SPIRE2

Summary

SPIRE2 (spire type actin nucleation factor 2, HGNC:30623) is a protein-coding gene on chromosome 16q24.3, encoding Protein spire homolog 2 (Q8WWL2). Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament.

Predicted to enable microtubule binding activity. Involved in establishment of meiotic spindle localization; formin-nucleated actin cable assembly; and positive regulation of double-strand break repair. Predicted to be located in cleavage furrow. Predicted to be active in cell cortex and cytoplasmic vesicle membrane.

Source: NCBI Gene 84501 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 195 total — 1 pathogenic
• MANE Select transcript: NM_032451

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30623
Approved symbol	SPIRE2
Name	spire type actin nucleation factor 2
Location	16q24.3
Locus type	gene with protein product
Status	Approved
Aliases	spir-2, KIAA1832
Ensembl gene	ENSG00000204991
Ensembl biotype	protein_coding
OMIM	609217
Entrez	84501

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 7 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000378247, ENST00000393062, ENST00000561883, ENST00000562029, ENST00000563972, ENST00000564878, ENST00000565103, ENST00000565628, ENST00000566337, ENST00000569108, ENST00000929441, ENST00000929442, ENST00000967321, ENST00000967322

RefSeq mRNA: 1 — MANE Select: NM_032451 NM_032451

CCDS: CCDS32516

Canonical transcript exons

ENST00000378247 — 15 exons

Exon	Start	End
ENSE00001476822	89870050	89871319
ENSE00002590846	89828475	89828794
ENSE00003460077	89863794	89863861
ENSE00003469757	89855600	89855686
ENSE00003508540	89860683	89860795
ENSE00003528189	89858338	89858507
ENSE00003541676	89845322	89845365
ENSE00003543454	89856113	89856236
ENSE00003555683	89869567	89869682
ENSE00003569935	89854487	89854651
ENSE00003611109	89863476	89863610
ENSE00003643273	89868189	89868216
ENSE00003649419	89850304	89850660
ENSE00003664967	89854286	89854366
ENSE00003670615	89859165	89859354

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 96.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.3899 / max 59.3415, expressed in 1066 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155653	3.0548	1037
155652	0.2043	91
155654	0.0851	31
155655	0.0458	15

Top tissues by expression

254 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	96.85	gold quality
mucosa of transverse colon	UBERON:0004991	95.12	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.27	gold quality
cerebellar hemisphere	UBERON:0002245	94.19	gold quality
cerebellar cortex	UBERON:0002129	94.05	gold quality
cerebellum	UBERON:0002037	93.14	gold quality
buccal mucosa cell	CL:0002336	93.07	gold quality
right uterine tube	UBERON:0001302	92.79	gold quality
pituitary gland	UBERON:0000007	90.66	gold quality
adenohypophysis	UBERON:0002196	90.50	gold quality
cortical plate	UBERON:0005343	88.74	gold quality
transverse colon	UBERON:0001157	88.45	gold quality
right frontal lobe	UBERON:0002810	88.43	gold quality
oviduct epithelium	UBERON:0004804	88.10	gold quality
rectum	UBERON:0001052	87.80	gold quality
Brodmann (1909) area 9	UBERON:0013540	86.56	gold quality
anterior cingulate cortex	UBERON:0009835	86.12	gold quality
nucleus accumbens	UBERON:0001882	85.11	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	85.09	gold quality
hypothalamus	UBERON:0001898	84.54	gold quality
caudate nucleus	UBERON:0001873	84.24	gold quality
primary visual cortex	UBERON:0002436	84.13	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.95	gold quality
bronchial epithelial cell	CL:0002328	83.72	gold quality
brain	UBERON:0000955	83.68	gold quality
ileal mucosa	UBERON:0000331	83.59	gold quality
neocortex	UBERON:0001950	83.54	gold quality
placenta	UBERON:0001987	83.43	gold quality
right lobe of thyroid gland	UBERON:0001119	83.06	gold quality
bronchus	UBERON:0002185	83.04	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting SPIRE2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-4293	99.22	65.46	1263
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-222-5P	98.75	69.17	1242

Literature-anchored findings (GeneRIF, showing 4)

• both mammalian Spir proteins, Spir-1 and Spir-2, interact with mammalian Fmn subgroup proteins formin-1 and formin-2 (PMID:19605360)
• We therefore characterized co-expressed Spir-2 and Fmn-2 fluorescent protein fusions . The data corroborate a model according to which Spir-2 exists in two different states, a cytosolic monomeric conformation and a membrane-bound state (PMID:25564607)
• This DNA damage-induced nuclear actin assembly requires two biologically and physically linked nucleation factors: Formin-2 and Spire-1/Spire-2. (PMID:26287480)
• influences intracellular replication of Salmonella typhimurium (PMID:27627128)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	spire2	ENSDARG00000003084
mus_musculus	Spire2	ENSMUSG00000010154
rattus_norvegicus	Spire2	ENSRNOG00000016920
drosophila_melanogaster	spir	FBGN0003475

Paralogs (1): SPIRE1 (ENSG00000134278)

Protein

Protein identifiers

Protein spire homolog 2 — Q8WWL2 (reviewed: Q8WWL2)

All UniProt accessions (3): H3BV39, H3BV74, Q8WWL2

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport. Required for asymmetric spindle positioning and asymmetric cell division during meiosis. Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis. Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage.

Subcellular location. Cytoplasm. Cytoskeleton. Cytosol. Cell membrane. Cytoplasmic vesicle membrane.

Domain organisation. Binds to actin monomers via the WH2 domain. The Spir-box targets binding to intracellular membrane structures.

Similarity. Belongs to the spire family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8WWL2-1	1	yes
Q8WWL2-2	2
Q8WWL2-3	3
Q8WWL2-4	4

RefSeq proteins (1): NP_115827* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR011019	KIND_dom	Domain
IPR029901	Spire	Family

Pfam: PF16474

UniProt features (23 total): splice variant 5, domain 4, modified residue 4, sequence conflict 4, region of interest 3, chain 1, helix 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5JCY	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWL2-F1	66.66	0.24

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 440, 442, 476, 371

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_SPINDLE_LOCALIZATION, KEGG_DORSO_VENTRAL_AXIS_FORMATION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CYTOKINETIC_PROCESS, GOBP_REGULATION_OF_DNA_REPAIR, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, NIKOLSKY_BREAST_CANCER_16Q24_AMPLICON, GOBP_ORGANELLE_FISSION, GOBP_CYTOKINESIS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_DAMAGE_RESPONSE

GO Biological Process (12): protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), actin cytoskeleton organization (GO:0030036), cleavage furrow formation (GO:0036089), polar body extrusion after meiotic divisions (GO:0040038), actin nucleation (GO:0045010), intracellular transport (GO:0046907), Golgi vesicle transport (GO:0048193), establishment of meiotic spindle localization (GO:0051295), actin filament network formation (GO:0051639), formin-nucleated actin cable assembly (GO:0070649), positive regulation of double-strand break repair (GO:2000781)

GO Molecular Function (3): actin binding (GO:0003779), microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (9): cytosol (GO:0005829), cytoskeleton (GO:0005856), cell cortex (GO:0005938), cytoplasmic vesicle membrane (GO:0030659), cleavage furrow (GO:0032154), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
cytoplasm	3
cellular anatomical structure	3
actin filament organization	2
intracellular anatomical structure	2
cell periphery	2
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
cytoskeleton organization	1
actin filament-based process	1
cytokinetic process	1
cytoskeleton-dependent cytokinesis	1
plasma membrane invagination	1
female meiotic nuclear division	1
meiotic cytokinesis	1
cellular localization	1
establishment of localization in cell	1
vesicle-mediated transport	1
establishment of spindle localization	1
meiotic cell cycle	1
meiotic cell cycle process	1
parallel actin filament bundle assembly	1
formin-nucleated actin cable organization	1
double-strand break repair	1
positive regulation of DNA repair	1
regulation of double-strand break repair	1
cytoskeletal protein binding	1
tubulin binding	1
binding	1
intracellular membraneless organelle	1
vesicle membrane	1
cytoplasmic vesicle	1
cell division site	1
plasma membrane region	1
membrane	1
intracellular vesicle	1

Protein interactions and networks

STRING

1297 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPIRE2	FMN2	Q9NZ56	909
SPIRE2	FMN1	Q68DA7	840
SPIRE2	PCSK9	Q8NBP7	663
SPIRE2	MYO5A	Q9Y4I1	605
SPIRE2	DEF8	Q6ZN54	590
SPIRE2	ZNF276	Q8N554	583
SPIRE2	TCF25	Q9BQ70	572
SPIRE2	JMY	Q8N9B5	564
SPIRE2	DBNDD1	Q9H9R9	527
SPIRE2	MT-CO1	P00395	491
SPIRE2	LMOD2	Q6P5Q4	469
SPIRE2	SPATA33	Q96N06	464
SPIRE2	MLPH	Q9BV36	456
SPIRE2	LMOD3	Q0VAK6	454
SPIRE2	OR5K4	A6NMS3	447

IntAct

22 interactions, top by confidence:

A	B	Type	Score
BCL7A	ARID1A	psi-mi:“MI:0914”(association)	0.640
BCL7C	ARID1A	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
Fbxw11	CTNNB1	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
ACTG1	ENAH	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAH	FOXO6	psi-mi:“MI:0914”(association)	0.350
TMOD3	PRPF4	psi-mi:“MI:0914”(association)	0.350
ACTB	MYO1B	psi-mi:“MI:0914”(association)	0.350
SFN	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
YWHAB	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAE	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAH	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAQ	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAZ	E2F8	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	E2F8	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (29): SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-RNA), SPIRE2 (Two-hybrid), SPIRE2 (Proximity Label-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS), SPIRE2 (Affinity Capture-MS)

ESM2 similar proteins: A0JMF1, A2CI97, A3KNA7, A6NE52, B2GV47, E7FAW3, P60330, Q06ZW3, Q0VDN7, Q12769, Q1M161, Q2NKJ3, Q2YDQ5, Q3SYW0, Q3T1I9, Q3U6Q4, Q4FZR5, Q5EE38, Q5PNP6, Q5RDX3, Q5SUQ9, Q5TYP4, Q5ZIB8, Q6AYM1, Q6DG91, Q6IRN0, Q6NSI4, Q6NYX6, Q6P4K6, Q6PH58, Q6ZNJ1, Q6ZPG2, Q6ZQA0, Q7T006, Q7ZVM9, Q80TE0, Q80VA5, Q8BJW5, Q8BMG1, Q8C779

Diamond homologs: Q08AE8, Q1LYM3, Q4R707, Q52KF3, Q5U3H9, Q8K1S6, Q8WWL2, Q29KT5, Q9U1K1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 24 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	266.5×	1e-14
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	235.1×	2e-14
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	235.1×	2e-14
Activation of BH3-only proteins	7	173.8×	2e-13
RHO GTPases activate PKNs	7	111.0×	4e-12
Intrinsic Pathway for Apoptosis	7	102.5×	6e-12
FOXO-mediated transcription	5	84.0×	2e-08
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	69.5×	1e-13

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	87.2×	4e-07
intracellular protein localization	7	34.9×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

195 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	167
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3069206	NC_000016.9:g.(?89865477)(89895213_?)del	Pathogenic

SpliceAI

3959 predictions. Top by Δscore:

Variant	Effect	Δscore
16:89845316:TTACA:T	acceptor_loss	1.0000
16:89845317:TACA:T	acceptor_loss	1.0000
16:89845318:ACAG:A	acceptor_loss	1.0000
16:89845319:CAG:C	acceptor_loss	1.0000
16:89845320:A:AG	acceptor_gain	1.0000
16:89845321:G:GA	acceptor_gain	1.0000
16:89845321:G:T	acceptor_loss	1.0000
16:89845362:CCAG:C	donor_loss	1.0000
16:89845363:CAG:C	donor_loss	1.0000
16:89845364:AG:A	donor_loss	1.0000
16:89845365:GG:G	donor_loss	1.0000
16:89845366:GT:G	donor_loss	1.0000
16:89845367:T:A	donor_loss	1.0000
16:89850658:G:GT	donor_gain	1.0000
16:89854178:T:A	acceptor_gain	1.0000
16:89854363:CTGGG:C	donor_loss	1.0000
16:89854365:GG:G	donor_gain	1.0000
16:89854366:GG:G	donor_gain	1.0000
16:89854367:G:GC	donor_loss	1.0000
16:89854368:T:G	donor_loss	1.0000
16:89854477:T:TA	acceptor_gain	1.0000
16:89854478:G:A	acceptor_gain	1.0000
16:89854482:CCCA:C	acceptor_loss	1.0000
16:89854485:A:AT	acceptor_loss	1.0000
16:89858336:AG:A	acceptor_gain	1.0000
16:89858337:GG:G	acceptor_gain	1.0000
16:89858487:G:GT	donor_gain	1.0000
16:89860678:CCCA:C	acceptor_loss	1.0000
16:89860679:CCAGG:C	acceptor_loss	1.0000
16:89860680:CAGG:C	acceptor_loss	1.0000

AlphaMissense

4625 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:89855661:T:A	I318N	1.000
16:89855652:T:C	L315P	0.999
16:89855657:T:C	F317L	0.999
16:89855658:T:C	F317S	0.999
16:89855659:T:A	F317L	0.999
16:89855659:T:G	F317L	0.999
16:89855661:T:C	I318T	0.999
16:89855661:T:G	I318S	0.998
16:89855664:G:C	R319P	0.998
16:89856124:G:C	R330S	0.998
16:89856124:G:T	R330S	0.998
16:89863797:T:C	C572R	0.998
16:89863799:C:G	C572W	0.998
16:89863845:T:C	C588R	0.998
16:89863847:T:G	C588W	0.998
16:89868196:T:C	C596R	0.998
16:89870132:T:C	C669R	0.998
16:89870141:T:C	C672R	0.998
16:89828671:T:A	W41R	0.997
16:89828671:T:C	W41R	0.997
16:89828673:G:C	W41C	0.997
16:89828673:G:T	W41C	0.997
16:89854605:T:C	L282P	0.997
16:89855658:T:G	F317C	0.997
16:89855666:T:C	S320P	0.997
16:89855669:C:G	R321G	0.997
16:89863533:C:A	R545S	0.997
16:89863854:T:C	C591R	0.997
16:89863855:G:A	C591Y	0.997
16:89863856:C:G	C591W	0.997

dbSNP variants (sampled 300 via entrez): RS1000091326 (16:89856659 C>T), RS1000135075 (16:89836116 A>G), RS1000181534 (16:89859602 A>G), RS1000187229 (16:89857725 C>A,T), RS1000331789 (16:89845077 G>C), RS1000337211 (16:89849554 G>A,C), RS1000393659 (16:89861758 G>A,T), RS1000419553 (16:89866660 G>C), RS1000433726 (16:89849845 T>A), RS1000462537 (16:89856423 A>T), RS1000505858 (16:89853128 C>G), RS1000572686 (16:89837408 G>T), RS1000586759 (16:89832365 C>T), RS1000705678 (16:89829540 C>G,T), RS1000763114 (16:89854881 G>A)

Disease associations

OMIM: gene MIM:609217 | disease phenotypes: MIM:227650

GenCC curated gene-disease

Mondo (1): Fanconi anemia (MONDO:0019391)

Orphanet (1): Fanconi anemia (Orphanet:84)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST005897_54	Low tan response	0.000000e+00
GCST006986_27	Red vs. brown/black hair color	2.000000e-308
GCST006986_5	Red vs. brown/black hair color	3.000000e-11
GCST010102_8	White matter integrity (fractional anisotropy)	1.000000e-09
GCST010152_14	Neuroblastoma or malignant cutaneous melanoma	1.000000e-12
GCST010703_280	Brain morphology (MOSTest)	2.000000e-15
GCST90002387_18	Immature fraction of reticulocytes	7.000000e-13
GCST90002396_605	Mean reticulocyte volume	3.000000e-27
GCST90010427_18	Left–right brain asymmetry	2.000000e-14
GCST90013410_54	Basal cell carcinoma	1.000000e-09
GCST90020028_1505	Hip circumference adjusted for BMI	7.000000e-12

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004279	suntan
EFO:0003924	hair color
EFO:0004641	white matter integrity
EFO:0004346	neuroimaging measurement
EFO:0010701	mean reticulocyte volume
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	2
Estradiol	affects binding, increases expression, decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Cyclosporine	decreases expression, increases methylation	2
Aflatoxin B1	increases methylation	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	affects methylation	1
clothianidin	decreases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Caffeine	affects phosphorylation	1
Cannabinoids	affects methylation, increases abundance	1
Coumestrol	decreases expression	1
Methapyrilene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	increases phosphorylation	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

84 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT06519786	PHASE3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00000603	PHASE2	COMPLETED	Cord Blood Stem Cell Transplantation Study (COBLT)
NCT00001749	PHASE2	COMPLETED	Medical Treatment for Diamond Blackfan Anemia
NCT00004787	PHASE2	COMPLETED	Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
NCT00053989	PHASE2	COMPLETED	NMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders
NCT00084695	PHASE2	UNKNOWN	Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases
NCT00258427	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
NCT00453388	PHASE2	COMPLETED	Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia
NCT01071239	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplant for Fanconi Anemia
NCT02143830	PHASE2	RECRUITING	HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy
NCT02931071	PHASE2	COMPLETED	Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1
NCT03206086	PHASE2	ACTIVE_NOT_RECRUITING	Eltrombopag for People With Fanconi Anemia
NCT03398824	PHASE2	COMPLETED	Pilot Study of Metformin for Patients With Fanconi Anemia
NCT03476330	PHASE2	COMPLETED	Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia
NCT03579875	PHASE2	RECRUITING	Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
NCT03600909	PHASE2	TERMINATED	A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia
NCT04232085	PHASE2	RECRUITING	Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT06045052	PHASE2	COMPLETED	Eltrombopag for Treatment of Fanconi Anemia
NCT00001399	PHASE1	COMPLETED	Gene Therapy for the Treatment of Fanconi’s Anemia Type C
NCT00005896	PHASE1	UNKNOWN	Phase I Pilot Study of CD34 Enriched, Fanconi’s Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi’s Anemia
NCT00006127	PHASE1	UNKNOWN	Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi’s Anemia
NCT00093743	PHASE1	COMPLETED	Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia
NCT00243399	PHASE1	COMPLETED	Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia
NCT00272857	PHASE1	COMPLETED	Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia
NCT00317876	PHASE1	COMPLETED	Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi’s Anemia
NCT00586274	PHASE1	TERMINATED	Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
NCT01331018	PHASE1	TERMINATED	Gene Therapy for Fanconi Anemia
NCT01720147	PHASE1	COMPLETED	Quercetin in Children With Fanconi Anemia; a Pilot Study
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00352976	PHASE2/PHASE3	COMPLETED	TBI Dose De-escalation for Fanconi Anemia
NCT01019876	PHASE2/PHASE3	COMPLETED	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT00005898	PHASE1/PHASE2	COMPLETED	Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi’s Anemia
NCT00167206	PHASE1/PHASE2	TERMINATED	Stem Cell Transplantation for Fanconi Anemia
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT00479115	PHASE1/PHASE2	COMPLETED	Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100
NCT00590460	PHASE1/PHASE2	TERMINATED	Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia
NCT00630253	PHASE1/PHASE2	COMPLETED	Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia
NCT01001598	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT02678533	PHASE1/PHASE2	COMPLETED	Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor