DFFA

Summary

DFFA (DNA fragmentation factor subunit alpha, HGNC:2772) is a protein-coding gene on chromosome 1p36.22, encoding DNA fragmentation factor subunit alpha (O00273). Inhibitor of the caspase-activated DNase (DFF40).

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Source: NCBI Gene 1676 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 68 total
• MANE Select transcript: NM_004401

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2772
Approved symbol	DFFA
Name	DNA fragmentation factor subunit alpha
Location	1p36.22
Locus type	gene with protein product
Status	Approved
Aliases	DFF-45, DFF45, ICAD, DFF1
Ensembl gene	ENSG00000160049
Ensembl biotype	protein_coding
OMIM	601882
Entrez	1676

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000377036, ENST00000377038, ENST00000476658, ENST00000866602, ENST00000866603, ENST00000915601, ENST00000942858, ENST00000942859

RefSeq mRNA: 2 — MANE Select: NM_004401 NM_004401, NM_213566

CCDS: CCDS118, CCDS119

Canonical transcript exons

ENST00000377038 — 6 exons

Exon	Start	End
ENSE00001049444	10463058	10463209
ENSE00001178900	10472323	10472529
ENSE00001472587	10456522	10461702
ENSE00002751749	10469177	10469338
ENSE00002764057	10467190	10467332
ENSE00002938221	10463431	10463620

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 90.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.8322 / max 230.9802, expressed in 1807 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10260	22.4404	1797
10261	3.4070	1599
10262	0.7731	514
10259	0.2118	73

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	90.76	gold quality
inferior vagus X ganglion	UBERON:0005363	90.63	gold quality
nipple	UBERON:0002030	90.45	gold quality
globus pallidus	UBERON:0001875	90.16	gold quality
cardia of stomach	UBERON:0001162	88.84	gold quality
ventral tegmental area	UBERON:0002691	88.68	gold quality
cartilage tissue	UBERON:0002418	88.48	gold quality
stromal cell of endometrium	CL:0002255	88.43	gold quality
renal medulla	UBERON:0000362	88.36	gold quality
subthalamic nucleus	UBERON:0001906	88.18	gold quality
islet of Langerhans	UBERON:0000006	87.90	gold quality
cranial nerve II	UBERON:0000941	87.55	gold quality
pylorus	UBERON:0001166	87.06	gold quality
ventricular zone	UBERON:0003053	86.70	gold quality
pericardium	UBERON:0002407	86.66	gold quality
parotid gland	UBERON:0001831	86.62	gold quality
dorsal plus ventral thalamus	UBERON:0001897	86.27	gold quality
superior vestibular nucleus	UBERON:0007227	86.18	gold quality
lateral globus pallidus	UBERON:0002476	86.03	gold quality
substantia nigra pars reticulata	UBERON:0001966	85.54	gold quality
dorsal root ganglion	UBERON:0000044	85.51	gold quality
pons	UBERON:0000988	85.48	gold quality
left ventricle myocardium	UBERON:0006566	85.47	silver quality
cortical plate	UBERON:0005343	85.39	gold quality
ileal mucosa	UBERON:0000331	85.24	gold quality
smooth muscle tissue	UBERON:0001135	85.15	gold quality
adult mammalian kidney	UBERON:0000082	85.05	gold quality
ganglionic eminence	UBERON:0004023	85.01	gold quality
embryo	UBERON:0000922	84.92	gold quality
placenta	UBERON:0001987	84.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.05

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, MYCN

miRNA regulators (miRDB)

32 targeting DFFA, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-3152-3P	99.10	66.35	678
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-6890-3P	97.50	65.71	997
HSA-MIR-2467-5P	97.36	67.71	991
HSA-MIR-3907	96.76	65.04	662
HSA-MIR-664B-5P	96.74	67.50	509
HSA-MIR-3675-5P	95.90	65.80	474
HSA-MIR-6879-3P	93.93	64.00	759

Literature-anchored findings (GeneRIF, showing 23)

• DFF45 at chromosome 1 reveal rare allelic variants in neuroblastoma tumors (PMID:11870543)
• NMR solution structure of the C-terminal domain of DFF45, which is essential for its chaperone-like activity (PMID:12144788)
• Hypoxia-induced cleavage of caspase-3 and DFF45/ICAD in human failed cardiomyocytes. (PMID:12181128)
• subunit structures and stoichiometries in human cells before and after induction of apoptosis (PMID:12748178)
• Hepatitis C virus core protein increases a steady-state level of ICAD protein, possibly through enhancing its promoter activity (PMID:14675622)
• apoptotic DNA fragmentation factor is required for the maintenance of genetic stability and may play a role in tumor suppression (PMID:16432220)
• plays an important and P53-independent role in maintaining chromosome stability and suppressing tumor development (PMID:16619042)
• demonstrate the cellular mechanisms of neuronal cell degeneration induced via c-Jun-N-terminal kinases and caspase-dependent signaling (PMID:17645689)
• C-terminal region of each subunit, DFF40 (RLKRK) and DFF45 (KRAR), is essential for nuclear accumulation of the DFF complex. (PMID:17938174)
• Interestingly, nuclear DNA fragmentation occurred and consistently DNA fragmentation factor (DFF45)/Inhibitor of caspase-activated DNase (ICAD) was cleaved inside the cell as well as in vitro, suggesting a role of caspase-2 in nuclear DNA fragmentation. (PMID:17945178)
• The highest level of DFF45 endometrial expression was found during the early secretory cycle phase, and significantly lower DFF45 expression was found in the endometrium during the mid-secretory as compared to the early secretory cycle phase. (PMID:18292826)
• identified a TATA-less region upstream of the transcription start site as a basal promoter of the ICAD gene. An E-Box motif, which binds transcription factors of the basic helix-loop-helix/leucine zipper family, is responsible for transcriptional activity (PMID:18500556)
• MPP(+) did not change the total levels of c-Jun but enhanced phosphorylation of c-Jun at Ser73 and cleavage of DNA fragmentation factor 45, which were diminished by selegiline. (PMID:18805449)
• A decreased level of DFF45 observed in ovarian endometriosis may be a part of an apoptosis-resistant mechanism enhancing the disease progression. (PMID:19535198)
• The heterodimer, DFF40-DFF45, is localized to the chromatin fraction under apoptotic as well as non-apoptotic conditions. (PMID:19882353)
• study reveals a previously unrecognized function of miR-145 in DFF45 processing, which may underlie crucial aspects of cancer biology (PMID:20687965)
• The DFF45 level in human endometrium corresponds to the respective phase of the menstrual cycle and decreases significantly after menopause. (PMID:22378161)
• mRNA splicing is actively driven toward the pro-apoptotic isoforms of Bim, Bcl-x, and ICAD in Pnn-depleted MCF-7 cells. (PMID:22454513)
• ICAD deficiency was associated with severe genomic instability. (PMID:23451280)
• Data suggest that DFF45 gene silencing, when applied in combination with doxorubicin, may offer a therapeutic strategy for the treatment of breast cancer. (PMID:24277473)
• Data show that the caspase-activated DNase (CAD) is activated when caspases cleave its endogenous inhibitor ICAD, resulting in the characteristic DNA laddering of apoptosis. (PMID:26106156)
• Glandular, menopause-independent DFF40, DFF45, and Bcl-2 overexpression may play an important role in the pathogenesis of endometrial polyps and benign endometrial hyperplasia (PMID:28914671)
• evaluate the relative expression levels of miR-196a2 and three of its selected apoptosis-related targets; ANXA1, DFFA and PDCD4 in a sample of GI cancer patients (PMID:29091952)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dffa	ENSDARG00000055770
mus_musculus	Dffa	ENSMUSG00000028974
rattus_norvegicus	Dffa	ENSRNOG00000013603
drosophila_melanogaster	Drep1	FBGN0024732
drosophila_melanogaster	Drep3	FBGN0028407

Paralogs (3): CIDEB (ENSG00000136305), CIDEA (ENSG00000176194), CIDEC (ENSG00000187288)

Protein

Protein identifiers

DNA fragmentation factor subunit alpha — O00273 (reviewed: O00273)

Alternative names: DNA fragmentation factor 45 kDa subunit, Inhibitor of CAD

All UniProt accessions (2): O00273, K7ERT1

UniProt curated annotations — full annotation on UniProt →

Function. Inhibitor of the caspase-activated DNase (DFF40).

Subunit / interactions. Heterodimer of DFFA and DFFB.

Subcellular location. Cytoplasm.

Post-translational modifications. Caspase-3 cleaves DFF45 at 2 sites to generate an active factor.

Isoforms (2)

UniProt ID	Names	Canonical?
O00273-1	DFF45	yes
O00273-2	DFF35

RefSeq proteins (2): NP_004392, NP_998731 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003508	CIDE-N_dom	Domain
IPR015121	DNA_fragmentation_mid_dom	Domain
IPR017299	DFF45	Family
IPR027296	DFF-C	Homologous_superfamily

Pfam: PF02017, PF09033

UniProt features (17 total): helix 5, modified residue 3, site 2, splice variant 2, chain 1, domain 1, sequence conflict 1, turn 1, region of interest 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1IYR	SOLUTION NMR
1KOY	SOLUTION NMR
1IBX	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00273-F1	72.25	0.12

Functional residue map

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

Catalytic / active sites (2): 117–118 (cleavage; by caspase-3); 224–225 (cleavage; by caspase-3)

Post-translational modifications (3): 1, 243, 315

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-140342	Apoptosis induced DNA fragmentation

MSigDB gene sets: 191 (showing top): REACTOME_APOPTOSIS_INDUCED_DNA_FRAGMENTATION, BROWNE_HCMV_INFECTION_6HR_DN, GCM_ZNF198, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_HDAC2, GOBP_DNA_CATABOLIC_PROCESS, GCM_BCL2L1, GOBP_REGULATION_OF_CATABOLIC_PROCESS, MORF_PRKDC, BIOCARTA_HIVNEF_PATHWAY, GOBP_LEUKOCYTE_APOPTOTIC_PROCESS, FUJII_YBX1_TARGETS_DN, BIOCARTA_DEATH_PATHWAY, REACTOME_APOPTOSIS

GO Biological Process (10): apoptotic DNA fragmentation (GO:0006309), apoptotic process (GO:0006915), positive regulation of apoptotic process (GO:0043065), thymocyte apoptotic process (GO:0070242), negative regulation of execution phase of apoptosis (GO:1900118), negative regulation of apoptotic DNA fragmentation (GO:1902511), protein folding (GO:0006457), signal transduction (GO:0007165), obsolete negative regulation of deoxyribonuclease activity (GO:0032076), regulation of apoptotic process (GO:0042981)

GO Molecular Function (4): protein folding chaperone (GO:0044183), deoxyribonuclease inhibitor activity (GO:0060703), protein binding (GO:0005515), protein domain specific binding (GO:0019904)

GO Cellular Component (7): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), protein-containing complex (GO:0032991), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Apoptotic execution phase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
execution phase of apoptosis	2
apoptotic process	2
cellular process	2
DNA catabolic process	1
apoptotic nuclear changes	1
programmed cell death	1
apoptotic signaling pathway	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
T cell apoptotic process	1
negative regulation of apoptotic process	1
regulation of execution phase of apoptosis	1
apoptotic DNA fragmentation	1
regulation of apoptotic DNA fragmentation	1
negative regulation of DNA catabolic process	1
protein maturation	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
regulation of programmed cell death	1
molecular_function	1
protein folding	1
DNA nuclease activity	1
nuclease inhibitor activity	1
binding	1
protein binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
membrane	1
cell periphery	1
cellular_component	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

844 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DFFA	DFFB	O76075	999
DFFA	CIDEB	Q9UHD4	937
DFFA	CIDEC	Q96AQ7	916
DFFA	CASP3	P42574	826
DFFA	DNASE2	O00115	798
DFFA	ENDOG	Q14249	768
DFFA	CASP6	P55212	706
DFFA	PLIN1	O60240	645
DFFA	UCP1	P25874	628
DFFA	FAS	P25445	607
DFFA	CYCS	P00001	595
DFFA	CASP9	P55211	594
DFFA	CASP8	Q14790	582
DFFA	APAF1	O14727	582
DFFA	CASP14	P31944	569

IntAct

65 interactions, top by confidence:

A	B	Type	Score
DFFA	DFFB	psi-mi:“MI:0915”(physical association)	0.940
DFFA	DFFB	psi-mi:“MI:0407”(direct interaction)	0.940
DFFA	DFFB	psi-mi:“MI:0914”(association)	0.940
DFFB	DFFA	psi-mi:“MI:0914”(association)	0.940
DFFB	DFFA	psi-mi:“MI:0915”(physical association)	0.940
DFFA	YWHAG	psi-mi:“MI:0915”(physical association)	0.590
DFFA	YWHAZ	psi-mi:“MI:0915”(physical association)	0.590
LRRK2	DFFA	psi-mi:“MI:0914”(association)	0.530
HSPB1	DFFA	psi-mi:“MI:0915”(physical association)	0.510
DFFA	HSPB1	psi-mi:“MI:0915”(physical association)	0.510
DFFA	TSPYL4	psi-mi:“MI:0915”(physical association)	0.500
Dffb	DFFA	psi-mi:“MI:0407”(direct interaction)	0.440
DFFA	Dffb	psi-mi:“MI:0407”(direct interaction)	0.440
DFFA	EWSR1	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
PRNP	CARNS1	psi-mi:“MI:0914”(association)	0.350
PRNP	WDR91	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
ZDHHC5	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
PRKAA2	DFFA	psi-mi:“MI:0914”(association)	0.350

BioGRID (85): DFFA (Co-fractionation), DFFA (Affinity Capture-RNA), DFFA (Affinity Capture-RNA), TSPYL4 (Affinity Capture-MS), GNB4 (Affinity Capture-MS), DFFB (Affinity Capture-MS), NECAB2 (Two-hybrid), EWSR1 (Two-hybrid), DFFA (Two-hybrid), DFFA (Affinity Capture-Western), DFFA (Affinity Capture-MS), DFFA (Co-localization), DFFA (Affinity Capture-MS), DFFB (Affinity Capture-MS), TSPYL4 (Affinity Capture-MS)

ESM2 similar proteins: A2A3K4, A2AJ88, A4H5X5, A7E379, D3ZEF4, D3ZKV9, F1RD40, F4IVL6, O00273, O02811, O08662, O19132, O36371, O54825, O61608, P03177, P29475, P33802, P34335, P79290, Q13895, Q14999, Q1HVD1, Q28969, Q2PAY2, Q3KSQ2, Q4G017, Q4QHM7, Q5PQQ7, Q5R4R7, Q5RCJ3, Q6X4W1, Q75QN6, Q7TT23, Q80TL4, Q80TT8, Q80WL2, Q8BQ89, Q8BV79, Q8GX05

Diamond homologs: F1MN90, O00273, O54786, O60543, O70302, O70303, P56198, Q3T191, Q5XI33, Q96AQ7, Q9UHD4

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
“Caspase 3 complex”	“up-regulates activity”	DFFA	cleavage
DFFA	down-regulates	DFFB	binding
CASP3	“up-regulates activity”	DFFA	cleavage

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 42 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
Intrinsic Pathway for Apoptosis	6	67.6×	6e-08
Apoptosis	6	38.8×	7e-07
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	35.6×	7e-07
Programmed Cell Death	6	33.8×	7e-07
SARS-CoV-1 Infection	5	27.4×	2e-05
TP53 Regulates Metabolic Genes	5	25.0×	2e-05
SARS-CoV-2 Infection	5	15.5×	2e-04
Transcriptional Regulation by TP53	5	11.9×	7e-04

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein localization	5	14.1×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	7
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1093 predictions. Top by Δscore:

Variant	Effect	Δscore
1:10463084:G:C	donor_gain	1.0000
1:10463102:C:CA	donor_gain	1.0000
1:10463208:CT:C	acceptor_gain	1.0000
1:10463210:C:CC	acceptor_gain	1.0000
1:10463425:TCCTA:T	donor_loss	1.0000
1:10463426:CCTAC:C	donor_loss	1.0000
1:10463427:CTACC:C	donor_loss	1.0000
1:10463428:TAC:T	donor_loss	1.0000
1:10463429:ACC:A	donor_loss	1.0000
1:10463429:ACCTT:A	donor_gain	1.0000
1:10463430:CCTTC:C	donor_gain	1.0000
1:10463433:T:A	donor_gain	1.0000
1:10463511:T:TA	donor_gain	1.0000
1:10463616:AGCAT:A	acceptor_gain	1.0000
1:10463617:GCAT:G	acceptor_gain	1.0000
1:10463618:CAT:C	acceptor_gain	1.0000
1:10463618:CATC:C	acceptor_gain	1.0000
1:10463619:AT:A	acceptor_gain	1.0000
1:10463619:ATCTA:A	acceptor_loss	1.0000
1:10463621:C:CC	acceptor_gain	1.0000
1:10463622:T:C	acceptor_loss	1.0000
1:10467184:CTTTA:C	donor_loss	1.0000
1:10467185:TTTAC:T	donor_loss	1.0000
1:10467186:TTA:T	donor_loss	1.0000
1:10467187:TAC:T	donor_loss	1.0000
1:10467189:CCT:C	donor_loss	1.0000
1:10467329:CCAT:C	acceptor_gain	1.0000
1:10467330:CATC:C	acceptor_gain	1.0000
1:10467331:ATC:A	acceptor_loss	1.0000
1:10467333:C:CC	acceptor_gain	1.0000

AlphaMissense

2147 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:10469221:A:G	F85S	0.997
1:10469275:C:A	G67V	0.996
1:10469195:A:G	W94R	0.993
1:10469195:A:T	W94R	0.993
1:10469193:C:A	W94C	0.992
1:10469193:C:G	W94C	0.992
1:10469248:A:G	F76S	0.992
1:10469266:A:T	V70E	0.992
1:10469275:C:T	G67D	0.992
1:10469279:C:G	D66H	0.992
1:10469290:A:T	V62D	0.992
1:10469252:A:G	Y75H	0.991
1:10469277:A:C	D66E	0.991
1:10469277:A:T	D66E	0.991
1:10469278:T:G	D66A	0.990
1:10469221:A:C	F85C	0.987
1:10469278:T:A	D66V	0.987
1:10472334:A:G	L42P	0.987
1:10469248:A:C	F76C	0.986
1:10469239:A:G	L79P	0.985
1:10461698:A:T	V263D	0.983
1:10469287:A:G	L63P	0.983
1:10469247:A:C	F76L	0.982
1:10469247:A:T	F76L	0.982
1:10469249:A:G	F76L	0.982
1:10469251:T:C	Y75C	0.980
1:10469293:A:T	L61Q	0.980
1:10469266:A:C	V70G	0.978
1:10472352:G:T	A36D	0.978
1:10467261:A:G	W124R	0.977

dbSNP variants (sampled 300 via entrez): RS1000155281 (1:10457356 A>AGGTC), RS1000162386 (1:10460107 T>A,G), RS1000272447 (1:10465425 C>A), RS1000403393 (1:10460819 C>G,T), RS1000407027 (1:10472178 T>C,G), RS1000445357 (1:10460301 C>A,T), RS1000543774 (1:10456112 TAAAAAA>T,TA,TAAAA), RS1000727297 (1:10465168 C>T), RS1000763334 (1:10471270 T>C), RS1001638289 (1:10471798 C>T), RS1001683013 (1:10459692 G>A), RS1002062369 (1:10466269 C>T), RS1002063601 (1:10470910 A>C), RS1002089062 (1:10461260 C>A,T), RS1002134011 (1:10459417 C>A)

Disease associations

OMIM: gene MIM:601882 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005116_28	Male-pattern baldness	6.000000e-49
GCST006427_3	Depression in smokers	6.000000e-07
GCST006661_56	Male-pattern baldness	4.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

83 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, increases expression, affects expression	9
dracorhodin	increases cleavage	4
Paclitaxel	decreases expression, increases cleavage, affects cotreatment	4
sodium arsenite	increases abundance, increases expression, decreases expression	3
Tretinoin	affects cotreatment, increases cleavage, decreases expression	3
bisphenol A	decreases expression, increases expression	2
Resveratrol	decreases expression, increases expression	2
Arsenic Trioxide	affects binding, decreases reaction, increases expression	2
Arsenic	increases abundance, increases expression, affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Quercetin	increases expression	2
Particulate Matter	increases abundance, increases expression, affects expression, increases reaction	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression	1
VX-agent	increases expression	1
embelin	increases cleavage	1
arsenite	affects binding, increases reaction	1
parthenin	increases cleavage	1
4-hydroxy-2-nonenal	decreases expression	1
dianhydro-3,4-diacetylgalactitol	increases cleavage	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
shogaol	increases degradation	1
diallyl trisulfide	increases degradation	1
di-n-butylphosphoric acid	affects expression	1
usnic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
3-bromoacetylamino benzoic acid ethyl ester	increases cleavage	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	affects expression, increases reaction	1

Clinical trials (associated diseases)

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