RNF152
gene geneOn this page
Also known as FLJ39176
Summary
RNF152 (ring finger protein 152, HGNC:26811) is a protein-coding gene on chromosome 18q21.33, encoding E3 ubiquitin-protein ligase RNF152 (Q8N8N0). E3 ubiquitin-protein ligase that acts as a negative regulator of mTORC1 signaling by mediating ubiquitination of RagA/RRAGA and RHEB.
Enables small GTPase binding activity and ubiquitin protein ligase activity. Involved in several processes, including cellular response to amino acid starvation; negative regulation of TORC1 signaling; and protein ubiquitination. Located in lysosomal membrane.
Source: NCBI Gene 220441 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 43 total
- MANE Select transcript:
NM_173557
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26811 |
| Approved symbol | RNF152 |
| Name | ring finger protein 152 |
| Location | 18q21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ39176 |
| Ensembl gene | ENSG00000176641 |
| Ensembl biotype | protein_coding |
| OMIM | 616512 |
| Entrez | 220441 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 26 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000312828, ENST00000588064, ENST00000588396, ENST00000591306, ENST00000619552, ENST00000873265, ENST00000873266, ENST00000873267, ENST00000873268, ENST00000873269, ENST00000873270, ENST00000873271, ENST00000873272, ENST00000873273, ENST00000873274, ENST00000873275, ENST00000873276, ENST00000873277, ENST00000873278, ENST00000873279, ENST00000873280, ENST00000969137, ENST00000969138, ENST00000969139, ENST00000969140, ENST00000969141, ENST00000969142, ENST00000969143, ENST00000969144
RefSeq mRNA: 1 — MANE Select: NM_173557
NM_173557
CCDS: CCDS11978
Canonical transcript exons
ENST00000312828 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001231424 | 61808067 | 61816598 |
| ENSE00001332485 | 61892795 | 61893007 |
Expression profiles
Bgee: expression breadth ubiquitous, 163 present calls, max score 86.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8977 / max 192.2446, expressed in 1271 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 172233 | 4.1391 | 1022 |
| 172234 | 2.6599 | 956 |
| 172235 | 0.8007 | 398 |
| 172231 | 0.1536 | 83 |
| 172232 | 0.1444 | 62 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 86.86 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 86.44 | gold quality |
| popliteal artery | UBERON:0002250 | 86.04 | gold quality |
| tibial artery | UBERON:0007610 | 86.03 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.81 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.42 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.29 | gold quality |
| minor salivary gland | UBERON:0001830 | 83.95 | gold quality |
| metanephros cortex | UBERON:0010533 | 83.35 | gold quality |
| left coronary artery | UBERON:0001626 | 82.73 | gold quality |
| colonic epithelium | UBERON:0000397 | 82.70 | gold quality |
| skin of leg | UBERON:0001511 | 82.53 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.41 | gold quality |
| endocervix | UBERON:0000458 | 82.38 | gold quality |
| skin of abdomen | UBERON:0001416 | 82.09 | gold quality |
| cerebellum | UBERON:0002037 | 82.01 | gold quality |
| calcaneal tendon | UBERON:0003701 | 81.98 | gold quality |
| cortex of kidney | UBERON:0001225 | 81.85 | gold quality |
| aorta | UBERON:0000947 | 81.84 | gold quality |
| right coronary artery | UBERON:0001625 | 81.74 | gold quality |
| kidney | UBERON:0002113 | 81.46 | gold quality |
| coronary artery | UBERON:0001621 | 80.65 | gold quality |
| cortical plate | UBERON:0005343 | 80.46 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 80.09 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.43 | gold quality |
| right lung | UBERON:0002167 | 79.30 | gold quality |
| ectocervix | UBERON:0012249 | 79.27 | gold quality |
| mouth mucosa | UBERON:0003729 | 78.36 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 78.30 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 78.22 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 24.96 |
| E-ANND-3 | yes | 11.78 |
| E-MTAB-6678 | yes | 11.48 |
| E-CURD-114 | yes | 10.51 |
| E-HCAD-35 | yes | 6.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
53 targeting RNF152, 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-5003-5P | 99.61 | 69.13 | 1624 |
| HSA-MIR-18A-3P | 99.56 | 65.68 | 1092 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
Literature-anchored findings (GeneRIF, showing 4)
- RNF152 is a lysosome localized E3 ligase with pro-apoptotic activities (PMID:21203937)
- A mechanism for regulation of mTORC1 signaling by RNF152-mediated K63-linked polyubiquitination of RagA. (PMID:25936802)
- The Role of Tissue-Specific Ubiquitin Ligases, RNF183, RNF186, RNF182 and RNF152, in Disease and Biological Function. (PMID:32486221)
- RNF152 Suppresses Fatty Acid Oxidation and Metastasis of Lung Adenocarcinoma by Inhibiting IRAK1-Mediated AKR1B10 Expression. (PMID:37717980)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rnf152 | ENSDARG00000087782 |
| mus_musculus | Rnf152 | ENSMUSG00000047496 |
| rattus_norvegicus | Rnf152 | ENSRNOG00000014859 |
Paralogs (12): CD86 (ENSG00000114013), CD274 (ENSG00000120217), CD80 (ENSG00000121594), RFPL1 (ENSG00000128250), RFPL2 (ENSG00000128253), RFPL3 (ENSG00000128276), SPRYD4 (ENSG00000176422), RNF135 (ENSG00000181481), PDCD1LG2 (ENSG00000197646), RFPL4A (ENSG00000223638), RFPL4AL1 (ENSG00000229292), RFPL4B (ENSG00000251258)
Protein
Protein identifiers
E3 ubiquitin-protein ligase RNF152 — Q8N8N0 (reviewed: Q8N8N0)
Alternative names: RING finger protein 152, RING-type E3 ubiquitin transferase RNF152
All UniProt accessions (2): Q8N8N0, K7EMG3
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase that acts as a negative regulator of mTORC1 signaling by mediating ubiquitination of RagA/RRAGA and RHEB. Catalyzes ‘Lys-63’-linked polyubiquitination of RagA/RRAGA in response to amino acid starvation, thereby regulating mTORC1 signaling. Also mediates monoubiquitination of RHEB, promoting its association with the TSC-TBC complex and subsequent inhibition. Also mediates ‘Lys-48’-linked polyubiquitination of target proteins and their subsequent targeting to the proteasome for degradation. Induces apoptosis when overexpressed.
Subunit / interactions. Interacts with RRAGA (inactive GDP-bound form); stimulated by amino acid starvation. Interacts with SEC16A.
Subcellular location. Lysosome membrane.
Tissue specificity. Widely expressed.
Post-translational modifications. Ubiquitinated. Autoubiquitinated in vitro, leading to its degradation by the proteasome.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the RNF152 family.
RefSeq proteins (1): NP_775828* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR033609 | RING_RNF152 | Domain |
| IPR045744 | RNF152_C | Domain |
Pfam: PF14634, PF19325
UniProt features (5 total): chain 1, transmembrane region 1, zinc finger region 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8N0-F1 | 66.82 | 0.14 |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-8866654 | E3 ubiquitin ligases ubiquitinate target proteins |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-8852135 | Protein ubiquitination |
MSigDB gene sets: 115 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, TAATAAT_MIR126, MYOGENIN_Q6, GOCC_VACUOLAR_MEMBRANE, AAGCCAT_MIR135A_MIR135B, GOMF_GTPASE_BINDING, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, NKX61_01, BILD_HRAS_ONCOGENIC_SIGNATURE, CEBP_Q2, GGGCATT_MIR365, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, TGCTGAY_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_TOR_SIGNALING
GO Biological Process (18): protein monoubiquitination (GO:0006513), apoptotic process (GO:0006915), positive regulation of autophagy (GO:0010508), protein ubiquitination (GO:0016567), cellular response to amino acid starvation (GO:0034198), protein K63-linked ubiquitination (GO:0070534), protein K48-linked ubiquitination (GO:0070936), negative regulation of TORC1 signaling (GO:1904262), protein polyubiquitination (GO:0000209), cytoplasmic translation (GO:0002181), cellular response to starvation (GO:0009267), cellular response to nutrient levels (GO:0031669), TORC1 signaling (GO:0038202), negative regulation of translational initiation (GO:0045947), positive regulation of translational initiation (GO:0045948), protein localization to lysosome (GO:0061462), positive regulation of TORC1 signaling (GO:1904263), response to amino acid starvation (GO:1990928)
GO Molecular Function (7): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), small GTPase binding (GO:0031267), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (4): lysosome (GO:0005764), lysosomal membrane (GO:0005765), organelle membrane (GO:0031090), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Protein ubiquitination | 1 |
| Metabolism of proteins | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein ubiquitination | 2 |
| protein polyubiquitination | 2 |
| TORC1 signaling | 2 |
| regulation of TORC1 signaling | 2 |
| response to starvation | 2 |
| translational initiation | 2 |
| regulation of translational initiation | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| autophagy | 1 |
| positive regulation of catabolic process | 1 |
| regulation of autophagy | 1 |
| protein modification by small protein conjugation | 1 |
| cellular response to starvation | 1 |
| response to amino acid starvation | 1 |
| negative regulation of TOR signaling | 1 |
| translation | 1 |
| cellular response to nutrient levels | 1 |
| cellular response to stress | 1 |
| response to nutrient levels | 1 |
| cellular response to stimulus | 1 |
| TOR signaling | 1 |
| negative regulation of translation | 1 |
| positive regulation of translation | 1 |
| protein localization to vacuole | 1 |
| positive regulation of TOR signaling | 1 |
| ubiquitin-like protein transferase activity | 1 |
| transition metal ion binding | 1 |
| GTPase binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| lytic vacuole | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| membrane | 1 |
| membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
706 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF152 | RNF167 | Q9H6Y7 | 573 |
| RNF152 | KLHL22 | Q53GT1 | 572 |
| RNF152 | RRAGA | Q7L523 | 548 |
| RNF152 | A0A2R8Y4M4 | A0A2R8Y4M4 | 506 |
| RNF152 | CASTOR1 | Q8WTX7 | 464 |
| RNF152 | ZNRF1 | Q8ND25 | 456 |
| RNF152 | ZNF507 | Q8TCN5 | 455 |
| RNF152 | KICS2 | Q96MD2 | 453 |
| RNF152 | ITFG2 | Q969R8 | 452 |
| RNF152 | WDR24 | Q96S15 | 445 |
| RNF152 | KLHL25 | Q9H0H3 | 442 |
| RNF152 | SAMTOR | Q1RMZ1 | 440 |
| RNF152 | INTS5 | Q6P9B9 | 437 |
| RNF152 | BNIP1 | Q12981 | 435 |
| RNF152 | DNAJC11 | Q9NVH1 | 434 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIR2DL3 | RNF152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN12 | RNF152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EBP | RNF152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJA8 | RNF152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF152 | LITAF | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF152 | C9orf40 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RNF152 | UBE2E1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF152 | UBE2N | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF152 | UBE2W | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF152 | CROCC | psi-mi:“MI:0915”(physical association) | 0.370 |
| KIR2DL3 | RNF152 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF152 | EBP | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF152 | GJA8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF152 | TSPAN12 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (44): RRAGA (Biochemical Activity), RRAGA (Affinity Capture-Western), RRAGA (Reconstituted Complex), RNF152 (Affinity Capture-Western), UBE2N (Reconstituted Complex), SEC16A (Affinity Capture-Western), RNF152 (PCA), RNF152 (Affinity Capture-Western), RHEB (Biochemical Activity), RHEB (Affinity Capture-Western), RHEB (Reconstituted Complex), RNF152 (Two-hybrid), RNF152 (Two-hybrid), RNF152 (Two-hybrid), KIR2DL3 (Two-hybrid)
ESM2 similar proteins: A6NCL7, A6NCQ9, A6QP29, A6QQV9, B1AVH7, B5DFA1, D2H0G5, D2H6Z0, D2H788, D3ZBM4, D4A723, E1C2W7, O95153, Q0QWG9, Q3SWY0, Q3T0Y9, Q3U0L2, Q3UV31, Q3V3A7, Q5RF77, Q60943, Q6INB3, Q6PGG2, Q7TNF8, Q7Z465, Q80TI1, Q810L3, Q8BG47, Q8BRJ3, Q8BXP5, Q8C0R7, Q8C432, Q8CEF8, Q8HYZ0, Q8N0U2, Q8N6D2, Q8N8N0, Q8NC24, Q8QZS5, Q8TED9
Diamond homologs: A0A7I2V3R4, D2H6Z0, D4A723, E1C2W7, Q03601, Q13049, Q3SWY0, Q58EC8, Q68EV7, Q6GND7, Q6NRD3, Q8BG47, Q8CH72, Q8N8N0, Q8QZS5, Q96D59, Q9D241, A4IF63, A5D7F8, A5D8S5, D2GXS7, D3ZQG6, E1BD59, F4I443, F6ZQ54, F7H9X2, O60858, O70277, O75382, P14373, Q14258, Q1XHU0, Q28E95, Q32L60, Q38HM4, Q495X7, Q496Y0, Q498M5, Q503I2, Q5M7V1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF152 | ubiquitination |
| RNF152 | “down-regulates activity” | RRAGA | polyubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1562 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:61893507:T:TA | donor_gain | 1.0000 |
| 18:61893508:C:A | donor_gain | 1.0000 |
| 18:61816594:CATTT:C | acceptor_gain | 0.9900 |
| 18:61816596:TTT:T | acceptor_gain | 0.9900 |
| 18:61816599:C:CC | acceptor_gain | 0.9900 |
| 18:61825227:C:CT | acceptor_gain | 0.9900 |
| 18:61839054:C:CT | acceptor_gain | 0.9900 |
| 18:61872661:C:A | donor_gain | 0.9900 |
| 18:61814833:T:A | donor_gain | 0.9800 |
| 18:61816595:ATTTC:A | acceptor_loss | 0.9800 |
| 18:61816597:TTCT:T | acceptor_loss | 0.9800 |
| 18:61816598:TCTG:T | acceptor_loss | 0.9800 |
| 18:61816599:C:A | acceptor_loss | 0.9800 |
| 18:61816600:T:C | acceptor_loss | 0.9800 |
| 18:61838965:T:A | donor_gain | 0.9800 |
| 18:61839055:A:T | acceptor_gain | 0.9800 |
| 18:61890527:C:CT | acceptor_gain | 0.9800 |
| 18:61890528:A:C | acceptor_gain | 0.9800 |
| 18:61838971:CA:C | donor_gain | 0.9700 |
| 18:61892789:GGTTA:G | donor_loss | 0.9700 |
| 18:61892790:GTTAC:G | donor_loss | 0.9700 |
| 18:61892791:TTAC:T | donor_loss | 0.9700 |
| 18:61892792:TA:T | donor_loss | 0.9700 |
| 18:61892793:ACCT:A | donor_loss | 0.9700 |
| 18:61892794:CCTG:C | donor_loss | 0.9700 |
| 18:61893658:T:TA | donor_gain | 0.9700 |
| 18:61814798:CCAAA:C | donor_gain | 0.9600 |
| 18:61814861:TTAAA:T | donor_gain | 0.9600 |
| 18:61814862:TAAAT:T | donor_gain | 0.9600 |
| 18:61814863:A:AC | donor_gain | 0.9600 |
AlphaMissense
1311 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:61816312:C:G | C51S | 1.000 |
| 18:61816313:A:G | C51R | 1.000 |
| 18:61816313:A:T | C51S | 1.000 |
| 18:61816350:G:C | C38W | 1.000 |
| 18:61816351:C:T | C38Y | 1.000 |
| 18:61816352:A:G | C38R | 1.000 |
| 18:61816359:A:C | C35W | 1.000 |
| 18:61816360:C:T | C35Y | 1.000 |
| 18:61816361:A:G | C35R | 1.000 |
| 18:61816386:C:A | K26N | 1.000 |
| 18:61816386:C:G | K26N | 1.000 |
| 18:61816390:G:T | P25H | 1.000 |
| 18:61816419:A:C | C15W | 1.000 |
| 18:61816420:C:A | C15F | 1.000 |
| 18:61816420:C:G | C15S | 1.000 |
| 18:61816420:C:T | C15Y | 1.000 |
| 18:61816421:A:G | C15R | 1.000 |
| 18:61816421:A:T | C15S | 1.000 |
| 18:61816430:A:G | C12R | 1.000 |
| 18:61815873:G:C | F197L | 0.999 |
| 18:61815873:G:T | F197L | 0.999 |
| 18:61815875:A:G | F197L | 0.999 |
| 18:61815904:A:G | L187P | 0.999 |
| 18:61815916:A:G | L183P | 0.999 |
| 18:61815919:A:G | L182P | 0.999 |
| 18:61815919:A:T | L182H | 0.999 |
| 18:61816258:A:G | L69P | 0.999 |
| 18:61816302:G:C | C54W | 0.999 |
| 18:61816303:C:A | C54F | 0.999 |
| 18:61816303:C:G | C54S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000014159 (18:61856379 T>C), RS1000066455 (18:61856741 T>C), RS1000076826 (18:61859510 A>G), RS1000082760 (18:61850438 T>C), RS1000092058 (18:61818252 A>G), RS1000100540 (18:61809763 A>G), RS1000134195 (18:61852700 T>C), RS1000181177 (18:61849038 T>C), RS1000185603 (18:61853293 G>A), RS1000196066 (18:61884170 A>T), RS1000197234 (18:61810491 A>C), RS1000197724 (18:61843209 C>T), RS1000214302 (18:61832240 A>G), RS1000248188 (18:61893682 C>T), RS1000287689 (18:61823831 G>A,T)
Disease associations
OMIM: gene MIM:616512 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003372_4 | Glomerular filtration rate (creatinine) | 3.000000e-06 |
| GCST004292_49 | Glomerular filtration rate (creatinine) | 3.000000e-08 |
| GCST007344_76 | Estimated glomerular filtration rate | 5.000000e-09 |
| GCST007876_71 | Estimated glomerular filtration rate | 4.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| Benzo(a)pyrene | increases methylation, decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Valproic Acid | decreases methylation, affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | increases methylation | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Dimethyl Sulfoxide | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Cyclosporine | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Palmitic Acid | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4BY | HEK293T TetOff-SNCA-A53T EGFP-RNF152-IRES-mScarlet-I | Transformed cell line | Female |
| CVCL_E4JW | HEK293T TetOff-SNCA-A53T EGFP-RNF152-IRES-mScarlet-I TMEM192-3xHA | 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.