• Gene id: 147323

Gene Summary

• Gene Symbol: STARD6   Gene   UCSC   Ensembl
• Gene name: StAR related lipid transfer domain containing 6
• Alternate names: stAR-related lipid transfer protein 6, START domain containing 6, START domain-containing protein 6, StAR-related lipid transfer (START) domain containing 6,
• Gene location: 18q21.2 (54357857: 54324491)     Exons: 8     NC_000018.10
• Gene summary(Entrez): 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, afte
• OMIM: 607051

Protein Summary

• Protein general information: P59095  
  • Name: StAR related lipid transfer protein 6 (START domain containing protein 6) (StARD6)
  • Length: 220  
  • Mass: 25022
• Sequence:

  MDFKAIAQQTAQEVLGYNRDTSGWKVVKTSKKITVSSKASRKFHGNLYRVEGIIPESPAKLSDFLYQTGDRITWD
  KSLQVYNMVHRIDSDTFICHTITQSFAVGSISPRDFIDLVYIKRYEGNMNIISSKSVDFPEYPPSSNYIRGYNHP
  CGFVCSPMEENPAYSKLVMFVQTEMRGKLSPSIIEKTMPSNLVNFILNAKDGIKAHRTPSRRGFHHNSHS

• Structural information:
  • Protein Domains: (1..20-)
    (/note="START-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00197"-)
  • Interpro: IPR023393  IPR002913  
  • Prosite: PS50848
  • PDB: 2MOU
  • PDBsum: 2MOU
  • STRING: ENSP00000462349
• Other Databases: GeneCards:  STARD6  Malacards:  STARD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008289	lipid binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenoozoospermia	MIK: 32167074
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
32167074	Asthenoozoospermia			12 (6controls, 6 cases)	Male infertility	Microarray