RNF19B
gene geneOn this page
Also known as FLJ90005NKLAM
Summary
RNF19B (ring finger protein 19B, HGNC:26886) is a protein-coding gene on chromosome 1p35.1, encoding E3 ubiquitin-protein ligase RNF19B (Q6ZMZ0). E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1.
This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region.
Source: NCBI Gene 127544 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 112 total
- MANE Select transcript:
NM_001300826
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26886 |
| Approved symbol | RNF19B |
| Name | ring finger protein 19B |
| Location | 1p35.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ90005, NKLAM |
| Ensembl gene | ENSG00000116514 |
| Ensembl biotype | protein_coding |
| OMIM | 610872 |
| Entrez | 127544 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 15 protein_coding
ENST00000235150, ENST00000356990, ENST00000373456, ENST00000921592, ENST00000921593, ENST00000921594, ENST00000959790, ENST00000959791, ENST00000959792, ENST00000959793, ENST00000959794, ENST00000959795, ENST00000959796, ENST00000959797, ENST00000959798
RefSeq mRNA: 3 — MANE Select: NM_001300826
NM_001127361, NM_001300826, NM_153341
CCDS: CCDS372, CCDS44107, CCDS72754
Canonical transcript exons
ENST00000235150 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000764275 | 32938397 | 32938528 |
| ENSE00000764276 | 32942252 | 32942459 |
| ENSE00000764277 | 32944019 | 32944159 |
| ENSE00000764278 | 32945514 | 32945628 |
| ENSE00000764279 | 32946402 | 32946564 |
| ENSE00000764281 | 32949569 | 32949774 |
| ENSE00000826573 | 32948222 | 32948363 |
| ENSE00001762997 | 32936449 | 32937259 |
| ENSE00003907808 | 32964051 | 32964809 |
Expression profiles
Bgee: expression breadth ubiquitous, 271 present calls, max score 95.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.4821 / max 1123.8292, expressed in 1814 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 11578 | 21.3245 | 1771 |
| 11580 | 3.6985 | 1373 |
| 11579 | 2.3883 | 1368 |
| 11581 | 1.0708 | 526 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 95.89 | gold quality |
| right testis | UBERON:0004534 | 95.77 | gold quality |
| testis | UBERON:0000473 | 94.00 | gold quality |
| type B pancreatic cell | CL:0000169 | 93.26 | gold quality |
| monocyte | CL:0000576 | 93.06 | gold quality |
| mononuclear cell | CL:0000842 | 93.04 | gold quality |
| leukocyte | CL:0000738 | 92.95 | gold quality |
| ileal mucosa | UBERON:0000331 | 92.34 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.12 | gold quality |
| blood | UBERON:0000178 | 91.63 | gold quality |
| cortical plate | UBERON:0005343 | 90.51 | gold quality |
| granulocyte | CL:0000094 | 90.41 | gold quality |
| rectum | UBERON:0001052 | 89.66 | gold quality |
| olfactory bulb | UBERON:0002264 | 89.55 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 89.23 | gold quality |
| esophagus mucosa | UBERON:0002469 | 88.94 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.80 | gold quality |
| cartilage tissue | UBERON:0002418 | 88.19 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 87.85 | gold quality |
| duodenum | UBERON:0002114 | 87.79 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 87.75 | gold quality |
| transverse colon | UBERON:0001157 | 87.20 | gold quality |
| vermiform appendix | UBERON:0001154 | 86.74 | gold quality |
| male germ cell | CL:0000015 | 86.57 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 86.57 | gold quality |
| gall bladder | UBERON:0002110 | 86.54 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.22 | gold quality |
| jejunal mucosa | UBERON:0000399 | 86.19 | gold quality |
| popliteal artery | UBERON:0002250 | 86.14 | gold quality |
| tibial artery | UBERON:0007610 | 86.13 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.64 |
| E-GEOD-110499 | no | 197.34 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EZH2
miRNA regulators (miRDB)
34 targeting RNF19B, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-183-3P | 99.41 | 69.41 | 1598 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4711-3P | 98.97 | 66.87 | 1020 |
| HSA-MIR-648 | 98.64 | 66.13 | 553 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-603 | 98.58 | 68.28 | 1603 |
Literature-anchored findings (GeneRIF, showing 1)
- NKLAM is a positive regulator of STAT1-mediated transcriptional activity and is an important component of the innate immune response. (PMID:27570112)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rnf19b | ENSDARG00000060926 |
| mus_musculus | Rnf19b | ENSMUSG00000028793 |
| rattus_norvegicus | Rnf19b | ENSRNOG00000000123 |
| caenorhabditis_elegans | WBGENE00015926 | |
| caenorhabditis_elegans | WBGENE00021721 |
Paralogs (9): ANKIB1 (ENSG00000001629), RNF14 (ENSG00000013561), RNF19A (ENSG00000034677), RNF144B (ENSG00000137393), RNF217 (ENSG00000146373), RNF144A (ENSG00000151692), ARIH1 (ENSG00000166233), ARIH2 (ENSG00000177479), PRKN (ENSG00000185345)
Protein
Protein identifiers
E3 ubiquitin-protein ligase RNF19B — Q6ZMZ0 (reviewed: Q6ZMZ0)
Alternative names: IBR domain-containing protein 3, Natural killer lytic-associated molecule, RING finger protein 19B
All UniProt accessions (1): Q6ZMZ0
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1. Involved in the cytolytic activity of natural killer cells and cytotoxic T-cells. Protects against staurosporin-induced cell death.
Subunit / interactions. Interacts with UBE2L3, UBE2L6 and UCKL1.
Subcellular location. Cytoplasmic granule membrane. Endoplasmic reticulum membrane.
Tissue specificity. Expressed specifically in natural killer cells, activated macrophages and cytotoxic T-cells. Present in natural killer cells (at protein level). Ubiquitously expressed with high expression in testis.
Domain organisation. The first IBR-type zinc finger is the most crucial for interaction with UBE2L3, UBE2L6 and UCKL1. Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
Induction. In natural killer cells, by IFNB1/IFN-beta and IL2/interleukin-2 (at protein level). Up-regulated by endoplasmic reticulum (ER) stress triggered by thapsigargin or tunicamycin.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the RBR family. RNF19 subfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZMZ0-1 | 1 | yes |
| Q6ZMZ0-2 | 2 | |
| Q6ZMZ0-3 | 3 | |
| Q6ZMZ0-4 | 4 |
RefSeq proteins (3): NP_001120833, NP_001287755, NP_699172 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR002867 | IBR_dom | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR031127 | E3_UB_ligase_RBR | Family |
| IPR044066 | TRIAD_supradom | Domain |
Pfam: PF01485, PF22191
UniProt features (40 total): binding site 20, compositionally biased region 4, splice variant 4, region of interest 4, zinc finger region 3, transmembrane region 2, chain 1, active site 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZMZ0-F1 | 59.07 | 0.20 |
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): 302
Ligand- & substrate-binding residues (20): 119; 122; 142; 145; 206; 211; 228; 233; 238; 241; 246; 251 …
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-9958825 | Activation of STAT3 by cadherin engagement |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 397 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_BCELL_UP, MYOGENIN_Q6, PAX4_01, TGCGCANK_UNKNOWN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GCANCTGNY_MYOD_Q6, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, BROWNE_HCMV_INFECTION_16HR_UP, TGACCTY_ERR1_Q2
GO Biological Process (6): adaptive immune response (GO:0002250), ubiquitin-dependent protein catabolic process (GO:0006511), natural killer cell mediated cytotoxicity (GO:0042267), protein autoubiquitination (GO:0051865), immune system process (GO:0002376), protein ubiquitination (GO:0016567)
GO Molecular Function (8): zinc ion binding (GO:0008270), ubiquitin conjugating enzyme binding (GO:0031624), ubiquitin binding (GO:0043130), ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (7): ubiquitin ligase complex (GO:0000151), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), cytolytic granule (GO:0044194), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
| Adherens junctions interactions | 1 |
| Immune System | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein ubiquitination | 2 |
| cytoplasm | 2 |
| immune response | 1 |
| modification-dependent protein catabolic process | 1 |
| leukocyte mediated cytotoxicity | 1 |
| natural killer cell mediated immunity | 1 |
| biological_process | 1 |
| protein modification by small protein conjugation | 1 |
| transition metal ion binding | 1 |
| ubiquitin-like protein conjugating enzyme binding | 1 |
| ubiquitin-like protein binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| ubiquitin-like protein transferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| lysosome | 1 |
Protein interactions and networks
STRING
805 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF19B | UCKL1 | Q9NWZ5 | 938 |
| RNF19B | UBE2L6 | O14933 | 605 |
| RNF19B | UCK2 | Q9BZX2 | 577 |
| RNF19B | GZMB | P10144 | 492 |
| RNF19B | IFNB1 | P01574 | 422 |
| RNF19B | RNF217 | Q8TC41 | 418 |
| RNF19B | N4BP1 | O75113 | 417 |
| RNF19B | TTC13 | Q8NBP0 | 397 |
| RNF19B | UBR7 | Q8N806 | 375 |
| RNF19B | PLA2G6 | O60733 | 375 |
| RNF19B | RNF216 | Q9NWF9 | 375 |
| RNF19B | RNFT1 | Q5M7Z0 | 360 |
| RNF19B | USP18 | Q9UMW8 | 355 |
| RNF19B | RNF144A | P50876 | 348 |
| RNF19B | ASB11 | Q8WXH4 | 340 |
IntAct
103 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNF19B | AP1M1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| UCKL1 | RNF19B | psi-mi:“MI:0915”(physical association) | 0.600 |
| RNF19B | UCKL1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| UCKL1 | RNF19B | psi-mi:“MI:0403”(colocalization) | 0.600 |
| CDIPT | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPAN2 | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAP1GDS1 | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | TMEM100 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | GIMAP5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEST | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNF | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | TMEM208 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | SACM1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFSD5 | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOSR2 | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | CLEC1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| MS4A1 | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ICMT | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | SEC22A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | SELENOK | psi-mi:“MI:0915”(physical association) | 0.560 |
| TAP1 | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| DHODH | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | SLC30A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SEC23A | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| FDPS | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM120B | RNF19B | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (125): RNF19B (Affinity Capture-MS), RNF19B (Affinity Capture-MS), RNF19B (Affinity Capture-MS), KIAA0753 (Affinity Capture-MS), VPS13C (Affinity Capture-MS), UBB (Affinity Capture-MS), USP4 (Affinity Capture-MS), DDX49 (Affinity Capture-MS), USP15 (Affinity Capture-MS), USP46 (Affinity Capture-MS), FAM91A1 (Affinity Capture-MS), MPP5 (Affinity Capture-MS), CPNE7 (Affinity Capture-MS), WDR20 (Affinity Capture-MS), CDC27 (Affinity Capture-MS)
ESM2 similar proteins: A2A7Q9, F1LXF1, O08873, O14795, O35274, O46606, P11274, P12755, P22681, P22682, P49797, P50636, Q08B84, Q0VGY8, Q1L8L6, Q2VJ60, Q3UR85, Q3YEC7, Q4KUS2, Q60698, Q62768, Q69ZT9, Q6PAJ1, Q6R891, Q6T4P5, Q6ZMZ0, Q6ZWB6, Q7TMB0, Q7TPB0, Q80U28, Q86YJ5, Q8HXH0, Q8NEL9, Q8TEK3, Q8WXG6, Q8WXH2, Q92622, Q92625, Q96SB3, Q9CXG9
Diamond homologs: A2A7Q9, O01965, P50636, Q08B84, Q1L8L6, Q2VJ60, Q54CX4, Q6ZMZ0, Q9NV58, Q9P3U4, Q9SKC3, A2VEA3, A5PK27, B1H1E4, F4KGU4, O76924, O95376, P0C8K8, P36113, Q1L8G6, Q22431, Q32NS4, Q5RFV4, Q5UQ35, Q6NW85, Q6PFJ9, Q6T486, Q7Z419, Q84RQ8, Q84RR0, Q84RR2, Q8BKD6, Q8L829, Q94981, Q949V6, Q9LVW9, Q9LVX0, Q9SKC2, Q9SKC4, Q9Y4X5
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF19B | ubiquitination |
| RNF19B | “down-regulates quantity by destabilization” | UCKL1 | ubiquitination |
| UBE2L3 | “up-regulates activity” | RNF19B | binding |
| UBE2E2 | “up-regulates activity” | RNF19B | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 92 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1067 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:32937256:TTCT:T | acceptor_gain | 1.0000 |
| 1:32937258:CT:C | acceptor_gain | 1.0000 |
| 1:32937260:C:CC | acceptor_gain | 1.0000 |
| 1:32938392:CATA:C | donor_loss | 1.0000 |
| 1:32938393:ATACC:A | donor_loss | 1.0000 |
| 1:32938394:TAC:T | donor_loss | 1.0000 |
| 1:32938524:CTAAC:C | acceptor_gain | 1.0000 |
| 1:32938527:ACC:A | acceptor_loss | 1.0000 |
| 1:32938529:C:CA | acceptor_loss | 1.0000 |
| 1:32938531:G:C | acceptor_gain | 1.0000 |
| 1:32942460:C:CC | acceptor_gain | 1.0000 |
| 1:32944006:T:TA | donor_gain | 1.0000 |
| 1:32944013:TTTTA:T | donor_loss | 1.0000 |
| 1:32944014:TTTAC:T | donor_loss | 1.0000 |
| 1:32944015:TTACC:T | donor_loss | 1.0000 |
| 1:32944016:TACCT:T | donor_loss | 1.0000 |
| 1:32944017:ACCTG:A | donor_loss | 1.0000 |
| 1:32944155:AATAC:A | acceptor_gain | 1.0000 |
| 1:32944156:ATAC:A | acceptor_gain | 1.0000 |
| 1:32944156:ATACC:A | acceptor_loss | 1.0000 |
| 1:32944157:TAC:T | acceptor_gain | 1.0000 |
| 1:32944157:TACCT:T | acceptor_loss | 1.0000 |
| 1:32944158:AC:A | acceptor_gain | 1.0000 |
| 1:32944158:ACCTG:A | acceptor_loss | 1.0000 |
| 1:32944159:CC:C | acceptor_gain | 1.0000 |
| 1:32944160:C:A | acceptor_loss | 1.0000 |
| 1:32944160:C:CC | acceptor_gain | 1.0000 |
| 1:32944161:T:G | acceptor_loss | 1.0000 |
| 1:32945513:CCAA:C | donor_gain | 1.0000 |
| 1:32945522:A:AC | donor_gain | 1.0000 |
AlphaMissense
4791 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:32944103:A:G | C441R | 1.000 |
| 1:32944105:A:G | L440P | 1.000 |
| 1:32944105:A:T | L440H | 1.000 |
| 1:32944114:G:C | P437R | 1.000 |
| 1:32944114:G:T | P437H | 1.000 |
| 1:32944120:A:T | V435D | 1.000 |
| 1:32944123:C:T | G434E | 1.000 |
| 1:32944124:C:G | G434R | 1.000 |
| 1:32944124:C:T | G434R | 1.000 |
| 1:32944127:A:G | Y433H | 1.000 |
| 1:32944129:A:T | V432D | 1.000 |
| 1:32944133:A:C | Y431D | 1.000 |
| 1:32944133:A:G | Y431H | 1.000 |
| 1:32944135:G:T | A430E | 1.000 |
| 1:32944138:A:G | L429P | 1.000 |
| 1:32944138:A:T | L429Q | 1.000 |
| 1:32944141:A:C | M428R | 1.000 |
| 1:32944141:A:T | M428K | 1.000 |
| 1:32944144:A:T | I427N | 1.000 |
| 1:32944147:G:C | P426R | 1.000 |
| 1:32944147:G:T | P426H | 1.000 |
| 1:32944153:C:T | G424D | 1.000 |
| 1:32944154:C:G | G424R | 1.000 |
| 1:32944159:C:T | G422D | 1.000 |
| 1:32945514:C:G | G422R | 1.000 |
| 1:32945516:A:T | V421D | 1.000 |
| 1:32945518:A:C | S420R | 1.000 |
| 1:32945518:A:T | S420R | 1.000 |
| 1:32945520:T:G | S420R | 1.000 |
| 1:32945522:A:T | V419D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000071009 (1:32963837 G>A), RS1000084351 (1:32957566 G>A), RS1000123025 (1:32963586 C>T), RS1000186427 (1:32963707 G>C), RS1000191161 (1:32932382 A>G), RS1000301037 (1:32960833 CAAA>C), RS1000341343 (1:32966066 C>A), RS1000354775 (1:32931611 G>A), RS1000452805 (1:32943822 A>C), RS1000456438 (1:32957756 C>T), RS1000707796 (1:32948444 T>C), RS1000806411 (1:32933488 C>T), RS1000858023 (1:32939954 T>C), RS1000862353 (1:32966436 A>G), RS1000889304 (1:32939513 C>T)
Disease associations
OMIM: gene MIM:610872 | 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 |
|---|---|---|
| GCST009066_2 | Mosaic loss of chromosome Y (Y chromosome dosage) | 4.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007783 | mosaic loss of chromosome Y measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
83 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 4 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 3 |
| Acetaminophen | increases expression | 3 |
| Cisplatin | decreases expression, increases expression | 3 |
| Nickel | increases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| Glupearl 19S | decreases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| zinc chromate | increases expression, increases abundance | 1 |
| chloroquine diphosphate | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| motexafin gadolinium | increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1HA | Abcam A-549 RNF19B KO 2 | Cancer cell line | Male |
| CVCL_B2PT | Abcam A-549 RNF19B KO 1 | Cancer cell line | Male |
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.