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Atlas / Disease / Type 1 diabetes mellitus 22

Type 1 diabetes mellitus 22

disease
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Also known as CCR5 type 1 diabetes mellitusdiabetes mellitus, insulin-dependent, 22diabetes mellitus, insulin-dependent, type 22IDDM22type 1 diabetes mellitus caused by mutation in CCR5

Summary

Type 1 diabetes mellitus 22 (MONDO:0012921) is a disease with 1 cohort gene.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nametype 1 diabetes mellitus 22
Mondo IDMONDO:0012921
MeSHC567284
OMIM612522
DOIDDOID:0110759
UMLSC2675864
MedGen390900
Is cancer (heuristic)no

Also known as: CCR5 type 1 diabetes mellitus · diabetes mellitus, insulin-dependent, 22 · diabetes mellitus, insulin-dependent, type 22 · IDDM22 · type 1 diabetes mellitus caused by mutation in CCR5

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › diabetes mellitus, insulin-dependent, X-linked, susceptibility to › type 1 diabetes mellitus 22

Related subtypes (20): type 1 diabetes mellitus 2, type 1 diabetes mellitus 1, type 1 diabetes mellitus 3, type 1 diabetes mellitus 4, type 1 diabetes mellitus 5, type 1 diabetes mellitus 7, type 1 diabetes mellitus 8, type 1 diabetes mellitus 11, type 1 diabetes mellitus 13, type 1 diabetes mellitus 12, type 1 diabetes mellitus 15, type 1 diabetes mellitus 6, type 1 diabetes mellitus 10, type 1 diabetes mellitus 17, type 1 diabetes mellitus 18, type 1 diabetes mellitus 19, type 1 diabetes mellitus 20, type 1 diabetes mellitus 21, type 1 diabetes mellitus 23, type 1 diabetes mellitus 24

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

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVarVariant (HGVS)GeneClassificationReview
992556NM_001394783.1(CCR5):c.187A>T (p.Ser63Cys)CCR5Uncertain significancecriteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
CCR5HGNC:1606ENSG00000160791P51681C-C chemokine receptor type 5clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
CCR5C-C chemokine receptor type 5Receptor for a number of inflammatory CC-chemokines including CCL3/MIP-1-alpha, CCL4/MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level.

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.

FamilyGenesFoldFDR
GPCR123.9×0.042

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
CCR5GPCRyesGPCR_Rhodpsn, Chemokine_rcpt, Chemokine_CCR5

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)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
epithelium of nasopharynx1
olfactory bulb1
type B pancreatic cell1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
CCR5194broadmarkertype B pancreatic cell, olfactory bulb, epithelium of nasopharynx

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CCR53,406

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
CCR5P5168126

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 19. 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.

PathwayCohort genesFoldFDRSample cohort genes
Binding and entry of HIV virion12855.0×0.006CCR5
Early Phase of HIV Life Cycle11631.4×0.006CCR5
Interleukin-10 signaling1233.1×0.024CCR5
Chemokine receptors bind chemokines1187.2×0.024CCR5
HIV Life Cycle1160.8×0.024CCR5
HIV Infection1119.0×0.027CCR5
Class A/1 (Rhodopsin-like receptors)174.2×0.030CCR5
Peptide ligand-binding receptors174.2×0.030CCR5
Signaling by Interleukins164.2×0.030CCR5
GPCR ligand binding164.2×0.030CCR5
GPCR downstream signalling143.4×0.035CCR5
Cytokine Signaling in Immune system140.8×0.035CCR5
Signaling by GPCR140.1×0.035CCR5
G alpha (i) signalling events139.0×0.035CCR5
Viral Infection Pathways130.8×0.041CCR5
Infectious disease124.8×0.048CCR5
Disease113.1×0.081CCR5
Immune System113.0×0.081CCR5
Signal Transduction110.2×0.098CCR5

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 termCohort genesFoldFDRSample cohort genes
negative regulation of macrophage apoptotic process12808.7×0.003CCR5
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum11685.2×0.003CCR5
response to cholesterol11685.2×0.003CCR5
signaling11532.0×0.003CCR5
dendritic cell chemotaxis1991.3×0.004CCR5
cellular defense response1318.0×0.010CCR5
cell chemotaxis1185.2×0.012CCR5
calcium-mediated signaling1183.2×0.012CCR5
calcium ion transport1181.2×0.012CCR5
MAPK cascade1153.2×0.012CCR5
chemotaxis1135.9×0.013CCR5
positive regulation of cytosolic calcium ion concentration1117.0×0.014CCR5
cellular response to lipopolysaccharide198.0×0.015CCR5
cell-cell signaling169.6×0.019CCR5
cell surface receptor signaling pathway164.1×0.020CCR5
immune response147.1×0.025CCR5
inflammatory response137.7×0.029CCR5
G protein-coupled receptor signaling pathway136.2×0.029CCR5
apoptotic process128.7×0.035CCR5

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
CCR5TERFENADINE

Top cohort targets by molecule count

SymbolMoleculesMax phase
CCR5154

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
TERFENADINE4CCR5
ABAMETAPIR4CCR5
MARAVIROC4CCR5
DISULFIRAM4CCR5
APLAVIROC3CCR5
APLAVIROC HYDROCHLORIDE3CCR5
CENICRIVIROC3CCR5
VICRIVIROC3CCR5
INCB-94712CCR5
AZD56722CCR5
JNJ-17166864 CATION2CCR5
BMS-7416722CCR5
BMS-8131602CCR5
ANCRIVIROC2CCR5
CENICRIVIROC MESYLATE1CCR5

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
CCR5409Binding:243, Functional:166

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
CCR5409

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

15 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.

CompoundMax phaseCohort target (bioactivity)
TERFENADINE4CCR5
ABAMETAPIR4CCR5
MARAVIROC4CCR5
DISULFIRAM4CCR5
APLAVIROC3CCR5
APLAVIROC HYDROCHLORIDE3CCR5
CENICRIVIROC3CCR5
VICRIVIROC3CCR5
INCB-94712CCR5
AZD56722CCR5
JNJ-17166864 CATION2CCR5
BMS-7416722CCR5
BMS-8131602CCR5
ANCRIVIROC2CCR5
CENICRIVIROC MESYLATE1CCR5

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1CCR5
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 68

This page pulls from 68 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot