BLTP3A
geneOn this page
Also known as FLJ20302dJ349A12.1
Summary
BLTP3A (bridge-like lipid transfer protein family member 3A, HGNC:21216) is a protein-coding gene on chromosome 6p21.31, encoding Bridge-like lipid transfer protein family member 3A (Q6BDS2). Tube-forming lipid transport protein which probably mediates the transfer of lipids between membranes at organelle contact sites.
Enables histone deacetylase binding activity and identical protein binding activity. Located in late endosome.
Source: NCBI Gene 54887 — RefSeq curated summary.
At a glance
- GWAS associations: 72
- Clinical variants (ClinVar): 245 total
- MANE Select transcript:
NM_017754
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21216 |
| Approved symbol | BLTP3A |
| Name | bridge-like lipid transfer protein family member 3A |
| Location | 6p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20302, dJ349A12.1 |
| Ensembl gene | ENSG00000065060 |
| Ensembl biotype | protein_coding |
| OMIM | 619570 |
| Entrez | 54887 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000192788
RefSeq mRNA: 1 — MANE Select: NM_017754
NM_017754
CCDS: CCDS43455
Canonical transcript exons
ENST00000192788 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000849555 | 34821653 | 34821815 |
| ENSE00000849557 | 34823257 | 34823348 |
| ENSE00000849558 | 34834217 | 34834406 |
| ENSE00000849559 | 34834721 | 34834861 |
| ENSE00000849560 | 34835294 | 34835464 |
| ENSE00001032558 | 34821917 | 34821955 |
| ENSE00001536064 | 34792083 | 34792294 |
| ENSE00001913117 | 34872313 | 34877514 |
| ENSE00002204269 | 34855617 | 34855703 |
| ENSE00002240288 | 34857724 | 34857917 |
| ENSE00002241779 | 34836156 | 34836348 |
| ENSE00002244306 | 34856239 | 34856409 |
| ENSE00002251966 | 34857329 | 34857470 |
| ENSE00002261815 | 34864002 | 34864198 |
| ENSE00002267363 | 34867466 | 34867616 |
| ENSE00002286867 | 34856790 | 34856929 |
| ENSE00002287164 | 34871584 | 34871692 |
| ENSE00002302200 | 34858124 | 34859571 |
| ENSE00002303238 | 34871819 | 34871925 |
| ENSE00002316639 | 34870854 | 34871116 |
| ENSE00002323076 | 34867225 | 34867379 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 94.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3174 / max 182.7254, expressed in 1783 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67380 | 9.1121 | 1719 |
| 203970 | 3.9194 | 1509 |
| 67379 | 0.2859 | 132 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 94.87 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.95 | gold quality |
| sperm | CL:0000019 | 93.69 | gold quality |
| deltoid | UBERON:0001476 | 93.36 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.89 | gold quality |
| vastus lateralis | UBERON:0001379 | 91.35 | gold quality |
| quadriceps femoris | UBERON:0001377 | 91.23 | gold quality |
| biceps brachii | UBERON:0001507 | 90.27 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.11 | gold quality |
| parotid gland | UBERON:0001831 | 89.98 | gold quality |
| parietal pleura | UBERON:0002400 | 89.81 | gold quality |
| myocardium | UBERON:0002349 | 89.55 | gold quality |
| visceral pleura | UBERON:0002401 | 89.14 | gold quality |
| heart right ventricle | UBERON:0002080 | 89.09 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 88.75 | gold quality |
| pancreatic ductal cell | CL:0002079 | 88.39 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 88.15 | gold quality |
| muscle tissue | UBERON:0002385 | 86.89 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 86.58 | gold quality |
| oviduct epithelium | UBERON:0004804 | 86.42 | gold quality |
| ileal mucosa | UBERON:0000331 | 86.11 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 86.03 | gold quality |
| upper leg skin | UBERON:0004262 | 86.01 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 85.85 | gold quality |
| eye | UBERON:0000970 | 85.31 | gold quality |
| secondary oocyte | CL:0000655 | 84.85 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 84.80 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 84.77 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 83.70 | gold quality |
| adult organism | UBERON:0007023 | 83.66 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.86 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
251 targeting BLTP3A, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
Literature-anchored findings (GeneRIF, showing 5)
- identified five new systemic lupus erythematosus susceptibility loci (P < 5 x 10(-8)): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19). (PMID:19838195)
- Cross-population confirmation establishes the involvement of UHRF1BP1 locus in SLE and indicates that distinct alleles are contributing to disease susceptibility. (PMID:21326321)
- Study shows that SESN1 mRNA, UHRF1BP11 mRNA and miRNA-377-3p levels are prognostically relevant in human papillomavirus-negative head and neck squamous cell carcinoma patients. (PMID:28886272)
- The association of the UHRF1BP1 gene with systemic lupus erythematosus was replicated in a Han Chinese population from mainland China. (PMID:31691269)
- PP7080 expedites the proliferation and migration of lung adenocarcinoma cells via sponging miR-670-3p and regulating UHRF1BP1. (PMID:33844396)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bltp3a | ENSDARG00000077011 |
| mus_musculus | Bltp3a | ENSMUSG00000039512 |
| rattus_norvegicus | Bltp3a | ENSRNOG00000000495 |
| drosophila_melanogaster | CG34126 | FBGN0083962 |
| caenorhabditis_elegans | WBGENE00008094 |
Paralogs (1): BLTP3B (ENSG00000111647)
Protein
Protein identifiers
Bridge-like lipid transfer protein family member 3A — Q6BDS2 (reviewed: Q6BDS2)
Alternative names: ICBP90-binding protein 1, UHRF1-binding protein 1, Ubiquitin-like containing PHD and RING finger domains 1-binding protein 1
All UniProt accessions (1): Q6BDS2
UniProt curated annotations — full annotation on UniProt →
Function. Tube-forming lipid transport protein which probably mediates the transfer of lipids between membranes at organelle contact sites. May be involved in the retrograde traffic of vesicle clusters in the endocytic pathway to the Golgi complex.
Subunit / interactions. Homodimer (Potential). Interacts with UHRF1.
Subcellular location. Late endosome.
RefSeq proteins (1): NP_060224* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026728 | BLTP3A/B | Family |
Pfam: PF24917
UniProt features (26 total): modified residue 7, compositionally biased region 5, region of interest 5, sequence variant 5, coiled-coil region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6BDS2-F1 | 67.37 | 0.31 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (7): 444, 446, 755, 758, 988, 1103, 1106
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 141 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, TGACCTY_ERR1_Q2, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, PPAR_DR1_Q2, AACTTT_UNKNOWN, MAF_Q6, HOXA4_Q2, SENESE_HDAC3_TARGETS_DN, GOMF_HISTONE_DEACETYLASE_BINDING, GEORGES_TARGETS_OF_MIR192_AND_MIR215, COUP_DR1_Q6, MCBRYAN_PUBERTAL_BREAST_6_7WK_DN, CCTNTMAGA_UNKNOWN
GO Biological Process (0):
GO Molecular Function (3): identical protein binding (GO:0042802), histone deacetylase binding (GO:0042826), protein binding (GO:0005515)
GO Cellular Component (2): late endosome (GO:0005770), endosome (GO:0005768)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 1 |
| enzyme binding | 1 |
| binding | 1 |
| endosome | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
686 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BLTP3A | PHRF1 | Q9P1Y6 | 657 |
| BLTP3A | ILRUN | Q9H6K1 | 588 |
| BLTP3A | SCUBE3 | Q8IX30 | 511 |
| BLTP3A | PXK | Q7Z7A4 | 502 |
| BLTP3A | TNIP1 | Q15025 | 499 |
| BLTP3A | ANKS1A | Q92625 | 491 |
| BLTP3A | JAZF1 | Q86VZ6 | 490 |
| BLTP3A | UHRF1 | Q96T88 | 481 |
| BLTP3A | COBLL1 | Q53SF7 | 476 |
| BLTP3A | LYPLAL1 | Q5VWZ2 | 448 |
| BLTP3A | GRB14 | Q14449 | 445 |
| BLTP3A | UBAP2 | Q5T6F2 | 439 |
| BLTP3A | TCP11 | Q8WWU5 | 435 |
| BLTP3A | BANK1 | Q8NDB2 | 431 |
| BLTP3A | RGL2 | O15211 | 426 |
IntAct
91 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BCL2L2 | BCL2L11 | psi-mi:“MI:0914”(association) | 0.930 |
| HMG20A | KDM1A | psi-mi:“MI:0914”(association) | 0.730 |
| FOXK2 | DVL2 | psi-mi:“MI:0914”(association) | 0.640 |
| DNAJC7 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| KLHL22 | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| RUVBL1 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| RAB9A | CHM | psi-mi:“MI:0914”(association) | 0.610 |
| PCNA | POM121C | psi-mi:“MI:0914”(association) | 0.550 |
| CREB3L1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM131B | AURKA | psi-mi:“MI:0914”(association) | 0.530 |
| RAB30 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| STK16 | FLG | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L5 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| STK16 | UNC119B | psi-mi:“MI:0914”(association) | 0.530 |
| CREB3 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEA4 | MAGEA8 | psi-mi:“MI:0914”(association) | 0.530 |
| CBY1 | CFAP410 | psi-mi:“MI:0914”(association) | 0.510 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| BLTP3A | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BLTP3A | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BLTP3A | HMGA1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BLTP3A | POLE | psi-mi:“MI:0915”(physical association) | 0.400 |
| Tube1 | psi-mi:“MI:0914”(association) | 0.350 | |
| RAPGEF2 | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF644 | ATP9A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (112): UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IES7, A0JN62, A0JNW5, A2AAE1, A2AGL3, A2RSJ4, A2RT67, A2RUS2, A2RV80, B0LPN4, B1H2P5, E7F240, E9Q401, O00507, O94967, P30957, P48553, P51593, Q14161, Q2LD37, Q3TLI0, Q3UHE1, Q3UVG3, Q3UX43, Q5F361, Q5M7Q1, Q5RAQ5, Q5ZJK1, Q658Y4, Q68CL5, Q6BDS2, Q6P6Y1, Q6TEP1, Q6VNB8, Q7TMY8, Q7TSG1, Q7Z6Z7, Q8BHY8, Q8CB44, Q8CGF6
Diamond homologs: A0JNW5, A2RSJ4, Q54KX3, Q6BDS2, Q6NRZ1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 131 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitophagy | 9 | 24.1× | 5e-08 |
| autophagosome maturation | 8 | 23.6× | 5e-07 |
| autophagosome assembly | 6 | 11.3× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
245 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 199 |
| Likely benign | 7 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3032 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:34821648:TTCA:T | acceptor_loss | 1.0000 |
| 6:34821649:TCAG:T | acceptor_loss | 1.0000 |
| 6:34821650:CA:C | acceptor_loss | 1.0000 |
| 6:34821651:A:AC | acceptor_loss | 1.0000 |
| 6:34821651:A:AG | acceptor_gain | 1.0000 |
| 6:34821652:G:A | acceptor_loss | 1.0000 |
| 6:34821652:G:GG | acceptor_gain | 1.0000 |
| 6:34821652:GGTTC:G | acceptor_gain | 1.0000 |
| 6:34823253:TCA:T | acceptor_loss | 1.0000 |
| 6:34823254:CAGTG:C | acceptor_loss | 1.0000 |
| 6:34823255:A:AG | acceptor_gain | 1.0000 |
| 6:34823255:A:AT | acceptor_loss | 1.0000 |
| 6:34823256:G:GA | acceptor_gain | 1.0000 |
| 6:34823256:GT:G | acceptor_gain | 1.0000 |
| 6:34823256:GTGT:G | acceptor_gain | 1.0000 |
| 6:34823344:CAGAG:C | donor_loss | 1.0000 |
| 6:34823345:AGAG:A | donor_loss | 1.0000 |
| 6:34823346:GAG:G | donor_gain | 1.0000 |
| 6:34823346:GAGGT:G | donor_loss | 1.0000 |
| 6:34823349:GTT:G | donor_loss | 1.0000 |
| 6:34834403:A:T | donor_gain | 1.0000 |
| 6:34834716:TCCA:T | acceptor_loss | 1.0000 |
| 6:34834719:A:C | acceptor_loss | 1.0000 |
| 6:34834720:G:A | acceptor_loss | 1.0000 |
| 6:34834857:GAAGA:G | donor_gain | 1.0000 |
| 6:34834860:GA:G | donor_gain | 1.0000 |
| 6:34834862:G:GG | donor_gain | 1.0000 |
| 6:34835282:T:TA | acceptor_gain | 1.0000 |
| 6:34835289:CTCAG:C | acceptor_loss | 1.0000 |
| 6:34835290:TCAG:T | acceptor_loss | 1.0000 |
AlphaMissense
9469 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:34821771:T:A | W55R | 1.000 |
| 6:34821771:T:C | W55R | 1.000 |
| 6:34821795:T:C | C63R | 1.000 |
| 6:34821797:C:G | C63W | 1.000 |
| 6:34821923:T:A | W72R | 1.000 |
| 6:34821923:T:C | W72R | 1.000 |
| 6:34821925:G:C | W72C | 1.000 |
| 6:34821925:G:T | W72C | 1.000 |
| 6:34834745:T:A | W185R | 1.000 |
| 6:34834745:T:C | W185R | 1.000 |
| 6:34834818:T:C | L209P | 1.000 |
| 6:34835351:T:A | W243R | 1.000 |
| 6:34835351:T:C | W243R | 1.000 |
| 6:34792264:T:A | I5N | 0.999 |
| 6:34792279:T:C | L10P | 0.999 |
| 6:34792288:T:C | L13P | 0.999 |
| 6:34821654:T:C | F16L | 0.999 |
| 6:34821655:T:C | F16S | 0.999 |
| 6:34821656:C:A | F16L | 0.999 |
| 6:34821656:C:G | F16L | 0.999 |
| 6:34821702:G:A | G32R | 0.999 |
| 6:34821702:G:C | G32R | 0.999 |
| 6:34821703:G:A | G32E | 0.999 |
| 6:34821715:T:C | L36P | 0.999 |
| 6:34821724:T:C | L39P | 0.999 |
| 6:34821730:T:A | L41Q | 0.999 |
| 6:34821730:T:C | L41P | 0.999 |
| 6:34821745:T:C | L46P | 0.999 |
| 6:34821796:G:A | C63Y | 0.999 |
| 6:34821805:C:A | A66D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000009669 (6:34824451 G>A), RS1000035238 (6:34800822 G>T), RS1000051575 (6:34852911 A>G), RS1000066968 (6:34877564 A>G), RS1000158913 (6:34813047 T>C), RS1000216690 (6:34866979 A>G), RS1000248197 (6:34833279 C>T), RS1000269459 (6:34806574 C>T), RS1000270128 (6:34852652 A>G), RS1000282579 (6:34845619 T>C,G), RS1000299837 (6:34866379 C>T), RS1000305418 (6:34874689 A>G), RS1000335998 (6:34827800 T>G), RS1000369050 (6:34820120 T>C), RS1000402193 (6:34797853 T>G)
Disease associations
OMIM: gene MIM:619570 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
72 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001526_12 | Fasting blood insulin (BMI interaction) | 4.000000e-08 |
| GCST001795_32 | Systemic lupus erythematosus | 1.000000e-12 |
| GCST002069_12 | Systemic lupus erythematosus and Systemic sclerosis | 3.000000e-07 |
| GCST003155_52 | Systemic lupus erythematosus | 8.000000e-09 |
| GCST003156_31 | Systemic lupus erythematosus | 1.000000e-08 |
| GCST003622_56 | Systemic lupus erythematosus | 1.000000e-10 |
| GCST004065_54 | Waist circumference | 6.000000e-06 |
| GCST004065_58 | Waist circumference | 3.000000e-08 |
| GCST004066_34 | Hip circumference | 8.000000e-08 |
| GCST004066_5 | Hip circumference | 2.000000e-08 |
| GCST004066_86 | Hip circumference | 1.000000e-13 |
| GCST004067_168 | Hip circumference adjusted for BMI | 9.000000e-10 |
| GCST004067_181 | Hip circumference adjusted for BMI | 3.000000e-06 |
| GCST004067_61 | Hip circumference adjusted for BMI | 3.000000e-13 |
| GCST004557_193 | Body mass index | 2.000000e-10 |
| GCST004557_222 | Body mass index | 8.000000e-08 |
| GCST004557_54 | Body mass index | 2.000000e-07 |
| GCST004557_92 | Body mass index | 2.000000e-10 |
| GCST004558_215 | Body mass index (joint analysis main effects and physical activity interaction) | 2.000000e-09 |
| GCST004558_238 | Body mass index (joint analysis main effects and physical activity interaction) | 2.000000e-06 |
| GCST004558_65 | Body mass index (joint analysis main effects and physical activity interaction) | 5.000000e-10 |
| GCST004558_92 | Body mass index (joint analysis main effects and physical activity interaction) | 3.000000e-07 |
| GCST004559_124 | Body mass index in physically active individuals | 2.000000e-07 |
| GCST004559_46 | Body mass index in physically active individuals | 2.000000e-07 |
| GCST004559_85 | Body mass index in physically active individuals | 4.000000e-06 |
| GCST004603_22 | Platelet count | 3.000000e-17 |
| GCST004607_140 | Plateletcrit | 2.000000e-17 |
| GCST004867_10 | Systemic lupus erythematosus | 2.000000e-08 |
| GCST005185_10 | Fasting blood insulin | 7.000000e-06 |
| GCST005194_132 | Coronary artery disease | 1.000000e-10 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0008002 | physical activity measurement |
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0006941 | grip strength measurement |
| EFO:0004341 | body fat distribution |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0010100 | multisite chronic pain |
| EFO:0005090 | basophil count |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 3 |
| Cyclosporine | increases expression | 3 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| salinomycin | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| NSC668394 | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcitriol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Gold Compounds | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E9W1 | A549 BLTP3A KO clone C2 | Cancer cell line | Male |
| CVCL_E9W2 | A549 BLTP3A KO clone D9 | Cancer cell line | Male |
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): gastroesophageal reflux disease, systemic sclerosis, urinary bladder carcinoma