Porokeratosis 8, disseminated superficial actinic type
diseaseOn this page
Also known as POROK8
Summary
Porokeratosis 8, disseminated superficial actinic type (MONDO:0014479) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 5
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | porokeratosis 8, disseminated superficial actinic type |
| Mondo ID | MONDO:0014479 |
| OMIM | 616063 |
| UMLS | C4015128 |
| MedGen | 863565 |
| GARD | 0016056 |
| Is cancer (heuristic) | no |
Also known as: POROK8 · porokeratosis 8, disseminated superficial actinic type
Data availability: 5 ClinVar variants · 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › keratosis › porokeratosis › disseminated superficial actinic porokeratosis › porokeratosis 8, disseminated superficial actinic type
Related subtypes (6): porokeratosis 3, disseminated superficial actinic type, porokeratosis 4, disseminated superficial actinic type, porokeratosis 5, disseminated superficial actinic type, porokeratosis 6, disseminated superficial actinic type, porokeratosis 7, multiple types, porokeratosis 9, multiple types
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
5 retrieved; paginated sample, class counts are floors:
4 uncertain significance, 1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 156578 | NM_022082.4(SLC17A9):c.932G>A (p.Arg311Gln) | SLC17A9 | Pathogenic | no assertion criteria provided |
| 1031327 | NM_022082.4(SLC17A9):c.1012T>C (p.Ser338Pro) | SLC17A9 | Uncertain significance | criteria provided, single submitter |
| 156579 | NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys) | SLC17A9 | Uncertain significance | criteria provided, single submitter |
| 3892448 | NM_022082.4(SLC17A9):c.121C>T (p.Arg41Cys) | SLC17A9 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 587582 | NM_022082.4(SLC17A9):c.931C>T (p.Arg311Trp) | SLC17A9 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 2 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| SLC17A9 | Supportive | Autosomal dominant | disseminated superficial actinic porokeratosis | 2 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SLC17A9 | Orphanet:79152 | Disseminated superficial actinic porokeratosis |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| SLC17A9 | HGNC:16192 | ENSG00000101194 | Q9BYT1 | Voltage-gated purine nucleotide uniporter SLC17A9 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SLC17A9 | Voltage-gated purine nucleotide uniporter SLC17A9 | Voltage-gated ATP nucleotide uniporter that can also transport the purine nucleotides ADP and GTP. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Transporter | 1 | 77.8× | 0.013 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SLC17A9 | Transporter | yes | Sugar_transporter_CS, MFS, MFS_dom |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| liver | 1 |
| right lobe of liver | 1 |
| stromal cell of endometrium | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SLC17A9 | 194 | ubiquitous | marker | right lobe of liver, liver, stromal cell of endometrium |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| SLC17A9 | 912 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| SLC17A9 | Q9BYT1 | 89.46 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| purine nucleotide import into lysosome | 1 | 16852.0× | 2e-04 | SLC17A9 |
| guanine nucleotide transmembrane transport | 1 | 16852.0× | 2e-04 | SLC17A9 |
| ADP transport | 1 | 2106.5× | 9e-04 | SLC17A9 |
| ATP export | 1 | 1685.2× | 9e-04 | SLC17A9 |
| ATP transport | 1 | 1404.3× | 9e-04 | SLC17A9 |
| lysosomal protein catabolic process | 1 | 1053.2× | 9e-04 | SLC17A9 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| SLC17A9 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 1 | SLC17A9 |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| SLC17A9 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: SLC17A9