SCLY
gene geneOn this page
Also known as SCL
Summary
SCLY (selenocysteine lyase, HGNC:18161) is a protein-coding gene on chromosome 2q37.3, encoding Selenocysteine lyase (Q96I15). Catalyzes the decomposition of L-selenocysteine to L-alanine and elemental selenium.
Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).
Source: NCBI Gene 51540 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 90 total
- Druggable target: yes
- MANE Select transcript:
NM_016510
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18161 |
| Approved symbol | SCLY |
| Name | selenocysteine lyase |
| Location | 2q37.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SCL |
| Ensembl gene | ENSG00000132330 |
| Ensembl biotype | protein_coding |
| OMIM | 611056 |
| Entrez | 51540 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 15 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000254663, ENST00000409736, ENST00000412508, ENST00000413463, ENST00000416757, ENST00000423324, ENST00000431487, ENST00000433750, ENST00000437134, ENST00000440143, ENST00000443532, ENST00000446202, ENST00000450965, ENST00000463433, ENST00000480357, ENST00000480859, ENST00000482031, ENST00000487197, ENST00000497256, ENST00000497951, ENST00000651534, ENST00000904188, ENST00000904189, ENST00000904190, ENST00000904191, ENST00000940678
RefSeq mRNA: 1 — MANE Select: NM_016510
NM_016510
CCDS: CCDS2524
Canonical transcript exons
ENST00000254663 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001623065 | 238061001 | 238061143 |
| ENSE00001914431 | 238098202 | 238099413 |
| ENSE00003493278 | 238083248 | 238083354 |
| ENSE00003520822 | 238082045 | 238082209 |
| ENSE00003521332 | 238093861 | 238093944 |
| ENSE00003551615 | 238096801 | 238096876 |
| ENSE00003580996 | 238064357 | 238064469 |
| ENSE00003592015 | 238069297 | 238069477 |
| ENSE00003625048 | 238091218 | 238091254 |
| ENSE00003627610 | 238081709 | 238081836 |
| ENSE00003628860 | 238068065 | 238068165 |
| ENSE00003635770 | 238094420 | 238094522 |
Expression profiles
Bgee: expression breadth ubiquitous, 180 present calls, max score 92.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6852 / max 54.6202, expressed in 1718 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 26319 | 8.1320 | 1705 |
| 26320 | 0.5531 | 315 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 92.25 | gold quality |
| body of pancreas | UBERON:0001150 | 88.82 | gold quality |
| granulocyte | CL:0000094 | 85.99 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 85.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.20 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.98 | gold quality |
| left testis | UBERON:0004533 | 84.73 | gold quality |
| right testis | UBERON:0004534 | 84.62 | gold quality |
| pancreas | UBERON:0001264 | 84.10 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.43 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 82.04 | gold quality |
| testis | UBERON:0000473 | 81.83 | gold quality |
| monocyte | CL:0000576 | 81.78 | gold quality |
| cerebellum | UBERON:0002037 | 81.69 | gold quality |
| ganglionic eminence | UBERON:0004023 | 81.38 | gold quality |
| leukocyte | CL:0000738 | 81.27 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.15 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.11 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 81.11 | gold quality |
| body of uterus | UBERON:0009853 | 81.11 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 81.06 | gold quality |
| mononuclear cell | CL:0000842 | 81.02 | gold quality |
| apex of heart | UBERON:0002098 | 80.89 | gold quality |
| metanephros cortex | UBERON:0010533 | 80.69 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.39 | gold quality |
| ventricular zone | UBERON:0003053 | 80.36 | gold quality |
| left uterine tube | UBERON:0001303 | 80.02 | gold quality |
| lower esophagus | UBERON:0013473 | 80.02 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 80.02 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.87 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7606 | no | 361.93 |
| E-ANND-3 | no | 3.08 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting SCLY, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-202-5P | 99.78 | 67.65 | 991 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-3685 | 99.62 | 68.83 | 1621 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-141-5P | 99.57 | 67.86 | 897 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-5697 | 99.39 | 67.74 | 1249 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-488-5P | 99.28 | 68.12 | 821 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-181A-2-3P | 98.91 | 67.60 | 1168 |
| HSA-MIR-4424 | 98.91 | 70.33 | 1145 |
| HSA-MIR-384 | 98.71 | 67.34 | 1229 |
| HSA-MIR-518C-5P | 98.53 | 69.20 | 1640 |
| HSA-MIR-6509-3P | 98.32 | 67.33 | 1343 |
| HSA-MIR-6732-3P | 98.17 | 67.52 | 802 |
| HSA-MIR-299-3P | 97.73 | 66.67 | 773 |
| HSA-MIR-890 | 97.47 | 68.67 | 982 |
| HSA-MIR-4475 | 97.36 | 66.95 | 761 |
Literature-anchored findings (GeneRIF, showing 4)
- PMID:10692412 concerns mostly mouse selenocysteine lyase, however, refers to the sequence of the N-terminal region of putative human protein. (PMID:10692412)
- Results confirm that HCV core protein is associated with specific changes in mRNA expression, including the gene for selenocysteine lyase, which may be involved in the pathophysiology of hepatocellular carcinoma. (PMID:16925092)
- A reaction mechanism whereby the Selenocysteine over Cysteine specificity is achieved using a combination of chemical and physico-mechanical control mechanisms. (PMID:22291978)
- the X-ray crystal structure of human selenocysteine lyase and the key residue that provides the selenocysteine specificity (PMID:22295093)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scly | ENSDARG00000073813 |
| mus_musculus | Scly | ENSMUSG00000026307 |
| rattus_norvegicus | Scly | ENSRNOG00000020083 |
| caenorhabditis_elegans | WBGENE00017442 |
Paralogs (1): NFS1 (ENSG00000244005)
Protein
Protein identifiers
Selenocysteine lyase — Q96I15 (reviewed: Q96I15)
All UniProt accessions (12): Q96I15, A0A0A0MQU4, C9JNL5, F8WBU3, F8WCL3, H7C1N7, H7C277, H7C280, H7C2H3, H7C2M1, H7C3V9, H7C4A1
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the decomposition of L-selenocysteine to L-alanine and elemental selenium.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm. Cytosol.
Induction. Up-regulated in acute glomerulonephritis. Regulated by JUN/AP-1.
Similarity. Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96I15-1 | 1 | yes |
| Q96I15-2 | 2 |
RefSeq proteins (1): NP_057594* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000192 | Aminotrans_V_dom | Domain |
| IPR015421 | PyrdxlP-dep_Trfase_major | Homologous_superfamily |
| IPR015422 | PyrdxlP-dep_Trfase_small | Homologous_superfamily |
| IPR015424 | PyrdxlP-dep_Trfase | Homologous_superfamily |
| IPR016454 | Cysteine_dSase | Family |
Pfam: PF00266
Enzyme classification (BRENDA):
- EC 4.4.1.16 — selenocysteine lyase (BRENDA: 19 organisms, 40 substrates, 34 inhibitors, 18 Km, 8 kcat entries)
Substrate kinetics (BRENDA)
3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| L-SELENOCYSTEINE | 0.2–9.9 | 15 |
| L-CYSTEINE SULFINATE | 8.6–30 | 2 |
| BETA-CHLORO-L-ALANINE | 3.1 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- L-selenocysteine + AH2 = hydrogenselenide + L-alanine + A + H(+) (RHEA:11632)
UniProt features (46 total): helix 16, strand 12, turn 6, modified residue 3, sequence variant 3, sequence conflict 2, chain 1, region of interest 1, active site 1, splice variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3GZD | X-RAY DIFFRACTION | 1.8 |
| 3GZC | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96I15-F1 | 91.14 | 0.85 |
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): 388 (s-selanylcysteine intermediate)
Post-translational modifications (3): 1, 129, 259
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-2408508 | Metabolism of ingested SeMet, Sec, MeSec into H2Se |
| R-HSA-1430728 | Metabolism |
| R-HSA-2408522 | Selenoamino acid metabolism |
| R-HSA-71291 | Metabolism of amino acids and derivatives |
MSigDB gene sets: 130 (showing top):
GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, GOBP_AMINO_ACID_CATABOLIC_PROCESS, DANG_BOUND_BY_MYC, HAMAI_APOPTOSIS_VIA_TRAIL_DN, SENESE_HDAC3_TARGETS_DN, NUYTTEN_EZH2_TARGETS_DN, BENPORATH_MYC_MAX_TARGETS, GOMF_AMINO_ACID_BINDING, GOMF_PROTEIN_DIMERIZATION_ACTIVITY
GO Biological Process (2): amino acid metabolic process (GO:0006520), L-selenocysteine catabolic process (GO:0016261)
GO Molecular Function (7): selenocysteine lyase activity (GO:0009000), amino acid binding (GO:0016597), transferase activity (GO:0016740), protein homodimerization activity (GO:0042803), vitamin B6 binding (GO:0070279), protein binding (GO:0005515), lyase activity (GO:0016829)
GO Cellular Component (4): Golgi apparatus (GO:0005794), cytosol (GO:0005829), catalytic complex (GO:1902494), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Selenoamino acid metabolism | 1 |
| Metabolism of amino acids and derivatives | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| catalytic activity | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| primary metabolic process | 1 |
| modified amino acid catabolic process | 1 |
| L-amino acid catabolic process | 1 |
| proteinogenic amino acid catabolic process | 1 |
| carbon-sulfur lyase activity | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| vitamin binding | 1 |
| heterocyclic compound binding | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1633 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCLY | SEPHS2 | Q99611 | 752 |
| SCLY | SEPSECS | Q9HD40 | 716 |
| SCLY | PSTK | Q8IV42 | 711 |
| SCLY | SELENOK | Q9Y6D0 | 658 |
| SCLY | SELENOM | Q8WWX9 | 645 |
| SCLY | EEFSEC | P57772 | 644 |
| SCLY | SECISBP2 | Q96T21 | 643 |
| SCLY | SELENOS | Q9BQE4 | 643 |
| SCLY | SEPHS1 | P49903 | 634 |
| SCLY | SELENOF | O60613 | 633 |
| SCLY | SELENOP | P49908 | 626 |
| SCLY | CTH | P32929 | 589 |
| SCLY | SELENON | Q9NZV5 | 560 |
| SCLY | SELENOT | P62341 | 519 |
| SCLY | SELENOV | P59797 | 506 |
| SCLY | TRNAU1AP | Q9NX07 | 506 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK2 | CCNE2 | psi-mi:“MI:0914”(association) | 0.940 |
| SCLY | LNX2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| LNX2 | SCLY | psi-mi:“MI:0915”(physical association) | 0.670 |
| EIF1AD | NAXD | psi-mi:“MI:0914”(association) | 0.620 |
| APBA3 | CLSTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| TERF2IP | SCLY | psi-mi:“MI:0915”(physical association) | 0.510 |
| CREB3 | SCLY | psi-mi:“MI:0915”(physical association) | 0.370 |
| Ncaph | ATP5MF-PTCD1 | psi-mi:“MI:0914”(association) | 0.350 |
| TFG | NCOA4 | psi-mi:“MI:0914”(association) | 0.350 |
| Atp7a | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| VPS18 | DNAJB5 | psi-mi:“MI:0914”(association) | 0.350 |
| Mcm3 | ELL2 | psi-mi:“MI:0914”(association) | 0.350 |
| EXOSC5 | PAPD5 | psi-mi:“MI:0914”(association) | 0.350 |
| RANBP1 | RGPD3 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MTPN | PLCG1 | psi-mi:“MI:0914”(association) | 0.350 |
| SCLY | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.000 |
| SCLY | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (48): CCBL1 (Co-fractionation), HYI (Co-fractionation), IDE (Co-fractionation), NUTF2 (Co-fractionation), SCLY (Co-fractionation), SCLY (Co-fractionation), SCLY (Co-fractionation), SCLY (Co-fractionation), SCLY (Co-fractionation), SCLY (Co-fractionation), SCLY (Co-fractionation), WDR1 (Co-fractionation), SCLY (Two-hybrid), SCLY (Two-hybrid), SCLY (Affinity Capture-MS)
ESM2 similar proteins: A2VDS1, A4SP14, A4VNY2, A4XY43, A5GFY8, A6V0U8, A7H804, A7MBC0, A8GHY3, B0VD51, B0VNW2, B0YLW6, B2HZI5, B4UCP2, B7H3H0, B7I5Q3, B7UWH7, B8JC53, C1DE68, O31269, O43175, O49543, O60028, O74351, O75600, O88986, P0DN31, P25374, Q02RW8, Q0P5L8, Q10G56, Q1H361, Q2INI7, Q5BJY6, Q5R7M2, Q5U4Q9, Q60HD7, Q61753, Q66IQ6, Q68FT9
Diamond homologs: A1KUK1, A2VDS1, A4WDB1, A5I4Z9, A6TCF1, A7FWJ9, A7H804, A7MU48, A7ZPX4, A8A336, A8EYH9, A8F204, A8GHY3, A8GNU0, A8GSG4, A8GWB2, A9M029, A9MHJ4, A9N1X5, B0BXX6, B0YLW6, B1IWD1, B1LNI6, B1XB05, B2US50, B4T0S2, B4TDB6, B4TRX5, B4UCP2, B5BAW6, B5F1C0, B5FR85, B5R5A2, B5RD12, B5XNJ7, B5Z104, B6I5A2, B6JKF2, B7LDC2, B7M7N3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
90 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 78 |
| Likely benign | 6 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2724 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:238064352:TTCA:T | acceptor_loss | 1.0000 |
| 2:238064353:TCA:T | acceptor_loss | 1.0000 |
| 2:238064355:A:AG | acceptor_gain | 1.0000 |
| 2:238064355:A:T | acceptor_loss | 1.0000 |
| 2:238064355:AG:A | acceptor_gain | 1.0000 |
| 2:238064356:G:GT | acceptor_gain | 1.0000 |
| 2:238064356:GG:G | acceptor_gain | 1.0000 |
| 2:238064356:GGA:G | acceptor_gain | 1.0000 |
| 2:238064356:GGAA:G | acceptor_gain | 1.0000 |
| 2:238064356:GGAAA:G | acceptor_gain | 1.0000 |
| 2:238064465:AGCAG:A | donor_loss | 1.0000 |
| 2:238064466:GCAG:G | donor_gain | 1.0000 |
| 2:238064468:AGG:A | donor_loss | 1.0000 |
| 2:238064468:AGGT:A | donor_loss | 1.0000 |
| 2:238064469:GGTA:G | donor_loss | 1.0000 |
| 2:238064471:T:A | donor_loss | 1.0000 |
| 2:238068053:T:TA | acceptor_gain | 1.0000 |
| 2:238073848:G:GG | donor_gain | 1.0000 |
| 2:238081707:A:AG | acceptor_gain | 1.0000 |
| 2:238081707:AGC:A | acceptor_gain | 1.0000 |
| 2:238081708:G:GC | acceptor_gain | 1.0000 |
| 2:238081708:GCG:G | acceptor_gain | 1.0000 |
| 2:238082041:TCAGC:T | acceptor_loss | 1.0000 |
| 2:238082042:CAGCC:C | acceptor_loss | 1.0000 |
| 2:238082043:A:AG | acceptor_gain | 1.0000 |
| 2:238082043:A:C | acceptor_loss | 1.0000 |
| 2:238082044:G:A | acceptor_loss | 1.0000 |
| 2:238082044:G:GA | acceptor_gain | 1.0000 |
| 2:238082044:GC:G | acceptor_gain | 1.0000 |
| 2:238082044:GCC:G | acceptor_gain | 1.0000 |
AlphaMissense
2909 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:238098266:A:C | S417R | 0.996 |
| 2:238098268:C:A | S417R | 0.996 |
| 2:238098268:C:G | S417R | 0.996 |
| 2:238064370:G:C | D35H | 0.995 |
| 2:238064372:C:A | D35E | 0.994 |
| 2:238064372:C:G | D35E | 0.994 |
| 2:238069428:C:A | H145Q | 0.993 |
| 2:238069428:C:G | H145Q | 0.993 |
| 2:238082208:A:T | K259M | 0.993 |
| 2:238083348:G:C | R293T | 0.993 |
| 2:238091227:C:A | N298K | 0.992 |
| 2:238091227:C:G | N298K | 0.992 |
| 2:238098318:T:C | L434P | 0.992 |
| 2:238064371:A:T | D35V | 0.991 |
| 2:238064447:T:A | N60K | 0.991 |
| 2:238064447:T:G | N60K | 0.991 |
| 2:238083348:G:T | R293M | 0.991 |
| 2:238083349:G:C | R293S | 0.991 |
| 2:238083349:G:T | R293S | 0.991 |
| 2:238094494:C:A | N360K | 0.991 |
| 2:238094494:C:G | N360K | 0.991 |
| 2:238082129:G:C | D233H | 0.990 |
| 2:238082130:A:T | D233V | 0.990 |
| 2:238082209:G:C | K259N | 0.990 |
| 2:238082209:G:T | K259N | 0.990 |
| 2:238069433:C:T | S147F | 0.989 |
| 2:238093919:G:C | R327P | 0.989 |
| 2:238064371:A:C | D35A | 0.988 |
| 2:238069426:C:G | H145D | 0.988 |
| 2:238081826:G:T | G201V | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000009707 (2:238087096 A>G), RS1000142871 (2:238064269 C>T), RS1000267118 (2:238085737 A>G), RS1000296805 (2:238085534 C>T), RS1000297315 (2:238066479 G>A,T), RS1000371579 (2:238085444 T>G), RS1000405249 (2:238084125 G>C), RS1000485341 (2:238091716 A>G), RS1000550200 (2:238066231 C>A), RS1000598253 (2:238084080 C>T), RS1000616715 (2:238077891 G>C), RS1000650988 (2:238083739 G>A), RS1000688461 (2:238079601 T>G), RS1000796617 (2:238096757 C>G,T), RS1000859908 (2:238079931 A>G)
Disease associations
OMIM: gene MIM:611056 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066434 (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 |
|---|---|---|---|---|
| 6.05 | Kd | 890.7 | nM | CHEMBL5653589 |
| 6.05 | ED50 | 890.7 | 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 | 2149352: Binding affinity to human SCLY incubated for 45 mins by Kinobead based pull down assay | kd | 0.8907 | uM |
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 3 |
| sodium arsenite | decreases expression | 2 |
| Smoke | decreases expression, decreases reaction | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| afuresertib | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| Decitabine | decreases expression, decreases reaction | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Dibutyl Phthalate | affects cotreatment, increases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Tetradecanoylphorbol Acetate | affects cotreatment, increases expression | 1 |
| Vincristine | decreases expression | 1 |
| Antirheumatic Agents | decreases 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 |
|---|---|---|---|
| CHEMBL5652394 | Binding | Binding affinity to human SCLY 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.