CLTB
gene geneOn this page
Also known as Lcb
Summary
CLTB (clathrin light chain B, HGNC:2091) is a protein-coding gene on chromosome 5q35.2, encoding Clathrin light chain B (P09497). Clathrin is the major protein of the polyhedral coat of coated pits and vesicles.
Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 1212 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 14 total
- Druggable target: yes
- MANE Select transcript:
NM_007097
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2091 |
| Approved symbol | CLTB |
| Name | clathrin light chain B |
| Location | 5q35.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Lcb |
| Ensembl gene | ENSG00000175416 |
| Ensembl biotype | protein_coding |
| OMIM | 118970 |
| Entrez | 1212 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000310418, ENST00000345807, ENST00000502877, ENST00000507821, ENST00000508425, ENST00000509319, ENST00000510734, ENST00000942043
RefSeq mRNA: 4 — MANE Select: NM_007097
NM_001364126, NM_001364127, NM_001834, NM_007097
CCDS: CCDS4402, CCDS4403, CCDS87350
Canonical transcript exons
ENST00000310418 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001196736 | 176396479 | 176396532 |
| ENSE00001262536 | 176410257 | 176410303 |
| ENSE00001323510 | 176416177 | 176416539 |
| ENSE00003468928 | 176397930 | 176398047 |
| ENSE00003630550 | 176397607 | 176397718 |
| ENSE00003897628 | 176392501 | 176392945 |
Expression profiles
Bgee: expression breadth ubiquitous, 298 present calls, max score 99.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 62.3355 / max 1053.0501, expressed in 1828 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65008 | 48.3824 | 1825 |
| 65010 | 10.9892 | 1793 |
| 65007 | 1.3430 | 836 |
| 65006 | 0.8905 | 495 |
| 203805 | 0.5666 | 319 |
| 65003 | 0.1008 | 43 |
| 65002 | 0.0573 | 25 |
| 65001 | 0.0057 | 4 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.46 | gold quality |
| skin of leg | UBERON:0001511 | 99.38 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.28 | gold quality |
| esophagus mucosa | UBERON:0002469 | 99.22 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.16 | gold quality |
| gingiva | UBERON:0001828 | 99.08 | gold quality |
| apex of heart | UBERON:0002098 | 99.08 | gold quality |
| zone of skin | UBERON:0000014 | 98.83 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.81 | gold quality |
| esophagus | UBERON:0001043 | 98.80 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.78 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.68 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.66 | gold quality |
| muscle of leg | UBERON:0001383 | 98.53 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.44 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.43 | gold quality |
| lower esophagus | UBERON:0013473 | 98.38 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.38 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.36 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.29 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.26 | gold quality |
| cardiac atrium | UBERON:0002081 | 98.21 | gold quality |
| upper arm skin | UBERON:0004263 | 98.20 | gold quality |
| tibial nerve | UBERON:0001323 | 98.18 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.17 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.11 | gold quality |
| ileal mucosa | UBERON:0000331 | 98.10 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.10 | gold quality |
| transverse colon | UBERON:0001157 | 98.09 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.09 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 278.61 |
| E-MTAB-7008 | yes | 274.82 |
| E-MTAB-3929 | yes | 155.92 |
| E-MTAB-7316 | yes | 44.71 |
| E-ANND-3 | yes | 21.09 |
| E-GEOD-137537 | yes | 15.75 |
| E-MTAB-8410 | yes | 14.29 |
| E-HCAD-13 | yes | 7.20 |
| E-MTAB-6678 | yes | 6.13 |
| E-GEOD-125970 | no | 16.92 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 6)
- Data suggest that clathrin heavy chains bound to light chains (LC) a and b contribute to pit formation, but the affinity of LCa-free HC in pits is reduced, and the Ca(2+)- and ATP-mediated control of clathrin function is lost. (PMID:16138905)
- This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia. (PMID:19034380)
- Supporting a physiological role for CLC in migration, the CLCb isoform of CLC is upregulated in migratory human trophoblast cells during uterine invasion. (PMID:24852344)
- Data indicate that clathrin-mediated endocytosis of proto-oncogene protein erbB-3 (ErbB3) is depending on epsin-1. (PMID:26975582)
- CLCb/Dyn1-dependent adaptive clathrin-mediated endocytosis selectively altered EGF receptor trafficking. (PMID:28171750)
- Role of Clathrin Light Chains in Regulating Invadopodia Formation. (PMID:33672612)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cltb | ENSDARG00000052368 |
| mus_musculus | Cltb | ENSMUSG00000047547 |
| rattus_norvegicus | Cltb | ENSRNOG00000017506 |
| drosophila_melanogaster | Clc | FBGN0024814 |
| caenorhabditis_elegans | WBGENE00020246 |
Paralogs (1): CLTA (ENSG00000122705)
Protein
Protein identifiers
Clathrin light chain B — P09497 (reviewed: P09497)
All UniProt accessions (4): B4DTF9, D6RJD1, P09497, H0Y9Q6
UniProt curated annotations — full annotation on UniProt →
Function. Clathrin is the major protein of the polyhedral coat of coated pits and vesicles.
Subunit / interactions. Clathrin coats are formed from molecules containing 3 heavy chains and 3 light chains. Interacts (via N-terminus) with HIP1. Interacts with HIP1R.
Subcellular location. Cytoplasmic vesicle membrane. Membrane. Coated pit.
Similarity. Belongs to the clathrin light chain family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P09497-1 | Brain | yes |
| P09497-2 | Non-brain |
RefSeq proteins (4): NP_001351055, NP_001351056, NP_001825, NP_009028* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000996 | Clathrin_L-chain | Family |
Pfam: PF01086
UniProt features (13 total): modified residue 5, region of interest 2, compositionally biased region 2, chain 1, disulfide bond 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P09497-F1 | 74.35 | 0.28 |
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 (5): 11, 13, 187, 204, 217
Disulfide bonds (1): 199–209
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-190873 | Gap junction degradation |
| R-HSA-196025 | Formation of annular gap junctions |
| R-HSA-3928665 | EPH-ephrin mediated repulsion of cells |
| R-HSA-432720 | Lysosome Vesicle Biogenesis |
| R-HSA-5099900 | WNT5A-dependent internalization of FZD4 |
| R-HSA-5140745 | WNT5A-dependent internalization of FZD2, FZD5 and ROR2 |
| R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| R-HSA-8856828 | Clathrin-mediated endocytosis |
MSigDB gene sets: 243 (showing top):
MODY_HIPPOCAMPUS_POSTNATAL, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GGTGTGT_MIR329, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, JAEGER_METASTASIS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, KEGG_LYSOSOME, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_SYNAPTIC_VESICLE_RECYCLING, BROWNE_HCMV_INFECTION_24HR_UP, GOCC_TRANS_GOLGI_NETWORK, GOCC_COATED_VESICLE, KEGG_HUNTINGTONS_DISEASE
GO Biological Process (4): intracellular protein transport (GO:0006886), synaptic vesicle endocytosis (GO:0048488), clathrin-dependent endocytosis (GO:0072583), vesicle-mediated transport (GO:0016192)
GO Molecular Function (4): structural molecule activity (GO:0005198), clathrin heavy chain binding (GO:0032050), peptide binding (GO:0042277), protein binding (GO:0005515)
GO Cellular Component (15): trans-Golgi network (GO:0005802), cytosol (GO:0005829), plasma membrane (GO:0005886), clathrin coat (GO:0030118), clathrin vesicle coat (GO:0030125), clathrin coat of trans-Golgi network vesicle (GO:0030130), clathrin coat of coated pit (GO:0030132), synaptic vesicle membrane (GO:0030672), clathrin-coated endocytic vesicle (GO:0045334), ciliary membrane (GO:0060170), presynaptic endocytic zone membrane (GO:0098835), clathrin-coated pit (GO:0005905), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| PCP/CE pathway | 2 |
| Gap junction trafficking | 1 |
| Gap junction degradation | 1 |
| EPH-Ephrin signaling | 1 |
| trans-Golgi Network Vesicle Budding | 1 |
| Clathrin-mediated endocytosis | 1 |
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| membrane | 2 |
| clathrin coat | 2 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| synaptic vesicle recycling | 1 |
| presynaptic endocytosis | 1 |
| receptor-mediated endocytosis | 1 |
| transport | 1 |
| cellular process | 1 |
| molecular_function | 1 |
| clathrin binding | 1 |
| Golgi apparatus subcompartment | 1 |
| cell periphery | 1 |
| membrane coat | 1 |
| vesicle coat | 1 |
| clathrin-coated vesicle membrane | 1 |
| Golgi apparatus | 1 |
| trans-Golgi network transport vesicle membrane | 1 |
| clathrin vesicle coat | 1 |
| clathrin-coated pit | 1 |
| plasma membrane protein complex | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| clathrin-coated vesicle | 1 |
| endocytic vesicle | 1 |
| cilium | 1 |
| cell projection membrane | 1 |
| bounding membrane of organelle | 1 |
| presynaptic membrane | 1 |
| synaptic membrane | 1 |
| presynaptic endocytic zone | 1 |
| endomembrane system | 1 |
| vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
1248 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CLTB | CLTC | Q00610 | 974 |
| CLTB | CLTCL1 | P53675 | 968 |
| CLTB | EPN2 | O95208 | 806 |
| CLTB | HIP1R | O75146 | 800 |
| CLTB | AP2A1 | O95782 | 793 |
| CLTB | EPN3 | Q9H201 | 790 |
| CLTB | CLINT1 | Q14677 | 674 |
| CLTB | DNAJC6 | O75061 | 613 |
| CLTB | CLTA | P09496 | 609 |
| CLTB | AMPH | P49418 | 602 |
| CLTB | BIN1 | O00499 | 601 |
| CLTB | NECAP1 | Q8NC96 | 585 |
| CLTB | AP1B1 | P78436 | 555 |
| CLTB | EPS15 | P42566 | 537 |
| CLTB | AP2S1 | P53680 | 495 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CLTB | PIK3C2A | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | CNOT1 | psi-mi:“MI:0914”(association) | 0.480 |
| ADRA1A | CLTB | psi-mi:“MI:0915”(physical association) | 0.460 |
| ADRA1A | CLTB | psi-mi:“MI:0403”(colocalization) | 0.460 |
| CLTB | HTR4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CLTB | WNK1 | psi-mi:“MI:0914”(association) | 0.350 |
| OCRL | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| OCRL | ERC2 | psi-mi:“MI:0914”(association) | 0.350 |
| OCRL | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| ARRB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| HSPA8 | PPP6C | psi-mi:“MI:0914”(association) | 0.350 |
| DLD | NFKBIE | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| ALYREF | psi-mi:“MI:0914”(association) | 0.350 | |
| ZDHHC5 | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| PTPN23 | CLTA | psi-mi:“MI:0914”(association) | 0.350 |
| ROCK2 | CLTB | psi-mi:“MI:0914”(association) | 0.350 |
| ULK1 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS6KA5 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| STK16 | CLTB | psi-mi:“MI:0914”(association) | 0.350 |
| SIK1 | CLTB | psi-mi:“MI:0914”(association) | 0.350 |
| MAP3K9 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.350 |
| STK38 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| MAP3K21 | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.350 |
| OBSCN | HMGN1 | psi-mi:“MI:0914”(association) | 0.350 |
| TP53RK | CLTB | psi-mi:“MI:0914”(association) | 0.350 |
| WNK3 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 |
| RAF1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (271): CLTB (Affinity Capture-MS), CLTB (Co-fractionation), CLTB (Co-fractionation), CLTB (Co-fractionation), CLTB (Co-fractionation), CLTCL1 (Co-fractionation), HSPE1 (Co-fractionation), PDAP1 (Co-fractionation), AP2A1 (Affinity Capture-MS), AP2A2 (Affinity Capture-MS), AP2B1 (Affinity Capture-MS), AP2M1 (Affinity Capture-MS), AP2S1 (Affinity Capture-MS), CLTA (Affinity Capture-MS), CLTB (Affinity Capture-MS)
ESM2 similar proteins: A2VDK6, B5X3I1, O08585, O43290, O88271, P04973, P04975, P08081, P08082, P09496, P09497, P09741, P13805, P41236, P50751, P50753, Q02614, Q0VFP5, Q2QY04, Q3U155, Q40554, Q5BK07, Q5EA95, Q5I0B5, Q5PQS7, Q5RGJ6, Q5XIW8, Q5ZIH9, Q5ZK95, Q6INR1, Q6IRU5, Q6NUB2, Q6NXS1, Q6PII3, Q75QI0, Q75UQ2, Q7SXU0, Q8BH43, Q8LDQ4, Q8R1N0
Diamond homologs: O08585, P04973, P04975, P08081, P08082, P09496, P09497, Q6IRU5, Q9VWA1, Q8MN58
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GRK2 | unknown | CLTB | phosphorylation |
| CLTB | “form complex” | “AP-2/clathrin vescicle” | binding |
| CLTB | “form complex” | “AP-3/clathrin vescicle” | binding |
| CLTB | “form complex” | “AP-1/clathrin vescicle” | binding |
| CSNK2A1 | unknown | CLTB | phosphorylation |
| CSNK2A2 | unknown | CLTB | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 55 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 |
|---|---|---|---|
| Golgi Associated Vesicle Biogenesis | 5 | 24.4× | 3e-04 |
| Clathrin-mediated endocytosis | 7 | 14.6× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein autophosphorylation | 6 | 17.8× | 3e-04 |
| protein phosphorylation | 12 | 16.6× | 3e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
14 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
800 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:176396477:A:AC | donor_gain | 1.0000 |
| 5:176396478:C:CC | donor_gain | 1.0000 |
| 5:176396478:CA:C | donor_gain | 1.0000 |
| 5:176396532:CC:C | acceptor_loss | 1.0000 |
| 5:176397594:ACAGC:A | donor_gain | 1.0000 |
| 5:176397595:CAGCC:C | donor_gain | 1.0000 |
| 5:176397603:TCACC:T | donor_loss | 1.0000 |
| 5:176397605:A:AC | donor_gain | 1.0000 |
| 5:176397606:C:CC | donor_gain | 1.0000 |
| 5:176397606:CCGG:C | donor_gain | 1.0000 |
| 5:176397714:AGCAT:A | acceptor_gain | 1.0000 |
| 5:176397715:GCAT:G | acceptor_gain | 1.0000 |
| 5:176397716:CAT:C | acceptor_gain | 1.0000 |
| 5:176397716:CATC:C | acceptor_gain | 1.0000 |
| 5:176397717:AT:A | acceptor_gain | 1.0000 |
| 5:176397719:C:CC | acceptor_gain | 1.0000 |
| 5:176397719:CTAGG:C | acceptor_loss | 1.0000 |
| 5:176397728:C:CT | acceptor_gain | 1.0000 |
| 5:176397728:C:T | acceptor_gain | 1.0000 |
| 5:176397924:CCTCA:C | donor_loss | 1.0000 |
| 5:176397925:CTCAC:C | donor_loss | 1.0000 |
| 5:176397926:TCACC:T | donor_loss | 1.0000 |
| 5:176397927:CACC:C | donor_loss | 1.0000 |
| 5:176397928:A:AC | donor_gain | 1.0000 |
| 5:176397928:AC:A | donor_gain | 1.0000 |
| 5:176397929:C:CC | donor_gain | 1.0000 |
| 5:176397929:CC:C | donor_gain | 1.0000 |
| 5:176397929:CCCAG:C | donor_gain | 1.0000 |
| 5:176397933:G:C | donor_gain | 1.0000 |
| 5:176397948:T:TA | donor_gain | 1.0000 |
AlphaMissense
1515 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:176392888:C:A | W192C | 1.000 |
| 5:176392888:C:G | W192C | 1.000 |
| 5:176392890:A:G | W192R | 1.000 |
| 5:176392890:A:T | W192R | 1.000 |
| 5:176397656:A:G | W139R | 1.000 |
| 5:176397656:A:T | W139R | 1.000 |
| 5:176397664:A:G | L136P | 1.000 |
| 5:176397677:C:G | A132P | 1.000 |
| 5:176397962:C:G | R107P | 1.000 |
| 5:176397964:C:A | W106C | 1.000 |
| 5:176397964:C:G | W106C | 1.000 |
| 5:176397966:A:G | W106R | 1.000 |
| 5:176397966:A:T | W106R | 1.000 |
| 5:176416283:G:C | F27L | 1.000 |
| 5:176416283:G:T | F27L | 1.000 |
| 5:176416284:A:C | F27C | 1.000 |
| 5:176416285:A:G | F27L | 1.000 |
| 5:176392799:A:G | L222P | 0.999 |
| 5:176392808:A:G | L219P | 0.999 |
| 5:176392817:C:G | R216P | 0.999 |
| 5:176392818:G:T | R216S | 0.999 |
| 5:176392824:G:T | R214S | 0.999 |
| 5:176392833:C:G | D211H | 0.999 |
| 5:176392889:C:G | W192S | 0.999 |
| 5:176397607:C:G | R155P | 0.999 |
| 5:176397654:C:A | W139C | 0.999 |
| 5:176397654:C:G | W139C | 0.999 |
| 5:176397655:C:G | W139S | 0.999 |
| 5:176397676:G:T | A132D | 0.999 |
| 5:176397941:A:G | L114P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000027940 (5:176400004 C>G,T), RS1000162708 (5:176405779 C>T), RS1000214507 (5:176405976 C>G,T), RS1000563581 (5:176417819 T>C), RS1000576641 (5:176418144 G>A), RS1000807544 (5:176395295 A>C), RS1000856645 (5:176395512 C>T), RS1001048582 (5:176401635 G>A), RS1001296226 (5:176412897 G>A,C), RS1001479238 (5:176393416 A>G), RS1001529850 (5:176393760 C>T), RS1001590569 (5:176406429 G>A), RS1001690793 (5:176401042 C>T), RS1001719202 (5:176398779 G>A), RS1001887320 (5:176404426 C>T)
Disease associations
OMIM: gene MIM:118970 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_725 | Obesity-related traits | 8.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5291549 (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 |
|---|---|---|---|---|
| 5.97 | Kd | 1072 | nM | CHEMBL5653589 |
| 5.97 | ED50 | 1072 | 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 | 2148091: Binding affinity to human CLTB incubated for 45 mins by Kinobead based pull down assay | kd | 1.0718 | uM |
CTD chemical–gene interactions
57 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| bisphenol A | decreases expression, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases expression | 3 |
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 2 |
| nickel sulfate | increases expression, decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Cocaine | decreases expression | 2 |
| Doxorubicin | affects expression, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| tamibarotene | increases expression | 1 |
| azoxystrobin | decreases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| bromovanin | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | 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 |
|---|---|---|---|
| CHEMBL5651133 | Binding | Binding affinity to human CLTB 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 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0AE | Ubigene HeLa CLTB KO | Cancer cell line | Female |
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.