NFYB

Summary

NFYB (nuclear transcription factor Y subunit beta, HGNC:7805) is a protein-coding gene on chromosome 12q23.3, encoding Nuclear transcription factor Y subunit beta (P25208). Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5’-CCAAT-3’ box motif found in the promoters of its target genes. It is a selective cancer dependency (DepMap: 78.7% of cell lines).

The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants.

Source: NCBI Gene 4801 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 20 total
• Cancer dependency (DepMap): dependent in 78.7% of screened cell lines
• Transcription factor: yes — 44 downstream targets (CollecTRI)
• MANE Select transcript: NM_006166

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7805
Approved symbol	NFYB
Name	nuclear transcription factor Y subunit beta
Location	12q23.3
Locus type	gene with protein product
Status	Approved
Aliases	CBF-A, HAP3, NF-YB
Ensembl gene	ENSG00000120837
Ensembl biotype	protein_coding
OMIM	189904
Entrez	4801

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 17 protein_coding, 2 retained_intron

ENST00000240055, ENST00000550189, ENST00000550881, ENST00000551446, ENST00000551727, ENST00000872791, ENST00000872792, ENST00000872793, ENST00000872794, ENST00000872795, ENST00000933653, ENST00000933654, ENST00000933655, ENST00000933656, ENST00000933657, ENST00000933658, ENST00000968501, ENST00000968502, ENST00000968503

RefSeq mRNA: 16 — MANE Select: NM_006166 NM_001414518, NM_001414519, NM_001414520, NM_001414521, NM_001414522, NM_001414523, NM_001414524, NM_001414525, NM_001414526, NM_001414527, NM_001414528, NM_001414529, NM_001414530, NM_001414531, NM_001414532, NM_006166

CCDS: CCDS9098

Canonical transcript exons

ENST00000240055 — 8 exons

Exon	Start	End
ENSE00000922958	104128424	104128517
ENSE00000937933	104121240	104121321
ENSE00001104711	104120400	104120479
ENSE00001104713	104117086	104119769
ENSE00002340677	104138141	104138210
ENSE00003563343	104126114	104126244
ENSE00003600353	104135448	104135532
ENSE00003630417	104123226	104123423

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 97.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.5187 / max 432.6813, expressed in 1796 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132995	13.7770	1709
132994	3.1574	1349
132992	1.9738	1064
132996	1.8818	1107
132993	1.2233	699
132997	0.3257	142
132991	0.1797	81

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	97.34	gold quality
calcaneal tendon	UBERON:0003701	97.15	gold quality
ventricular zone	UBERON:0003053	96.79	gold quality
endothelial cell	CL:0000115	96.23	gold quality
right coronary artery	UBERON:0001625	96.15	gold quality
seminal vesicle	UBERON:0000998	96.07	gold quality
left coronary artery	UBERON:0001626	95.98	gold quality
popliteal artery	UBERON:0002250	95.97	gold quality
tibial artery	UBERON:0007610	95.97	gold quality
descending thoracic aorta	UBERON:0002345	95.81	gold quality
coronary artery	UBERON:0001621	95.75	gold quality
aorta	UBERON:0000947	95.51	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.36	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.35	gold quality
embryo	UBERON:0000922	95.09	gold quality
right lung	UBERON:0002167	95.07	gold quality
thoracic aorta	UBERON:0001515	94.96	gold quality
ascending aorta	UBERON:0001496	94.83	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.76	gold quality
lower esophagus	UBERON:0013473	94.74	gold quality
middle temporal gyrus	UBERON:0002771	94.68	gold quality
spinal cord	UBERON:0002240	94.53	gold quality
mucosa of stomach	UBERON:0001199	94.28	gold quality
right adrenal gland	UBERON:0001233	94.07	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.01	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.96	gold quality
right atrium auricular region	UBERON:0006631	93.89	gold quality
left adrenal gland	UBERON:0001234	93.87	gold quality
pericardium	UBERON:0002407	93.87	gold quality
corpus callosum	UBERON:0002336	93.80	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7606	no	1133.12
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

44 targets.

Target	Regulation
ABCB1	Unknown
ABI3
ABO	Unknown
ACTB	Unknown
ADAM2
ATP1A3
CCND2	Activation
CD74
CDC25B
CDKN1B	Activation
CIITA
COL11A1	Unknown
COL1A2	Unknown
COL5A3	Unknown
CYC1	Unknown
FAS	Unknown
FOS	Unknown
FXR2	Activation
GATA4	Activation
GCH1	Activation
GFI1B	Unknown
HBB	Unknown
HLA-E
HOXB7	Unknown
HSPA1A	Activation
HSPA1B	Activation
IER5
IGFBP1
IL10	Activation
IL4	Repression

JASPAR motifs

Motif	Name	Family
MA0502.1	NFYB	Heteromeric CCAAT-binding
MA0502.2	NFYB	Heteromeric CCAAT-binding
MA0502.3	NFYB	Heteromeric CCAAT-binding

JASPAR matrix evidence (PMIDs): PMID:9334236

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 78.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 22)

• The NF-YB/NF-YC structure gives insight into DNA binding and transcription regulation by CCAAT factor NF-Y. (PMID:12401788)
• p300 binds to multiple NF-Y trimers to regulate cyclin B2 promoter function (PMID:12482752)
• CBF/NF-Y proteins regulate the transcription of COL11A1 by directly binding to the ATTGG sequence in the proximal promoter region (PMID:12805369)
• Histone deacetylase inhibitors can induce Gadd45 through its promoter without the need for functional p53, and both Oct-1 and NF-Y concertedly participate in trichostatin A-induced activation of the gadd45 promoter. (PMID:14586402)
• p53 negatively regulates Chk2 gene transcription through modulation of NF-Y function and that this regulation may be important for reentry of cells into the cell cycle after DNA damage is repaired. (PMID:15044452)
• Co-operative functional interactions between Sp1 & NF-Y are required to direct the activity of the ATP1A3 promoter predominantly in neuronal cells. (PMID:15462673)
• trichostatin A activates the transcription of TSP1 gene through the binding of transcription factor CBF to CCAAT box and the enhanced histone acetylation. (PMID:18275041)
• CBF-A is a novel transacting factor required for cytoplasmic mRNA transport and localization (PMID:18480411)
• MicroRNA-485-3p regulates drug responsiveness by decreasing nuclear factor-YB expression, which in turn negatively regulates DNA topoisomerase IIalpha. (PMID:21252292)
• NF-Y acts upstream of H3K4me3 deposition by recruiting Ash2L (PMID:21445285)
• Transcriptional repression mediated by IER5 regulates Cdc25B expression levels via the release of NF-YB and p300 in acute myeloid leukemia. (PMID:22132193)
• The crystal structure of NF-Y bound to a 25 bp CCAAT oligonucleotide shows that the histone-fold domains dimer binds to the DNA sugar-phosphate backbone, mimicking the nucleosome H2A/H2B-DNA assembly; NF-YA both binds to NF-YB/NF-YC and inserts an alpha helix deeply into the DNA minor groove, providing sequence-specific contacts to the CCAAT box. (PMID:23332751)
• The NF-Y complex is asymmetric, with NF-YB binding approximately 15 bp downstream from the CCAAT motif. (PMID:23595228)
• NF-YB transcription factor was identified as a novel direct E2F1 target. (PMID:26039627)
• Presence of NF-Y transcription factor plays a pivotal role in transcriptional regulation of ID genes in development. (PMID:26509926)
• Data indicate that specific cancer-driving nodes are generally under NF-YA/B control. (PMID:26646448)
• The nuclear transcription factor Y subunit beta (NFYB)-E2F transcription factor 1 (E2F1) pathway displays a crucial role in the chemoresistance ofoxaliplatin-resistant colorectal cancer (OR-CRC) by inducing the expression and activation of checkpoint kinase 1 (CHK1), suggesting a possible therapeutic target for oxaliplatin resistance in CRC. (PMID:29203250)
• NFYB potentiates STK33 activation to promote cisplatin resistance in diffuse large B-cell lymphoma. (PMID:34536775)
• Over-expression of NFYB affects stromal cells reprogramming and predicts worse survival in gastric cancer patients. (PMID:36152055)
• Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1 and Regulate Doxorubicin Resistance in Lymphoma Cells. (PMID:36434485)
• NFYB increases chemosensitivity in glioblastoma by promoting HDAC5-mediated transcriptional inhibition of SHMT2. (PMID:37742129)
• Unraveling the intricacies of glioblastoma progression and recurrence: insights into the role of NFYB and oxidative phosphorylation at the single-cell level. (PMID:38510250)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nfyba	ENSDARG00000039185
danio_rerio	nfybb	ENSDARG00000045611
mus_musculus	Nfyb	ENSMUSG00000020248
rattus_norvegicus	Nfyb	ENSRNOG00000010309
drosophila_melanogaster	Nf-YB	FBGN0032816

Paralogs (2): DR1 (ENSG00000117505), FAM47E (ENSG00000189157)

Protein

Protein identifiers

Nuclear transcription factor Y subunit beta — P25208 (reviewed: P25208)

Alternative names: CAAT box DNA-binding protein subunit B, Nuclear transcription factor Y subunit B

All UniProt accessions (2): P25208, F8VSL3

UniProt curated annotations — full annotation on UniProt →

Function. Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5’-CCAAT-3’ box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors.

Subunit / interactions. Heterotrimeric transcription factor composed of three components, NF-YA, NF-YB and NF-YC. NF-YB and NF-YC must interact and dimerize for NF-YA association and DNA binding. Interacts with C1QBP.

Subcellular location. Nucleus.

Post-translational modifications. Monoubiquitination at Lys-140 plays an important role in transcriptional activation by allowing the deposition of histone H3 methylations as well as histone H2B monoubiquitination at ‘Lys-121’.

Domain organisation. Can be divided into 3 domains: the weakly conserved A domain, the highly conserved B domain thought to be involved in subunit interaction and DNA binding, and the Glu-rich C domain.

Similarity. Belongs to the NFYB/HAP3 subunit family.

RefSeq proteins (16): NP_001401447, NP_001401448, NP_001401449, NP_001401450, NP_001401451, NP_001401452, NP_001401453, NP_001401454, NP_001401455, NP_001401456, NP_001401457, NP_001401458, NP_001401459, NP_001401460, NP_001401461, NP_006157* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003956	Transcrpt_fac_NFYB/HAP3_CS	Conserved_site
IPR003958	CBFA_NFYB_domain	Domain
IPR009072	Histone-fold	Homologous_superfamily
IPR027113	Transc_fact_NFYB/HAP3	Family

Pfam: PF00808

UniProt features (18 total): helix 5, region of interest 5, turn 2, chain 1, DNA-binding region 1, strand 1, compositionally biased region 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
8QU4	X-RAY DIFFRACTION	1.38
8QU3	X-RAY DIFFRACTION	1.41
8QU2	X-RAY DIFFRACTION	1.45
4CSR	X-RAY DIFFRACTION	1.5
1N1J	X-RAY DIFFRACTION	1.67
9R4D	X-RAY DIFFRACTION	1.7
6QMS	X-RAY DIFFRACTION	1.8
6QMP	X-RAY DIFFRACTION	2
6QMQ	X-RAY DIFFRACTION	2.5
7AH8	X-RAY DIFFRACTION	2.7
4AWL	X-RAY DIFFRACTION	3.08

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P25208-F1	70.40	0.44

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 (1): 140

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1989781	PPARA activates gene expression
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)
R-HSA-380994	ATF4 activates genes in response to endoplasmic reticulum stress
R-HSA-381183	ATF6 (ATF6-alpha) activates chaperone genes
R-HSA-9614657	FOXO-mediated transcription of cell death genes

MSigDB gene sets: 261 (showing top): REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, WANG_CLIM2_TARGETS_UP, MORF_MSH3, GOBP_RESPONSE_TO_PEPTIDE, TTTGTAG_MIR520D, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, AAAYRNCTG_UNKNOWN, ATGTTAA_MIR302C, PUJANA_CHEK2_PCC_NETWORK, GAZDA_DIAMOND_BLACKFAN_ANEMIA_PROGENITOR_DN, MORF_PPP5C, MORF_FANCG, FISCHER_G2_M_CELL_CYCLE, OCT1_06

GO Biological Process (5): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription by RNA polymerase II (GO:0045944), cellular response to leukemia inhibitory factor (GO:1990830), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (10): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein heterodimerization activity (GO:0046982), DNA-binding transcription factor binding (GO:0140297), transcription cis-regulatory region binding (GO:0000976), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (7): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), CCAAT-binding factor complex (GO:0016602), protein-DNA complex (GO:0032993), RNA polymerase II transcription regulator complex (GO:0090575), transcription regulator complex (GO:0005667)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Regulation of lipid metabolism by PPARalpha	1
Regulation of cholesterol biosynthesis by SREBP (SREBF)	1
PERK regulates gene expression	1
ATF6 (ATF6-alpha) activates chaperones	1
FOXO-mediated transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
cellular anatomical structure	2
protein-containing complex	2
regulation of gene expression	1
regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
positive regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
protein dimerization activity	1
transcription factor binding	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
binding	1
DNA binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
RNA polymerase II transcription regulator complex	1
transcription regulator complex	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

1796 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NFYB	NFYA	P23511	999
NFYB	NFYC	Q13952	999
NFYB	REPIN1	Q9BWE0	983
NFYB	HAP1	P54257	886
NFYB	RFX5	P48382	809
NFYB	CEBPZ	Q03701	771
NFYB	MYC	P01106	714
NFYB	TBP	P20226	711
NFYB	CHRAC1	Q9NRG0	702
NFYB	RFXANK	O14593	698
NFYB	USF2	Q15853	634
NFYB	EGR1	P18146	618
NFYB	ZHX1	Q9UKY1	614
NFYB	RFXAP	O00287	584
NFYB	FOS	P01100	582

IntAct

82 interactions, top by confidence:

A	B	Type	Score
NFYB	NFYC	psi-mi:“MI:0407”(direct interaction)	0.870
NFYB	NFYC	psi-mi:“MI:0915”(physical association)	0.870
NFYC	NFYA	psi-mi:“MI:0914”(association)	0.850
NFYA	NFYB	psi-mi:“MI:0915”(physical association)	0.840
NFYB	NFYA	psi-mi:“MI:0915”(physical association)	0.840
NFYA	NFYB	psi-mi:“MI:0914”(association)	0.840
POLE4	NFYB	psi-mi:“MI:0915”(physical association)	0.720
NFYB	POLE4	psi-mi:“MI:0915”(physical association)	0.720
DRAP1	NFYB	psi-mi:“MI:0915”(physical association)	0.670
NFYB	NFYA	psi-mi:“MI:0914”(association)	0.670
NFYA	NFYB	psi-mi:“MI:0915”(physical association)	0.670
NFYB	NFYC	psi-mi:“MI:0915”(physical association)	0.670
NFYB	DRAP1	psi-mi:“MI:0915”(physical association)	0.670
AGTRAP	NFYB	psi-mi:“MI:0915”(physical association)	0.560
NFYB	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
NFYB	TP53	psi-mi:“MI:0914”(association)	0.560
NFYB	MEOX2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (90): NFYB (Two-hybrid), DRAP1 (Two-hybrid), POLE4 (Two-hybrid), AGTRAP (Two-hybrid), NFYB (Reconstituted Complex), NFYB (Affinity Capture-Western), DRAP1 (Two-hybrid), CORO1B (Co-fractionation), LAGE3 (Co-fractionation), NFYB (Co-fractionation), NFYB (Co-fractionation), NFYB (Co-fractionation), NFYB (Co-fractionation), POLE4 (Two-hybrid), NFYA (Affinity Capture-MS)

ESM2 similar proteins: A0A097I2D0, A0A1W2PP81, A0A1W2PPE2, A0A1W2PPH5, A0A1W2PPL8, A0A1W2PPW3, A0A1W2PQ09, A0A1W2PR64, A0A1W2PRV1, A6NLC8, O04027, O23310, O74807, O82248, P0DW11, P0DW12, P0DW13, P0DW14, P13434, P25207, P25208, P25209, P25210, P36611, P40096, P40284, P40914, P63139, P63140, Q15544, Q32KW0, Q5M8Q2, Q5QMG3, Q5RA91, Q5U1X0, Q60EQ4, Q65XK1, Q67XJ2, Q6CHS6, Q6FXD0

Diamond homologs: B0Y0F3, O04027, O14348, O17286, O23310, O82248, P13434, P25207, P25208, P25209, P25210, P36611, P40914, P49592, P63139, P63140, Q01658, Q0J7P4, Q32KW0, Q4WFF8, Q54WV0, Q55DJ5, Q5QMG3, Q5XI68, Q5ZMV3, Q60EQ4, Q65XK1, Q67XJ2, Q69J40, Q6BIP4, Q6RG77, Q75IZ7, Q84W66, Q8VYK4, Q91WV0, Q92317, Q9FGJ3, Q9SFD8, Q9SIT9, Q9SLG0

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
RNF4	“up-regulates activity”	NFYB	binding
NFYB	“up-regulates quantity by expression”	GCH1	“transcriptional regulation”
NFYB	“up-regulates quantity by expression”	GFI1B	“transcriptional regulation”
NFYB	“up-regulates quantity by expression”	SOX18	“transcriptional regulation”
NFYB	“up-regulates quantity by expression”	PHGDH	“transcriptional regulation”
NFYB	“form complex”	NFY	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	11
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1338 predictions. Top by Δscore:

Variant	Effect	Δscore
12:104118836:CAAT:C	acceptor_gain	1.0000
12:104118839:T:TC	acceptor_gain	1.0000
12:104120476:TTAG:T	acceptor_gain	1.0000
12:104120477:TAG:T	acceptor_gain	1.0000
12:104120480:C:CC	acceptor_gain	1.0000
12:104120480:CTAA:C	acceptor_loss	1.0000
12:104121234:GCTT:G	donor_loss	1.0000
12:104121235:CTTA:C	donor_loss	1.0000
12:104121236:TTA:T	donor_loss	1.0000
12:104121237:TACT:T	donor_loss	1.0000
12:104121238:A:AC	donor_gain	1.0000
12:104121238:ACTA:A	donor_loss	1.0000
12:104121239:C:A	donor_loss	1.0000
12:104121239:C:CA	donor_gain	1.0000
12:104121239:CT:C	donor_gain	1.0000
12:104121239:CTA:C	donor_gain	1.0000
12:104121239:CTAA:C	donor_gain	1.0000
12:104121239:CTAAA:C	donor_gain	1.0000
12:104121241:AAATG:A	donor_gain	1.0000
12:104121242:AATG:A	donor_gain	1.0000
12:104121245:G:A	donor_gain	1.0000
12:104121248:T:TA	donor_gain	1.0000
12:104121269:AGT:A	donor_gain	1.0000
12:104121269:AGTC:A	donor_gain	1.0000
12:104121318:TAGC:T	acceptor_gain	1.0000
12:104121320:GC:G	acceptor_gain	1.0000
12:104121321:CC:C	acceptor_gain	1.0000
12:104121321:CCTGA:C	acceptor_loss	1.0000
12:104121322:C:A	acceptor_loss	1.0000
12:104121322:C:CC	acceptor_gain	1.0000

AlphaMissense

1383 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:104123229:T:A	R142S	1.000
12:104123229:T:G	R142S	1.000
12:104123230:C:A	R142I	1.000
12:104123230:C:G	R142T	1.000
12:104123242:A:G	L138P	1.000
12:104123254:A:G	L134P	1.000
12:104123274:A:C	F127L	1.000
12:104123274:A:T	F127L	1.000
12:104123275:A:G	F127S	1.000
12:104123276:A:C	F127V	1.000
12:104123276:A:G	F127L	1.000
12:104123276:A:T	F127I	1.000
12:104123278:C:A	G126V	1.000
12:104123278:C:T	G126D	1.000
12:104123279:C:A	G126C	1.000
12:104123279:C:G	G126R	1.000
12:104123281:A:G	L125S	1.000
12:104123288:A:G	S123P	1.000
12:104123290:A:C	M122R	1.000
12:104123290:A:T	M122K	1.000
12:104123293:G:A	A121V	1.000
12:104123293:G:T	A121D	1.000
12:104123294:C:G	A121P	1.000
12:104123294:C:T	A121T	1.000
12:104123295:A:C	F120L	1.000
12:104123295:A:T	F120L	1.000
12:104123297:A:G	F120L	1.000
12:104123299:A:G	L119P	1.000
12:104123299:A:T	L119H	1.000
12:104123302:A:C	I118S	1.000

dbSNP variants (sampled 300 via entrez): RS1000084724 (12:104121885 A>C), RS1000114938 (12:104131252 T>C), RS1000193172 (12:104117348 C>T), RS1000222079 (12:104129166 G>A), RS1000225745 (12:104117683 T>C), RS1000228852 (12:104137561 T>A), RS1000390244 (12:104125310 G>C), RS1000690573 (12:104123531 T>C), RS1000759767 (12:104125112 A>G), RS1000827262 (12:104130534 A>G), RS1000915822 (12:104124327 T>C), RS1001182583 (12:104119181 A>C,G), RS1001215332 (12:104119644 C>A,G,T), RS1001331275 (12:104137355 T>A,C), RS1001363629 (12:104126428 T>C)

Disease associations

OMIM: gene MIM:189904 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002671_12	Toenail selenium levels	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	6
Tretinoin	affects cotreatment, increases expression, decreases expression	4
Cyclosporine	decreases expression	3
bisphenol A	decreases expression, affects cotreatment, increases expression	2
trichostatin A	decreases expression, affects cotreatment	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
geraniol	decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
sodium arsenite	affects cotreatment, increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
coptisine	decreases expression, affects binding, decreases reaction	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
tamibarotene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, decreases expression	1
Cocaine	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4P4	SEES3-1V human NFYB, clone1	Embryonic stem cell	Male
CVCL_A4P5	SEES3-1V human NFYB, clone2	Embryonic stem cell	Male
CVCL_A4P6	SEES3-1V human NFYB, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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