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 media... See more...

Aliases for STARD6 Gene

Aliases for STARD6 Gene

  • StAR Related Lipid Transfer Domain Containing 6 2 3 5
  • StAR-Related Lipid Transfer Protein 6 3 4
  • START Domain-Containing Protein 6 3 4
  • START Domain Containing 6 2 3
  • StAR-Related Lipid Transfer (START) Domain Containing 6 3
  • STARD6 5
  • StARD6 4

External Ids for STARD6 Gene

Previous GeneCards Identifiers for STARD6 Gene

  • GC18M052021
  • GC18M051786
  • GC18M050103
  • GC18M050105
  • GC18M048706
  • GC18M051850

Summaries for STARD6 Gene

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 Domain Containing 6) is a Protein Coding gene. Among its related pathways are Metabolism of steroid hormones and Metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is STARD5.

UniProtKB/Swiss-Prot Summary for STARD6 Gene

  • May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STARD6 Gene

Genomics for STARD6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STARD6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STARD6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STARD6

Top Transcription factor binding sites by QIAGEN in the STARD6 gene promoter:
  • AML1a
  • CUTL1
  • GATA-1
  • Nkx2-2
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha2
  • STAT5A
  • TBP

Genomic Locations for STARD6 Gene

Latest Assembly
chr18:54,324,358-54,357,964
(GRCh38/hg38)
Size:
33,607 bases
Orientation:
Minus strand

Previous Assembly
chr18:51,850,862-51,884,228
(GRCh37/hg19 by Entrez Gene)
Size:
33,367 bases
Orientation:
Minus strand

chr18:51,850,728-51,884,334
(GRCh37/hg19 by Ensembl)
Size:
33,607 bases
Orientation:
Minus strand

Genomic View for STARD6 Gene

Genes around STARD6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STARD6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STARD6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STARD6 Gene

Proteins for STARD6 Gene

  • Protein details for STARD6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59095-STAR6_HUMAN
    Recommended name:
    StAR-related lipid transfer protein 6
    Protein Accession:
    P59095

    Protein attributes for STARD6 Gene

    Size:
    220 amino acids
    Molecular mass:
    25022 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for STARD6 Gene

neXtProt entry for STARD6 Gene

Post-translational modifications for STARD6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STARD6 Gene

No data available for DME Specific Peptides for STARD6 Gene

Domains & Families for STARD6 Gene

Gene Families for STARD6 Gene

Protein Domains for STARD6 Gene

Suggested Antigen Peptide Sequences for STARD6 Gene

GenScript: Design optimal peptide antigens:
  • START domain-containing protein 6 (STAR6_HUMAN)
genes like me logo Genes that share domains with STARD6: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for STARD6 Gene

Function for STARD6 Gene

Molecular function for STARD6 Gene

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

Phenotypes From GWAS Catalog for STARD6 Gene

Gene Ontology (GO) - Molecular Function for STARD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with STARD6: view
genes like me logo Genes that share phenotypes with STARD6: view

miRNA for STARD6 Gene

miRTarBase miRNAs that target STARD6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STARD6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for STARD6 Gene

Localization for STARD6 Gene

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 STARD6 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for STARD6 Gene

Pathways & Interactions for STARD6 Gene

genes like me logo Genes that share pathways with STARD6: view

Pathways by source for STARD6 Gene

Gene Ontology (GO) - Biological Process for STARD6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
genes like me logo Genes that share ontologies with STARD6: view

No data available for SIGNOR curated interactions for STARD6 Gene

Drugs & Compounds for STARD6 Gene

No Compound Related Data Available

Transcripts for STARD6 Gene

mRNA/cDNA for STARD6 Gene

3 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STARD6

Alternative Splicing Database (ASD) splice patterns (SP) for STARD6 Gene

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

Relevant External Links for STARD6 Gene

GeneLoc Exon Structure for
STARD6

Expression for STARD6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STARD6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STARD6 Gene

This gene is overexpressed in Testis (x38.7).

Protein differential expression in normal tissues from HIPED for STARD6 Gene

This gene is overexpressed in Fetal gut (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for STARD6 Gene



Protein tissue co-expression partners for STARD6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STARD6

SOURCE GeneReport for Unigene cluster for STARD6 Gene:

Hs.438779
genes like me logo Genes that share expression patterns with STARD6: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for STARD6 Gene

Orthologs for STARD6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STARD6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STARD6 30 31
  • 99.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia STARD6 30 31
  • 87.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STARD6 30 31
  • 85.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Stard6 30 17 31
  • 81.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stard6 30
  • 80.52 (n)
Oppossum
(Monodelphis domestica)
Mammalia STARD6 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STARD6 31
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STARD6 31
  • 41 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496774 30
  • 59.97 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
Species where no ortholog for STARD6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for STARD6 Gene

ENSEMBL:
Gene Tree for STARD6 (if available)
TreeFam:
Gene Tree for STARD6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STARD6: view image

Paralogs for STARD6 Gene

Paralogs for STARD6 Gene

(3) SIMAP similar genes for STARD6 Gene using alignment to 3 proteins:

  • STAR6_HUMAN
  • J3QLL9_HUMAN
  • J3QRT9_HUMAN
genes like me logo Genes that share paralogs with STARD6: view

Variants for STARD6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STARD6 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs2917782 - p.Glu159Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STARD6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for STARD6 Gene

Variant ID Type Subtype PubMed ID
esv2670481 CNV deletion 23128226
esv2717126 CNV deletion 23290073
esv2717127 CNV deletion 23290073
esv3555418 CNV deletion 23714750
esv3642579 CNV loss 21293372
nsv962973 CNV deletion 23825009

Variation tolerance for STARD6 Gene

Residual Variation Intolerance Score: 82.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STARD6 Gene

Human Gene Mutation Database (HGMD)
STARD6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STARD6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STARD6 Gene

Disorders for STARD6 Gene

Additional Disease Information for STARD6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for STARD6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STARD6 Gene

Publications for STARD6 Gene

  1. The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6. (PMID: 12011452) Soccio RE … Breslow JL (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4
  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. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. STARD6 on steroids: solution structure, multiple timescale backbone dynamics and ligand binding mechanism. (PMID: 27340016) Létourneau D … Lavigne P (Scientific reports 2016) 3
  4. Genetic association of STARD6 polymorphisms with Alzheimer's disease in a Korean population. (PMID: 27288785) Kim YJ … Park JK (Journal of the neurological sciences 2016) 3
  5. The StarD4 subfamily of steroidogenic acute regulatory-related lipid transfer (START) domain proteins: new players in cholesterol metabolism. (PMID: 24440759) Calderon-Dominguez M … Rodríguez-Agudo D (The international journal of biochemistry & cell biology 2014) 3

Products for STARD6 Gene

Sources for STARD6 Gene