Amyloidosis, primary localized cutaneous, 2
diseaseOn this page
Also known as amyloidosis, primary localised cutaneous, type 2amyloidosis, primary localized cutaneous, type 2PLCA2
Summary
Amyloidosis, primary localized cutaneous, 2 (MONDO:0013502) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 8
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | amyloidosis, primary localized cutaneous, 2 |
| Mondo ID | MONDO:0013502 |
| OMIM | 613955 |
| DOID | DOID:0080931 |
| UMLS | C3151404 |
| MedGen | 462754 |
| GARD | 0018638 |
| Is cancer (heuristic) | no |
Also known as: amyloidosis, primary localised cutaneous, type 2 · amyloidosis, primary localized cutaneous, 2 · amyloidosis, primary localized cutaneous, type 2 · PLCA2
Data availability: 8 ClinVar variants · 3 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › proteostasis deficiencies › amyloidosis › primary cutaneous amyloidosis › familial primary localized cutaneous amyloidosis › amyloidosis, primary localized cutaneous, 2
Related subtypes (2): amyloidosis, primary localized cutaneous, 1, amyloidosis, primary localized cutaneous, 3
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
8 retrieved; paginated sample, class counts are floors:
4 benign, 3 uncertain significance, 1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 30790 | NM_139017.7(IL31RA):c.1562C>T (p.Ser521Phe) | IL31RA | Pathogenic | no assertion criteria provided |
| 2378759 | NM_139017.7(IL31RA):c.1327T>A (p.Ser443Thr) | IL31RA | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2509555 | NM_139017.7(IL31RA):c.2143G>A (p.Ala715Thr) | IL31RA | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3779766 | NM_139017.7(IL31RA):c.1070-3C>G | IL31RA | Uncertain significance | criteria provided, single submitter |
| 1098854 | NM_139017.7(IL31RA):c.1449T>G (p.Gly483=) | IL31RA | Benign | criteria provided, multiple submitters, no conflicts |
| 1300053 | NM_139017.7(IL31RA):c.129C>T (p.Pro43=) | IL31RA | Benign | criteria provided, multiple submitters, no conflicts |
| 1300054 | NM_139017.7(IL31RA):c.606+29A>T | IL31RA | Benign | criteria provided, multiple submitters, no conflicts |
| 1300055 | NM_139017.7(IL31RA):c.1819-26T>G | IL31RA | Benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 4 · 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 |
|---|---|---|---|---|
| IL31RA | Supportive | Autosomal dominant | familial primary localized cutaneous amyloidosis | 4 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| IL31RA | Orphanet:353220 | Familial primary localized cutaneous amyloidosis |
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 |
|---|---|---|---|---|---|
| IL31RA | HGNC:18969 | ENSG00000164509 | Q8NI17 | Interleukin-31 receptor subunit alpha | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| IL31RA | Interleukin-31 receptor subunit alpha | Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5. |
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 |
|---|---|---|---|
| Antibody/Immunoglobulin | 1 | 29.2× | 0.034 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| IL31RA | Antibody/Immunoglobulin | yes | FN3_dom, Ig-like_fold, TypeI_recpt_CBD |
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 |
|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| monocyte | 1 |
| primordial germ cell in gonad | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| IL31RA | 129 | broad | marker | male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, monocyte |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| IL31RA | 2,789 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| IL31RA | Q8NI17 | 1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways 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.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| IL-6-type cytokine receptor ligand interactions | 1 | 634.4× | 0.002 | IL31RA |
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 |
|---|---|---|---|---|
| defense response to other organism | 1 | 16852.0× | 9e-04 | IL31RA |
| acute inflammatory response to antigenic stimulus | 1 | 2808.7× | 0.002 | IL31RA |
| glandular epithelial cell differentiation | 1 | 2106.5× | 0.002 | IL31RA |
| homeostatic process | 1 | 1685.2× | 0.002 | IL31RA |
| negative regulation of macrophage activation | 1 | 1685.2× | 0.002 | IL31RA |
| monocyte differentiation | 1 | 802.5× | 0.003 | IL31RA |
| positive regulation of tyrosine phosphorylation of STAT protein | 1 | 732.7× | 0.003 | IL31RA |
| macrophage differentiation | 1 | 468.1× | 0.004 | IL31RA |
| cell surface receptor signaling pathway via JAK-STAT | 1 | 290.6× | 0.006 | IL31RA |
| defense response | 1 | 216.1× | 0.007 | IL31RA |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 | 173.7× | 0.008 | IL31RA |
| MAPK cascade | 1 | 153.2× | 0.009 | IL31RA |
| cytokine-mediated signaling pathway | 1 | 130.6× | 0.009 | IL31RA |
| negative regulation of apoptotic process | 1 | 34.8× | 0.032 | IL31RA |
| positive regulation of cell population proliferation | 1 | 33.6× | 0.032 | IL31RA |
| positive regulation of DNA-templated transcription | 1 | 27.9× | 0.036 | IL31RA |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| IL31RA | 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 | 1 | IL31RA |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| 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) |
|---|---|---|
| IL31RA | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: IL31RA