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STARD6 Gene

protein-coding   GIFtS: 49
GCID: GC18M051850

StAR-Related Lipid Transfer (START) Domain Containing 6

(Previous name: START domain containing 6)
  Search for STARD6
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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Aliases
StAR-Related Lipid Transfer (START) Domain Containing 61 2
START Domain Containing 61 2
START Domain-Containing Protein 62 3
StAR-Related Lipid Transfer Protein 62
StARD63

External Ids:    HGNC: 180661   Entrez Gene: 1473232   Ensembl: ENSG000001744487   OMIM: 6070515   UniProtKB: P590953   

Export aliases for STARD6 gene to outside databases

Previous GC identifers: GC18M052021 GC18M051786 GC18M050103 GC18M050105 GC18M048706


(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 STARD6 Gene:
Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g.,
SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive
and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol
biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as
steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing
a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002
(PubMed 12011452)).(supplied by OMIM, Mar 2008)

GeneCards Summary for STARD6 Gene:
STARD6 (StAR-related lipid transfer (START) domain containing 6) is a protein-coding gene. GO annotations related to this gene include lipid binding. An important paralog of this gene is STARD4.

UniProtKB/Swiss-Prot: STAR6_HUMAN, P59095
Function: May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other
sterols (By similarity)




(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_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the STARD6 gene promoter:
         TBP   AML1a   Nkx2-2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   CUTL1   STAT5A   POU3F2   GATA-1   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTARD6 promoter sequence
   Search Chromatin IP Primers for STARD6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STARD6


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

Entrez Gene cytogenetic band: 18q21.2   Ensembl cytogenetic band:  18q21.2   HGNC cytogenetic band: 18q21.2

STARD6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STARD6 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M051850:  view genomic region     (about GC identifiers)

Start:
51,850,728 bp from pter      End:
51,884,334 bp from pter
Size:
33,607 bases      Orientation:
minus 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: STAR6_HUMAN, P59095 (See protein sequence)
Recommended Name: StAR-related lipid transfer protein 6  
Size: 220 amino acids; 25022 Da

Explore the universe of human proteins at neXtProt for STARD6: NX_P59095

Explore proteomics data for STARD6 at MOPED


See STARD6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_631910.1  
ENSEMBL proteins: 
 ENSP00000463611   ENSP00000462349   ENSP00000464406   ENSP00000464377   ENSP00000310814  
Reactome Protein details: P59095

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(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

2 InterPro protein domains:
 IPR023393 START-like_dom
 IPR002913 START_lipid-bd_dom

Graphical View of Domain Structure for InterPro Entry P59095

ProtoNet protein and cluster: P59095

UniProtKB/Swiss-Prot: STAR6_HUMAN, P59095
Similarity: Contains 1 START domain


Find genes that share domains with STARD6           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: STAR6_HUMAN, P59095
Function: May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other
sterols (By similarity)

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008289lipid binding IEA--
     
Find genes that share ontologies with STARD6           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for STARD6:
 Decreased viability with pacli  Synthetic lethal with Ras 

Animal Models:
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(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 COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1

(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 STARD6 About    
See pathways by source

SuperPathContained pathways About
1Metabolism
Metabolism0.38
Metabolism of lipids and lipoproteins0.37
2Metabolism of steroid hormones and vitamin D
Pregnenolone biosynthesis0.00
Metabolism of steroid hormones and vitamin D


Find genes that share SuperPaths with STARD6           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Reactome Pathway for STARD6
    Pregnenolone biosynthesis


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Interactions:

    Search GeneGlobe Interaction Network for STARD6

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006869lipid transport IEA--

Find genes that share ontologies with STARD6           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 STARD6 (STAR6)



(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 STARD6 gene: 
NM_139171.1  

Unigene Cluster for STARD6:

StAR-related lipid transfer (START) domain containing 6
Hs.438779  [show with all ESTs]
Unigene Representative Sequence: DB456341
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000580990 ENST00000581310 ENST00000577499 ENST00000584040 ENST00000307844(uc010xdt.2)

miRNA
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Additional mRNA sequence: AF480305.1 

4 DOTS entries:

DT.97825299  DT.40203344  DT.40306660  DT.107695 

10 AceView cDNA sequences:

NM_139171 BX281825 AF480305 BX119548 AA813687 AW873635 AI215441 AA968431 
BQ435863 AI914982 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for STARD6    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6
SP1:        -                                 
SP2:                                -         


ECgene alternative splicing isoforms for STARD6

(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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STARD6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
STARD6 Expression
About this image

STARD6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

STARD6 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.438779
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STARD6

(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 STARD6 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Stard61 , 5 StAR-related lipid transfer (START) domain containing more1, 5 81.43(n)1
71.69(a)1
  18 (44.44 cM)5
1704611  NM_029019.31  NP_083295.11 
 704724545 
lizard
(Anolis carolinensis)
Reptilia STARD66
StAR-related lipid transfer (START) domain contain...
41(a)
1 ↔ 1
GL343213.1(130231-144688)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004967741 stAR-related lipid transfer protein 6-like 59.97(n)
50.49(a)
  100496774  XM_002934431.2  XP_002934477.2 


ENSEMBL Gene Tree for STARD6 (if available)
TreeFam Gene Tree for STARD6 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for STARD6 gene
STARD42  STARD52  
3 SIMAP similar genes for STARD6 using alignment to 3 protein entries:     STAR6_HUMAN (see all proteins):
DDX39A    STARD5    STARD4

Find genes that share paralogs with STARD6           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 STARD6 (see all 549)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 18 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1883613181,2
--51850726(+) TTAAAA/GTGTAT 1 -- ds50010--------
rs1817636921,2
--51850831(+) ATATAC/TTAATA 1 -- ds50010--------
rs734879391,2
C,F--51850840(+) TAACAC/TTTATT 1 -- ds50013Minor allele frequency- T:0.03WA CSA 122
rs1403398571,2
--51850850(+) TTAACA/GTCATT 1 -- ds50010--------
rs1864654941,2
C--51850874(+) AAAAAC/TGGTAT 1 -- ds50010--------
rs1140751161,2
C,F--51850947(+) TACAAG/AAATAC 1 -- ds50011Minor allele frequency- A:0.04WA 118
rs1998183191,2
--51851018(+) CTACTA/GCACAT 1 -- ds50010--------
rs1478312741,2
C,F--51851090(+) ATCCAC/TGTCTT 2 H R mis12Minor allele frequency- T:0.00NA EU 5867
rs1181230681,2
C,F--51851415(+) TTTAGG/TCACCA 1 -- int11Minor allele frequency- T:0.03NA 120
rs1452734051,2
--51851598(+) CGCGTA/GACTAT 1 -- int10--------

HapMap Linkage Disequilibrium report for STARD6 (51850728 - 51884334 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for STARD6:    About this table    
Variant IDTypeSubtypePubMed ID
esv2670481CNV Deletion23128226
esv2717126CNV Deletion23290073
esv2717127CNV Deletion23290073

Human Gene Mutation Database (HGMD): STARD6
Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607051    OMIM disorders: --


Find genes that share disorders with STARD6           About GenesLikeMe

Genetic Association Database (GAD): STARD6
Human Genome Epidemiology (HuGE) Navigator: STARD6 (3 documents)

Export disorders for STARD6 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 STARD6 gene integrated from 10 sources:
(articles sorted by number of sources associating them with STARD6)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6. (PubMed id 12011452)1, 2, 3 Soccio R.E....Breslow J.L. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  2. 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)
  3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
  4. StAR-like activity and molten globule behavior of StARD6, a male germ-line protein. (PubMed id 18211099)9 Bose H.S....Miller W.L. (Biochemistry 2008)
  5. Human StarD5, a cytosolic StAR-related lipid binding protein. (PubMed id 15897605)9 Rodriguez-Agudo D....Pandak W.M. (J. Lipid Res. 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
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: 147323 HGNC: 18066 AceView: STARD6 Ensembl:ENSG00000174448 euGenes: HUgn147323
ECgene: STARD6 H-InvDB: STARD6

(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 STARD6 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for STARD6 gene:
Search GeneIP for patents involving STARD6

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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Search Tocris compounds for STARD6 (STAR6)
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STARD6
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 Search Addgene for plasmids for STARD6
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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