NEURL4
gene geneOn this page
Also known as KIAA1787
Summary
NEURL4 (neuralized E3 ubiquitin protein ligase 4, HGNC:34410) is a protein-coding gene on chromosome 17p13.1, encoding Neuralized-like protein 4 (Q96JN8). Promotes CCP110 ubiquitination and proteasome-dependent degradation.
The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants.
Source: NCBI Gene 84461 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 246 total
- MANE Select transcript:
NM_032442
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:34410 |
| Approved symbol | NEURL4 |
| Name | neuralized E3 ubiquitin protein ligase 4 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1787 |
| Ensembl gene | ENSG00000215041 |
| Ensembl biotype | protein_coding |
| OMIM | 615865 |
| Entrez | 84461 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 7 retained_intron, 6 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000315614, ENST00000399464, ENST00000570460, ENST00000571243, ENST00000571508, ENST00000571887, ENST00000572029, ENST00000572680, ENST00000573186, ENST00000573651, ENST00000574120, ENST00000576485, ENST00000576794, ENST00000576966, ENST00000906086, ENST00000948436
RefSeq mRNA: 2 — MANE Select: NM_032442
NM_001005408, NM_032442
CCDS: CCDS42251, CCDS42252
Canonical transcript exons
ENST00000399464 — 29 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001142445 | 7320759 | 7320923 |
| ENSE00001273694 | 7324108 | 7324270 |
| ENSE00001273733 | 7326711 | 7327009 |
| ENSE00001273746 | 7327440 | 7327884 |
| ENSE00001273892 | 7327165 | 7327230 |
| ENSE00001273974 | 7321112 | 7321273 |
| ENSE00001273982 | 7321361 | 7321459 |
| ENSE00001273990 | 7321560 | 7321787 |
| ENSE00001274015 | 7324799 | 7324980 |
| ENSE00002637256 | 7315628 | 7316327 |
| ENSE00002638471 | 7329031 | 7329335 |
| ENSE00003468896 | 7317461 | 7317573 |
| ENSE00003471095 | 7323814 | 7324012 |
| ENSE00003475012 | 7318065 | 7318172 |
| ENSE00003557285 | 7323485 | 7323563 |
| ENSE00003568912 | 7318269 | 7318356 |
| ENSE00003582150 | 7322948 | 7323123 |
| ENSE00003595799 | 7317205 | 7317370 |
| ENSE00003603387 | 7318495 | 7318674 |
| ENSE00003631485 | 7323647 | 7323723 |
| ENSE00003639165 | 7321865 | 7322010 |
| ENSE00003673936 | 7319050 | 7319208 |
| ENSE00003679944 | 7324395 | 7324480 |
| ENSE00003680818 | 7322735 | 7322866 |
| ENSE00003682291 | 7317788 | 7317932 |
| ENSE00003703160 | 7325209 | 7325473 |
| ENSE00003704498 | 7326255 | 7326343 |
| ENSE00003706020 | 7326437 | 7326548 |
| ENSE00003709627 | 7325641 | 7325713 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 95.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0754 / max 46.4957, expressed in 1571 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164211 | 4.0754 | 1571 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 95.36 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.87 | gold quality |
| cerebellum | UBERON:0002037 | 94.81 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.81 | gold quality |
| apex of heart | UBERON:0002098 | 94.76 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.92 | gold quality |
| pituitary gland | UBERON:0000007 | 93.44 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.25 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.17 | gold quality |
| right uterine tube | UBERON:0001302 | 92.54 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.52 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.48 | gold quality |
| granulocyte | CL:0000094 | 92.45 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.41 | gold quality |
| right ovary | UBERON:0002118 | 92.40 | gold quality |
| thyroid gland | UBERON:0002046 | 92.25 | gold quality |
| left ovary | UBERON:0002119 | 92.22 | gold quality |
| body of uterus | UBERON:0009853 | 91.98 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.88 | gold quality |
| left uterine tube | UBERON:0001303 | 91.84 | gold quality |
| frontal cortex | UBERON:0001870 | 91.80 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.74 | gold quality |
| lower esophagus | UBERON:0013473 | 91.73 | gold quality |
| transverse colon | UBERON:0001157 | 91.70 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.60 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.59 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.58 | gold quality |
| fundus of stomach | UBERON:0001160 | 91.57 | gold quality |
| spleen | UBERON:0002106 | 91.50 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.42 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6058 | no | 35.86 |
| E-ANND-3 | no | 2.83 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
36 targeting NEURL4, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-6797-3P | 99.17 | 66.94 | 668 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-6737-3P | 98.95 | 68.56 | 1577 |
| HSA-MIR-7157-3P | 98.95 | 68.70 | 1582 |
| HSA-MIR-5008-3P | 98.73 | 67.50 | 1433 |
| HSA-MIR-6761-5P | 98.71 | 68.03 | 1504 |
| HSA-MIR-619-5P | 98.57 | 64.97 | 1988 |
| HSA-MIR-4329 | 97.68 | 66.26 | 1003 |
| HSA-MIR-8057 | 97.64 | 66.54 | 897 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-4448 | 97.04 | 66.22 | 752 |
| HSA-MIR-5702 | 96.68 | 68.21 | 958 |
| HSA-MIR-642B-5P | 96.37 | 67.26 | 745 |
| HSA-MIR-4296 | 96.35 | 63.55 | 1233 |
Literature-anchored findings (GeneRIF, showing 4)
- the NEURL4-HERC2 complex participates in the ubiquitin-dependent regulation of centrosome architecture (PMID:22261722)
- Neurl4 counteracts accumulation of CP110, thereby maintaining normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centres (PMID:22441691)
- The data support a model in which the daughter centriole promotes ciliogenesis through Neurl-4-dependent regulation of CP110 levels at the mother centriole. (PMID:28385950)
- Neuralized-like protein 4 (NEURL4) mediates ADP-ribosylation of mitochondrial proteins. (PMID:35157000)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | neurl4 | ENSDARG00000078127 |
| mus_musculus | Neurl4 | ENSMUSG00000047284 |
| rattus_norvegicus | Neurl4 | ENSRNOG00000016109 |
| drosophila_melanogaster | Neurl4 | FBGN0283503 |
Paralogs (3): NEURL1 (ENSG00000107954), NEURL3 (ENSG00000163121), NEURL1B (ENSG00000214357)
Protein
Protein identifiers
Neuralized-like protein 4 — Q96JN8 (reviewed: Q96JN8)
All UniProt accessions (5): Q96JN8, I3L100, I3L2W2, I3L2Z9, K7EPS7
UniProt curated annotations — full annotation on UniProt →
Function. Promotes CCP110 ubiquitination and proteasome-dependent degradation. By counteracting accumulation of CP110, maintains normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centers.
Subunit / interactions. Interacts with CCP110; this interaction propmotes CCP110 ubiquitination and degradation via the proteasome pathway. Via its interaction with CCP110, may indirectly interact with CEP97. Interacts with the E3 ubiquitin-protein ligase HERC2 and UBE3A. May interact with MAPK6 and hence mediate MAPK6 interaction with UBE3A. Interaction with UBE3A may be indirect and mediated by HERC2.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.
Tissue specificity. Widely expressed at high levels (including brain).
Post-translational modifications. Ubiquitinated; undergoes HERC2-dependent ‘Lys-48’ ubiquitination. This ubiquitination leads to proteasomal degradation.
Domain organisation. The third NHR domain (NHR 3) is required for localization to both mother and daughter centrioles. NHR 1 restricts targeting to daughter centriole. NHR 3 and 4 are required for CCP110/CEP97-binding, but not for HERC2-binding. NHR 5 and 6 are important for HERC2-binding and centrosomal localization.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96JN8-1 | 1 | yes |
| Q96JN8-2 | 2 |
RefSeq proteins (2): NP_001005408, NP_115818* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006573 | NHR_dom | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR037962 | Neuralized | Family |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
Pfam: PF07177
UniProt features (37 total): strand 12, domain 6, region of interest 4, sequence conflict 4, compositionally biased region 3, modified residue 2, helix 2, chain 1, splice variant 1, sequence variant 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2E63 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96JN8-F1 | 76.26 | 0.41 |
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 (2): 502, 907
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 102 (showing top):
TTCCGTT_MIR191, GOBP_MITOCHONDRIAL_DNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_DNA_DAMAGE_RESPONSE, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOCC_CENTRIOLE, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_MITOCHONDRIAL_MATRIX, GOBP_DNA_METABOLIC_PROCESS, AAGCACA_MIR218, GOBP_DNA_REPAIR, GOMF_ACYLTRANSFERASE_ACTIVITY
GO Biological Process (2): spermatogenesis (GO:0007283), mitochondrial DNA repair (GO:0043504)
GO Molecular Function (4): DNA binding (GO:0003677), NAD+-dinitrogen-reductase ADP-D-ribosyltransferase activity (GO:0030701), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), centriole (GO:0005814), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitochondrion | 2 |
| intracellular membraneless organelle | 2 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| DNA repair | 1 |
| mitochondrial DNA metabolic process | 1 |
| nucleic acid binding | 1 |
| pentosyltransferase activity | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular organelle lumen | 1 |
| microtubule organizing center | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
984 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NEURL4 | CCP110 | O43303 | 753 |
| NEURL4 | MAPK6 | Q16659 | 729 |
| NEURL4 | UBE3A | P78355 | 672 |
| NEURL4 | HERC2 | O95714 | 651 |
| NEURL4 | CEP97 | Q8IW35 | 641 |
| NEURL4 | CEP290 | O15078 | 596 |
| NEURL4 | CEP120 | Q8N960 | 577 |
| NEURL4 | STIL | Q15468 | 533 |
| NEURL4 | KTN1 | Q86UP2 | 531 |
| NEURL4 | ERCC3 | P19447 | 521 |
| NEURL4 | CEP170 | Q5SW79 | 520 |
| NEURL4 | USP33 | Q8TEY7 | 520 |
| NEURL4 | DRC2 | Q8IXS2 | 513 |
| NEURL4 | CEP76 | Q8TAP6 | 506 |
| NEURL4 | LRRK2 | Q5S007 | 497 |
IntAct
133 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEP97 | CCP110 | psi-mi:“MI:0914”(association) | 0.950 |
| CCP110 | CEP290 | psi-mi:“MI:0914”(association) | 0.890 |
| MAPK6 | HERC2 | psi-mi:“MI:0914”(association) | 0.840 |
| CCP110 | CCNF | psi-mi:“MI:0914”(association) | 0.790 |
| CEP97 | CEP290 | psi-mi:“MI:0914”(association) | 0.740 |
| CEP76 | CEP290 | psi-mi:“MI:0914”(association) | 0.740 |
| PSMD2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.730 |
| PSMC4 | PSMD11 | psi-mi:“MI:0914”(association) | 0.670 |
| DBNL | HERC2 | psi-mi:“MI:0914”(association) | 0.670 |
| PSMC2 | PSMD12 | psi-mi:“MI:0914”(association) | 0.640 |
| DNAJC7 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM98A | HERC2 | psi-mi:“MI:0914”(association) | 0.640 |
| NEURL4 | CCP110 | psi-mi:“MI:0915”(physical association) | 0.640 |
| NEURL4 | CCP110 | psi-mi:“MI:0914”(association) | 0.640 |
| NEURL4 | CCP110 | psi-mi:“MI:0403”(colocalization) | 0.640 |
| CCP110 | NEURL4 | psi-mi:“MI:0407”(direct interaction) | 0.640 |
| MAPK6 | ECI2 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFD | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| SPZ1 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| CDR2 | IGSF3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF669 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| USP16 | HERC2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF286A | HERC2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (216): NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Proximity Label-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS)
ESM2 similar proteins: A1L0Y2, A2ALK8, A2ARP1, A2Z8S0, A4IFG2, A8XT88, B1AVZ0, B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4KA23, B4LVS8, B4NKI9, B4PVH6, B4QVW6, M9MRI4, O35242, O76050, P0C644, P26045, Q18223, Q29B63, Q29RQ5, Q3MHZ2, Q3UJK4, Q571F5, Q5M870, Q5NCX5, Q5PQR3, Q5R881, Q6PFW1, Q6PJ21, Q75G68, Q8BVR6, Q8C726, Q8CJC5, Q8R516, Q91YL3, Q91ZY8
Diamond homologs: A1L0Y2, Q5NCX5, Q96JN8, Q9BR09, Q9D0S4, A8MQ27, P29503, Q0MW30, Q24746, Q5M870, Q8CJC5, Q96EH8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HERC2 | “down-regulates quantity by destabilization” | NEURL4 | polyubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 142 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 |
|---|---|---|---|
| Autodegradation of the E3 ubiquitin ligase COP1 | 8 | 24.1× | 2e-07 |
| Regulation of activated PAK-2p34 by proteasome mediated degradation | 7 | 22.2× | 2e-06 |
| Regulation of ornithine decarboxylase (ODC) | 7 | 21.6× | 2e-06 |
| Vpu mediated degradation of CD4 | 7 | 21.1× | 2e-06 |
| Ubiquitin-dependent degradation of Cyclin D | 7 | 21.1× | 2e-06 |
| Cross-presentation of soluble exogenous antigens (endosomes) | 7 | 20.2× | 2e-06 |
| Vif-mediated degradation of APOBEC3G | 7 | 20.2× | 2e-06 |
| The role of GTSE1 in G2/M progression after G2 checkpoint | 11 | 20.1× | 2e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitotic spindle organization | 6 | 12.9× | 5e-03 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 11 | 4.5× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
246 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 195 |
| Likely benign | 15 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4583 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:7316182:A:AC | donor_gain | 1.0000 |
| 17:7316183:C:CC | donor_gain | 1.0000 |
| 17:7316328:C:CC | acceptor_gain | 1.0000 |
| 17:7317203:A:AC | donor_gain | 1.0000 |
| 17:7317204:C:CA | donor_gain | 1.0000 |
| 17:7317204:CTGCA:C | donor_gain | 1.0000 |
| 17:7317371:CT:C | acceptor_loss | 1.0000 |
| 17:7317371:CTGGG:C | acceptor_loss | 1.0000 |
| 17:7318251:C:CA | donor_gain | 1.0000 |
| 17:7319046:TCACC:T | donor_loss | 1.0000 |
| 17:7319047:CA:C | donor_loss | 1.0000 |
| 17:7319048:A:AC | donor_gain | 1.0000 |
| 17:7319048:A:C | donor_loss | 1.0000 |
| 17:7319049:C:CC | donor_gain | 1.0000 |
| 17:7319049:C:CG | donor_loss | 1.0000 |
| 17:7319206:CAC:C | acceptor_gain | 1.0000 |
| 17:7319208:CCT:C | acceptor_loss | 1.0000 |
| 17:7320754:CCCA:C | donor_loss | 1.0000 |
| 17:7320755:CCA:C | donor_loss | 1.0000 |
| 17:7320757:A:T | donor_loss | 1.0000 |
| 17:7320758:C:CG | donor_loss | 1.0000 |
| 17:7320923:CCTGG:C | acceptor_gain | 1.0000 |
| 17:7321110:A:AC | donor_gain | 1.0000 |
| 17:7321110:ACT:A | donor_gain | 1.0000 |
| 17:7321110:ACTC:A | donor_gain | 1.0000 |
| 17:7321111:C:CC | donor_gain | 1.0000 |
| 17:7321111:CT:C | donor_gain | 1.0000 |
| 17:7321111:CTC:C | donor_gain | 1.0000 |
| 17:7321111:CTCC:C | donor_gain | 1.0000 |
| 17:7321113:C:CA | donor_gain | 1.0000 |
AlphaMissense
10134 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:7318508:C:A | G1284V | 1.000 |
| 17:7318508:C:T | G1284E | 1.000 |
| 17:7319181:A:G | W1185R | 1.000 |
| 17:7319181:A:T | W1185R | 1.000 |
| 17:7320832:G:T | A1151D | 1.000 |
| 17:7320883:A:G | F1134S | 1.000 |
| 17:7322832:A:C | C876W | 1.000 |
| 17:7322833:C:T | C876Y | 1.000 |
| 17:7322834:A:G | C876R | 1.000 |
| 17:7322839:C:A | G874V | 1.000 |
| 17:7322839:C:T | G874D | 1.000 |
| 17:7322840:C:A | G874C | 1.000 |
| 17:7322840:C:G | G874R | 1.000 |
| 17:7322840:C:T | G874S | 1.000 |
| 17:7322842:T:C | Y873C | 1.000 |
| 17:7322843:A:G | Y873H | 1.000 |
| 17:7322845:A:G | L872P | 1.000 |
| 17:7322845:A:T | L872H | 1.000 |
| 17:7322848:T:A | D871V | 1.000 |
| 17:7322848:T:C | D871G | 1.000 |
| 17:7322848:T:G | D871A | 1.000 |
| 17:7322849:C:A | D871Y | 1.000 |
| 17:7322849:C:G | D871H | 1.000 |
| 17:7322851:A:T | V870D | 1.000 |
| 17:7322857:G:T | A868E | 1.000 |
| 17:7323005:A:C | Y846D | 1.000 |
| 17:7323010:A:G | L844P | 1.000 |
| 17:7323037:C:T | G835D | 1.000 |
| 17:7323040:A:T | I834N | 1.000 |
| 17:7323064:T:A | D826V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000208987 (17:7318413 C>T), RS1000263544 (17:7315770 G>A), RS1000294784 (17:7320590 T>C), RS1000447524 (17:7321540 C>A,T), RS1000454241 (17:7315448 G>A), RS1000800737 (17:7315548 T>G), RS1000811383 (17:7319848 G>A), RS1000871395 (17:7326012 T>A,C), RS1000880429 (17:7321181 A>G), RS1001002647 (17:7325898 C>G), RS1001184473 (17:7320112 G>A), RS1001228200 (17:7319714 A>C), RS1001496742 (17:7322362 T>G), RS1001546349 (17:7329372 G>A), RS1002404031 (17:7324339 C>A,T)
Disease associations
OMIM: gene MIM:615865 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST011097_2 | Systemic lupus erythematosus | 1.000000e-08 |
| GCST90000025_118 | Appendicular lean mass | 7.000000e-10 |
| GCST90014023_5 | Type 1 diabetes | 2.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, affects expression, increases abundance | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, increases oxidation, affects expression | 2 |
| Benzo(a)pyrene | increases methylation, increases mutagenesis | 2 |
| Ozone | increases oxidation, increases abundance, affects expression, affects cotreatment, increases expression | 2 |
| Cadmium Chloride | increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| ginger extract | affects cotreatment, affects expression, increases abundance | 1 |
| dicrotophos | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases oxidation, increases abundance | 1 |
| titanium dioxide | decreases methylation, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| methacrylaldehyde | increases expression, increases oxidation, increases abundance, affects cotreatment | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases oxidation, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Oils, Volatile | affects expression, increases abundance, affects cotreatment | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | increases expression, increases abundance | 1 |
| Volatile Organic Compounds | affects cotreatment, increases expression, increases oxidation | 1 |
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.