ZNF699

Summary

ZNF699 (zinc finger protein 699, HGNC:24750) is a protein-coding gene on chromosome 19p13.2, encoding Zinc finger protein 699 (Q32M78). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 374879 — RefSeq curated summary.

At a glance

• Gene–disease (curated): DEGCAGS syndrome (Strong, GenCC)
• Clinical variants (ClinVar): 110 total — 9 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 125
• Transcription factor: yes — 61 downstream targets (CollecTRI)
• MANE Select transcript: NM_198535

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24750
Approved symbol	ZNF699
Name	zinc finger protein 699
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38144
Ensembl gene	ENSG00000196110
Ensembl biotype	protein_coding
OMIM	609571
Entrez	374879

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000308650, ENST00000588336, ENST00000591998, ENST00000952100

RefSeq mRNA: 1 — MANE Select: NM_198535 NM_198535

CCDS: CCDS42495

Canonical transcript exons

ENST00000591998 — 6 exons

Exon	Start	End
ENSE00001200051	9297296	9297479
ENSE00001200066	9291140	9296933
ENSE00001218018	9297880	9297990
ENSE00001601798	9302378	9302504
ENSE00002849646	9305072	9305124
ENSE00002957298	9309350	9309838

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 82.63.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3819 / max 28.7072, expressed in 745 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179001	1.3145	692
179000	0.0674	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	82.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.07	gold quality
cortical plate	UBERON:0005343	75.64	gold quality
ganglionic eminence	UBERON:0004023	72.55	gold quality
islet of Langerhans	UBERON:0000006	71.56	gold quality
colonic epithelium	UBERON:0000397	71.46	gold quality
stromal cell of endometrium	CL:0002255	71.07	gold quality
endometrium	UBERON:0001295	70.85	gold quality
ventricular zone	UBERON:0003053	70.82	gold quality
smooth muscle tissue	UBERON:0001135	69.38	gold quality
lymph node	UBERON:0000029	69.17	gold quality
leukocyte	CL:0000738	69.13	gold quality
corpus callosum	UBERON:0002336	68.72	gold quality
monocyte	CL:0000576	68.70	gold quality
descending thoracic aorta	UBERON:0002345	68.47	gold quality
granulocyte	CL:0000094	68.37	gold quality
bone marrow cell	CL:0002092	68.35	silver quality
bone marrow	UBERON:0002371	68.28	gold quality
tonsil	UBERON:0002372	68.28	gold quality
adrenal tissue	UBERON:0018303	68.27	gold quality
urinary bladder	UBERON:0001255	67.74	gold quality
ovary	UBERON:0000992	67.39	gold quality
left ovary	UBERON:0002119	66.70	gold quality
mucosa of stomach	UBERON:0001199	66.50	gold quality
body of uterus	UBERON:0009853	66.37	gold quality
myometrium	UBERON:0001296	66.36	gold quality
vermiform appendix	UBERON:0001154	66.14	gold quality
tibial artery	UBERON:0007610	66.07	gold quality
popliteal artery	UBERON:0002250	66.05	gold quality
right ovary	UBERON:0002118	66.02	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.10

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

61 targets.

Target	Regulation
ABCB1
AFP
AKT1
ASCL1
CCND2
CDH1
CDK2
CHL1
CHMP4A
CR1
CYP21A1P
CYP7A1
DDX11
DNAJB1
DSC1
EHD1
EIF3K
ERBB2
ETS2
FASLG
FGFR1
FGFR3
FLII
GAD1
GJA1
GNAS
GPRASP1
GRPR
HTR2C
IDO1

JASPAR motifs

Motif	Name	Family
MA2525.1	ZNF699	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605530

miRNA regulators (miRDB)

153 targeting ZNF699, 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-3924	100.00	72.09	2394
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-302C-5P	99.97	72.56	3642

Literature-anchored findings (GeneRIF, showing 2)

• In analyses of genetically independent cases and controls, four of the seven single markers show strong evidence for association with alcohol dependence, and the most significant single marker, rs7254880, tags an associated haplotype with frequency 0.071. (PMID:16940975)
• Results show no associations between polymorphisms in ZNF699 and alcohol dependence per se but s significant allelic association was found between rs7254880 in ZNF699 and alcohol-related cirrhosis. (PMID:26368818)

Cross-species orthologs

0 orthologs

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)

Protein

Protein identifiers

Zinc finger protein 699 — Q32M78 (reviewed: Q32M78)

Alternative names: Hangover homolog

All UniProt accessions (1): Q32M78

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Disease relevance. DEGCAGS syndrome (DEGCAGS) [MIM:619488] An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, coarse facial features, and abnormalities of the cardiovascular, gastrointestinal, genitourinary and skeletal system. Other common features included anemia or pancytopenia, immunodeficiency and recurrent infections, and sensorineural hearing impairment. Death in childhood may occur. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (1): NP_940937* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF01352

UniProt features (18 total): zinc finger region 16, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q32M78-F1	70.23	0.07

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 325 (showing top): chr19p13, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, PEDRIOLI_MIR31_TARGETS_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ZNF407_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P, MIR4262, MIR548P, MIR186_5P, MIR3133, MIR656_3P, MIR204_5P, MIR211_5P

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF699	RNH1	P13489	687
ZNF699	ANG	P03950	544
ZNF699	AGT	P01019	507
ZNF699	OR7G1	Q8NGA0	434
ZNF699	KMT2D	O14686	403
ZNF699	REN	P00797	401
ZNF699	ARL6IP5	O75915	377
ZNF699	OR4D6	Q8NGJ1	358
ZNF699	RNASE1	P07998	355
ZNF699	OR8B8	Q15620	350
ZNF699	GABRA2	P47869	298
ZNF699	AKAP14	Q86UN6	284
ZNF699	TAS2R16	Q9NYV7	276
ZNF699	K7ERQ8	K7ERQ8	271
ZNF699	TRIM49	P0CI25	269

IntAct

26 interactions, top by confidence:

A	B	Type	Score
ZNF699	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.560
	ZNF699	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-9	ZNF699	psi-mi:“MI:0915”(physical association)	0.560
SRRM4	ZNF699	psi-mi:“MI:0915”(physical association)	0.560
EFEMP2	ZNF699	psi-mi:“MI:0915”(physical association)	0.560
HEXIM2	ZNF699	psi-mi:“MI:0915”(physical association)	0.560
ZNF699	DVL3	psi-mi:“MI:0915”(physical association)	0.560
HRC	ZNF699	psi-mi:“MI:0915”(physical association)	0.560
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
DCUN1D1	RGSL1	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
OR52B2	PCCA	psi-mi:“MI:0914”(association)	0.350
SRRM4	ZNF699	psi-mi:“MI:0915”(physical association)	0.000
EFEMP2	ZNF699	psi-mi:“MI:0915”(physical association)	0.000
HEXIM2	ZNF699	psi-mi:“MI:0915”(physical association)	0.000
DVL3	ZNF699	psi-mi:“MI:0915”(physical association)	0.000
HRC	ZNF699	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): KRTAP10-9 (Two-hybrid), KRTAP10-3 (Two-hybrid), ZNF699 (Affinity Capture-RNA), ZNF699 (Two-hybrid), ZNF699 (Two-hybrid), ZNF699 (Two-hybrid), ZNF699 (Two-hybrid), ZNF699 (Two-hybrid), ZNF699 (Positive Genetic), ZNF699 (Affinity Capture-MS), ZNF699 (Affinity Capture-MS), ZNF699 (Affinity Capture-MS), ZNF699 (Affinity Capture-MS), ZNF699 (Affinity Capture-MS)

ESM2 similar proteins: A2VDP4, A6NHJ4, O94892, P0CJ79, P17014, P17021, P17025, P17032, P17035, P18733, P51508, P51814, Q06730, Q06732, Q09FC8, Q0VGE8, Q14586, Q32M78, Q3MIS6, Q5JVG2, Q5R4K8, Q5R9S5, Q5RBQ3, Q5RCJ2, Q5RER9, Q5TYW1, Q5VIY5, Q6P560, Q6PDB4, Q6ZMW2, Q6ZN06, Q6ZNA1, Q76KX8, Q7L2R6, Q86Y25, Q8N184, Q8N823, Q8N883, Q8N8J6, Q8NEP9

Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	5
Uncertain significance	78
Likely benign	13
Benign	0

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1205835	NM_198535.3(ZNF699):c.436_439del (p.Asp146fs)	Pathogenic
1205837	NM_198535.3(ZNF699):c.1324dup (p.Ser442fs)	Pathogenic
1205838	NM_198535.3(ZNF699):c.349dup (p.Ile117fs)	Pathogenic
1205839	NM_198535.3(ZNF699):c.51_54del (p.Asp17fs)	Pathogenic
1708057	NM_198535.3(ZNF699):c.159_166delinsTTCTTA (p.Gln53fs)	Pathogenic
2584361	NM_198535.3(ZNF699):c.1310_1311del (p.His437fs)	Pathogenic
2921275	NM_198535.3(ZNF699):c.339del (p.Cys113fs)	Pathogenic
3254948	NM_198535.3(ZNF699):c.1491_1492del (p.His497fs)	Pathogenic
3387783	NM_198535.3(ZNF699):c.535C>T (p.Gln179Ter)	Pathogenic
2632595	NM_198535.3(ZNF699):c.1100_1101del (p.Glu367fs)	Likely pathogenic
2921280	NM_198535.3(ZNF699):c.421_424del (p.Glu141fs)	Likely pathogenic
3387784	NM_198535.3(ZNF699):c.1327C>T (p.Arg443Ter)	Likely pathogenic
3901835	NM_198535.3(ZNF699):c.358G>T (p.Glu120Ter)	Likely pathogenic
3901836	NM_198535.3(ZNF699):c.826A>T (p.Lys276Ter)	Likely pathogenic

SpliceAI

544 predictions. Top by Δscore:

Variant	Effect	Δscore
19:9296929:GATTT:G	acceptor_gain	1.0000
19:9296931:TTT:T	acceptor_gain	1.0000
19:9296931:TTTC:T	acceptor_loss	1.0000
19:9296932:TT:T	acceptor_gain	1.0000
19:9296934:C:CC	acceptor_gain	1.0000
19:9296935:T:C	acceptor_gain	1.0000
19:9296936:T:C	acceptor_gain	1.0000
19:9296937:T:C	acceptor_gain	1.0000
19:9296937:T:TC	acceptor_gain	1.0000
19:9297291:CTCA:C	donor_loss	1.0000
19:9297292:TCA:T	donor_loss	1.0000
19:9297293:CA:C	donor_loss	1.0000
19:9297294:A:AT	donor_loss	1.0000
19:9297480:C:CC	acceptor_gain	1.0000
19:9297480:CTGA:C	acceptor_loss	1.0000
19:9297481:T:C	acceptor_loss	1.0000
19:9297486:C:CT	acceptor_gain	1.0000
19:9297865:C:CA	donor_gain	1.0000
19:9297882:T:TA	donor_gain	1.0000
19:9297883:C:A	donor_gain	1.0000
19:9297893:T:A	donor_gain	1.0000
19:9297894:C:CA	donor_gain	1.0000
19:9302372:TCTTA:T	donor_loss	1.0000
19:9302373:CTTAC:C	donor_loss	1.0000
19:9302374:TTACC:T	donor_loss	1.0000
19:9302375:TACC:T	donor_loss	1.0000
19:9302376:A:AC	donor_gain	1.0000
19:9302376:A:AG	donor_loss	1.0000
19:9302377:C:A	donor_loss	1.0000
19:9302377:C:CC	donor_gain	1.0000

AlphaMissense

4295 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:9296372:A:C	F344L	0.999
19:9296372:A:T	F344L	0.999
19:9296374:A:G	F344L	0.999
19:9296288:G:C	F372L	0.998
19:9296288:G:T	F372L	0.998
19:9296290:A:G	F372L	0.998
19:9296355:A:G	L350P	0.998
19:9296456:G:C	F316L	0.998
19:9296456:G:T	F316L	0.998
19:9296458:A:G	F316L	0.998
19:9295700:A:C	F568L	0.995
19:9295700:A:T	F568L	0.995
19:9295702:A:G	F568L	0.995
19:9296368:A:G	S346P	0.994
19:9296373:A:G	F344S	0.994
19:9295616:G:C	F596L	0.993
19:9295616:G:T	F596L	0.993
19:9295618:A:G	F596L	0.993
19:9295784:A:C	F540L	0.993
19:9295784:A:T	F540L	0.993
19:9295786:A:G	F540L	0.993
19:9296339:T:A	R355S	0.993
19:9296339:T:G	R355S	0.993
19:9296271:A:G	L378P	0.992
19:9296345:A:C	H353Q	0.992
19:9296345:A:T	H353Q	0.992
19:9296431:G:C	H325D	0.992
19:9296439:A:G	L322P	0.992
19:9296429:G:C	H325Q	0.991
19:9296429:G:T	H325Q	0.991

dbSNP variants (sampled 300 via entrez): RS1000177678 (19:9301403 A>G), RS1000316447 (19:9307144 T>C), RS1000535525 (19:9309319 C>G), RS1000541152 (19:9294446 A>G), RS1000651569 (19:9308965 C>T), RS1000853375 (19:9301136 AAAGAG>A), RS1000908177 (19:9302922 A>C), RS1001146129 (19:9303301 C>G), RS1001250650 (19:9298328 C>G,T), RS1001362021 (19:9293800 A>AT), RS1001457228 (19:9300337 C>G), RS1001639952 (19:9290901 A>T), RS1001886958 (19:9304464 A>G), RS1002214660 (19:9310362 A>T), RS1002329022 (19:9310105 A>G)

Disease associations

OMIM: gene MIM:609571 | disease phenotypes: MIM:619488, MIM:105650

GenCC curated gene-disease

Disease	Classification	Inheritance
DEGCAGS syndrome	Strong	Autosomal recessive

Mondo (2): DEGCAGS syndrome (MONDO:0859181), Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (1): Diamond-Blackfan anemia (Orphanet:124)

HPO phenotypes

125 total (30 of 125 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000028	Cryptorchidism
HP:0000041	Chordee
HP:0000047	Hypospadias
HP:0000062	Ambiguous genitalia
HP:0000089	Renal hypoplasia
HP:0000154	Wide mouth
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000280	Coarse facial features
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000325	Triangular face
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000400	Macrotia
HP:0000407	Sensorineural hearing impairment
HP:0000426	Prominent nasal bridge
HP:0000448	Prominent nose
HP:0000463	Anteverted nares
HP:0000499	Abnormal eyelash morphology
HP:0000508	Ptosis
HP:0000512	Abnormal electroretinogram
HP:0000520	Proptosis

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Air Pollutants	increases expression, affects cotreatment, decreases expression, increases abundance	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	decreases expression, increases abundance, affects cotreatment	1
decabromobiphenyl ether	affects expression	1
arsenite	affects binding, decreases reaction	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
nickel sulfate	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Cisplatin	affects cotreatment, decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Vanadates	decreases expression	1
Particulate Matter	increases abundance, increases expression	1
Volatile Organic Compounds	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	PHASE2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	PHASE2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	PHASE2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	PHASE2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
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
NCT01362595	PHASE1/PHASE2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	PHASE1/PHASE2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	PHASE1/PHASE2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
NCT03733249	PHASE1/PHASE2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT03966053	PHASE1/PHASE2	TERMINATED	The Use of Trifluoperazine in Transfusion Dependent DBA
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT01114776	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Pilot Study
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT01758042	Not specified	COMPLETED	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders
NCT01913548	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Survey Study (MCSIO)
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT07186179	Not specified	RECRUITING	Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)