HSDL2
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Also known as SDR13C1
Summary
HSDL2 (hydroxysteroid dehydrogenase like 2, HGNC:18572) is a protein-coding gene on chromosome 9q32, encoding Hydroxysteroid dehydrogenase-like protein 2 (Q6YN16). Has apparently no steroid dehydrogenase activity.
Predicted to enable oxidoreductase activity. Involved in cholesterol homeostasis. Located in mitochondrion and peroxisome.
Source: NCBI Gene 84263 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 50 total
- Druggable target: yes
- MANE Select transcript:
NM_032303
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18572 |
| Approved symbol | HSDL2 |
| Name | hydroxysteroid dehydrogenase like 2 |
| Location | 9q32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SDR13C1 |
| Ensembl gene | ENSG00000119471 |
| Ensembl biotype | protein_coding |
| Entrez | 84263 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 21 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000398803, ENST00000398805, ENST00000467434, ENST00000480881, ENST00000488101, ENST00000860565, ENST00000860566, ENST00000860567, ENST00000860568, ENST00000860569, ENST00000860570, ENST00000860571, ENST00000860572, ENST00000860573, ENST00000860574, ENST00000860575, ENST00000929491, ENST00000942134, ENST00000942135, ENST00000942136, ENST00000942137, ENST00000942138, ENST00000942139, ENST00000942140
RefSeq mRNA: 2 — MANE Select: NM_032303
NM_001195822, NM_032303
CCDS: CCDS43864, CCDS56582
Canonical transcript exons
ENST00000398805 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000926858 | 112459449 | 112459577 |
| ENSE00001534954 | 112470432 | 112472405 |
| ENSE00001812440 | 112380108 | 112380180 |
| ENSE00003461240 | 112454013 | 112454162 |
| ENSE00003503188 | 112408907 | 112409021 |
| ENSE00003548369 | 112441699 | 112441770 |
| ENSE00003615191 | 112403995 | 112404158 |
| ENSE00003617051 | 112416841 | 112416944 |
| ENSE00003623188 | 112418860 | 112418958 |
| ENSE00003625463 | 112438431 | 112438625 |
| ENSE00003626224 | 112405624 | 112405722 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 98.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.0621 / max 589.4630, expressed in 1812 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 98048 | 28.1476 | 1811 |
| 98049 | 3.9145 | 1383 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 98.18 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.77 | gold quality |
| biceps brachii | UBERON:0001507 | 97.61 | gold quality |
| diaphragm | UBERON:0001103 | 97.60 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.51 | gold quality |
| triceps brachii | UBERON:0001509 | 97.28 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.22 | gold quality |
| deltoid | UBERON:0001476 | 97.18 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 96.99 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.74 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.65 | gold quality |
| muscle of leg | UBERON:0001383 | 96.63 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.62 | gold quality |
| gluteal muscle | UBERON:0002000 | 96.62 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.41 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.36 | gold quality |
| muscle organ | UBERON:0001630 | 96.30 | gold quality |
| muscle tissue | UBERON:0002385 | 96.12 | gold quality |
| body of tongue | UBERON:0011876 | 96.01 | gold quality |
| nephron tubule | UBERON:0001231 | 95.98 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 95.98 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.81 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.64 | gold quality |
| liver | UBERON:0002107 | 95.57 | gold quality |
| myocardium | UBERON:0002349 | 95.56 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.51 | gold quality |
| jejunum | UBERON:0002115 | 95.29 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 95.15 | gold quality |
| heart | UBERON:0000948 | 95.12 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.08 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
74 targeting HSDL2, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-12129 | 99.72 | 67.45 | 1311 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
Literature-anchored findings (GeneRIF, showing 10)
- High expression of HSDL2 is associated with glioma. (PMID:27658777)
- Study shows that HSDL2 upregulation is associated with ovarian cancer progression. HSDL2 knockdown inhibited cell proliferation, colony formation, motility, and tumorigenesis. (PMID:29894468)
- Hydroxysteroid dehydrogenase like 2 (HSDL2) expression was increased in papillary thyroid carcinoma (PTC) tissues and cells, which could promote tumor progression in vitro and in vivo. (PMID:31101684)
- Study reported that HSDL2 was upregulated in two human bladder cancer cell lines 5637 and T24 compared to normal human urothelial cells. Lentiviral-mediated HSDL2 knockdown inhibited the proliferation and colony formation while promoted the apoptosis of human bladder cancer T24 cells in vitro and in nude mice T24 derived xenografts in vivo. Results suggest that HSDL2 plays an oncogenic role in bladder cancer. (PMID:31217732)
- Knockdown of HSDL2 inhibits lung adenocarcinoma progression via down-regulating AKT2 expression. (PMID:32211805)
- Lipid metabolism regulator human hydroxysteroid dehydrogenase-like 2 (HSDL2) modulates cervical cancer cell proliferation and metastasis. (PMID:33738911)
- [HSDL2 overexpression promotes rectal cancer progression by regulating cancer cell cycle and promoting cell proliferation]. (PMID:37202189)
- HSDL2 knockdown promotes the progression of cholangiocarcinoma by inhibiting ferroptosis through the P53/SLC7A11 axis. (PMID:37718459)
- HSDL2 links nutritional cues to bile acid and cholesterol homeostasis. (PMID:38820148)
- Circular RNA HSDL2 promotes breast cancer progression via miR-7978 ZNF704 axis and regulating hippo signaling pathway. (PMID:38937788)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hsdl2 | ENSDARG00000002523 |
| mus_musculus | Hsdl2 | ENSMUSG00000028383 |
| rattus_norvegicus | Hsdl2 | ENSRNOG00000016692 |
| drosophila_melanogaster | Hsdl2 | FBGN0039537 |
| caenorhabditis_elegans | WBGENE00000970 | |
| caenorhabditis_elegans | WBGENE00000975 | |
| caenorhabditis_elegans | WBGENE00000981 | |
| caenorhabditis_elegans | WBGENE00008985 | |
| caenorhabditis_elegans | WBGENE00008986 | |
| caenorhabditis_elegans | WBGENE00011424 | |
| caenorhabditis_elegans | WBGENE00022809 |
Paralogs (13): RDH8 (ENSG00000080511), DHRS7 (ENSG00000100612), DHRS2 (ENSG00000100867), DHRS7B (ENSG00000109016), HSD11B1 (ENSG00000117594), DHRS4 (ENSG00000157326), DHRS1 (ENSG00000157379), CBR1 (ENSG00000159228), CBR3 (ENSG00000159231), HSD11B1L (ENSG00000167733), DHRS7C (ENSG00000184544), DHRS4L2 (ENSG00000187630), DHRS11 (ENSG00000278535)
Protein
Protein identifiers
Hydroxysteroid dehydrogenase-like protein 2 — Q6YN16 (reviewed: Q6YN16)
Alternative names: Short chain dehydrogenase/reductase family 13C member 1
All UniProt accessions (1): Q6YN16
UniProt curated annotations — full annotation on UniProt →
Function. Has apparently no steroid dehydrogenase activity. Controls bile acid (BA) and lipid metabolism in response to nutritional cues.
Subcellular location. Peroxisome. Mitochondrion.
Tissue specificity. Ubiquitous.
Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6YN16-1 | 1 | yes |
| Q6YN16-2 | 2 |
RefSeq proteins (2): NP_001182751, NP_115679* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002347 | SDR_fam | Family |
| IPR003033 | SCP2_sterol-bd_dom | Domain |
| IPR020904 | Sc_DH/Rdtase_CS | Conserved_site |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
| IPR036527 | SCP2_sterol-bd_dom_sf | Homologous_superfamily |
| IPR051935 | HSDL2 | Family |
Pfam: PF00106, PF02036
UniProt features (40 total): helix 12, strand 10, turn 5, binding site 4, modified residue 3, sequence conflict 2, chain 1, domain 1, splice variant 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3KVO | X-RAY DIFFRACTION | 2.25 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6YN16-F1 | 89.91 | 0.74 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 168 (proton acceptor)
Ligand- & substrate-binding residues (4): 17–23; 42; 74; 172
Post-translational modifications (3): 42, 116, 318
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 177 (showing top):
GOBP_STEROL_HOMEOSTASIS, GOBP_LIPID_HOMEOSTASIS, GAZDA_DIAMOND_BLACKFAN_ANEMIA_PROGENITOR_DN, CHIANG_LIVER_CANCER_SUBCLASS_INTERFERON_DN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, MAYBURD_RESPONSE_TO_L663536_DN, CUI_TCF21_TARGETS_2_DN, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, WENG_POR_TARGETS_GLOBAL_DN, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP, GOBP_HOMEOSTATIC_PROCESS, GOCC_MICROBODY, LIU_SOX4_TARGETS_UP, GOBP_CHEMICAL_HOMEOSTASIS, STAT5A_02
GO Biological Process (1): cholesterol homeostasis (GO:0042632)
GO Molecular Function (1): oxidoreductase activity (GO:0016491)
GO Cellular Component (3): mitochondrion (GO:0005739), peroxisome (GO:0005777), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| sterol homeostasis | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| microbody | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
5204 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HSDL2 | SCP2 | P22307 | 481 |
| HSDL2 | MCCC2 | Q9HCC0 | 477 |
| HSDL2 | NUDT19 | A8MXV4 | 453 |
| HSDL2 | PCCB | P05166 | 453 |
| HSDL2 | ACAD11 | Q709F0 | 449 |
| HSDL2 | ANKRD42 | Q8N9B4 | 447 |
| HSDL2 | ETFDH | Q16134 | 441 |
| HSDL2 | FASN | P49327 | 434 |
| HSDL2 | BSDC1 | Q9NW68 | 433 |
| HSDL2 | MCEE | Q96PE7 | 422 |
| HSDL2 | ECI2 | O75521 | 420 |
| HSDL2 | SYCP2L | Q5T4T6 | 419 |
| HSDL2 | WDR97 | A6NE52 | 408 |
| HSDL2 | ACOX1 | Q15067 | 393 |
| HSDL2 | DNAI1 | Q9UI46 | 393 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HRAS | MTHFD2 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| NDUFS6 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| PRPS1 | NMT2 | psi-mi:“MI:0914”(association) | 0.640 |
| LHFPL4 | ATP5F1B | psi-mi:“MI:0914”(association) | 0.530 |
| VAPB | psi-mi:“MI:0914”(association) | 0.500 | |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| HSCB | NDUFS8 | psi-mi:“MI:0914”(association) | 0.460 |
| HSDL2 | ENO1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Bub1 | PEX10 | psi-mi:“MI:0914”(association) | 0.350 |
| HDAC1 | TRAK1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| E2F3 | psi-mi:“MI:0914”(association) | 0.350 | |
| KIF3A | KIF3B | psi-mi:“MI:0914”(association) | 0.350 |
| MAPK6 | psi-mi:“MI:0914”(association) | 0.350 | |
| PLEKHA7 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| DLD | NFKBIE | psi-mi:“MI:0914”(association) | 0.350 |
| DLST | psi-mi:“MI:0914”(association) | 0.350 | |
| PDHA1 | psi-mi:“MI:0914”(association) | 0.350 | |
| DLD | IRS4 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| COQ9 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKCB | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| PPM1A | BCKDK | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAP | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (160): HSDL2 (Co-fractionation), HSDL2 (Co-fractionation), SF1 (Co-fractionation), TAGLN2 (Co-fractionation), TRAP1 (Co-fractionation), HSDL2 (Synthetic Lethality), HSDL2 (Proximity Label-MS), HSDL2 (Proximity Label-MS), HSDL2 (Proximity Label-MS), HSDL2 (Proximity Label-MS), HSDL2 (Affinity Capture-MS), HSDL2 (Affinity Capture-MS), HSDL2 (Affinity Capture-MS), HSDL2 (Affinity Capture-MS), MIPEP (Affinity Capture-MS)
ESM2 similar proteins: A2VCW9, A4FUZ6, A8E657, A8XKG6, O02485, O08699, O17732, O48905, P11708, P13228, P14152, P15428, P46794, P51659, P51660, P57106, P70684, P93819, P97852, Q01373, Q08062, Q16698, Q29LW1, Q2TPA8, Q32PF2, Q3T0C2, Q3T145, Q4V8F9, Q54VM2, Q55FT1, Q59987, Q5RA68, Q66KC4, Q6DIY9, Q6P5L8, Q6PAB3, Q6PAY8, Q6YN16, Q7XDC8, Q7YRU4
Diamond homologs: A0A097ZPE8, A0A0S2CGD3, A0A140FAN3, A0A144Y7G4, A0A162J3X8, A0A1U8QWA2, A0A1V0QSC6, A0A1W5SR39, A0QYC2, A4FUZ6, A4IGM4, A6SSW9, A7IQF2, A7IQH5, A7LB60, B6HV34, C0KTJ6, F1QWW8, G9FRD7, G9N4A9, O34782, O86034, P0A2D1, P0A2D2, P0DKC5, P0DKC6, P14802, P16544, P37059, P37440, P39831, P50171, P54554, P66778, P66780, P73574, P9WGS0, P9WGS1, P9WGS2, P9WGS3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 98 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 |
|---|---|---|---|
| VEGFR2 mediated cell proliferation | 5 | 36.1× | 4e-05 |
| Peroxisomal protein import | 5 | 10.9× | 2e-03 |
| Signaling by BRAF and RAF1 fusions | 5 | 10.8× | 2e-03 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 5 | 9.8× | 3e-03 |
| Mitochondrial protein degradation | 6 | 8.7× | 2e-03 |
| Anchoring of the basal body to the plasma membrane | 5 | 7.2× | 6e-03 |
| Organelle biogenesis and maintenance | 6 | 5.0× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 5 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1866 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:112380158:A:T | donor_gain | 1.0000 |
| 9:112403991:GTAG:G | acceptor_loss | 1.0000 |
| 9:112403992:TAG:T | acceptor_loss | 1.0000 |
| 9:112403993:AGG:A | acceptor_loss | 1.0000 |
| 9:112403994:G:A | acceptor_loss | 1.0000 |
| 9:112403994:GGA:G | acceptor_gain | 1.0000 |
| 9:112404154:AGAAA:A | donor_gain | 1.0000 |
| 9:112404155:GAAA:G | donor_gain | 1.0000 |
| 9:112404155:GAAAG:G | donor_gain | 1.0000 |
| 9:112404156:A:T | donor_gain | 1.0000 |
| 9:112404157:AA:A | donor_gain | 1.0000 |
| 9:112404158:AG:A | donor_loss | 1.0000 |
| 9:112404159:G:GG | donor_gain | 1.0000 |
| 9:112405607:T:TA | acceptor_gain | 1.0000 |
| 9:112405610:A:AG | acceptor_gain | 1.0000 |
| 9:112405611:T:G | acceptor_gain | 1.0000 |
| 9:112405617:A:AG | acceptor_gain | 1.0000 |
| 9:112405619:A:AG | acceptor_gain | 1.0000 |
| 9:112405620:T:G | acceptor_gain | 1.0000 |
| 9:112405620:TAAG:T | acceptor_loss | 1.0000 |
| 9:112405621:A:AG | acceptor_gain | 1.0000 |
| 9:112405621:AAGTT:A | acceptor_gain | 1.0000 |
| 9:112405622:A:C | acceptor_loss | 1.0000 |
| 9:112405622:A:G | acceptor_gain | 1.0000 |
| 9:112405623:G:GA | acceptor_gain | 1.0000 |
| 9:112405623:GTT:G | acceptor_gain | 1.0000 |
| 9:112405720:G:GT | donor_gain | 1.0000 |
| 9:112405724:T:A | donor_loss | 1.0000 |
| 9:112408902:AACAG:A | acceptor_loss | 1.0000 |
| 9:112408903:ACAGG:A | acceptor_loss | 1.0000 |
AlphaMissense
2774 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:112408933:A:C | S103R | 0.998 |
| 9:112408935:T:A | S103R | 0.998 |
| 9:112408935:T:G | S103R | 0.998 |
| 9:112416899:A:C | S152R | 0.996 |
| 9:112416901:T:A | S152R | 0.996 |
| 9:112416901:T:G | S152R | 0.996 |
| 9:112438489:A:C | R219S | 0.996 |
| 9:112438489:A:T | R219S | 0.996 |
| 9:112438488:G:C | R219T | 0.995 |
| 9:112418887:C:T | S176F | 0.994 |
| 9:112418946:T:A | W196R | 0.994 |
| 9:112418946:T:C | W196R | 0.994 |
| 9:112418940:G:C | A194P | 0.993 |
| 9:112409001:C:A | N125K | 0.992 |
| 9:112409001:C:G | N125K | 0.992 |
| 9:112438511:G:C | A227P | 0.992 |
| 9:112408926:T:A | N100K | 0.991 |
| 9:112408926:T:G | N100K | 0.991 |
| 9:112418876:G:C | K172N | 0.991 |
| 9:112418876:G:T | K172N | 0.991 |
| 9:112438434:T:A | I201K | 0.991 |
| 9:112408934:G:T | S103I | 0.990 |
| 9:112408937:C:A | A104D | 0.990 |
| 9:112408985:T:C | L120P | 0.989 |
| 9:112418935:T:A | V192D | 0.989 |
| 9:112418939:T:A | N193K | 0.989 |
| 9:112418939:T:G | N193K | 0.989 |
| 9:112418944:T:C | L195S | 0.989 |
| 9:112418871:G:C | A171P | 0.988 |
| 9:112418886:T:C | S176P | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000013126 (9:112462725 A>G), RS1000019981 (9:112469983 T>C), RS1000023997 (9:112389982 T>C,G), RS1000131795 (9:112383201 G>A), RS1000186045 (9:112443837 C>T), RS1000300419 (9:112419246 C>T), RS1000364572 (9:112463224 G>T), RS1000399337 (9:112440243 TATG>T), RS1000404200 (9:112396512 A>G), RS1000431524 (9:112413867 A>G), RS1000439162 (9:112435978 A>G), RS1000450509 (9:112412878 C>A,T), RS1000498375 (9:112455546 G>C,T), RS1000584365 (9:112402957 AC>A), RS1000585371 (9:112383582 T>C)
Disease associations
OMIM: gene `` | 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 |
|---|---|---|
| GCST003264_83 | Post bronchodilator FEV1/FVC ratio | 2.000000e-06 |
| GCST004735_26 | Epstein-Barr virus copy number in lymphoblastoid cell lines | 3.000000e-06 |
| GCST010397_66 | Gut microbiota (bacterial taxa, rank normal transformation method) | 5.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004713 | FEV/FVC ratio |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067292 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 2 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.00 | Kd | 9945 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148545: Binding affinity to human HSDL2 incubated for 45 mins by Kinobead based pull down assay | kd | 9.9450 | uM |
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 6 |
| bisphenol A | affects expression, decreases expression, increases expression | 3 |
| Tetrachlorodibenzodioxin | affects expression, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| trichostatin A | affects expression, increases expression | 2 |
| Cisplatin | increases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 22-hydroxycholesterol | affects binding, affects cotreatment | 1 |
| triphenyl phosphate | affects expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| decanoyl-coenzyme A | affects binding, affects cotreatment | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| lauroyl-coenzyme A | affects binding, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| GW 501516 | affects binding, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Decitabine | decreases expression | 1 |
| Acetaminophen | affects expression | 1 |
| Azathioprine | decreases expression | 1 |
| Cadmium | increases 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 |
|---|---|---|---|
| CHEMBL5651587 | Binding | Binding affinity to human HSDL2 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): Epstein-Barr virus infection