Fanconi anemia complementation group V

disease

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Also known as Fanconi anaemia caused by mutation in MAD2L2Fanconi anaemia complementation group type VFanconi anemia caused by mutation in MAD2L2Fanconi anemia complementation group type VFanconi Anemia, complementation group type VFanconi Anemia, complementation group VFANCVMAD2L2 Fanconi anaemiaMAD2L2 Fanconi anemia

Summary

Fanconi anemia complementation group V (MONDO:0014985) 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	Fanconi anemia complementation group V
Mondo ID	MONDO:0014985
OMIM	617243
DOID	DOID:0111080
UMLS	C4310652
MedGen	934619
GARD	0016213
Is cancer (heuristic)	no

Also known as: Fanconi anaemia caused by mutation in MAD2L2 · Fanconi anaemia complementation group type V · Fanconi anemia caused by mutation in MAD2L2 · Fanconi anemia complementation group type V · Fanconi Anemia, complementation group type V · Fanconi Anemia, complementation group V · FANCV · MAD2L2 Fanconi anaemia · MAD2L2 Fanconi anemia

Data availability: 1 ClinVar variant · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › congenital anemia › Fanconi anemia › Fanconi anemia complementation group V

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 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
372196	NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu)	MAD2L2	Pathogenic	no assertion criteria provided

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
MAD2L2	Supportive	Autosomal recessive	Fanconi anemia	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MAD2L2	Orphanet:84	Fanconi anemia

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
MAD2L2	HGNC:6764	ENSG00000116670	Q9UI95	Mitotic spindle assembly checkpoint protein MAD2B	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MAD2L2	Mitotic spindle assembly checkpoint protein MAD2B	Adapter protein able to interact with different proteins and involved in different biological processes.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MAD2L2	Other/Unknown	no		HORMA_dom, HORMA_dom_sf, Mad2-like

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
embryo	1
ganglionic eminence	1
left testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MAD2L2	229	ubiquitous	marker	embryo, ganglionic eminence, left testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MAD2L2	2,283

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MAD2L2	Q9UI95	24

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. 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
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template	1	2284.0×	0.001	MAD2L2
DNA Damage Bypass	1	2284.0×	0.001	MAD2L2
Translesion synthesis by REV1	1	713.8×	0.002	MAD2L2
Translesion synthesis by POLI	1	671.8×	0.002	MAD2L2
Translesion synthesis by POLK	1	634.4×	0.002	MAD2L2
DNA Repair	1	98.5×	0.010	MAD2L2

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
DNA damage response, signal transduction resulting in transcription	1	16852.0×	0.001	MAD2L2
somatic diversification of immunoglobulins involved in immune response	1	4213.0×	0.002	MAD2L2
negative regulation of ubiquitin protein ligase activity	1	3370.4×	0.002	MAD2L2
telomere maintenance in response to DNA damage	1	1872.4×	0.002	MAD2L2
error-prone translesion synthesis	1	1532.0×	0.002	MAD2L2
negative regulation of cell-cell adhesion mediated by cadherin	1	1532.0×	0.002	MAD2L2
obsolete negative regulation of transcription by competitive promoter binding	1	1296.3×	0.002	MAD2L2
positive regulation of isotype switching	1	1296.3×	0.002	MAD2L2
positive regulation of double-strand break repair via nonhomologous end joining	1	991.3×	0.002	MAD2L2
translesion synthesis	1	936.2×	0.002	MAD2L2
positive regulation of peptidyl-serine phosphorylation	1	766.0×	0.003	MAD2L2
negative regulation of double-strand break repair via homologous recombination	1	624.1×	0.003	MAD2L2
mitotic spindle assembly checkpoint signaling	1	561.7×	0.003	MAD2L2
negative regulation of epithelial to mesenchymal transition	1	411.0×	0.004	MAD2L2
negative regulation of protein catabolic process	1	366.4×	0.004	MAD2L2
regulation of cell growth	1	221.7×	0.006	MAD2L2
double-strand break repair	1	203.0×	0.007	MAD2L2
actin filament organization	1	118.7×	0.010	MAD2L2
negative regulation of canonical Wnt signaling pathway	1	117.8×	0.010	MAD2L2
DNA repair	1	63.8×	0.018	MAD2L2
cell division	1	46.2×	0.024	MAD2L2
positive regulation of DNA-templated transcription	1	27.9×	0.037	MAD2L2
negative regulation of transcription by RNA polymerase II	1	17.7×	0.056	MAD2L2

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
MAD2L2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
MAD2L2	1	Binding: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

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	0
E	Difficult family or no structure, no drug	1	MAD2L2

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)
MAD2L2	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: MAD2L2