POMP
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Also known as HSPC014UMP1
Summary
POMP (proteasome maturation protein, HGNC:20330) is a protein-coding gene on chromosome 13q12.3, encoding Proteasome maturation protein (Q9Y244). Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes.
The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5’ UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.
Source: NCBI Gene 51371 — RefSeq curated summary.
At a glance
- Gene–disease (curated): keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 158 total — 4 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_015932
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20330 |
| Approved symbol | POMP |
| Name | proteasome maturation protein |
| Location | 13q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC014, UMP1 |
| Ensembl gene | ENSG00000132963 |
| Ensembl biotype | protein_coding |
| OMIM | 613386 |
| Entrez | 51371 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 13 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000380842, ENST00000460403, ENST00000697661, ENST00000697662, ENST00000697663, ENST00000697716, ENST00000697717, ENST00000697718, ENST00000697719, ENST00000697720, ENST00000697721, ENST00000697722, ENST00000883661, ENST00000883662, ENST00000928922
RefSeq mRNA: 1 — MANE Select: NM_015932
NM_015932
CCDS: CCDS9331
Canonical transcript exons
ENST00000380842 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003577317 | 28662410 | 28662507 |
| ENSE00003676638 | 28672339 | 28672432 |
| ENSE00003971501 | 28678035 | 28678959 |
| ENSE00003971504 | 28664509 | 28664569 |
| ENSE00003971506 | 28659130 | 28659187 |
| ENSE00003971510 | 28668473 | 28668574 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.43.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 137.7309 / max 3368.2890, expressed in 1826 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 134581 | 137.7309 | 1826 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 99.43 | gold quality |
| biceps brachii | UBERON:0001507 | 98.94 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.90 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.86 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.76 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.72 | gold quality |
| oral cavity | UBERON:0000167 | 98.68 | gold quality |
| adult organism | UBERON:0007023 | 98.67 | gold quality |
| male germ cell | CL:0000015 | 98.63 | gold quality |
| sperm | CL:0000019 | 98.60 | gold quality |
| upper leg skin | UBERON:0004262 | 98.57 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.57 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.57 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.56 | gold quality |
| diaphragm | UBERON:0001103 | 98.54 | gold quality |
| skin of hip | UBERON:0001554 | 98.53 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.48 | gold quality |
| decidua | UBERON:0002450 | 98.47 | gold quality |
| medial globus pallidus | UBERON:0002477 | 98.45 | gold quality |
| triceps brachii | UBERON:0001509 | 98.41 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.41 | gold quality |
| caput epididymis | UBERON:0004358 | 98.37 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.35 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.31 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.29 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.27 | gold quality |
| body of tongue | UBERON:0011876 | 98.27 | gold quality |
| globus pallidus | UBERON:0001875 | 98.24 | gold quality |
| pericardium | UBERON:0002407 | 98.24 | gold quality |
| type B pancreatic cell | CL:0000169 | 98.19 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 126.97 |
| E-CURD-46 | yes | 20.16 |
| E-MTAB-5061 | yes | 5.87 |
| E-MTAB-6819 | no | 1714.58 |
| E-MTAB-8271 | no | 1408.89 |
| E-MTAB-8559 | no | 1338.29 |
| E-MTAB-10596 | no | 1205.78 |
| E-MTAB-7052 | no | 623.79 |
| E-MTAB-6911 | no | 556.36 |
| E-HCAD-30 | no | 243.58 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting POMP, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-3659 | 99.70 | 67.97 | 694 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
Literature-anchored findings (GeneRIF, showing 13)
- POMP/proteassemblin/hUmp1 may be tetramerised and is localized to the cytoplasm and the nucleus (PMID:16624403)
- Data show that POMP facilitates the main steps in 20S core complex formation at the ER to coordinate the assembly process and to provide cells with freshly formed proteasomes at their site of function. (PMID:17948026)
- A single-nucleotide deletion in the POMP 5’ UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. (PMID:20226437)
- KLICK is caused by reduced levels of POMP, leading to proteasome insufficiency in differentiating keratinocytes (PMID:22235297)
- Single-nucleotide polymorphisms in POMP gene is associated with breast cancer risk after menopausal hormone replacement therapy. (PMID:24080446)
- microRNA-101 (miR-101) targets the proteasome maturation protein POMP, leading to impaired proteasome assembly and activity, and resulting in accumulation of p53 and cyclin-dependent kinase inhibitors, cell cycle arrest, and apoptosis. (PMID:26145175)
- studies validate a role for the NRF2/POMP axis in bortezomib resistance and identify NRF2 and POMP as potentially attractive targets for chemosensitization to this proteasome inhibitor (PMID:26483548)
- MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child (PMID:26615982)
- POMP is overexpressed and participates in the increase of proteasome assembly and activity in psoriatic skin. (PMID:28728908)
- POMP-related autoinflammation and immune dysregulation disease (PRAID) discovered in two unrelated individuals with a unique constellation of early-onset combined immunodeficiency, inflammatory neutrophilic dermatosis, and autoimmunity, is reported. (PMID:29805043)
- The A alleles of SEMA6A and POMP genes are likely the risk factors of disease development in Georgians. (PMID:31687947)
- NRF3-POMP-20S Proteasome Assembly Axis Promotes Cancer Development via Ubiquitin-Independent Proteolysis of p53 and Retinoblastoma Protein. (PMID:32123008)
- KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. (PMID:32425927)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pomp | ENSDARG00000032296 |
| mus_musculus | Pomp | ENSMUSG00000029649 |
| rattus_norvegicus | Pomp | ENSRNOG00000049229 |
| drosophila_melanogaster | Pomp | FBGN0032884 |
Protein
Protein identifiers
Proteasome maturation protein — Q9Y244 (reviewed: Q9Y244)
Alternative names: Proteassemblin, Protein UMP1 homolog, Voltage-gated K channel beta subunit 4.1
All UniProt accessions (4): A0A1W2PS02, A0A8V8TLM3, A0A8V8TMM8, Q9Y244
UniProt curated annotations — full annotation on UniProt →
Function. Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum.
Subunit / interactions. Constituent of preproteasomes, but not of mature 20S proteasomes. Within the preproteasome, may directly interact with PSMB1/beta6, PSMB4/beta7, PSMB5/beta5, PSMB6/beta1 and PSMB9/beta1i. Interaction with PSMB8/beta5i has been observed in PubMed:10973495, but not in PubMed:10926487. Forms tetramers.
Subcellular location. Cytoplasm. Cytosol. Nucleus. Microsome membrane.
Tissue specificity. Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer.
Disease relevance. Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) [MIM:601952] A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer. The disease is caused by variants affecting the gene represented in this entry. Proteasome-associated autoinflammatory syndrome 2 (PRAAS2) [MIM:618048] An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency. The disease is caused by variants affecting the gene represented in this entry.
Induction. By IFNG/IFN-gamma.
Similarity. Belongs to the POMP/UMP1 family.
RefSeq proteins (1): NP_057016* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008012 | Ump1 | Family |
Pfam: PF05348
UniProt features (15 total): helix 7, strand 3, turn 2, chain 1, short sequence motif 1, cross-link 1
Structure
Experimental structures (PDB)
11 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8QYL | ELECTRON MICROSCOPY | 2.67 |
| 8QYJ | ELECTRON MICROSCOPY | 2.73 |
| 8QYM | ELECTRON MICROSCOPY | 2.73 |
| 8TM6 | ELECTRON MICROSCOPY | 2.8 |
| 8QYN | ELECTRON MICROSCOPY | 2.88 |
| 8YIX | ELECTRON MICROSCOPY | 2.91 |
| 8QZ9 | ELECTRON MICROSCOPY | 2.95 |
| 8TM4 | ELECTRON MICROSCOPY | 3 |
| 8TM5 | ELECTRON MICROSCOPY | 3 |
| 8YIY | ELECTRON MICROSCOPY | 3.41 |
| 8QYS | ELECTRON MICROSCOPY | 3.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y244-F1 | 81.76 | 0.43 |
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): 39
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9907900 | Proteasome assembly |
MSigDB gene sets: 282 (showing top):
KEGG_PROTEASOME, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_PROTEASOME_ASSEMBLY, ONKEN_UVEAL_MELANOMA_UP, GGAANCGGAANY_UNKNOWN, GNF2_XRCC5, ELK1_01, P300_01, NRF2_01, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GRADE_COLON_AND_RECTAL_CANCER_UP, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY
GO Biological Process (1): proteasome assembly (GO:0043248)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear speck (GO:0016607), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| protein-containing complex assembly | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| nuclear ribonucleoprotein granule | 1 |
| endomembrane system | 1 |
Protein interactions and networks
STRING
1298 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POMP | PSMB8 | P28062 | 901 |
| POMP | PSMA3 | P25788 | 882 |
| POMP | PSMB9 | P28065 | 876 |
| POMP | PSMB1 | P20618 | 869 |
| POMP | PSMA1 | P25786 | 867 |
| POMP | PSMA4 | P25789 | 861 |
| POMP | PSMG1 | O95456 | 849 |
| POMP | PSMG3 | Q9BT73 | 788 |
| POMP | PSMG4 | Q5JS54 | 787 |
| POMP | PSMA7 | O14818 | 766 |
| POMP | ECPAS | Q5VYK3 | 726 |
| POMP | PSME4 | Q14997 | 722 |
| POMP | PSMB4 | P28070 | 718 |
| POMP | PSMG2 | Q969U7 | 717 |
| POMP | PSMB5 | P28074 | 710 |
IntAct
141 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMA1 | PSMA7 | psi-mi:“MI:0914”(association) | 0.950 |
| PSMA1 | PSMA7 | psi-mi:“MI:2364”(proximity) | 0.950 |
| PSMA7 | PSMA1 | psi-mi:“MI:0914”(association) | 0.950 |
| POMP | PSMB7 | psi-mi:“MI:0915”(physical association) | 0.910 |
| PSMB7 | POMP | psi-mi:“MI:0915”(physical association) | 0.910 |
| POMP | PSMB3 | psi-mi:“MI:0915”(physical association) | 0.860 |
| POMP | PSMB1 | psi-mi:“MI:0915”(physical association) | 0.860 |
| PSMB3 | POMP | psi-mi:“MI:0915”(physical association) | 0.860 |
| PSMA2 | PSMA7 | psi-mi:“MI:0914”(association) | 0.850 |
| PSMG2 | PSMG1 | psi-mi:“MI:0914”(association) | 0.850 |
| PSMA6 | PSMA7 | psi-mi:“MI:0914”(association) | 0.850 |
| POMP | PSMB2 | psi-mi:“MI:0915”(physical association) | 0.810 |
| PSMA5 | PSMA7 | psi-mi:“MI:0914”(association) | 0.800 |
| PSMB7 | PSMA7 | psi-mi:“MI:0914”(association) | 0.790 |
| PSMB2 | PSMA7 | psi-mi:“MI:0914”(association) | 0.790 |
| PSMB3 | PSMA7 | psi-mi:“MI:0914”(association) | 0.770 |
| PSMB5 | POMP | psi-mi:“MI:0915”(physical association) | 0.760 |
| PSMB6 | POMP | psi-mi:“MI:0915”(physical association) | 0.760 |
| POMP | PSMB6 | psi-mi:“MI:0915”(physical association) | 0.760 |
| POMP | PSMB4 | psi-mi:“MI:0915”(physical association) | 0.750 |
BioGRID (157): POMP (Affinity Capture-MS), POMP (Affinity Capture-MS), POMP (Affinity Capture-MS), POMP (Affinity Capture-MS), POMP (Affinity Capture-MS), POMP (Affinity Capture-MS), POMP (Affinity Capture-MS), POMP (Co-fractionation), PSMA4 (Co-fractionation), PSMA5 (Co-fractionation), PSMB7 (Co-fractionation), PSMC2 (Co-fractionation), PSMC3 (Co-fractionation), PSMD2 (Co-fractionation), POMP (Affinity Capture-MS)
ESM2 similar proteins: A0A0G3VTN5, A0A0P0XBU0, A0A2K1L2D9, A2X0Q6, A3A2Z8, A9XMT4, B8YIE8, B9F1C0, C7IW64, F4I096, F4J7T2, F4J7T3, F4JTS8, F4K1J4, O65685, P0C1C7, P0C945, P0CB21, P92973, Q2LAE1, Q53HY2, Q5E9A0, Q5R9L9, Q5Z8V7, Q657D6, Q689G6, Q6IRT3, Q703I1, Q766Z3, Q86XD8, Q8LFU0, Q8S9L0, Q93WK5, Q94FL9, Q94JW8, Q9CAA9, Q9CQT5, Q9FRG8, Q9FZK0, Q9LE42
Diamond homologs: Q0DWQ7, Q3SZV5, Q5R9L9, Q9CQT5, Q9Y244
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 71 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 |
|---|---|---|---|
| Antigen processing: Ub, ATP-independent proteasomal degradation | 16 | 179.1× | 4e-34 |
| Regulation of activated PAK-2p34 by proteasome mediated degradation | 19 | 103.8× | 4e-34 |
| Proteasome assembly | 25 | 100.0× | 4e-44 |
| Cross-presentation of soluble exogenous antigens (endosomes) | 20 | 99.5× | 8e-35 |
| Vpu mediated degradation of CD4 | 19 | 98.9× | 1e-33 |
| Autodegradation of the E3 ubiquitin ligase COP1 | 19 | 98.9× | 1e-33 |
| Ubiquitin-dependent degradation of Cyclin D | 19 | 98.9× | 1e-33 |
| AUF1 (hnRNP D0) binds and destabilizes mRNA | 20 | 97.4× | 8e-35 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 23 | 21.4× | 8e-23 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
158 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 1 |
| Uncertain significance | 77 |
| Likely benign | 57 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 116 | NC_000013.11:g.28659090del | Pathogenic |
| 522801 | NM_015932.6(POMP):c.334_335del (p.Ile112fs) | Pathogenic |
| 548959 | NM_015932.6(POMP):c.340_344dup (p.Glu115fs) | Pathogenic |
| 548960 | NM_015932.6(POMP):c.342_348delinsACC (p.Phe114fs) | Pathogenic |
| 546726 | NM_015932.6(POMP):c.326dup (p.Asp109fs) | Likely pathogenic |
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
925 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:28668524:G:C | G72R | 0.990 |
| 13:28668563:G:C | A85P | 0.985 |
| 13:28668525:G:T | G72V | 0.982 |
| 13:28668510:T:C | L67P | 0.981 |
| 13:28668534:C:A | A75D | 0.981 |
| 13:28664550:T:A | L48H | 0.979 |
| 13:28668540:T:C | L77P | 0.979 |
| 13:28668525:G:A | G72D | 0.978 |
| 13:28664550:T:C | L48P | 0.975 |
| 13:28668554:G:A | E82K | 0.970 |
| 13:28672427:T:C | L118P | 0.969 |
| 13:28668549:A:C | Q80P | 0.967 |
| 13:28664545:T:A | H46Q | 0.966 |
| 13:28664545:T:G | H46Q | 0.966 |
| 13:28668524:G:T | G72C | 0.966 |
| 13:28672354:T:C | F94L | 0.966 |
| 13:28672356:T:A | F94L | 0.966 |
| 13:28672356:T:G | F94L | 0.966 |
| 13:28672414:T:C | F114L | 0.965 |
| 13:28672416:T:A | F114L | 0.965 |
| 13:28672416:T:G | F114L | 0.965 |
| 13:28672388:T:C | L105S | 0.963 |
| 13:28678080:A:T | E135V | 0.960 |
| 13:28668544:A:C | K78N | 0.957 |
| 13:28668544:A:T | K78N | 0.957 |
| 13:28672385:T:A | V104D | 0.957 |
| 13:28672394:G:T | G107V | 0.956 |
| 13:28664544:A:G | H46R | 0.955 |
| 13:28668525:G:C | G72A | 0.953 |
| 13:28668522:A:C | Q71P | 0.952 |
dbSNP variants (sampled 300 via entrez): RS1000043810 (13:28676907 G>A), RS1000417646 (13:28658975 A>C), RS1000640320 (13:28678479 A>G), RS1000821114 (13:28672627 G>A), RS1000896658 (13:28673966 T>G), RS1000994170 (13:28678768 G>A,T), RS1001107754 (13:28672297 T>G), RS1001180573 (13:28662222 A>G), RS1001488698 (13:28671821 A>G), RS1001489626 (13:28659501 G>A,C), RS1001519989 (13:28671520 C>T), RS1001611240 (13:28674717 G>A), RS1001666273 (13:28667874 G>T), RS1001717206 (13:28667705 C>T), RS1001998439 (13:28666843 C>G,T)
Disease associations
OMIM: gene MIM:613386 | disease phenotypes: MIM:601952, MIM:618048
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | Strong | Autosomal recessive |
| proteasome-associated autoinflammatory syndrome 2 | Strong | Autosomal dominant |
Mondo (2): keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (MONDO:0011169), proteasome-associated autoinflammatory syndrome 2 (MONDO:0054700)
Orphanet (1): Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (Orphanet:281201)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C566600 | Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (supp.) |
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 |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 6 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| lead acetate | affects cotreatment, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| cupric chloride | increases expression | 1 |
| perfluorodecanoic acid | increases expression | 1 |
| chloropicrin | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, proteasome-associated autoinflammatory syndrome 2
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, proteasome-associated autoinflammatory syndrome 2