Braddock-carey syndrome 2

Summary

Braddock-carey syndrome 2 (MONDO:0859570) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	braddock-carey syndrome 2
Mondo ID	MONDO:0859570
OMIM	619981
UMLS	C5774189
MedGen	1823962
Is cancer (heuristic)	no

Data availability: 4 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › Braddock-Carey syndrome › braddock-carey syndrome 2

Related subtypes (1): Braddock-Carey syndrome 1

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

4 retrieved; paginated sample, class counts are floors:

2 likely pathogenic, 1 pathogenic, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1698455	NM_020242.3(KIF15):c.1501C>T (p.Arg501Ter)	KIF15	Pathogenic	no assertion criteria provided
3065669	NM_020242.3(KIF15):c.1830-2A>C	KIF15	Likely pathogenic	criteria provided, single submitter
4849463	NM_020242.3(KIF15):c.2410C>T (p.Arg804Ter)	KIF15	Likely pathogenic	criteria provided, single submitter
3341372	NM_020242.3(KIF15):c.1654T>C (p.Ser552Pro)	KIF15	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
KIF15	Limited	Unknown	braddock-carey syndrome 2	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
KIF15	Orphanet:261323	21q22.11q22.12 microdeletion syndrome

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
KIF15	HGNC:17273	ENSG00000163808	Q9NS87	Kinesin-like protein KIF15	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KIF15	Kinesin-like protein KIF15	Plus-end directed kinesin-like motor enzyme involved in mitotic spindle assembly.

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)
KIF15	Other/Unknown	no		Kinesin_motor_dom, P-loop_NTPase, HMMR_C

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
ganglionic eminence	1
left testis	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KIF15	133	ubiquitous	marker	ventricular zone, ganglionic eminence, left testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KIF15	2,063

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KIF15	Q9NS87	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 11. 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
Kinesins	1	178.4×	0.025	KIF15
Golgi-to-ER retrograde transport	1	132.8×	0.025	KIF15
COPI-dependent Golgi-to-ER retrograde traffic	1	110.9×	0.025	KIF15
Intra-Golgi and retrograde Golgi-to-ER traffic	1	104.8×	0.025	KIF15
MHC class II antigen presentation	1	89.2×	0.025	KIF15
Factors involved in megakaryocyte development and platelet production	1	66.4×	0.028	KIF15
Membrane Trafficking	1	37.1×	0.035	KIF15
Hemostasis	1	36.0×	0.035	KIF15
Vesicle-mediated transport	1	34.8×	0.035	KIF15
Adaptive Immune System	1	29.8×	0.037	KIF15
Immune System	1	13.0×	0.077	KIF15

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
centrosome separation	1	5617.3×	7e-04	KIF15
mitotic spindle assembly	1	343.9×	0.005	KIF15
microtubule-based movement	1	295.6×	0.005	KIF15
mitotic cell cycle	1	133.8×	0.007	KIF15

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
KIF15	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
KIF15	20	Binding:20

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	KIF15

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)
KIF15	20	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.