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STARD3 Gene

protein-coding   GIFtS: 50
GCID: GC17P037793

StAR-Related Lipid Transfer (START) Domain Containing 3

(Previous name: START domain containing 3)
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(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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Aliases
StAR-Related Lipid Transfer (START) Domain Containing 31 2     es642
MLN642 3 5     Metastatic Lymph Node Protein 642
Metastatic Lymph Node Gene 64 Protein2 3     StAR-Related Lipid Transfer Protein 32
CAB12 3     Steroidogenic Acute Regulatory Protein Related2
MLN 642 3     StARD33
START Domain-Containing Protein 32 3     Protein CAB13
START Domain Containing 31     

External Ids:    HGNC: 175791   Entrez Gene: 109482   Ensembl: ENSG000001317487   OMIM: 6070485   UniProtKB: Q148493   

Export aliases for STARD3 gene to outside databases

Previous GC identifers: GC17P037292 GC17P039791 GC17P037703 GC17P038168 GC17P035046 GC17P033587


(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 STARD3 Gene:
This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal
steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein
localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing
results in multiple transcript variants.(provided by RefSeq, Oct 2009)

GeneCards Summary for STARD3 Gene:
STARD3 (StAR-related lipid transfer (START) domain containing 3) is a protein-coding gene. GO annotations related to this gene include cholesterol binding and cholesterol transporter activity. An important paralog of this gene is STARD3NL.

UniProtKB/Swiss-Prot: STAR3_HUMAN, Q14849
Function: Binds and transports cholesterol. Promotes steroidogenesis in placenta and brain




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the STARD3 gene promoter:
         Oct-B1   oct-B3   Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTARD3 promoter sequence
   Search Chromatin IP Primers for STARD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STARD3


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

Entrez Gene cytogenetic band: 17q11-q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q11-q12

STARD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STARD3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P037793:  view genomic region     (about GC identifiers)

Start:
37,793,318 bp from pter      End:
37,820,454 bp from pter
Size:
27,137 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: STAR3_HUMAN, Q14849 (See protein sequence)
Recommended Name: StAR-related lipid transfer protein 3  
Size: 445 amino acids; 50502 Da
Subunit: Can form homodimers. Interacts with STARD3NL
2 PDB 3D structures from and Proteopedia for STARD3:
1EM2 (3D)        2I92 (3D)    
Secondary accessions: A8MXA4 B4DUY1 F5H0G2 Q53Y53 Q96HM9
Alternative splicing: 3 isoforms:  Q14849-1   Q14849-2   Q14849-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for STARD3: NX_Q14849

Explore proteomics data for STARD3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See STARD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001159409.1  NP_001159410.1  NP_006795.3  

    ENSEMBL proteins: 
     ENSP00000337446   ENSP00000439869   ENSP00000462859   ENSP00000464472   ENSP00000377794  
     ENSP00000462483   ENSP00000463460   ENSP00000463613   ENSP00000464204   ENSP00000462541  
     ENSP00000463681   ENSP00000411710   ENSP00000464288  

    STARD3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for STARD3
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    Novus Biologicals STARD3 Proteins
    Novus Biologicals STARD3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for STARD3

     
    Search eBioscience for Proteins for STARD3 

    STARD3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    STARD3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for STARD3
    Cloud-Clone Corp. CLIAs for STARD3
    Search eBioscience for ELISAs for STARD3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    StARD: StAR-related lipid transfer (START) domain containing

    4 InterPro protein domains:
     IPR000799 StAR
     IPR023393 START-like_dom
     IPR002913 START_lipid-bd_dom
     IPR019498 MENTAL

    Graphical View of Domain Structure for InterPro Entry Q14849

    ProtoNet protein and cluster: Q14849

    2 Blocks protein domains:
    IPB000799 Steroidogenic acute regulatory protein signature
    IPB002913 Lipid-binding START


    UniProtKB/Swiss-Prot: STAR3_HUMAN, Q14849
    Similarity: Contains 1 MENTAL domain
    Similarity: Contains 1 START domain


    Find genes that share domains with STARD3           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: STAR3_HUMAN, Q14849
    Function: Binds and transports cholesterol. Promotes steroidogenesis in placenta and brain

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008289lipid binding ----
    GO:0015485cholesterol binding IDA12011453
    GO:0017127cholesterol transporter activity IEA--
         
    Find genes that share ontologies with STARD3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for STARD3:
     G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Stard3):
     homeostasis/metabolism  liver/biliary system 

    Find genes that share phenotypes with STARD3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Stard3tm1Jfs for STARD3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STARD3
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for STARD3

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate STARD3 (see all 14):
    hsa-miR-30c hsa-miR-4265 hsa-miR-1321 hsa-miR-520d-5p hsa-miR-30d hsa-miR-504 hsa-miR-30a hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidSTARD3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for STARD3
    Predesigned siRNA for gene silencing in human, mouse, rat STARD3

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): STARD3 (NM_006804)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STARD3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STARD3


    (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
    STAR3_HUMAN, Q14849: Late endosome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane3
    peroxisome2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS9139840
    GO:0005739mitochondrion IEA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005768endosome ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with STARD3           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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    SuperPaths for STARD3 About    
    See pathways by source

    SuperPathContained pathways About
    1Cholesterol and Sphingolipids transport Distribution to the intracellular membrane compartments normal and CF
    Cholesterol and Sphingolipids transport Distribution to the intracellular membrane compartments normal and CF

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for STARD3
        Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)


        Pathway & Disease-focused RT2 Profiler PCR Arrays including STARD3: 
              Mitochondria in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for STARD3

    1 Interacting protein for STARD3 (Q148493) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MPIP349493I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS7490069
    GO:0006694steroid biosynthetic process ----
    GO:0006701progesterone biosynthetic process IEA--
    GO:0006839mitochondrial transport TAS9270027
    GO:0008202steroid metabolic process TAS9139840

    Find genes that share ontologies with STARD3           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 STARD3 (STAR3)

    5 Novoseek inferred chemical compound relationships for STARD3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 63.5 9 15930133 (3), 19272380 (2), 12398991 (2)
    cholesterol 59.9 47 11053434 (6), 12070139 (5), 16709157 (4), 16549269 (3) (see all 15)
    steroid 36.9 4 9237999 (2), 16549269 (1)
    lipid 33 4 12070139 (1), 11053434 (1), 12398991 (1), 16709157 (1)
    progesterone 21.7 2 15511223 (1), 15823613 (1)



    Find genes that share compounds with STARD3           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 STARD3 gene (3 alternative transcripts): 
    NM_001165937.1  NM_001165938.1  NM_006804.3  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000336308(uc010wei.2 uc002hsd.3 uc002hse.3 uc010weh.2)
    ENST00000578232 ENST00000580551 ENST00000578254 ENST00000544210 ENST00000581894
    ENST00000583582(uc010weg.2) ENST00000578577 ENST00000394250 ENST00000579479
    ENST00000577248 ENST00000580611 ENST00000585214 ENST00000583718 ENST00000580331
    ENST00000583419 ENST00000484773 ENST00000488876(uc002hsf.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat STARD3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STARD3 (see all 14):
    hsa-miR-30c hsa-miR-4265 hsa-miR-1321 hsa-miR-520d-5p hsa-miR-30d hsa-miR-504 hsa-miR-30a hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidSTARD3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat STARD3
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): STARD3 (NM_006804)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STARD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STARD3
    Primer
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    OriGene qPCR primer pairs and template standards for STARD3
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STARD3
      QuantiTect SYBR Green Assays in human, mouse, rat STARD3
      QuantiFast Probe-based Assays in human, mouse, rat STARD3

    Selected AceView cDNA sequences (see all 581):

    BU626412 C05588 F16422 CA306244 CB043969 F29602 BU189234 F19621 
    BU740777 CR604890 BM768106 BM987938 BF478048 BG319526 BM720992 AI140550 
    NM_006804 F24210 AW731937 CB105314 BM727216 F31232 BX114641 AI208683 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for STARD3 (see all 24)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^
    SP1:                                      -     -     -     -     -                                   -     -                             -           -     -   
    SP2:                                      -     -     -     -     -                                   -     -                             -           -     -   
    SP3:                                      -     -     -     -     -                                   -     -                       -     -           -     -   
    SP4:                                            -     -     -     -                                   -     -                             -           -     -   
    SP5:                                                  -     -     -                                   -     -                             -           -     -   

    ExUns: 9a · 9b · 9c · 9d · 9e · 9f · 9g ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a ·
    SP1:                                -     -     -                       -                       -     -                 -                             -         
    SP2:                                -     -     -     -     -     -     -                                                                                       
    SP3:                                -     -     -                                                                                                               
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 17b ^ 18
    SP1:  -         
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for STARD3

    (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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    STARD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTTAAAAA
    STARD3 Expression
    About this image


    STARD3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    STARD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STARD3 Protein Expression
        Pathway & Disease-focused RT2 Profiler PCR Arrays including STARD3: 
              Mitochondria in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat STARD3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STARD3

    (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 animals.

    Orthologs for STARD3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stard31 , 5 START domain containing 31, 5 88.39(n)1
    93.71(a)1
      11 (61.75 cM)5
    590451  NM_021547.31  NP_067522.11 
     983583685 
    chicken
    (Gallus gallus)
    Aves STARD31 StAR-related lipid transfer (START) domain containing 3 less 76.37(n)
    81.49(a)
      770436  XM_001232167.3  XP_001232168.1 
    lizard
    (Anolis carolinensis)
    Reptilia STARD36
    StAR-related lipid transfer (START) domain contain...
    75(a)
    1 ↔ 1
    6(68208253-68253854)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689892 hypothetical protein MGC68989 75.96(n)    BC057738.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mln64-pen2 mln64-like protein (pending) 73.75(n)   63998  BC056766.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Start11 Start1 48.85(n)
    35.64(a)
      37927  NM_138092.2  NP_611936.2 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-3401 tag-340 41.76(n)
    30.65(a)
      175655  NM_065626.4  NP_498027.2 


    ENSEMBL Gene Tree for STARD3 (if available)
    TreeFam Gene Tree for STARD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STARD3 gene
    STARD3NL2  STAR2  
    2 SIMAP similar genes for STARD3 using alignment to 11 protein entries:     STAR3_HUMAN (see all proteins):
    STARD3NL    STAR

    Find genes that share paralogs with STARD3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for STARD3
    PGOHUM00000238814


    (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 STARD3 (see all 591)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs75038431,2
    C,F--37793388(+) CGCTGC/TCGGAA 3 -- ut51 ese34Minor allele frequency- T:0.38NA WA 8
    rs1493857871,2
    C--37793396(+) GAAGA-/TCTTCTTC 3 -- cds10--------
    rs3759039881,2
    C--37793437(+) GCCGGA/GCTGCG 3 -- ut510--------
    rs594380001,2
    C,F--37793555(+) GCTTCG/CCCGCC 3 -- int14Minor allele frequency- C:0.24NA WA 124
    rs755488111,2
    F--37793657(+) CGCGGG/TTTGGG 3 -- int11Minor allele frequency- T:0.07WA 118
    rs38171601,2
    C,F--37793815(-) ATTCCC/GACCCC 3 -- int111Minor allele frequency- G:0.44EA NA WA CSA 1830
    rs1167411201,2
    F--37793869(+) TCTCAG/CTGTCA 3 -- int11Minor allele frequency- C:0.07WA 118
    rs1843332361,2
    --37793894(+) AACTTC/GCTTTC 3 -- int10--------
    rs1888821951,2
    --37793945(+) CCCTTA/TGAAGT 3 -- int10--------
    rs728271741,2
    C,F--37794033(+) AGTCAA/GTGTCT 3 -- int11Minor allele frequency- G:0.11NA 120

    HapMap Linkage Disequilibrium report for STARD3 (37793318 - 37820454 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for STARD3 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2047CNV Insertion18451855
    nsv908207CNV Loss21882294
    nsv528093CNV Loss19592680
    nsv457738CNV Loss19166990
    dgv3162n71CNV Loss21882294
    nsv908213CNV Loss21882294
    nsv521294CNV Loss19592680
    dgv40n68CNV Loss17160897
    nsv908214CNV Loss21882294
    nsv516757CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STARD3
    DNA2.0 Custom Variant and Variant Library Synthesis for STARD3

    (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: 607048    OMIM disorders: --


    Find genes that share disorders with STARD3           About GenesLikeMe

    4 Novoseek inferred disease relationships for STARD3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast carcinoma 33.7 5 9139840 (4), 9237999 (1)
    breast cancer 3.62 3 12802284 (3)
    tumors 0 4 17592021 (2), 9139840 (1), 12802284 (1)
    cancer 0 2 12802284 (1)

    Genetic Association Database (GAD): STARD3
    Human Genome Epidemiology (HuGE) Navigator: STARD3 (5 documents)

    Export disorders for STARD3 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 STARD3 gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with STARD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol-binding protein. (PubMed id 11053434)1, 2, 9 Alpy F.... Rio M.-C. (J. Biol. Chem. 2001)
    2. MLN64 and MENTHO, two mediators of endosomal cholesterol transport. (PubMed id 16709157)1, 2, 9 Alpy F. and Tomasetto C. (Biochem. Soc. Trans. 2006)
    3. Isolation of a candidate gene, CAB1, for cholesterol transport to mitochondria from the c-ERBB-2 amplicon by a modified cDNA selection method. (PubMed id 9270027)1, 2, 9 Akiyama N.... Terada M. (Cancer Res. 1997)
    4. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (Nature 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. (PubMed id 19124506)1, 4 Mavaddat N....Pharoah P.D. (amp 2009)
    7. HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer. (PubMed id 17117180)1, 4 Benusiglio P.R....Ponder B.A. (Br. J. Cancer 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. Structure and lipid transport mechanism of a StAR-related domain. (PubMed id 10802740)1, 2 Tsujishita Y. and Hurley J.H. (Nat. Struct. Biol. 2000)

    (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: 10948 HGNC: 17579 AceView: TCAPandSTARD3 Ensembl:ENSG00000131748 euGenes: HUgn10948
    ECgene: STARD3 H-InvDB: STARD3

    (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 STARD3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for STARD3 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 STARD3 gene:
    Search GeneIP for patents involving STARD3

    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, 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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