Major affective disorder 7

Summary

Major affective disorder 7 (MONDO:0012881) 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

Field	Value
Canonical name	major affective disorder 7
Mondo ID	MONDO:0012881
MeSH	C567529
OMIM	612371
UMLS	C2700438
MedGen	438008
Is cancer (heuristic)	no

Also known as: MAFD7 · major affective disorder 7 · major affective disorder type 7 · major affective disorder-7, susceptibility to

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › mental disorder › mood disorder › bipolar disorder › major affective disorder 7

Related subtypes (11): bipolar II disorder, bipolar I disorder, major affective disorder 1, major affective disorder 3, major affective disorder 4, major affective disorder 5, major affective disorder 6, major affective disorder 8, major affective disorder 9, manic bipolar affective disorder, bipolar depression

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

ClinVar	Variant (HGVS)	Gene	Classification	Review
811701	NM_001079539.2(XBP1):c.573+1G>T	XBP1	Uncertain significance	criteria provided, single submitter

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

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
XBP1	HGNC:12801	ENSG00000100219	P17861	X-box-binding protein 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
XBP1	X-box-binding protein 1	Functions as a transcription factor during endoplasmic reticulum (ER) stress by regulating the unfolded protein response (UPR).

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
XBP1	Transcription factor	no		bZIP, bZIP_sf, ER_Stress-Reg_TF

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
body of pancreas	1
pancreas	1
trachea	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
XBP1	167	broad	marker	body of pancreas, trachea, pancreas

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
XBP1	3,890

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
XBP1	P17861	5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
ATF6 (ATF6-alpha) activates chaperone genes	1	1142.0×	0.003	XBP1
IRE1alpha activates chaperones	1	519.1×	0.003	XBP1
XBP1(S) activates chaperone genes	1	215.5×	0.005	XBP1

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
epithelial cell maturation involved in salivary gland development	1	16852.0×	0.002	XBP1
positive regulation of lactation	1	8426.0×	0.002	XBP1
negative regulation of endoplasmic reticulum unfolded protein response	1	5617.3×	0.002	XBP1
sterol homeostasis	1	4213.0×	0.002	XBP1
positive regulation of phospholipid biosynthetic process	1	4213.0×	0.002	XBP1
cellular response to fructose stimulus	1	4213.0×	0.002	XBP1
positive regulation of plasma cell differentiation	1	4213.0×	0.002	XBP1
positive regulation of protein acetylation	1	4213.0×	0.002	XBP1
positive regulation of vascular wound healing	1	2808.7×	0.003	XBP1
response to insulin-like growth factor stimulus	1	2808.7×	0.003	XBP1
glandular epithelial cell maturation	1	2407.4×	0.003	XBP1
cellular response to nutrient	1	2106.5×	0.003	XBP1
ATF6-mediated unfolded protein response	1	2106.5×	0.003	XBP1
cellular response to laminar fluid shear stress	1	2106.5×	0.003	XBP1
IRE1-mediated unfolded protein response	1	1872.4×	0.003	XBP1
exocrine pancreas development	1	1685.2×	0.003	XBP1
intracellular triglyceride homeostasis	1	1685.2×	0.003	XBP1
positive regulation of hepatocyte proliferation	1	1685.2×	0.003	XBP1
cellular response to fluid shear stress	1	1296.3×	0.003	XBP1
positive regulation of MHC class II biosynthetic process	1	1203.7×	0.003	XBP1
negative regulation of myotube differentiation	1	1123.5×	0.003	XBP1
positive regulation of B cell differentiation	1	1123.5×	0.003	XBP1
positive regulation of vascular associated smooth muscle cell migration	1	991.3×	0.004	XBP1
fatty acid homeostasis	1	936.2×	0.004	XBP1
positive regulation of ERAD pathway	1	887.0×	0.004	XBP1
cellular response to peptide hormone stimulus	1	842.6×	0.004	XBP1
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	1	842.6×	0.004	XBP1
positive regulation of endothelial cell apoptotic process	1	732.7×	0.004	XBP1
cellular response to interleukin-4	1	648.1×	0.004	XBP1
negative regulation of SMAD protein signal transduction	1	601.9×	0.005	XBP1

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.

Symbol	Example approved molecule
XBP1	TERFENADINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
XBP1	4	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
TERFENADINE	4	XBP1
DITHIAZANINE IODIDE	4	XBP1
FLUSPIRILENE	4	XBP1
CALCIMYCIN	2	XBP1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
XBP1	7	Binding:6, Functional:1

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

4 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.

Compound	Max phase	Cohort target (bioactivity)
TERFENADINE	4	XBP1
DITHIAZANINE IODIDE	4	XBP1
FLUSPIRILENE	4	XBP1
CALCIMYCIN	2	XBP1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	XBP1
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

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.