ZNF276

Summary

ZNF276 (zinc finger protein 276, HGNC:23330) is a protein-coding gene on chromosome 16q24.3, encoding Zinc finger protein 276 (Q8N554). May be involved in transcriptional regulation.

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in kinetochore.

Source: NCBI Gene 92822 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 329 total — 28 pathogenic, 11 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001113525

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23330
Approved symbol	ZNF276
Name	zinc finger protein 276
Location	16q24.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT
Ensembl gene	ENSG00000158805
Ensembl biotype	protein_coding
OMIM	608460
Entrez	92822

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 8 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay

ENST00000289816, ENST00000443381, ENST00000561536, ENST00000562530, ENST00000563541, ENST00000563983, ENST00000564004, ENST00000568064, ENST00000568295, ENST00000569426, ENST00000569582, ENST00000569901, ENST00000906560, ENST00000916586, ENST00000950694, ENST00000950695, ENST00000950696

RefSeq mRNA: 2 — MANE Select: NM_001113525 NM_001113525, NM_152287

CCDS: CCDS10986, CCDS45554

Canonical transcript exons

ENST00000443381 — 11 exons

Exon	Start	End
ENSE00001642834	89721537	89721845
ENSE00003459319	89733921	89734038
ENSE00003467757	89727279	89727357
ENSE00003474484	89722531	89722834
ENSE00003476969	89737806	89737905
ENSE00003542005	89723260	89723709
ENSE00003552102	89737976	89740925
ENSE00003553126	89733482	89733557
ENSE00003627418	89733302	89733412
ENSE00003665315	89729235	89729318
ENSE00003683526	89723137	89723183

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 97.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.9822 / max 118.9985, expressed in 1757 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155646	3.4742	1176
155644	3.1437	1379
155647	2.1862	770
155645	0.7436	375
155651	0.2930	68
155650	0.1415	57

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	97.98	gold quality
sural nerve	UBERON:0015488	97.87	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.44	gold quality
lower esophagus mucosa	UBERON:0035834	94.94	gold quality
cerebellar hemisphere	UBERON:0002245	94.62	gold quality
cerebellar cortex	UBERON:0002129	94.46	gold quality
tibial nerve	UBERON:0001323	93.40	gold quality
left ovary	UBERON:0002119	92.82	gold quality
spleen	UBERON:0002106	92.30	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.29	gold quality
cerebellum	UBERON:0002037	92.26	gold quality
right ovary	UBERON:0002118	92.24	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.99	gold quality
apex of heart	UBERON:0002098	91.81	gold quality
skin of leg	UBERON:0001511	91.64	gold quality
adenohypophysis	UBERON:0002196	91.54	gold quality
ectocervix	UBERON:0012249	91.29	gold quality
skin of abdomen	UBERON:0001416	91.22	gold quality
endocervix	UBERON:0000458	91.21	gold quality
right frontal lobe	UBERON:0002810	91.20	gold quality
right lobe of thyroid gland	UBERON:0001119	91.17	gold quality
right uterine tube	UBERON:0001302	91.07	gold quality
esophagus mucosa	UBERON:0002469	90.95	gold quality
left uterine tube	UBERON:0001303	90.80	gold quality
left lobe of thyroid gland	UBERON:0001120	90.65	gold quality
body of uterus	UBERON:0009853	90.41	gold quality
metanephros cortex	UBERON:0010533	90.28	gold quality
pituitary gland	UBERON:0000007	90.21	gold quality
transverse colon	UBERON:0001157	90.20	gold quality
mucosa of transverse colon	UBERON:0004991	90.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

76 targeting ZNF276, 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-5692A	100.00	74.40	6850
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-1296-3P	99.72	64.04	636
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-1303	99.65	69.77	1662

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf276	ENSDARG00000110991
mus_musculus	Zfp276	ENSMUSG00000001065
rattus_norvegicus	Zfp276	ENSRNOG00000016631

Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), PRDM14 (ENSG00000147596), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)

Protein

Protein identifiers

Zinc finger protein 276 — Q8N554 (reviewed: Q8N554)

Alternative names: Zinc finger protein 477

All UniProt accessions (5): Q8N554, H3BPJ6, H3BPT7, H3BTK0, H3BTT0

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus. Chromosome. Centromere. Kinetochore.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N554-1	1	yes
Q8N554-2	2

RefSeq proteins (2): NP_001106997, NP_689500 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012934	Znf_AD	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF07776

UniProt features (27 total): zinc finger region 5, compositionally biased region 4, binding site 4, sequence variant 4, sequence conflict 4, region of interest 3, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N554-F1	56.21	0.08

Functional residue map

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

Ligand- & substrate-binding residues (4): 79; 82; 136; 139

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 125 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, CATRRAGC_UNKNOWN, NIKOLSKY_BREAST_CANCER_16Q24_AMPLICON, RYTTCCTG_ETS2_B, NERF_Q2, GOCC_CHROMOSOMAL_REGION, GOCC_CONDENSED_CHROMOSOME_CENTROMERIC_REGION, ROYLANCE_BREAST_CANCER_16Q_COPY_NUMBER_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, MARTENS_TRETINOIN_RESPONSE_DN, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_QTL_TRANS, RATTENBACHER_BOUND_BY_CELF1

GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (6): zinc ion binding (GO:0008270), chromatin insulator sequence binding (GO:0043035), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): kinetochore (GO:0000776), nucleus (GO:0005634), chromosome (GO:0005694), chromosome, centromeric region (GO:0000775)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
transition metal ion binding	1
chromatin DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
cation binding	1
condensed chromosome, centromeric region	1
supramolecular complex	1
intracellular membrane-bounded organelle	1
chromosomal region	1

Protein interactions and networks

STRING

710 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF276	CDK10	Q15131	806
ZNF276	GALNS	P34059	766
ZNF276	FANCA	O15360	762
ZNF276	SPG7	Q9UQ90	738
ZNF276	ZNF827	Q17R98	668
ZNF276	VPS9D1	Q9Y2B5	661
ZNF276	APRT	P07741	610
ZNF276	SPIRE2	Q8WWL2	583
ZNF276	DEF8	Q6ZN54	559
ZNF276	NAIF1	Q69YI7	508
ZNF276	SRBD1	Q8N5C6	490
ZNF276	RNF166	Q96A37	479
ZNF276	OR1L3	Q8NH93	476
ZNF276	TCF25	Q9BQ70	475
ZNF276	CCNL1	Q9UK58	474
ZNF276	OR1L1	Q8NH94	474

IntAct

53 interactions, top by confidence:

A	B	Type	Score
ZBTB8A	ZNF276	psi-mi:“MI:0915”(physical association)	0.780
ZNF276	ZBTB8A	psi-mi:“MI:0915”(physical association)	0.780
ATXN1	ZNF276	psi-mi:“MI:0915”(physical association)	0.670
FAM161A	ZNF276	psi-mi:“MI:0915”(physical association)	0.560
CDC37	ZNF276	psi-mi:“MI:0915”(physical association)	0.560
TCEANC	ZNF276	psi-mi:“MI:0915”(physical association)	0.560
PFKFB1	ZNF276	psi-mi:“MI:0915”(physical association)	0.560
AP1M1	ZNF276	psi-mi:“MI:0915”(physical association)	0.560
ZNF276	TCEANC	psi-mi:“MI:0915”(physical association)	0.560
ZNF276	PICK1	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	ZNF276	psi-mi:“MI:0915”(physical association)	0.560
SEPHS1	ZNF276	psi-mi:“MI:0915”(physical association)	0.560
ZNF276	AP1M1	psi-mi:“MI:0915”(physical association)	0.560
ZNF276	MORF4L1	psi-mi:“MI:0915”(physical association)	0.560
ZNF276	CIB3	psi-mi:“MI:0915”(physical association)	0.560
ZNF276	SNRPA1	psi-mi:“MI:0915”(physical association)	0.400
ZNF276	GCC1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (36): ZNF276 (Two-hybrid), ZBTB8A (Two-hybrid), ZNF276 (Two-hybrid), ZNF276 (Two-hybrid), ZBTB8A (Two-hybrid), ZNF276 (Affinity Capture-MS), ZNF276 (Affinity Capture-MS), ZNF276 (Two-hybrid), ZNF276 (Two-hybrid), ZNF276 (Two-hybrid), ZNF276 (Two-hybrid), ZNF276 (Two-hybrid), ZNF276 (Two-hybrid), ZNF276 (Two-hybrid), ZBTB8A (Two-hybrid)

ESM2 similar proteins: A1L3C1, A2AWP8, A2RRU4, A6QM06, A6QNS9, E1BBQ2, F1LQY6, G3V9M2, O43189, O94827, P29372, P29590, P41155, P97260, Q01113, Q02833, Q04841, Q0P5I0, Q12770, Q13387, Q13505, Q29RM4, Q32L49, Q3V1H9, Q5MNU5, Q5R5M3, Q66T02, Q69Z89, Q6GQT6, Q6IPT2, Q6RFZ7, Q6ZN54, Q70EL4, Q7Z6G3, Q8BQB4, Q8C4U2, Q8N1F8, Q8N554, Q8WWW0, Q8WXF8

Diamond homologs: Q8CE64, Q8N554

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	28
Likely pathogenic	11
Uncertain significance	199
Likely benign	35
Benign	6

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1179109	GRCh37/hg19 16q24.3(chr16:89620873-89881041)	Pathogenic
1319519	NM_000135.4(FANCA):c.4021_4027del (p.Tyr1341fs)	Pathogenic
1440483	NC_000016.9:g.(?89805009)(89806517_?)del	Pathogenic
1977466	NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)	Pathogenic
2675416	NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)	Pathogenic
2816628	NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)	Pathogenic
3243245	NC_000016.9:g.(?89805009)(89862436_?)del	Pathogenic
3243267	NC_000016.9:g.(?89805009)(89825133_?)del	Pathogenic
3243273	NC_000016.9:g.(?89806382)(89807294_?)del	Pathogenic
553736	NM_000135.4(FANCA):c.3934+2T>C	Pathogenic
974017	NC_000016.10:g.(89740867_89742799)_(89779958_89782858)del	Pathogenic
974060	NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly)	Pathogenic
974062	NM_000135.4(FANCA):c.4010_4010+18del	Pathogenic
974066	NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)	Pathogenic
974104	NC_000016.10:g.(?89737551)(89799639_89803258)del	Pathogenic
974169	NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)	Pathogenic
974171	NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro)	Pathogenic
974172	NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)	Pathogenic
974174	NM_000135.4(FANCA):c.4261-3C>G	Pathogenic
974182	NC_000016.10:g.(89740867_89742799)(89816657?)del	Pathogenic
974266	NC_000016.10:g.(?89737551)(89740867_89742799)del	Pathogenic
974267	NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del)	Pathogenic
974269	NM_000135.4(FANCA):c.3828+1G>T	Pathogenic
974271	NM_000135.4(FANCA):c.3829-1G>C	Pathogenic
974273	NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)	Pathogenic
974356	NM_000135.4(FANCA):c.3917_3918del (p.Phe1306fs)	Pathogenic
974358	NM_000135.4(FANCA):c.3926_3929del (p.Thr1309fs)	Pathogenic
974361	NM_000135.4(FANCA):c.3973G>C (p.Asp1325His)	Pathogenic
2675425	NM_000135.4(FANCA):c.3937del (p.Leu1313fs)	Likely pathogenic
2675442	NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)	Likely pathogenic

SpliceAI

3217 predictions. Top by Δscore:

Variant	Effect	Δscore
16:89720761:AC:A	donor_gain	1.0000
16:89720762:CC:C	donor_gain	1.0000
16:89722820:G:GT	donor_gain	1.0000
16:89722835:G:GG	donor_gain	1.0000
16:89722865:GGCT:G	donor_gain	1.0000
16:89722866:GCTG:G	donor_gain	1.0000
16:89727338:T:G	donor_gain	1.0000
16:89729229:TCCTA:T	acceptor_loss	1.0000
16:89729232:TA:T	acceptor_loss	1.0000
16:89729233:A:AG	acceptor_gain	1.0000
16:89729233:A:C	acceptor_loss	1.0000
16:89729234:G:GG	acceptor_gain	1.0000
16:89729234:GA:G	acceptor_gain	1.0000
16:89729234:GAGA:G	acceptor_gain	1.0000
16:89729234:GAGAC:G	acceptor_gain	1.0000
16:89729314:AGGAA:A	donor_gain	1.0000
16:89729315:GGAA:G	donor_gain	1.0000
16:89729315:GGAAG:G	donor_gain	1.0000
16:89729316:G:GT	donor_gain	1.0000
16:89729316:G:T	donor_gain	1.0000
16:89729316:GAA:G	donor_gain	1.0000
16:89729316:GAAGT:G	donor_loss	1.0000
16:89729317:AA:A	donor_gain	1.0000
16:89729318:AG:A	donor_loss	1.0000
16:89729319:G:GG	donor_gain	1.0000
16:89729319:GTA:G	donor_loss	1.0000
16:89729320:T:A	donor_loss	1.0000
16:89733919:A:AG	acceptor_gain	1.0000
16:89733920:G:GG	acceptor_gain	1.0000
16:89733920:GAA:G	acceptor_gain	1.0000

AlphaMissense

4004 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:89733507:T:C	C436R	1.000
16:89733990:T:C	F476L	1.000
16:89733991:T:C	F476S	1.000
16:89733992:C:A	F476L	1.000
16:89733992:C:G	F476L	1.000
16:89734009:T:C	L482P	1.000
16:89737823:T:C	C498R	1.000
16:89737844:T:C	F505L	1.000
16:89737845:T:C	F505S	1.000
16:89737846:C:A	F505L	1.000
16:89737846:C:G	F505L	1.000
16:89737863:T:C	L511P	1.000
16:89737871:C:G	H514D	1.000
16:89737977:T:C	C526R	1.000
16:89737992:T:C	F531L	1.000
16:89737994:C:A	F531L	1.000
16:89737994:C:G	F531L	1.000
16:89738017:T:C	L539P	1.000
16:89738025:C:G	H542D	1.000
16:89738067:T:C	C556R	1.000
16:89738088:T:C	F563L	1.000
16:89738089:T:C	F563S	1.000
16:89738090:T:A	F563L	1.000
16:89738090:T:G	F563L	1.000
16:89738107:T:C	L569P	1.000
16:89738115:C:G	H572D	1.000
16:89733507:T:A	C436S	0.999
16:89733508:G:C	C436S	0.999
16:89733509:T:G	C436W	0.999
16:89733522:T:A	C441S	0.999

dbSNP variants (sampled 300 via entrez): RS1000075571 (16:89731773 T>C), RS1000079391 (16:89723833 C>A,G,T), RS1000156031 (16:89722405 C>A,T), RS1000230947 (16:89722210 G>A), RS1000364012 (16:89718607 G>T), RS1000516401 (16:89726440 G>A), RS1000531473 (16:89731679 C>T), RS1000539124 (16:89729417 C>A,G,T), RS1000688600 (16:89730581 G>C), RS1000705280 (16:89725373 G>A), RS1000770350 (16:89725818 C>G,T), RS1000944023 (16:89736255 G>A,C), RS1000953869 (16:89736094 C>T), RS1001002219 (16:89737603 C>T), RS1001042577 (16:89739619 C>T)

Disease associations

OMIM: gene MIM:608460 | disease phenotypes: MIM:227650, MIM:167000

GenCC curated gene-disease

Mondo (5): Fanconi anemia (MONDO:0019391), Fanconi anemia complementation group A (MONDO:0009215), breast ductal adenocarcinoma (MONDO:0005590), microcephaly (MONDO:0001149), ovarian cancer (MONDO:0008170)

Orphanet (2): Fanconi anemia (Orphanet:84), Rare ovarian cancer (Orphanet:213500)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000252	Microcephaly

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST008870_17	Keratinocyte cancer (MTAG)	5.000000e-10
GCST010703_280	Brain morphology (MOSTest)	2.000000e-15
GCST90002390_124	Mean corpuscular hemoglobin	7.000000e-18
GCST90002392_2	Mean corpuscular volume	6.000000e-24
GCST90020029_815	Waist circumference adjusted for body mass index	3.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0010176	keratinocyte carcinoma
EFO:0004346	neuroimaging measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
bisphenol A	decreases methylation	1
beta-lapachone	decreases expression	1
coumarin	decreases phosphorylation	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Arsenic	affects methylation	1
Lead	increases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

116 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
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
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
NCT04069533	PHASE2	ACTIVE_NOT_RECRUITING	Lentiviral-mediated Gene Therapy for Pediatric Patients With Fanconi Anemia Subtype A
NCT04248439	PHASE2	ACTIVE_NOT_RECRUITING	Gene Therapy for Fanconi Anemia, Complementation Group A
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
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
NCT03814408	PHASE1	UNKNOWN	A Clinical Trial to Evaluate the Safety of RP-L102 in Pediatric Subjects With Fanconi Anemia Subtype A
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