA 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)
    About This Section

    PubMed articles for MLANA gene, integrated from 9 sources (see all 255):
    (articles sorted by number of sources associating them with MLANA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the gene coding for a shared human melanoma antigen recognized by autologous T cells infiltrating into tumor. (PubMed id 8170938)1, 2, 9 Kawakami Y.... Rosenberg S.A. (1994)
    2. Genome-wide meta-analysis identifies novel multiple sc lerosis susceptibility loci. (PubMed id 22190364)1, 4 Patsopoulos N.A....de Bakker P.I. (2011)
    3. Structural basis for the presentation of tumor-associ ated MHC class II-restricted phosphopeptides to CD4+ T cells. (PubMed id 20417641)1, 2 Li Y....Mariuzza R.A. (2010)
    4. The ocular albinism type 1 (OA1) G-protein-coupled re ceptor functions with MART-1 at early stages of melanogenesis to control melano some identity and composition. (PubMed id 19717472)1, 2 Giordano F....Raposo G. (2009)
    5. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PubMed id 19320733)1, 4 Fernandez L.P....Ribas G. (2009)
    6. MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes. (PubMed id 15695812)1, 2 Hoashi T....Hearing V.J. (2005)
    7. 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. (2004)
    8. The melanocytic protein Melan-A/MART-1 has a subcellular localization distinct from typical melanosomal proteins. (PubMed id 12191019)1, 2 De Maziere A.M.... Rimoldi D. (2002)
    9. A new gene coding for a differentiation antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas. (PubMed id 8006593)1, 2 Coulie P.G.... Boon T. (1994)
    10. Differential expression of melanocytic markers in myoid, lipomatous, and vascular components of renal angiomyolipomas. (PubMed id 17227112)1, 9 Roma A.A....Zhou M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2315 HGNC: 7124 AceView: MLANA Ensembl:ENSG00000120215 euGenes: HUgn2315
    ECgene: MLANA H-InvDB: MLANA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MLANA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MLANA Genetics and Cytogenetics in Oncology and Haematology

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

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



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