PWWP2A
gene geneOn this page
Also known as KIAA1935
Summary
PWWP2A (PWWP domain containing 2A, HGNC:29406) is a protein-coding gene on chromosome 5q33.3, encoding PWWP domain-containing protein 2A (Q96N64). Chromatin-binding protein that acts as an adapter between distinct nucleosome components (H3K36me3 or H2A.Z) and chromatin-modifying complexes, contributing to the regulation of the levels of histone acetylation at actively transcribed genes.
Enables NuRD complex binding activity; chromatin binding activity; and methylated histone binding activity. Involved in chromatin remodeling. Located in nucleus.
Source: NCBI Gene 114825 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 114 total — 1 likely-pathogenic
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
- MANE Select transcript:
NM_001130864
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29406 |
| Approved symbol | PWWP2A |
| Name | PWWP domain containing 2A |
| Location | 5q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1935 |
| Ensembl gene | ENSG00000170234 |
| Ensembl biotype | protein_coding |
| OMIM | 617823 |
| Entrez | 114825 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000307063, ENST00000456329, ENST00000520662, ENST00000521424, ENST00000523662, ENST00000524050, ENST00000934498
RefSeq mRNA: 6 — MANE Select: NM_001130864
NM_001130864, NM_001267035, NM_001349733, NM_001349734, NM_001349735, NM_052927
CCDS: CCDS47331, CCDS47332, CCDS58990
Canonical transcript exons
ENST00000307063 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001671969 | 160091339 | 160094065 |
| ENSE00003843828 | 160118805 | 160119450 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 92.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.5206 / max 117.4308, expressed in 1705 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 64616 | 7.5206 | 1705 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 92.75 | gold quality |
| endothelial cell | CL:0000115 | 91.49 | gold quality |
| corpus callosum | UBERON:0002336 | 89.93 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.20 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.24 | gold quality |
| thymus | UBERON:0002370 | 88.12 | gold quality |
| monocyte | CL:0000576 | 87.91 | gold quality |
| leukocyte | CL:0000738 | 87.83 | gold quality |
| tibialis anterior | UBERON:0001385 | 87.40 | silver quality |
| ventricular zone | UBERON:0003053 | 87.17 | gold quality |
| cerebellum | UBERON:0002037 | 86.57 | gold quality |
| visceral pleura | UBERON:0002401 | 86.50 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.34 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.25 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.20 | gold quality |
| cerebellar vermis | UBERON:0004720 | 86.00 | gold quality |
| rectum | UBERON:0001052 | 85.68 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.64 | gold quality |
| embryo | UBERON:0000922 | 85.63 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 85.04 | gold quality |
| bone marrow cell | CL:0002092 | 84.93 | gold quality |
| upper arm skin | UBERON:0004263 | 84.90 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.89 | gold quality |
| cortical plate | UBERON:0005343 | 84.85 | gold quality |
| granulocyte | CL:0000094 | 84.37 | gold quality |
| uterine cervix | UBERON:0000002 | 84.20 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.19 | gold quality |
| parietal pleura | UBERON:0002400 | 84.12 | gold quality |
| pylorus | UBERON:0001166 | 83.60 | gold quality |
| deltoid | UBERON:0001476 | 83.47 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
43 targeting PWWP2A, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-548AG | 99.77 | 69.25 | 1492 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-548AI | 99.69 | 69.24 | 1494 |
| HSA-MIR-548BA | 99.69 | 69.14 | 1514 |
| HSA-MIR-570-5P | 99.69 | 69.24 | 1494 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-548L | 99.06 | 70.90 | 2560 |
| HSA-MIR-3190-5P | 98.87 | 64.89 | 1345 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-6796-3P | 98.68 | 65.49 | 689 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-4275 | 97.96 | 68.42 | 1549 |
Literature-anchored findings (GeneRIF, showing 4)
- Thus, PWWP2A is a novel H2A.Z-specific multivalent chromatin binder providing a surprising link between H2A.Z, chromosome segregation, and organ development. (PMID:28645917)
- Study in HeLa, HEK293F, and mouse embryonic stem cells reveal that loss of PWWP2A/B leads to increases in histone acetylation predominantly at highly expressed genes, accompanied by decreases in Pol II elongation. Collectively, these findings suggest a role for PWWP2A/B in regulating transcription through the fine-tuning of histone acetylation dynamics at actively transcribed genes. (PMID:30228260)
- PWWP2A is a complex chromatin-binding protein that serves to direct the deacetylase complex M1HR to H2A.Z-containing chromatin, thereby promoting changes in histone acetylation levels.PWWP2A’s internal region binds H2A.Z nucleosomes and DNA. (PMID:30327463)
- It has been shown that dysregulation of the circular RNA PWWP2A-miR-579 axis is involved in dexamethasone-induced cytotoxicity in human osteoblasts. (PMID:31376935)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pwwp2a | ENSDARG00000075526 |
| danio_rerio | ENSDARG00000114922 | |
| mus_musculus | Pwwp2a | ENSMUSG00000044950 |
| rattus_norvegicus | Pwwp2a | ENSRNOG00000003936 |
Paralogs (4): DNMT3B (ENSG00000088305), DNMT3A (ENSG00000119772), DNMT3L (ENSG00000142182), PWWP2B (ENSG00000171813)
Protein
Protein identifiers
PWWP domain-containing protein 2A — Q96N64 (reviewed: Q96N64)
All UniProt accessions (3): Q96N64, H0YB44, H0YC06
UniProt curated annotations — full annotation on UniProt →
Function. Chromatin-binding protein that acts as an adapter between distinct nucleosome components (H3K36me3 or H2A.Z) and chromatin-modifying complexes, contributing to the regulation of the levels of histone acetylation at actively transcribed genes. Competes with CHD4 and MBD3 for interaction with MTA1 to form a NuRD subcomplex, preventing the formation of full NuRD complex (containing CHD4 and MBD3), leading to recruitment of HDACs to gene promoters resulting in turn in the deacetylation of nearby H3K27 and H2A.Z. Plays a role in facilitating transcriptional elongation and repression of spurious transcription initiation through regulation of histone acetylation. Essential for proper mitosis progression.
Subunit / interactions. Component of a MTA1-specific subcomplex of the NuRD complex (M1HR), composed of PWWP2A, MTA1/2, HDAC1/2, and RBBP4/7 but does not contain CHD4 and MBD3. Interacts with MTA1; the interaction mediates the association of PWWP2A with the M1HR complex. Interacts with H2A.Z/H2AZ1. Interacts (via PWWP domain) with histone H3 trimethylated at ‘Lys-36’ (H3K36me3). Does not interact with CHD4 and MBD3. Interacts with MTA1 and with HDAC1 in a MTA1-dependent manner. Does not interact with CHD4 and MBD3. Interacts with MTA1 and with HDAC1 in a MTA1-dependent manner. Does not interact with CHD4 and MBD3.
Subcellular location. Nucleus.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96N64-1 | 1 | yes |
| Q96N64-2 | 2 | |
| Q96N64-3 | 3 |
RefSeq proteins (6): NP_001124336, NP_001253964, NP_001336662, NP_001336663, NP_001336664, NP_443159 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000313 | PWWP_dom | Domain |
Pfam: PF00855
UniProt features (32 total): compositionally biased region 10, region of interest 7, modified residue 4, splice variant 4, mutagenesis site 3, chain 1, domain 1, cross-link 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96N64-F1 | 58.44 | 0.17 |
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): 81, 102, 116, 119, 208
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 666 | no effect on interaction with h3k36me3. |
| 669 | loss of interaction with h3k36me3. |
| 695 | loss of interaction with h3k36me3. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9937850 | NuRD complex assembly |
MSigDB gene sets: 136 (showing top):
GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GOBP_CHROMATIN_REMODELING, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOMF_CHROMATIN_BINDING, GOMF_HISTONE_BINDING, GOBP_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, KYNG_NORMAL_AGING_DN, KYNG_WERNER_SYNDROM_DN, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOMF_PROTEIN_CONTAINING_COMPLEX_BINDING, ARNT2_TARGET_GENES, ASH1L_TARGET_GENES
GO Biological Process (3): regulation of transcriptional start site selection at RNA polymerase II promoter (GO:0001178), chromatin remodeling (GO:0006338), positive regulation of transcription elongation by RNA polymerase II (GO:0032968)
GO Molecular Function (5): chromatin binding (GO:0003682), histone binding (GO:0042393), NuRD complex binding (GO:0120325), histone H3K36me3 reader activity (GO:0140003), protein binding (GO:0005515)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| CHD3, CHD4, CHD5 subfamily | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| transcriptional start site selection at RNA polymerase II promoter | 1 |
| regulation of transcription, start site selection | 1 |
| regulation of transcription initiation by RNA polymerase II | 1 |
| chromatin organization | 1 |
| transcription elongation by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription, elongation | 1 |
| regulation of transcription elongation by RNA polymerase II | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| protein binding | 1 |
| protein-containing complex binding | 1 |
| histone H3 reader activity | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
610 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PWWP2A | C11orf16 | Q9NQ32 | 678 |
| PWWP2A | H2AZ1 | P0C0S5 | 666 |
| PWWP2A | RBBP4 | P31149 | 585 |
| PWWP2A | ZCCHC8 | Q6NZY4 | 549 |
| PWWP2A | PPFIBP1 | Q86W92 | 522 |
| PWWP2A | C16orf87 | Q6PH81 | 498 |
| PWWP2A | PHF14 | O94880 | 486 |
| PWWP2A | SHTN1 | A0MZ66 | 416 |
| PWWP2A | BAHD1 | Q8TBE0 | 389 |
| PWWP2A | ZNF296 | Q8WUU4 | 386 |
| PWWP2A | CHD3 | Q12873 | 370 |
| PWWP2A | ZNF215 | Q9UL58 | 365 |
| PWWP2A | GATAD2A | Q86YP4 | 353 |
| PWWP2A | HMGXB3 | Q12766 | 345 |
| PWWP2A | G3V325 | G3V325 | 339 |
IntAct
47 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| HDAC1 | PWWP2A | psi-mi:“MI:0403”(colocalization) | 0.830 |
| PWWP2A | HDAC1 | psi-mi:“MI:0915”(physical association) | 0.830 |
| RBBP4 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.790 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| HDAC1 | ZNF609 | psi-mi:“MI:0914”(association) | 0.730 |
| RBBP7 | HAT1 | psi-mi:“MI:0914”(association) | 0.730 |
| P4HA3 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| PWWP2A | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBBP4 | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| RBBP7 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| PWWP2A | COX4I1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PWWP2A | BANF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PWWP2A | H2BC12L | psi-mi:“MI:0915”(physical association) | 0.400 |
| PWWP2A | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Kif20a | TNRC18 | psi-mi:“MI:0914”(association) | 0.350 |
| THOC1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Set | ZKSCAN1 | psi-mi:“MI:0914”(association) | 0.350 |
| Mta1 | MTA3 | psi-mi:“MI:0914”(association) | 0.350 |
| HDAC1 | TRAK1 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCP110 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCP110 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| H1-0 | SMARCA5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (93): PWWP2A (Proximity Label-MS), PWWP2A (Affinity Capture-MS), PWWP2A (Affinity Capture-MS), PWWP2A (Affinity Capture-MS), PWWP2A (Affinity Capture-MS), PWWP2A (Affinity Capture-MS), PWWP2A (Affinity Capture-MS), PWWP2A (Affinity Capture-MS), PWWP2A (Affinity Capture-RNA), PWWP2A (Affinity Capture-MS), PWWP2A (Affinity Capture-MS), PWWP2A (Affinity Capture-MS), PLEKHF2 (Two-hybrid), PWWP2A (Proximity Label-MS), PWWP2A (Proximity Label-MS)
ESM2 similar proteins: A0A1L8GR68, A2CG63, E9Q9M8, F7AQ22, G3V8T1, O75152, O75376, P49140, P51826, P97432, Q13625, Q14596, Q17R98, Q1LY51, Q3TYA6, Q4KKX4, Q4LE39, Q4R6F6, Q501R9, Q505G8, Q5F3Z9, Q5HYC2, Q5RC94, Q5XJV7, Q60974, Q68FE8, Q69Z61, Q6A098, Q6NXK2, Q6NZF1, Q6PJT7, Q6ZNC4, Q86YI8, Q8BFU3, Q8BJ05, Q8CCH7, Q8CG79, Q8CHY6, Q8K2W6, Q8ND24
Diamond homologs: A0A1L8GR68, E9Q9M8, F7AQ22, O88508, Q1LZ53, Q4W5Z4, Q69Z61, Q6NUJ5, Q96N64, Q9FNE4, Q9UBC3, Q9Y6K1, O88509, Q923W4, Q9JMG7, Q9Y3E1, P00476, P09915, P0DOY1, P34906, Q10SU5, Q1LZ50, Q2RBJ4, Q9CWR8, Q9LXE5, Q9M548, Q9UJW3, Q9MA56, A4FUF0, F4K4D6, Q49A26, Q562D5, Q5R7T2, Q5RKH0, Q5RKN4, Q5ZLS7, Q922P9, Q9LK91, Q9LYZ0, Q9SF36
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 50 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 |
|---|---|---|---|
| Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 | 5 | 56.0× | 7e-07 |
| NuRD complex assembly | 10 | 41.5× | 6e-12 |
| ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression | 9 | 40.3× | 6e-11 |
| Interaction of NuRD complexes with transcription factors | 10 | 37.3× | 9e-12 |
| RNA Polymerase I Transcription Initiation | 5 | 32.9× | 8e-06 |
| Deposition of new CENPA-containing nucleosomes at the centromere | 7 | 32.7× | 5e-08 |
| PRC2 methylates histones and DNA | 7 | 31.4× | 6e-08 |
| Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) | 9 | 31.2× | 5e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of stem cell differentiation | 5 | 87.0× | 4e-07 |
| heterochromatin formation | 5 | 29.0× | 5e-05 |
| nucleosome assembly | 7 | 22.3× | 3e-06 |
| chromatin remodeling | 7 | 11.6× | 1e-04 |
| chromatin organization | 5 | 11.3× | 2e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — STAD.
Clinical variants and AI predictions
ClinVar
114 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 98 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 402170 | NM_003314.3(TTC1):c.784T>G (p.Phe262Val) | Likely pathogenic |
SpliceAI
1047 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:160064931:GGTAA:G | acceptor_gain | 1.0000 |
| 5:160065006:G:GT | donor_gain | 1.0000 |
| 5:160094061:CAAAC:C | acceptor_gain | 1.0000 |
| 5:160094063:AAC:A | acceptor_gain | 1.0000 |
| 5:160094064:ACC:A | acceptor_loss | 1.0000 |
| 5:160094065:CCTT:C | acceptor_gain | 1.0000 |
| 5:160094066:C:CC | acceptor_gain | 1.0000 |
| 5:160094067:T:C | acceptor_gain | 1.0000 |
| 5:160094068:T:C | acceptor_gain | 1.0000 |
| 5:160094068:T:TC | acceptor_gain | 1.0000 |
| 5:160094077:A:AC | acceptor_gain | 1.0000 |
| 5:160094077:A:C | acceptor_gain | 1.0000 |
| 5:160108543:A:AC | donor_gain | 1.0000 |
| 5:160108544:C:CC | donor_gain | 1.0000 |
| 5:160108544:CTG:C | donor_gain | 1.0000 |
| 5:160113226:C:CT | donor_gain | 1.0000 |
| 5:160113232:T:A | donor_gain | 1.0000 |
| 5:160117827:A:AC | donor_gain | 1.0000 |
| 5:160117828:C:CC | donor_gain | 1.0000 |
| 5:160117831:ATAAG:A | donor_gain | 1.0000 |
| 5:160118801:GTAC:G | donor_loss | 1.0000 |
| 5:160118802:TAC:T | donor_loss | 1.0000 |
| 5:160118803:ACCT:A | donor_loss | 1.0000 |
| 5:160064926:TTACA:T | acceptor_loss | 0.9900 |
| 5:160064927:TACAG:T | acceptor_loss | 0.9900 |
| 5:160064928:ACAGG:A | acceptor_loss | 0.9900 |
| 5:160064929:CAGG:C | acceptor_loss | 0.9900 |
| 5:160064930:A:AG | acceptor_gain | 0.9900 |
| 5:160064930:A:C | acceptor_loss | 0.9900 |
| 5:160064931:G:C | acceptor_loss | 0.9900 |
AlphaMissense
4920 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:160092444:C:G | A736P | 1.000 |
| 5:160092446:G:T | A735E | 1.000 |
| 5:160092447:C:G | A735P | 1.000 |
| 5:160092458:G:T | A731D | 1.000 |
| 5:160092465:G:T | R729S | 1.000 |
| 5:160092467:T:C | Y728C | 1.000 |
| 5:160092468:A:C | Y728D | 1.000 |
| 5:160092468:A:G | Y728H | 1.000 |
| 5:160092474:C:G | G726R | 1.000 |
| 5:160092478:T:A | R724S | 1.000 |
| 5:160092478:T:G | R724S | 1.000 |
| 5:160092490:A:C | F720L | 1.000 |
| 5:160092490:A:T | F720L | 1.000 |
| 5:160092491:A:G | F720S | 1.000 |
| 5:160092492:A:G | F720L | 1.000 |
| 5:160092502:G:C | F716L | 1.000 |
| 5:160092502:G:T | F716L | 1.000 |
| 5:160092503:A:G | F716S | 1.000 |
| 5:160092504:A:G | F716L | 1.000 |
| 5:160092514:A:C | F712L | 1.000 |
| 5:160092514:A:T | F712L | 1.000 |
| 5:160092515:A:G | F712S | 1.000 |
| 5:160092516:A:G | F712L | 1.000 |
| 5:160092545:G:A | S702F | 1.000 |
| 5:160092562:A:C | F696L | 1.000 |
| 5:160092562:A:T | F696L | 1.000 |
| 5:160092563:A:G | F696S | 1.000 |
| 5:160092564:A:G | F696L | 1.000 |
| 5:160092565:C:A | W695C | 1.000 |
| 5:160092565:C:G | W695C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000020090 (5:160104096 C>G), RS1000057963 (5:160095008 A>C), RS1000077920 (5:160066201 C>A,G,T), RS1000093511 (5:160044196 A>G), RS1000109032 (5:160050858 T>C), RS1000124473 (5:160044643 G>A,T), RS1000149685 (5:160087659 C>A), RS1000212147 (5:160088261 G>A), RS1000304433 (5:160082009 T>C), RS1000357346 (5:160082235 G>A,C), RS1000423761 (5:160116989 G>A), RS1000461035 (5:160046045 A>G), RS1000503008 (5:160089247 A>G), RS1000512100 (5:160047955 T>C), RS1000564017 (5:160087903 T>C,G)
Disease associations
OMIM: gene MIM:617823 | 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
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression | 5 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| TAK-243 | decreases sumoylation | 1 |
| 2-butenal | decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Tretinoin | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | decreases expression, affects cotreatment | 1 |
| Cyclosporine | increases expression | 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.