STARD4
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Summary
STARD4 (StAR related lipid transfer domain containing 4, HGNC:18058) is a protein-coding gene on chromosome 5q22.1, encoding StAR-related lipid transfer protein 4 (Q96DR4). Involved in the intracellular transport of cholesterol.
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 STARD4 (Soccio et al., 2002 [PubMed 12011452]).
Source: NCBI Gene 134429 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 26 total
- MANE Select transcript:
NM_139164
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18058 |
| Approved symbol | STARD4 |
| Name | StAR related lipid transfer domain containing 4 |
| Location | 5q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000164211 |
| Ensembl biotype | protein_coding |
| OMIM | 607049 |
| Entrez | 134429 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 12 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000296632, ENST00000455172, ENST00000502322, ENST00000502931, ENST00000505803, ENST00000508215, ENST00000509887, ENST00000510346, ENST00000511137, ENST00000511436, ENST00000511569, ENST00000512160, ENST00000925892, ENST00000925893, ENST00000925894, ENST00000925895, ENST00000925896, ENST00000925897, ENST00000954329
RefSeq mRNA: 7 — MANE Select: NM_139164
NM_001308056, NM_001308057, NM_001308058, NM_001308059, NM_001308060, NM_001308061, NM_139164
CCDS: CCDS4104, CCDS78046
Canonical transcript exons
ENST00000296632 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001263084 | 111496033 | 111500106 |
| ENSE00002080404 | 111512385 | 111512535 |
| ENSE00003467152 | 111501962 | 111502088 |
| ENSE00003494506 | 111501002 | 111501116 |
| ENSE00003497181 | 111507329 | 111507442 |
| ENSE00003590177 | 111506330 | 111506379 |
Expression profiles
Bgee: expression breadth ubiquitous, 221 present calls, max score 97.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.5075 / max 6108.2068, expressed in 1810 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62917 | 33.5773 | 1801 |
| 62915 | 2.6999 | 1150 |
| 62916 | 1.8296 | 928 |
| 62918 | 1.5337 | 1009 |
| 62919 | 0.8670 | 104 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 97.45 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.04 | gold quality |
| jejunal mucosa | UBERON:0000399 | 91.94 | gold quality |
| duodenum | UBERON:0002114 | 89.73 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.57 | gold quality |
| rectum | UBERON:0001052 | 88.17 | gold quality |
| right lung | UBERON:0002167 | 88.14 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.06 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.74 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.71 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.62 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 87.45 | gold quality |
| cerebellum | UBERON:0002037 | 87.33 | gold quality |
| upper lobe of lung | UBERON:0008948 | 87.23 | gold quality |
| pancreatic ductal cell | CL:0002079 | 87.22 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 87.19 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.91 | gold quality |
| lung | UBERON:0002048 | 86.84 | gold quality |
| ventricular zone | UBERON:0003053 | 86.70 | gold quality |
| cerebellar vermis | UBERON:0004720 | 86.27 | silver quality |
| pigmented layer of retina | UBERON:0001782 | 86.17 | gold quality |
| spinal cord | UBERON:0002240 | 86.07 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 85.90 | gold quality |
| popliteal artery | UBERON:0002250 | 85.89 | gold quality |
| tibial artery | UBERON:0007610 | 85.89 | gold quality |
| placenta | UBERON:0001987 | 85.66 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.35 | gold quality |
| embryo | UBERON:0000922 | 85.31 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.31 | gold quality |
| cartilage tissue | UBERON:0002418 | 85.26 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.18 |
| E-GEOD-75140 | no | 251.69 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF6, SREBF2
miRNA regulators (miRDB)
177 targeting STARD4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
Literature-anchored findings (GeneRIF, showing 16)
- StarD4 is regulated by sterols via SREBP-2, and StarD5 is activated by ER stress cholesterol metabolism; they serve different functions (PMID:15760897)
- Induction of STARD4 depended on both transcription factor ATF6 and an ERSE-like element in its promoter. (PMID:16579971)
- StarD4 plays an important role as a directional cholesterol transporter in the maintenance of cellular cholesterol homeostasis (PMID:18403318)
- StarD4-accelerated 7 alpha-OOH transfer to mitochondria resulted in greater susceptibility to free radical lipid peroxidation and loss of membrane potential than in a non-StarD4 control. (PMID:20059974)
- Study provide strong evidence for StarD4 as a highly regulated, non-vesicular, directional, intracellular transporter of cholesterol which plays a key role in the maintenance of intracellular cholesterol homeostasis. (PMID:21767660)
- cholesterol transport mediated by STARD4 is an important component of the cholesterol homeostasis regulatory machinery (PMID:21900492)
- The data indicate a role for STARD4 in nonvesicular transport of cholesterol from the plasma membrane and the endocytic recycling compartment to the endoplasmic reticulum and perhaps other intracellular compartments as well. (PMID:23033213)
- 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)
- This study shows that nonvesicular sterol transport mechanisms and STARD4 in particular account for a large fraction of sterol transport between the plasma membrane and the ERC. (PMID:28209730)
- STARD4 has a conserved alpha-helix/beta-grip fold with a deep hydrophobic pocket.STARD4 binds sterol in the pocket and transport sterol between liposomes. Sterol binding requires a conformational change to form a complementary pocket. (PMID:31607485)
- Knockdown of STARD4, a sterol transporter, leads to large changes in the lipidome. STARD4-KD cells also have large changes in their mRNA profile. There is an increase in cellular cholesterol, including in late endosomes. These results indicate that STARD4 plays important roles in lipid homeostasis. (PMID:31917335)
- STARD4 promotes breast cancer cell malignancy. (PMID:33125124)
- [Steroidogenic acute regulatory protein-related lipid transfer 4 (StarD4) promotes breast cancer cell proliferation and its mechanism]. (PMID:34970895)
- SREBF2-STARD4 axis confers sorafenib resistance in hepatocellular carcinoma by regulating mitochondrial cholesterol homeostasis. (PMID:35642354)
- Membrane specificity of the human cholesterol transfer protein STARD4. (PMID:38615744)
- Differential regulation of STARD1, STARD4 and STARD6 in the human ovary. (PMID:38829257)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stard4 | ENSDARG00000102477 |
| mus_musculus | Stard4 | ENSMUSG00000024378 |
| rattus_norvegicus | Stard4 | ENSRNOG00000020468 |
| drosophila_melanogaster | Start1 | FBGN0035028 |
| caenorhabditis_elegans | WBGENE00010505 | |
| caenorhabditis_elegans | WBGENE00017826 |
Paralogs (5): STARD3NL (ENSG00000010270), STARD3 (ENSG00000131748), STAR (ENSG00000147465), STARD5 (ENSG00000172345), STARD6 (ENSG00000174448)
Protein
Protein identifiers
StAR-related lipid transfer protein 4 — Q96DR4 (reviewed: Q96DR4)
Alternative names: START domain-containing protein 4
All UniProt accessions (3): D6RDM5, D6REN7, Q96DR4
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the intracellular transport of cholesterol. Binds cholesterol or other sterols.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96DR4-1 | 1 | yes |
| Q96DR4-2 | 2 |
RefSeq proteins (7): NP_001294985, NP_001294986, NP_001294987, NP_001294988, NP_001294989, NP_001294990, NP_631903* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002913 | START_lipid-bd_dom | Domain |
| IPR023393 | START-like_dom_sf | Homologous_superfamily |
| IPR042555 | StarD4 | Family |
Pfam: PF01852
Catalyzed reactions (Rhea), 1 shown:
- cholesterol(in) = cholesterol(out) (RHEA:39747)
UniProt features (20 total): strand 11, helix 5, chain 1, domain 1, turn 1, splice variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6L1M | X-RAY DIFFRACTION | 1.7 |
| 6L1D | X-RAY DIFFRACTION | 1.95 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96DR4-F1 | 96.03 | 0.96 |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-196108 | Pregnenolone biosynthesis |
| R-HSA-1430728 | Metabolism |
| R-HSA-196071 | Metabolism of steroid hormones |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-8957322 | Metabolism of steroids |
MSigDB gene sets: 276 (showing top):
RNGTGGGC_UNKNOWN, MODULE_97, CCAWYNNGAAR_UNKNOWN, MENSE_HYPOXIA_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MODULE_182, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_BILE_ACID_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS
GO Biological Process (6): cholesterol transport involved in cholesterol storage (GO:0010879), intracellular cholesterol transport (GO:0032367), cholesterol import (GO:0070508), positive regulation of bile acid biosynthetic process (GO:0070859), positive regulation of cholesterol metabolic process (GO:0090205), lipid transport (GO:0006869)
GO Molecular Function (4): cholesterol binding (GO:0015485), cholesterol transfer activity (GO:0120020), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (4): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Metabolism of steroid hormones | 1 |
| Metabolism of steroids | 1 |
| Metabolism | 1 |
| Metabolism of lipids | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cholesterol transport | 3 |
| cytoplasm | 3 |
| intracellular anatomical structure | 2 |
| positive regulation of small molecule metabolic process | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| lipid transport involved in lipid storage | 1 |
| cholesterol storage | 1 |
| intracellular sterol transport | 1 |
| bile acid biosynthetic process | 1 |
| positive regulation of steroid biosynthetic process | 1 |
| regulation of bile acid biosynthetic process | 1 |
| cholesterol metabolic process | 1 |
| positive regulation of steroid metabolic process | 1 |
| regulation of cholesterol metabolic process | 1 |
| transport | 1 |
| lipid localization | 1 |
| sterol binding | 1 |
| alcohol binding | 1 |
| cholesterol binding | 1 |
| sterol transfer activity | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
586 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STARD4 | PCTP | Q9UKL6 | 940 |
| STARD4 | SREBF1 | P36956 | 656 |
| STARD4 | CERT1 | Q9Y5P4 | 647 |
| STARD4 | NR1H3 | Q13133 | 568 |
| STARD4 | STARD3 | Q14849 | 557 |
| STARD4 | HMGCS1 | Q01581 | 525 |
| STARD4 | OSBP | P22059 | 499 |
| STARD4 | NPC1 | O15118 | 488 |
| STARD4 | STARD10 | Q9Y365 | 488 |
| STARD4 | SREBF2 | Q12772 | 480 |
| STARD4 | STARD7 | Q9NQZ5 | 478 |
| STARD4 | MSMO1 | Q15800 | 475 |
| STARD4 | DGLUCY | Q7Z3D6 | 469 |
| STARD4 | HMGCR | P04035 | 466 |
| STARD4 | SQLE | Q14534 | 463 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARL6IP1 | STARD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCHCR1 | STARD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AGTRAP | STARD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GDAP1 | STARD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STARD4 | MTIF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYP | STARD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STARD4 | AGTRAP | psi-mi:“MI:0915”(physical association) | 0.000 |
| STARD4 | ARL6IP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| STARD4 | CCHCR1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| STARD4 | GDAP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| STARD4 | SYP | psi-mi:“MI:0915”(physical association) | 0.000 |
| STARD4 | MTIF3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (8): STARD4 (Two-hybrid), STARD4 (Two-hybrid), STARD4 (Two-hybrid), ARL6IP1 (Two-hybrid), AGTRAP (Two-hybrid), CCHCR1 (Two-hybrid), STARD4 (Affinity Capture-RNA), STARD4 (Affinity Capture-RNA)
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
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1104 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:111501112:CAATT:C | acceptor_gain | 1.0000 |
| 5:111501113:AATT:A | acceptor_gain | 1.0000 |
| 5:111501114:ATTC:A | acceptor_loss | 1.0000 |
| 5:111501115:TT:T | acceptor_gain | 1.0000 |
| 5:111501115:TTCT:T | acceptor_loss | 1.0000 |
| 5:111501116:TCTG:T | acceptor_loss | 1.0000 |
| 5:111501117:C:CC | acceptor_gain | 1.0000 |
| 5:111501117:C:T | acceptor_loss | 1.0000 |
| 5:111501118:T:C | acceptor_loss | 1.0000 |
| 5:111501957:GATAC:G | donor_loss | 1.0000 |
| 5:111501958:ATACC:A | donor_loss | 1.0000 |
| 5:111501959:TACC:T | donor_loss | 1.0000 |
| 5:111501960:A:T | donor_loss | 1.0000 |
| 5:111501961:C:G | donor_loss | 1.0000 |
| 5:111502089:C:CC | acceptor_gain | 1.0000 |
| 5:111506328:A:AC | donor_gain | 1.0000 |
| 5:111506329:C:CC | donor_gain | 1.0000 |
| 5:111499860:C:CT | donor_gain | 0.9900 |
| 5:111499861:T:TT | donor_gain | 0.9900 |
| 5:111499932:G:A | donor_gain | 0.9900 |
| 5:111501019:T:TA | donor_gain | 0.9900 |
| 5:111501114:ATT:A | acceptor_gain | 0.9900 |
| 5:111501961:CCT:C | donor_gain | 0.9900 |
| 5:111501963:T:TA | donor_gain | 0.9900 |
| 5:111502084:TGTAG:T | acceptor_gain | 0.9900 |
| 5:111502086:TAG:T | acceptor_gain | 0.9900 |
| 5:111502087:AG:A | acceptor_gain | 0.9900 |
| 5:111502088:GC:G | acceptor_loss | 0.9900 |
| 5:111502089:C:T | acceptor_loss | 0.9900 |
| 5:111502090:T:A | acceptor_loss | 0.9900 |
AlphaMissense
1355 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:111501051:A:C | F116L | 0.998 |
| 5:111501051:A:T | F116L | 0.998 |
| 5:111501053:A:G | F116L | 0.998 |
| 5:111499938:G:T | A189D | 0.996 |
| 5:111500041:A:G | W155R | 0.996 |
| 5:111500041:A:T | W155R | 0.996 |
| 5:111501057:T:A | R114S | 0.996 |
| 5:111501057:T:G | R114S | 0.996 |
| 5:111502009:A:G | W79R | 0.996 |
| 5:111502009:A:T | W79R | 0.996 |
| 5:111507349:A:G | W29R | 0.996 |
| 5:111507349:A:T | W29R | 0.996 |
| 5:111500043:C:T | G154D | 0.995 |
| 5:111500099:A:C | S135R | 0.995 |
| 5:111500099:A:T | S135R | 0.995 |
| 5:111500101:T:G | S135R | 0.995 |
| 5:111501052:A:G | F116S | 0.994 |
| 5:111501067:A:T | I111N | 0.994 |
| 5:111502007:C:A | W79C | 0.994 |
| 5:111502007:C:G | W79C | 0.994 |
| 5:111502018:G:T | R76S | 0.994 |
| 5:111500061:C:T | G148E | 0.993 |
| 5:111502006:C:G | D80H | 0.993 |
| 5:111501047:C:G | D118H | 0.992 |
| 5:111501052:A:C | F116C | 0.992 |
| 5:111501058:C:G | R114T | 0.992 |
| 5:111502005:T:G | D80A | 0.992 |
| 5:111499939:C:G | A189P | 0.991 |
| 5:111502005:T:A | D80V | 0.991 |
| 5:111499990:A:C | Y172D | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000181162 (5:111502580 G>C), RS1000232732 (5:111505809 A>C,G), RS1000365692 (5:111498021 A>G,T), RS1000735976 (5:111496640 C>G,T), RS1000842576 (5:111499756 G>A), RS1000872074 (5:111506396 A>C), RS1001106205 (5:111496317 A>G), RS1001241321 (5:111499664 CAGAGTG>C), RS1001399677 (5:111500013 G>C), RS1001477641 (5:111505859 A>G), RS1001487845 (5:111509804 G>A), RS1001678502 (5:111512685 A>C), RS1001772245 (5:111499672 G>A,C), RS1001886607 (5:111504642 A>T), RS1002093855 (5:111511942 G>C)
Disease associations
OMIM: gene MIM:607049 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002541_14 | Menarche (age at onset) | 3.000000e-10 |
| GCST002875_171 | Diisocyanate-induced asthma | 2.000000e-06 |
| GCST007507_8 | Benign prostatic hyperplasia and lower urinary tract symptoms | 4.000000e-12 |
| GCST009798_4 | Asthma | 1.000000e-14 |
| GCST009798_60 | Asthma | 1.000000e-44 |
| GCST010320_81 | PR interval | 3.000000e-09 |
| GCST010321_2 | PR interval | 5.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0006995 | response to diisocyanate |
| EFO:0008008 | lower urinary tract symptom |
| EFO:0004462 | PR interval |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 3 |
| methylmercuric chloride | decreases expression | 2 |
| Resveratrol | increases expression, affects cotreatment | 2 |
| Arsenic Trioxide | affects cotreatment, decreases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Valproic Acid | decreases expression, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| dodecyldimethylamine oxide | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| cupric chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| dinophysistoxin 1 | decreases expression | 1 |
| yessotoxin | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| azaspiracid | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| PP242 | decreases expression | 1 |
| Dasatinib | affects cotreatment, decreases expression | 1 |
| Decitabine | decreases expression, decreases reaction | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): benign prostatic hyperplasia