◎ Sugi Atlas

Atlas / Gene / STARD6

STARD6

gene
On this page

Summary

STARD6 (StAR related lipid transfer domain containing 6, HGNC:18066) is a protein-coding gene on chromosome 18q21.2, encoding StAR-related lipid transfer protein 6 (P59095). May be involved in the intracellular transport of sterols or other lipids.

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]).

Source: NCBI Gene 147323 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 32 total
  • MANE Select transcript: NM_139171

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18066
Approved symbolSTARD6
NameStAR related lipid transfer domain containing 6
Location18q21.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000174448
Ensembl biotypeprotein_coding
OMIM607051
Entrez147323

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000307844, ENST00000577499, ENST00000581310, ENST00000584040, ENST00000686109, ENST00000689888

RefSeq mRNA: 4 — MANE Select: NM_139171 NM_001371101, NM_001371102, NM_001394379, NM_139171

CCDS: CCDS11955, CCDS92463

Canonical transcript exons

ENST00000307844 — 8 exons

ExonStartEnd
ENSE000011991335435405454354103
ENSE000012636775432934754329440
ENSE000027032655432449254324875
ENSE000027149585435636154356444
ENSE000027275715435448454354577
ENSE000034710085433712554337251
ENSE000036559965433174254331859
ENSE000039280845435779254357858

Expression profiles

Bgee: expression breadth broad, 95 present calls, max score 85.79.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1891 / max 22.4409, expressed in 55 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1720020.163145
1720010.02608

Top tissues by expression

199 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
left testisUBERON:000453385.79gold quality
right testisUBERON:000453485.02gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047384.91gold quality
testisUBERON:000047383.29gold quality
spermCL:000001977.86gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099173.36gold quality
ganglionic eminenceUBERON:000402359.45gold quality
C1 segment of cervical spinal cordUBERON:000646957.03gold quality
adult organismUBERON:000702356.90gold quality
spinal cordUBERON:000224055.48gold quality
endothelial cellCL:000011551.80gold quality
tibial nerveUBERON:000132351.27gold quality
ventricular zoneUBERON:000305350.57gold quality
calcaneal tendonUBERON:000370150.38gold quality
mucosa of stomachUBERON:000119950.26gold quality
substantia nigraUBERON:000203850.20gold quality
prefrontal cortexUBERON:000045149.66gold quality
midbrainUBERON:000189148.94gold quality
lower lobe of lungUBERON:000894948.84silver quality
Brodmann (1909) area 9UBERON:001354048.08gold quality
amygdalaUBERON:000187647.60gold quality
anterior cingulate cortexUBERON:000983547.34gold quality
dorsolateral prefrontal cortexUBERON:000983447.31gold quality
hypothalamusUBERON:000189847.25gold quality
tendonUBERON:000004346.45silver quality
neocortexUBERON:000195045.91gold quality
frontal cortexUBERON:000187045.76gold quality
cerebral cortexUBERON:000095645.11gold quality
temporal lobeUBERON:000187143.98gold quality
forebrainUBERON:000189043.90gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no3.59

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 4)

  • Studies show the 3 steroidogenic acute regulatory-related lipid transfer (START) domain proteins StarD4, StarD5 and StarD6 have a similar lipid binding pocket specific for sterols (cholesterol in particular), but differing regulation and localization. (PMID:24440759)
  • Genetic association study results suggest that STARD6 is involved in the pathogenesis of Alzheimer’s disease (PMID:27288785)
  • STARD6 binds specifically testosterone. (PMID:27340016)
  • Differential regulation of STARD1, STARD4 and STARD6 in the human ovary. (PMID:38829257)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
mus_musculusStard6ENSMUSG00000079608
rattus_norvegicusStard6ENSRNOG00000026324
drosophila_melanogasterStart1FBGN0035028
caenorhabditis_elegansWBGENE00010505
caenorhabditis_elegansWBGENE00017826

Paralogs (5): STARD3NL (ENSG00000010270), STARD3 (ENSG00000131748), STAR (ENSG00000147465), STARD4 (ENSG00000164211), STARD5 (ENSG00000172345)

Protein

Protein identifiers

StAR-related lipid transfer protein 6 — P59095 (reviewed: P59095)

Alternative names: START domain-containing protein 6

All UniProt accessions (3): P59095, A0A8I5QL07, J3QRT9

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols.

RefSeq proteins (4): NP_001358030, NP_001358031, NP_001381308, NP_631910* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002913START_lipid-bd_domDomain
IPR023393START-like_dom_sfHomologous_superfamily
IPR043556StARD5/6Family

Pfam: PF01852

UniProt features (20 total): strand 12, helix 3, turn 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
2MOUSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P59095-F192.930.90

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

IDPathway
R-HSA-196108Pregnenolone biosynthesis
R-HSA-1430728Metabolism
R-HSA-196071Metabolism of steroid hormones
R-HSA-556833Metabolism of lipids
R-HSA-8957322Metabolism of steroids

MSigDB gene sets: 47 (showing top): WHITEHURST_PACLITAXEL_SENSITIVITY, GOBP_LIPID_LOCALIZATION, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, MARSON_BOUND_BY_E2F4_UNSTIMULATED, ZHENG_FOXP3_TARGETS_IN_T_LYMPHOCYTE_UP, GOMF_LIPID_BINDING, chr18q21, ER_Q6_01, REACTOME_METABOLISM_OF_STEROID_HORMONES, REACTOME_PREGNENOLONE_BIOSYNTHESIS, REACTOME_METABOLISM_OF_LIPIDS, REACTOME_METABOLISM_OF_STEROIDS, E2F5_TARGET_GENES, HOXB6_TARGET_GENES, PAX3_TARGET_GENES

GO Biological Process (1): lipid transport (GO:0006869)

GO Molecular Function (1): lipid binding (GO:0008289)

GO Cellular Component (0):

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
Metabolism of steroid hormones1
Metabolism of steroids1
Metabolism1
Metabolism of lipids1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transport1
lipid localization1
binding1

Protein interactions and networks

STRING

386 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
STARD6PCTPQ9UKL6926
STARD6STARD10Q9Y365591
STARD6STARD8Q92502580
STARD6NR1H3Q13133556
STARD6SREBF1P36956548
STARD6STARD9Q9P2P6544
STARD6CCDC68Q9H2F9540
STARD6ACOT12Q8WYK0506
STARD6ACOT11Q8WXI4501
STARD6CPLX4Q7Z7G2498
STARD6CERT1Q9Y5P4473
STARD6FMR1NBQ8N0W7470
STARD6STARD13Q9Y3M8459
STARD6FSIP1Q8NA03432
STARD6WFDC11Q8NEX6430
STARD6C16orf90A8MZG2430

IntAct

2 interactions, top by confidence:

ABTypeScore
STARD6GSTA4psi-mi:“MI:0914”(association)0.350

BioGRID (3): EEPD1 (Affinity Capture-MS), GSTA4 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS)

ESM2 similar proteins: A1A4M6, A5GFX0, A5PJU6, O46689, O88736, P49675, P51557, P53808, P59095, P59096, P70114, P79245, P97826, Q28918, Q28996, Q3U1V6, Q4R5S9, Q58DB0, Q5BKH5, Q5IH13, Q5IH14, Q5R8P9, Q64421, Q6GM21, Q6IQS6, Q6NTS7, Q6P9U4, Q6TMK8, Q8R1R3, Q8VE85, Q8WYK0, Q90673, Q90ZB9, Q94E75, Q96DR4, Q96N28, Q99JV5, Q99NB7, Q9CYY7, Q9DBK0

Diamond homologs: A1A4M6, P59095, P59096, Q5R8P9, Q96DR4, Q99JV5, Q9EPQ7, Q9NSY2, Q61542

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

32 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance28
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1393 predictions. Top by Δscore:

VariantEffectΔscore
18:54329345:A:ACdonor_gain1.0000
18:54329346:C:CCdonor_gain1.0000
18:54331734:CAACT:Cdonor_loss1.0000
18:54331735:AACTT:Adonor_loss1.0000
18:54331736:ACTT:Adonor_loss1.0000
18:54331737:CTTAC:Cdonor_loss1.0000
18:54331738:T:TAdonor_loss1.0000
18:54331739:T:TCdonor_loss1.0000
18:54331740:A:ACdonor_gain1.0000
18:54331740:ACAAC:Adonor_loss1.0000
18:54331741:C:CGdonor_gain1.0000
18:54331741:CA:Cdonor_gain1.0000
18:54331741:CAA:Cdonor_gain1.0000
18:54331741:CAACT:Cdonor_gain1.0000
18:54331761:T:TAdonor_gain1.0000
18:54331855:GTGTC:Gacceptor_gain1.0000
18:54331857:GTCCT:Gacceptor_loss1.0000
18:54331858:TCC:Tacceptor_loss1.0000
18:54331860:C:Aacceptor_loss1.0000
18:54331861:T:Cacceptor_loss1.0000
18:54354470:A:Cdonor_gain1.0000
18:54354474:A:ACdonor_gain1.0000
18:54354475:T:Cdonor_gain1.0000
18:54354482:A:ACdonor_gain1.0000
18:54354483:C:CCdonor_gain1.0000
18:54356328:T:TAdonor_gain1.0000
18:54357794:T:Adonor_gain1.0000
18:54357815:A:Cdonor_gain1.0000
18:54357828:T:TAdonor_gain1.0000
18:54324873:TTT:Tacceptor_gain0.9900

AlphaMissense

1447 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
18:54337246:C:GR49P0.991
18:54331801:C:GR109P0.987
18:54354504:A:GW24R0.987
18:54354504:A:TW24R0.987
18:54354090:A:TV35D0.982
18:54329371:C:TG152D0.978
18:54329433:A:CS131R0.977
18:54329433:A:TS131R0.977
18:54329435:T:GS131R0.977
18:54331794:A:CF111L0.974
18:54331794:A:TF111L0.974
18:54331796:A:GF111L0.974
18:54337172:A:GW74R0.972
18:54337172:A:TW74R0.972
18:54329393:G:TR145S0.970
18:54331743:A:CS128R0.970
18:54331743:A:TS128R0.970
18:54331745:T:GS128R0.970
18:54337170:C:AW74C0.970
18:54337170:C:GW74C0.970
18:54354065:G:CF43L0.969
18:54354065:G:TF43L0.969
18:54354067:A:GF43L0.969
18:54354502:C:AW24C0.969
18:54354502:C:GW24C0.969
18:54329389:C:TG146D0.962
18:54329372:C:GG152R0.958
18:54354088:A:GS36P0.958
18:54329363:A:GC155R0.957
18:54324855:A:GL167P0.956

dbSNP variants (sampled 300 via entrez): RS1000024996 (18:54331851 G>T), RS1000067351 (18:54338475 C>T), RS1000086588 (18:54330181 C>G), RS1000160433 (18:54357184 A>G), RS1000259451 (18:54339358 A>G), RS1000357895 (18:54326444 G>C), RS1000391102 (18:54333146 GCAA>G), RS1000404882 (18:54326164 C>G), RS1000420626 (18:54333451 A>G), RS1000487409 (18:54357999 G>A), RS1000523621 (18:54353570 G>C), RS1000602908 (18:54358252 G>C), RS1000695070 (18:54339710 T>C), RS1000700676 (18:54347655 G>A,C), RS1000728798 (18:54357438 C>T)

Disease associations

OMIM: gene MIM:607051 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

StudyTraitp-value
GCST002874_15Psoriasis2.000000e-07
GCST005527_35Psoriasis4.000000e-10
GCST006630_81Diastolic blood pressure2.000000e-21

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0006336diastolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

ChemicalActions (top 5)PubMed papers
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression1
Lipopolysaccharidesaffects response to substance, increases expression1
Aflatoxin B1decreases methylation1
Sodium Selenitedecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot