HACL2
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Also known as 209L8AHASILV2HMGC1269FLJ39061MGC19535HACL1L
Summary
HACL2 (2-hydroxyacyl-CoA lyase 2, HGNC:6041) is a protein-coding gene on chromosome 19p13.12, encoding 2-hydroxyacyl-CoA lyase 2 (A1L0T0). Endoplasmic reticulum 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner.
The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis.
Source: NCBI Gene 10994 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 107 total
- Druggable target: yes
- MANE Select transcript:
NM_006844
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6041 |
| Approved symbol | HACL2 |
| Name | 2-hydroxyacyl-CoA lyase 2 |
| Location | 19p13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | 209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535, HACL1L, HACL2 |
| Ensembl gene | ENSG00000105135 |
| Ensembl biotype | protein_coding |
| OMIM | 605770 |
| Entrez | 10994 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 28 protein_coding, 6 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000263383, ENST00000524779, ENST00000525880, ENST00000527093, ENST00000531635, ENST00000533086, ENST00000533148, ENST00000533747, ENST00000534378, ENST00000534806, ENST00000596093, ENST00000598709, ENST00000599324, ENST00000600984, ENST00000862950, ENST00000862951, ENST00000862952, ENST00000862953, ENST00000862954, ENST00000862955, ENST00000862956, ENST00000862957, ENST00000862958, ENST00000862959, ENST00000862960, ENST00000862961, ENST00000862962, ENST00000862963, ENST00000924995, ENST00000924996, ENST00000953427, ENST00000953428, ENST00000953429, ENST00000953430, ENST00000953431, ENST00000953432
RefSeq mRNA: 1 — MANE Select: NM_006844
NM_006844
CCDS: CCDS12325
Canonical transcript exons
ENST00000263383 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001302663 | 15114987 | 15115430 |
| ENSE00001382503 | 15124925 | 15125069 |
| ENSE00002157083 | 15125656 | 15125786 |
| ENSE00003464667 | 15123375 | 15123576 |
| ENSE00003465726 | 15119166 | 15119302 |
| ENSE00003471256 | 15122693 | 15122804 |
| ENSE00003498752 | 15115850 | 15115921 |
| ENSE00003527741 | 15123116 | 15123243 |
| ENSE00003552695 | 15122892 | 15123030 |
| ENSE00003585831 | 15116408 | 15116522 |
| ENSE00003594286 | 15116001 | 15116071 |
| ENSE00003657778 | 15115566 | 15115671 |
| ENSE00003674335 | 15119418 | 15119515 |
| ENSE00003688846 | 15117881 | 15118015 |
| ENSE00003692753 | 15119982 | 15120081 |
| ENSE00003693971 | 15116152 | 15116321 |
Expression profiles
Bgee: expression breadth ubiquitous, 278 present calls, max score 97.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.0367 / max 122.0122, expressed in 1792 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 179697 | 7.0638 | 1750 |
| 179698 | 3.6547 | 1520 |
| 179695 | 1.3155 | 763 |
| 179696 | 0.7304 | 476 |
| 179694 | 0.2723 | 99 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 97.64 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.53 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.43 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.21 | gold quality |
| transverse colon | UBERON:0001157 | 95.19 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.12 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.91 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.61 | gold quality |
| cardiac atrium | UBERON:0002081 | 94.54 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.37 | gold quality |
| body of stomach | UBERON:0001161 | 94.25 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.25 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.12 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.10 | gold quality |
| pancreatic ductal cell | CL:0002079 | 94.06 | gold quality |
| skin of leg | UBERON:0001511 | 94.05 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.99 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.91 | gold quality |
| heart | UBERON:0000948 | 93.70 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.65 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.58 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.57 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.44 | gold quality |
| thyroid gland | UBERON:0002046 | 93.36 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.21 | gold quality |
| nephron tubule | UBERON:0001231 | 93.12 | gold quality |
| small intestine | UBERON:0002108 | 93.02 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.87 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.83 | gold quality |
| adrenal gland | UBERON:0002369 | 92.83 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting HACL2, 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-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-3908 | 98.75 | 67.31 | 1160 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-3670 | 97.88 | 64.39 | 763 |
| HSA-MIR-3921 | 97.81 | 67.45 | 1431 |
| HSA-MIR-4329 | 97.68 | 66.26 | 1003 |
| HSA-MIR-4640-5P | 97.42 | 66.33 | 1543 |
| HSA-MIR-4726-5P | 97.24 | 65.67 | 1299 |
| HSA-MIR-4653-5P | 97.22 | 67.72 | 1429 |
| HSA-MIR-873-3P | 96.84 | 66.09 | 786 |
| HSA-MIR-6508-3P | 96.73 | 65.48 | 576 |
| HSA-MIR-2861 | 95.24 | 65.47 | 1056 |
Literature-anchored findings (GeneRIF, showing 1)
- To the best of our knowledge, this is the first report of an association between single nucleotide polymorphisms (SNPs) on ILVBL and aspirin-exacerbated respiratory disease (AERD) . SNPs on ILVBL could be promising genetic markers of this condition. (PMID:29246216)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ilvbl | ENSDARG00000017126 |
| mus_musculus | Ilvbl | ENSMUSG00000032763 |
| rattus_norvegicus | Ilvbl | ENSRNOG00000028512 |
| caenorhabditis_elegans | WBGENE00020831 |
Paralogs (1): HACL1 (ENSG00000131373)
Protein
Protein identifiers
2-hydroxyacyl-CoA lyase 2 — A1L0T0 (reviewed: A1L0T0)
Alternative names: Acetolactate synthase-like protein, IlvB-like protein
All UniProt accessions (7): A1L0T0, E9PJS0, E9PL44, E9PNL1, M0QZX5, M0R026, M0R1B5
UniProt curated annotations — full annotation on UniProt →
Function. Endoplasmic reticulum 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner. Involved in the phytosphingosine degradation pathway.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Expressed in all tissues tested, with highest expression in heart, pancreas and placenta.
Cofactor. Binds 1 Mg(2+) ion per subunit. Binds 1 thiamine pyrophosphate per subunit.
Similarity. Belongs to the TPP enzyme family.
RefSeq proteins (1): NP_006835* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000399 | TPP-bd_CS | Conserved_site |
| IPR011766 | TPP_enzyme_TPP-bd | Domain |
| IPR012000 | Thiamin_PyroP_enz_cen_dom | Domain |
| IPR012001 | Thiamin_PyroP_enz_TPP-bd_dom | Domain |
| IPR029035 | DHS-like_NAD/FAD-binding_dom | Homologous_superfamily |
| IPR029061 | THDP-binding | Homologous_superfamily |
| IPR045229 | TPP_enz | Family |
Pfam: PF00205, PF02775, PF02776
Catalyzed reactions (Rhea), 2 shown:
- 2-hydroxyoctadecanoyl-CoA = heptadecanal + formyl-CoA (RHEA:55196)
- (2R)-hydroxyhexadecanoyl-CoA = pentadecanal + formyl-CoA (RHEA:55212)
UniProt features (8 total): binding site 3, sequence variant 2, chain 1, transmembrane region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A1L0T0-F1 | 94.53 | 0.89 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 98; 521; 547
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 154 (showing top):
MORF_MTA1, GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, MORF_PPP5C, MORF_FANCG, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, CREB_Q2_01, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, MORF_IKBKG
GO Biological Process (5): fatty acid alpha-oxidation (GO:0001561), obsolete isoleucine biosynthetic process (GO:0009097), L-valine biosynthetic process (GO:0009099), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)
GO Molecular Function (8): magnesium ion binding (GO:0000287), acetolactate synthase activity (GO:0003984), lyase activity (GO:0016829), thiamine pyrophosphate binding (GO:0030976), flavin adenine dinucleotide binding (GO:0050660), catalytic activity (GO:0003824), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), acetolactate synthase complex (GO:0005948), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| anion binding | 2 |
| cation binding | 2 |
| cytoplasm | 2 |
| fatty acid catabolic process | 1 |
| fatty acid oxidation | 1 |
| pyruvate family amino acid biosynthetic process | 1 |
| branched-chain amino acid biosynthetic process | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| metal ion binding | 1 |
| transketolase or transaldolase activity | 1 |
| catalytic activity | 1 |
| vitamin binding | 1 |
| quaternary ammonium group binding | 1 |
| heterocyclic compound binding | 1 |
| sulfur compound binding | 1 |
| nucleotide binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| transferase complex | 1 |
| cellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2222 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HACL2 | SYDE1 | Q6ZW31 | 538 |
| HACL2 | EPHX3 | Q9H6B9 | 527 |
| HACL2 | LENG8 | Q96PV6 | 480 |
| HACL2 | XYLB | O75191 | 435 |
| HACL2 | OR14A16 | Q8NHC5 | 419 |
| HACL2 | MYC | P01106 | 391 |
| HACL2 | FH | P07954 | 390 |
| HACL2 | HAO2 | Q9NYQ3 | 390 |
| HACL2 | PPCS | Q9HAB8 | 384 |
| HACL2 | MYRFL | Q96LU7 | 379 |
| HACL2 | TEKTL1 | Q8IYK2 | 376 |
| HACL2 | PSAT1 | Q9Y617 | 376 |
| HACL2 | H6PD | O95479 | 370 |
| HACL2 | IARS1 | P41252 | 360 |
| HACL2 | SDSL | Q96GA7 | 357 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| GBA2 | ILVBL | psi-mi:“MI:0914”(association) | 0.640 |
| ILVBL | COG7 | psi-mi:“MI:0914”(association) | 0.640 |
| COG7 | ILVBL | psi-mi:“MI:0914”(association) | 0.640 |
| ILVBL | CEP76 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PICK1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| ILK | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| DPEP1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | EIF2B5 | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| RHOBTB3 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| SLC6A8 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| ZMYM4 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| FLT4 | ILVBL | psi-mi:“MI:0914”(association) | 0.420 |
| COL14A1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| TOM1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.370 |
| ATXN1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.370 |
| Dctn3 | psi-mi:“MI:0914”(association) | 0.350 | |
| SKA1 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (255): CEP76 (Two-hybrid), ILVBL (Affinity Capture-MS), ILVBL (Affinity Capture-MS), ATP1B1 (Co-fractionation), CYC1 (Co-fractionation), HSD17B14 (Co-fractionation), ILVBL (Co-fractionation), ILVBL (Co-fractionation), ILVBL (Co-fractionation), ILVBL (Co-fractionation), ILVBL (Co-fractionation), ILVBL (Co-fractionation), ILVBL (Co-fractionation), ILVBL (Co-fractionation), MTCH1 (Co-fractionation)
ESM2 similar proteins: A0A7J6EK66, A0A803PDZ0, A1L0T0, A2ATU0, A2XFI3, A2Y5L9, A2YQ76, A6QQT9, A7YWE4, O22567, O61856, O78328, O82647, P20906, P28516, P33287, P39994, P51845, P51846, P51850, P51851, P66947, P9WG38, P9WG39, Q0D3D2, Q0DHF6, Q0JMH0, Q10MW3, Q38854, Q3JAD1, Q3MHH6, Q3U4I7, Q4KLP0, Q5RAP5, Q68FT3, Q6DDK5, Q6JQN1, Q6NV04, Q6YU51, Q8BU33
Diamond homologs: A1L0T0, A6QQT9, O05031, O61856, P33287, P66947, P9WG38, P9WG39, Q58077, Q6DDK5, Q6NV04, Q8BU33, B9LNE4, A0A2I2F2I5, A4IPB6, B2TJ86, O06335, O08353, O19929, O33112, O78518, O85293, P00893, P07342, P08142, P09114, P09342, P0A623, P0AEP7, P0AEP8, P0DP89, P0DP90, P14874, P17597, P27696, P27818, P27819, P27868, P36620, P37063
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 113 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| SLC-mediated transmembrane transport | 9 | 6.2× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| amino acid transport | 8 | 23.6× | 1e-06 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 5 | 15.9× | 7e-03 |
| cell surface receptor protein tyrosine kinase signaling pathway | 6 | 9.8× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 12 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2493 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:15115427:TAAT:T | acceptor_gain | 1.0000 |
| 19:15115431:C:CC | acceptor_gain | 1.0000 |
| 19:15115829:C:A | donor_gain | 1.0000 |
| 19:15115845:GTCAC:G | donor_loss | 1.0000 |
| 19:15115846:TCAC:T | donor_loss | 1.0000 |
| 19:15115847:CAC:C | donor_loss | 1.0000 |
| 19:15115849:C:T | donor_loss | 1.0000 |
| 19:15116145:T:TA | donor_gain | 1.0000 |
| 19:15116147:CTT:C | donor_loss | 1.0000 |
| 19:15116148:TTA:T | donor_loss | 1.0000 |
| 19:15116149:TA:T | donor_loss | 1.0000 |
| 19:15116150:A:AC | donor_gain | 1.0000 |
| 19:15116150:A:AG | donor_loss | 1.0000 |
| 19:15116151:C:CC | donor_gain | 1.0000 |
| 19:15116227:C:CT | donor_gain | 1.0000 |
| 19:15116228:C:CT | donor_gain | 1.0000 |
| 19:15116318:CTCC:C | acceptor_gain | 1.0000 |
| 19:15116320:CC:C | acceptor_gain | 1.0000 |
| 19:15116321:CC:C | acceptor_gain | 1.0000 |
| 19:15116322:C:CC | acceptor_gain | 1.0000 |
| 19:15116323:T:A | acceptor_loss | 1.0000 |
| 19:15116326:G:T | acceptor_gain | 1.0000 |
| 19:15117875:GCTCA:G | donor_loss | 1.0000 |
| 19:15117876:CTCA:C | donor_loss | 1.0000 |
| 19:15117877:TCA:T | donor_loss | 1.0000 |
| 19:15117878:CAC:C | donor_loss | 1.0000 |
| 19:15117879:A:AC | donor_gain | 1.0000 |
| 19:15117879:A:AT | donor_loss | 1.0000 |
| 19:15117879:AC:A | donor_gain | 1.0000 |
| 19:15117880:C:CC | donor_gain | 1.0000 |
AlphaMissense
4041 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:15123401:G:T | A104D | 0.993 |
| 19:15115635:A:G | W551R | 0.990 |
| 19:15115635:A:T | W551R | 0.990 |
| 19:15115883:G:C | S527R | 0.989 |
| 19:15115883:G:T | S527R | 0.989 |
| 19:15115885:T:G | S527R | 0.989 |
| 19:15123398:G:T | A105D | 0.989 |
| 19:15116037:A:C | F502L | 0.986 |
| 19:15116037:A:T | F502L | 0.986 |
| 19:15116039:A:G | F502L | 0.986 |
| 19:15123407:A:T | V102D | 0.986 |
| 19:15115300:G:C | N617K | 0.985 |
| 19:15115300:G:T | N617K | 0.985 |
| 19:15116053:C:T | G497E | 0.984 |
| 19:15116224:C:G | D467H | 0.984 |
| 19:15123393:C:G | A107P | 0.984 |
| 19:15116054:C:G | G497R | 0.983 |
| 19:15116054:C:T | G497R | 0.983 |
| 19:15120051:A:C | F249L | 0.982 |
| 19:15120051:A:T | F249L | 0.982 |
| 19:15120053:A:G | F249L | 0.982 |
| 19:15123399:C:G | A105P | 0.982 |
| 19:15123403:A:C | F103L | 0.982 |
| 19:15123403:A:T | F103L | 0.982 |
| 19:15123405:A:G | F103L | 0.982 |
| 19:15123419:T:A | E98V | 0.982 |
| 19:15123426:G:T | R96S | 0.982 |
| 19:15116053:C:A | G497V | 0.980 |
| 19:15117999:G:C | F356L | 0.980 |
| 19:15117999:G:T | F356L | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000164561 (19:15117713 A>G), RS1000201223 (19:15123460 G>A), RS1000820197 (19:15123301 G>A,C), RS1001052542 (19:15124542 C>G), RS1001483880 (19:15122704 T>C,G), RS1002326123 (19:15114621 C>A,G,T), RS1002732104 (19:15120946 C>T), RS1002823944 (19:15125824 G>A), RS1003230332 (19:15127328 A>G), RS1004486215 (19:15126527 A>G), RS1004843147 (19:15121383 T>C), RS1004953511 (19:15124201 G>C,T), RS1005005869 (19:15123950 G>A), RS1005266394 (19:15118876 C>A,T), RS1005294548 (19:15124249 G>A)
Disease associations
OMIM: gene MIM:605770 | 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):
| Study | Trait | p-value |
|---|---|---|
| GCST000253_12 | Attention deficit hyperactivity disorder and conduct disorder | 8.000000e-06 |
| GCST003771_20 | Loneliness | 8.000000e-07 |
| GCST009391_646 | Metabolite levels | 9.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007865 | loneliness measurement |
| EFO:0010504 | inositol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066527 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.00 | Kd | 1.004e+04 | nM | CHEMBL5653589 |
| 5.00 | ED50 | 1.004e+04 | nM | CHEMBL5653589 |
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| beta-Naphthoflavone | decreases expression | 2 |
| bisphenol F | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenite | increases expression, increases abundance | 1 |
| cobaltous chloride | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| triacsin C | decreases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | increases abundance, increases oxidation, affects cotreatment | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Cadmium | increases expression, increases abundance | 1 |
| Coumestrol | increases expression, affects cotreatment | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Ozone | increases abundance, affects cotreatment, increases oxidation | 1 |
| Tunicamycin | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651627 | Binding | Binding affinity to human ILVBL incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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): conduct disorder