RPL36AL
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Summary
RPL36AL (ribosomal protein L36a like, HGNC:10346) is a protein-coding gene on chromosome 14q21.3, encoding Ribosomal protein eL42-like (Q969Q0). It is a common-essential gene (DepMap: required in 92.7% of cancer cell lines).
Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
Source: NCBI Gene 6166 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 17 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 92.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001001
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10346 |
| Approved symbol | RPL36AL |
| Name | ribosomal protein L36a like |
| Location | 14q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000165502 |
| Ensembl biotype | protein_coding |
| OMIM | 180469 |
| Entrez | 6166 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 13 protein_coding
ENST00000298289, ENST00000880632, ENST00000880633, ENST00000880634, ENST00000880635, ENST00000880636, ENST00000936359, ENST00000936360, ENST00000936361, ENST00000936362, ENST00000936363, ENST00000936364, ENST00000944530
RefSeq mRNA: 1 — MANE Select: NM_001001
NM_001001
CCDS: CCDS9689
Canonical transcript exons
ENST00000298289 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001093649 | 49620562 | 49620626 |
| ENSE00001093650 | 49618530 | 49619140 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 99.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 182.5453 / max 1821.8159, expressed in 1821 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 143082 | 282.3437 | 1827 |
| 196950 | 182.5453 | 1821 |
| 143081 | 0.7674 | 431 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| germinal epithelium of ovary | UBERON:0001304 | 99.75 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 99.70 | gold quality |
| nasopharynx | UBERON:0001728 | 99.69 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.61 | gold quality |
| amniotic fluid | UBERON:0000173 | 99.55 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.53 | gold quality |
| body of pancreas | UBERON:0001150 | 99.53 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 99.50 | gold quality |
| left ovary | UBERON:0002119 | 99.47 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.44 | gold quality |
| caput epididymis | UBERON:0004358 | 99.44 | gold quality |
| ovary | UBERON:0000992 | 99.42 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.42 | gold quality |
| synovial joint | UBERON:0002217 | 99.41 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.40 | gold quality |
| oral cavity | UBERON:0000167 | 99.39 | gold quality |
| right ovary | UBERON:0002118 | 99.39 | gold quality |
| type B pancreatic cell | CL:0000169 | 99.38 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.38 | gold quality |
| endocervix | UBERON:0000458 | 99.37 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.37 | gold quality |
| urethra | UBERON:0000057 | 99.36 | gold quality |
| penis | UBERON:0000989 | 99.36 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.36 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.36 | gold quality |
| body of stomach | UBERON:0001161 | 99.35 | gold quality |
| pancreas | UBERON:0001264 | 99.35 | gold quality |
| superficial temporal artery | UBERON:0001614 | 99.35 | gold quality |
| tendon | UBERON:0000043 | 99.34 | gold quality |
| right lung | UBERON:0002167 | 99.32 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 126.26 |
| E-CURD-88 | yes | 27.94 |
| E-GEOD-135922 | yes | 24.63 |
| E-MTAB-10042 | yes | 9.28 |
| E-MTAB-7316 | yes | 6.66 |
| E-MTAB-9388 | no | 905.92 |
| E-HCAD-1 | no | 40.81 |
| E-CURD-122 | no | 10.02 |
| E-MTAB-8410 | no | 9.96 |
| E-GEOD-130148 | no | 7.01 |
| E-HCAD-10 | no | 6.53 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 92.7% of screened cell lines, common-essential.
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rpl36a | ENSDARG00000058105 |
| mus_musculus | Gm6525 | ENSMUSG00000104043 |
| rattus_norvegicus | ENSRNOG00000075816 |
Paralogs (1): RPL36A (ENSG00000241343)
Protein
Protein identifiers
Ribosomal protein eL42-like — Q969Q0 (reviewed: Q969Q0)
Alternative names: 60S ribosomal protein L36a-like, Large ribosomal subunit protein eL42-like
All UniProt accessions (1): Q969Q0
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm.
Tissue specificity. Ubiquitously expressed.
Miscellaneous. This gene has no introns in its coding regions, and therefore, was most likely produced by retrotransposition of the original X-linked gene during evolution.
Similarity. Belongs to the eukaryotic ribosomal protein eL42 family.
RefSeq proteins (1): NP_000992* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000552 | Ribosomal_eL44 | Family |
| IPR011332 | Ribosomal_zn-bd | Homologous_superfamily |
| IPR053708 | Ribosomal_LSU_eL42 | Homologous_superfamily |
Pfam: PF00935
UniProt features (4 total): chain 1, region of interest 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969Q0-F1 | 94.96 | 0.92 |
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 (1): 53
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-156827 | L13a-mediated translational silencing of Ceruloplasmin expression |
| R-HSA-156902 | Peptide chain elongation |
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
| R-HSA-192823 | Viral mRNA Translation |
| R-HSA-2408557 | Selenocysteine synthesis |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72689 | Formation of a pool of free 40S subunits |
| R-HSA-72706 | GTP hydrolysis and joining of the 60S ribosomal subunit |
| R-HSA-72764 | Eukaryotic Translation Termination |
| R-HSA-9010553 | Regulation of expression of SLITs and ROBOs |
| R-HSA-9633012 | Response of EIF2AK4 (GCN2) to amino acid deficiency |
| R-HSA-975956 | Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) |
| R-HSA-975957 | Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
| R-HSA-9954709 | Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide |
| R-HSA-9954714 | PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA |
| R-HSA-9954716 | ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA |
MSigDB gene sets: 298 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GOBP_CYTOPLASMIC_TRANSLATION, RNGTGGGC_UNKNOWN, MORF_RAB5A, MODULE_151, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GCM_NPM1, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_RAD21, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, HSIAO_HOUSEKEEPING_GENES, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, MORF_PSMC2, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION
GO Biological Process (2): cytoplasmic translation (GO:0002181), translation (GO:0006412)
GO Molecular Function (2): structural constituent of ribosome (GO:0003735), protein binding (GO:0005515)
GO Cellular Component (8): nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), plasma membrane (GO:0005886), cytosolic large ribosomal subunit (GO:0022625), cytoplasm (GO:0005737), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Ribosome-associated quality control | 3 |
| Translation | 2 |
| Cap-dependent Translation Initiation | 2 |
| Nonsense-Mediated Decay (NMD) | 2 |
| Eukaryotic Translation Initiation | 1 |
| Eukaryotic Translation Elongation | 1 |
| Influenza Viral RNA Transcription and Replication | 1 |
| Selenoamino acid metabolism | 1 |
| rRNA processing in the nucleus and cytosol | 1 |
| Signaling by ROBO receptors | 1 |
| Cellular response to starvation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| translation | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| structural molecule activity | 1 |
| ribosome | 1 |
| binding | 1 |
| endomembrane system | 1 |
| membrane | 1 |
| cell periphery | 1 |
| large ribosomal subunit | 1 |
| cytosolic ribosome | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2645 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPL36AL | RPL19 | P14118 | 914 |
| RPL36AL | RPL7A | P11518 | 904 |
| RPL36AL | RPS11 | P04643 | 896 |
| RPL36AL | RPS17 | P08708 | 880 |
| RPL36AL | RPL35A | P18077 | 874 |
| RPL36AL | RPL30 | P04645 | 852 |
| RPL36AL | RPL39 | P02404 | 778 |
| RPL36AL | RPS14 | P06366 | 777 |
| RPL36AL | RPS6 | P08227 | 762 |
| RPL36AL | RPL5 | P46777 | 727 |
| RPL36AL | RPL12 | P30050 | 712 |
| RPL36AL | RPS2 | P15880 | 710 |
| RPL36AL | RPS18 | P25232 | 702 |
| RPL36AL | RPL39L | Q96EH5 | 675 |
| RPL36AL | RPL15 | P39030 | 647 |
IntAct
78 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MRPS30 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.640 |
| RPL10A | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| RPL14 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| DHX8 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.640 |
| RPS7 | RPL5 | psi-mi:“MI:0914”(association) | 0.640 |
| ESR1 | TRIM24 | psi-mi:“MI:0914”(association) | 0.640 |
| RPL36AL | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MDK | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| RSBN1 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL10 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| BHLHA15 | RPLP0 | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L1 | RPL17 | psi-mi:“MI:0914”(association) | 0.530 |
| DRICH1 | CSNK1E | psi-mi:“MI:0914”(association) | 0.530 |
| ESR1 | psi-mi:“MI:0914”(association) | 0.460 | |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| RPL36AL | MRPS5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSPB2 | RPL36AL | psi-mi:“MI:0915”(physical association) | 0.370 |
| RPL36AL | C7orf25 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RPL36AL | GSK3B | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (414): KRTAP10-7 (Two-hybrid), RPL36AL (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), RPL35A (Co-fractionation), RPL36AL (Co-fractionation), RPL36AL (Co-fractionation), RPL36AL (Co-fractionation)
ESM2 similar proteins: A0A1D8PEV4, A8PCG3, A9L948, D0VWQ4, G1T040, O23290, O27365, O28936, O59870, O97231, P0CQ50, P0CQ51, P0CX27, P0CX28, P17843, P27074, P27075, P27076, P31027, P31028, P31866, P36533, P48166, P49213, P52809, P54027, P61485, P61486, P61487, P83881, P83882, P83883, P83884, P90702, Q00477, Q22X38, Q3ISI8, Q3SZ59, Q4PNY0, Q55CW5
Diamond homologs: A0A1D8PEV4, A8PCG3, A9L948, B8D537, D0VWQ4, F2L1X6, G1T040, O23290, O27365, O59870, O97231, P0CQ50, P0CQ51, P0CX27, P0CX28, P17843, P27074, P27075, P27076, P31027, P31028, P31866, P48166, P49213, P52809, P61485, P61486, P61487, P83881, P83882, P83883, P83884, P90702, Q00477, Q22X38, Q3SZ59, Q4PNY0, Q55CW5, Q5R9D2, Q6BLK0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPL36AL | “form complex” | “60S cytosolic large ribosomal subunit” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 111 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 |
|---|---|---|---|
| SRP-dependent cotranslational protein targeting to membrane | 17 | 21.3× | 7e-16 |
| Peptide chain elongation | 13 | 20.6× | 4e-12 |
| Viral mRNA Translation | 13 | 20.6× | 4e-12 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 13 | 20.4× | 4e-12 |
| Selenocysteine synthesis | 13 | 19.5× | 4e-12 |
| Eukaryotic Translation Termination | 13 | 19.5× | 4e-12 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 13 | 19.1× | 5e-12 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 13 | 19.1× | 5e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 13 | 24.1× | 2e-12 |
| ribosomal large subunit biogenesis | 5 | 22.2× | 4e-04 |
| translation | 16 | 16.4× | 1e-12 |
| ribosomal small subunit biogenesis | 7 | 15.9× | 5e-05 |
| rRNA processing | 9 | 12.8× | 9e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2425021 | NC_000023.10:g.(?99551275)(101097764_?)del | Pathogenic |
SpliceAI
899 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:101391563:GG:G | donor_gain | 1.0000 |
| X:101391564:GG:G | donor_gain | 1.0000 |
| X:101391749:TCCCA:T | acceptor_loss | 1.0000 |
| X:101391750:CCCA:C | acceptor_loss | 1.0000 |
| X:101391751:CCA:C | acceptor_loss | 1.0000 |
| X:101391752:CA:C | acceptor_loss | 1.0000 |
| X:101391754:G:A | acceptor_loss | 1.0000 |
| X:101391819:AAAGG:A | donor_loss | 1.0000 |
| X:101391821:AGG:A | donor_loss | 1.0000 |
| X:101391822:GGT:G | donor_loss | 1.0000 |
| X:101391823:G:GA | donor_loss | 1.0000 |
| X:101391824:T:A | donor_loss | 1.0000 |
| X:101391824:T:G | donor_loss | 1.0000 |
| X:101395441:GAGA:G | donor_gain | 1.0000 |
| X:101395444:A:G | donor_gain | 1.0000 |
| 14:49619141:C:CC | acceptor_gain | 0.9900 |
| X:101391042:GCATG:G | donor_gain | 0.9900 |
| X:101391192:G:T | donor_gain | 0.9900 |
| X:101391211:G:GT | donor_gain | 0.9900 |
| X:101391453:TACTA:T | acceptor_loss | 0.9900 |
| X:101391455:CTAGG:C | acceptor_loss | 0.9900 |
| X:101391456:TA:T | acceptor_loss | 0.9900 |
| X:101391457:A:AG | acceptor_gain | 0.9900 |
| X:101391457:AGGTT:A | acceptor_loss | 0.9900 |
| X:101391458:G:GG | acceptor_gain | 0.9900 |
| X:101391458:GGTT:G | acceptor_gain | 0.9900 |
| X:101391458:GGTTA:G | acceptor_gain | 0.9900 |
| X:101391542:C:T | donor_gain | 0.9900 |
| X:101391565:G:GC | donor_loss | 0.9900 |
| X:101391565:G:GG | donor_gain | 0.9900 |
AlphaMissense
692 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:49618787:G:C | F106L | 0.998 |
| 14:49618787:G:T | F106L | 0.998 |
| 14:49618789:A:G | F106L | 0.998 |
| 14:49618841:G:C | C88W | 0.998 |
| 14:49618844:T:A | R87S | 0.998 |
| 14:49618844:T:G | R87S | 0.998 |
| 14:49618845:C:G | R87T | 0.998 |
| 14:49618922:C:A | K61N | 0.998 |
| 14:49618922:C:G | K61N | 0.998 |
| 14:49618956:C:T | G50E | 0.998 |
| 14:49618824:C:T | G94E | 0.997 |
| 14:49618842:C:T | C88Y | 0.997 |
| 14:49618845:C:A | R87I | 0.997 |
| 14:49618896:A:G | L70P | 0.997 |
| 14:49618926:G:T | A60D | 0.997 |
| 14:49618788:A:G | F106S | 0.996 |
| 14:49618832:A:C | F91L | 0.996 |
| 14:49618832:A:T | F91L | 0.996 |
| 14:49618833:A:G | F91S | 0.996 |
| 14:49618834:A:G | F91L | 0.996 |
| 14:49618838:C:A | K89N | 0.996 |
| 14:49618838:C:G | K89N | 0.996 |
| 14:49618891:A:G | C72R | 0.996 |
| 14:49618902:A:G | L68P | 0.996 |
| 14:49618902:A:T | L68Q | 0.996 |
| 14:49618913:C:A | K64N | 0.996 |
| 14:49618913:C:G | K64N | 0.996 |
| 14:49618917:G:A | T63I | 0.996 |
| 14:49618946:C:A | K53N | 0.996 |
| 14:49618946:C:G | K53N | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000194527 (14:49619782 T>C), RS1000458463 (14:49621556 C>T), RS1000796282 (14:49620645 G>A), RS1000864356 (14:49619362 G>A), RS1000981677 (14:49619604 T>G), RS1001322400 (14:49619685 C>G), RS1002967671 (14:49620548 C>A), RS1003201135 (14:49619697 T>C), RS1003340772 (14:49620385 G>A,C), RS1003647744 (14:49620606 T>C), RS1003705196 (14:49619467 G>C), RS1003833972 (14:49619163 A>G), RS1003910403 (14:49619438 C>A,T), RS1005048070 (14:49618961 A>G,T), RS1005716041 (14:49620833 G>A)
Disease associations
OMIM: gene MIM:180469 | 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: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects expression | 4 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| azoxystrobin | increases expression | 1 |
| CD 437 | decreases expression | 1 |
| chloropicrin | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| fenpyroximate | increases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| picoxystrobin | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Furaldehyde | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| Lipopolysaccharides | affects expression, affects response to substance | 1 |
| Smoke | decreases expression | 1 |
| Sodium Chloride | affects localization, increases expression, affects cotreatment, decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3G9 | Abcam HEK293T RPL36AL KO | Transformed 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.