HINFP

Summary

HINFP (histone H4 transcription factor, HGNC:17850) is a protein-coding gene on chromosome 11q23.3, encoding Histone H4 transcription factor (Q9BQA5). Transcriptional repressor that binds to the consensus sequence 5’-CGGACGTT-3’ and to the RB1 promoter. It is a common-essential gene (DepMap: required in 98.7% of cancer cell lines).

This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 25988 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 63 total
• Cancer dependency (DepMap): dependent in 98.7% of screened cell lines (common-essential)
• Transcription factor: yes — 10 downstream targets (CollecTRI)
• MANE Select transcript: NM_198971

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17850
Approved symbol	HINFP
Name	histone H4 transcription factor
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434F162, HiNF-P, ZNF743
Ensembl gene	ENSG00000172273
Ensembl biotype	protein_coding
OMIM	607099
Entrez	25988

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 23 protein_coding, 8 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000350777, ENST00000527206, ENST00000527354, ENST00000527410, ENST00000527755, ENST00000529354, ENST00000529610, ENST00000529808, ENST00000529988, ENST00000530678, ENST00000531022, ENST00000531360, ENST00000532312, ENST00000532860, ENST00000862570, ENST00000862571, ENST00000862572, ENST00000862573, ENST00000862574, ENST00000862575, ENST00000862576, ENST00000862577, ENST00000862578, ENST00000862579, ENST00000930224, ENST00000930226, ENST00000930227, ENST00000930228, ENST00000930229, ENST00000930230, ENST00000930231, ENST00000963222, ENST00000963223

RefSeq mRNA: 17 — MANE Select: NM_198971 NM_001243259, NM_001351957, NM_001351958, NM_001351959, NM_001351960, NM_001351961, NM_001351962, NM_001351963, NM_001351964, NM_001351965, NM_001351966, NM_001351969, NM_001351971, NM_001351972, NM_001351974, NM_015517, NM_198971

CCDS: CCDS58188, CCDS8414

Canonical transcript exons

ENST00000350777 — 10 exons

Exon	Start	End
ENSE00001195859	119121580	119121639
ENSE00002158806	119134084	119136059
ENSE00003480705	119131830	119131982
ENSE00003509545	119132496	119132573
ENSE00003538875	119126935	119127125
ENSE00003544912	119133095	119133219
ENSE00003583958	119132864	119133002
ENSE00003617216	119131535	119131646
ENSE00003628300	119130725	119130954
ENSE00003630669	119132661	119132781

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 93.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8587 / max 75.7450, expressed in 1782 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117096	8.8587	1782

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	93.41	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.33	gold quality
cerebellar cortex	UBERON:0002129	93.21	gold quality
granulocyte	CL:0000094	92.20	gold quality
cortical plate	UBERON:0005343	91.05	gold quality
cerebellum	UBERON:0002037	90.73	gold quality
mucosa of transverse colon	UBERON:0004991	90.51	gold quality
right lobe of thyroid gland	UBERON:0001119	90.46	gold quality
right uterine tube	UBERON:0001302	90.13	gold quality
left lobe of thyroid gland	UBERON:0001120	90.02	gold quality
transverse colon	UBERON:0001157	89.59	gold quality
right testis	UBERON:0004534	89.29	gold quality
left testis	UBERON:0004533	89.17	gold quality
metanephros cortex	UBERON:0010533	89.15	gold quality
ganglionic eminence	UBERON:0004023	89.13	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.05	gold quality
lower esophagus mucosa	UBERON:0035834	88.98	gold quality
adenohypophysis	UBERON:0002196	88.81	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.80	gold quality
left ovary	UBERON:0002119	88.77	gold quality
thyroid gland	UBERON:0002046	88.65	gold quality
right ovary	UBERON:0002118	88.58	gold quality
lower esophagus	UBERON:0013473	88.57	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.57	gold quality
skin of leg	UBERON:0001511	88.53	gold quality
minor salivary gland	UBERON:0001830	88.50	gold quality
right frontal lobe	UBERON:0002810	88.41	gold quality
body of uterus	UBERON:0009853	88.41	gold quality
ventricular zone	UBERON:0003053	88.32	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.40

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

10 targets.

Target	Regulation
CD44
CDK2
CHKA
EIF4G1
FGFR1
HINFP
MBD2	Repression
NPAT
PCSK9
RB1

JASPAR motifs

Motif	Name	Family
MA0131.1	HINFP	Factors with multiple dispersed zinc fingers
MA0131.2	HINFP	Factors with multiple dispersed zinc fingers
MA0131.3	HINFP	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:14752047

Upstream regulators (CollecTRI, top): CREBBP, E2F1, EP300, HINFP, SP1

miRNA regulators (miRDB)

33 targeting HINFP, 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-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-12130	99.75	65.47	452
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-4764-5P	98.88	65.53	894
HSA-MIR-6826-3P	98.19	66.32	1153
HSA-MIR-5007-5P	97.95	64.71	614
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-4286	97.20	64.37	1587
HSA-MIR-6748-3P	97.20	65.66	836
HSA-MIR-6836-3P	97.08	64.99	712
HSA-MIR-610	96.84	67.98	905
HSA-MIR-212-5P	96.83	67.43	950
HSA-MIR-3189-3P	96.80	66.34	896
HSA-MIR-6760-3P	96.35	68.31	1001
HSA-MIR-3170	95.84	64.32	721

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 10)

• purified and functionally characterized the critical transcription factor HiNF-P, which is required for E2F-independent activation of the histone H4 multigene family (PMID:14585971)
• These results suggest that transcriptional repression of Rb by MIZF could be one of the critical determinants in myogenic differentiation. (PMID:15541338)
• HiNF-P interacts directly with p220(NPAT) to coactivate histone genes during S phase. (PMID:15988025)
• the transcriptional silencing of the 14-3-3sigma gene is caused by promoter CpG island methylation associated with MBD2, which may play an important role in prostate cancer progression during the invasive and metastatic stages of the disease (PMID:16786000)
• These results suggest that RFP is a mediator connecting several MBD proteins and allowing the formation of a more potent transcriptional repressor complex. (PMID:17049487)
• HiNF-P is a bifunctional regulator of cell cycle controlled histone H4 gene transcription. (PMID:17163457)
• HiNF-P-dependent stabilization of p220NPAT reinforces signaling through the cyclin E/CDK2/p220NPAT pathway and contributes to coordinate control of histone gene expression. (PMID:17176114)
• HiNF-P/P220NPAT regulates expression of nonhistone targets that influence competency for cell cycle progression. (PMID:17974976)
• a novel HiNF-P-specific conserved region represents a DNA-binding determinant that plays a role in mediating histone gene expression during the cell cycle and defines HiNF-P as a cell cycle regulatory member of the zinc finger transcription factor family (PMID:18850719)
• Results suggest that cyclin-dependent kinase inhibitors selectively control stimulation of the histone H4 gene promoter by the p220(NPAT)/HiNF-P complex. (PMID:19170105)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	hinfp	ENSDARG00000004851
mus_musculus	Hinfp	ENSMUSG00000032119
rattus_norvegicus	Hinfp	ENSRNOG00000009499
drosophila_melanogaster	zfh1	FBGN0004606
caenorhabditis_elegans		WBGENE00000462
caenorhabditis_elegans		WBGENE00006970
caenorhabditis_elegans	hinf-1	WBGENE00009553

Protein

Protein identifiers

Histone H4 transcription factor — Q9BQA5 (reviewed: Q9BQA5)

Alternative names: Histone nuclear factor P, MBD2-interacting zinc finger protein, Methyl-CpG-binding protein 2-interacting zinc finger protein

All UniProt accessions (3): E9PJA3, E9PL67, Q9BQA5

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor that binds to the consensus sequence 5’-CGGACGTT-3’ and to the RB1 promoter. Transcriptional activator that promotes histone H4 gene transcription at the G1/S phase transition in conjunction with NPAT. Also activates transcription of the ATM and PRKDC genes. Autoregulates its expression by associating with its own promoter.

Subunit / interactions. Binds MBD2 and a histone deacetylase complex. Interacts with NPAT.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous. Highly expressed in brain, heart, skeletal muscle, spleen, kidney, small intestine, placenta and liver.

Post-translational modifications. Ubiquitinated. Ubiquitination may lead to proteasome-mediated degradation.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BQA5-1	1	yes
Q9BQA5-2	2

RefSeq proteins (17): NP_001230188, NP_001338886, NP_001338887, NP_001338888, NP_001338889, NP_001338890, NP_001338891, NP_001338892, NP_001338893, NP_001338894, NP_001338895, NP_001338898, NP_001338900, NP_001338901, NP_001338903, NP_056332, NP_945322* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051574	ZnF_E-box_Homeobox	Family

Pfam: PF00096, PF13894

UniProt features (22 total): zinc finger region 9, sequence variant 4, region of interest 3, splice variant 2, chain 1, compositionally biased region 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQA5-F1	72.26	0.25

Functional residue map

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

Mutagenesis-validated functional residues (1):

Position	Phenotype
381	abolishes dna-binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 170 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_MYOBLAST_DIFFERENTIATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_MITOTIC_CELL_CYCLE, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_SIGNAL_TRANSDUCTION_IN_RESPONSE_TO_DNA_DAMAGE, GOBP_CELL_CYCLE_CHECKPOINT_SIGNALING

GO Biological Process (16): DNA damage checkpoint signaling (GO:0000077), G1/S transition of mitotic cell cycle (GO:0000082), in utero embryonic development (GO:0001701), DNA repair (GO:0006281), DNA-templated transcription (GO:0006351), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), cell cycle G1/S phase transition (GO:0044843), establishment of protein localization (GO:0045184), myoblast differentiation (GO:0045445), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of transcription by RNA polymerase II (GO:0000122)

GO Molecular Function (14): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), 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 repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), enzyme binding (GO:0019899), histone binding (GO:0042393), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), Cajal body (GO:0015030)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	4
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
gene expression	3
DNA-templated transcription	3
regulation of gene expression	3
transcription by RNA polymerase II	3
regulation of transcription by RNA polymerase II	3
transcription cis-regulatory region binding	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
binding	2
protein binding	2
DNA integrity checkpoint signaling	1
signal transduction in response to DNA damage	1
mitotic cell cycle	1
mitotic cell cycle phase transition	1
cell cycle G1/S phase transition	1
chordate embryonic development	1
DNA metabolic process	1
DNA damage response	1
RNA biosynthetic process	1
regulation of RNA biosynthetic process	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
cell cycle phase transition	1
establishment of localization	1
cell differentiation	1
muscle structure development	1
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
negative regulation of DNA-templated transcription	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription repressor activity	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1

Protein interactions and networks

STRING

1056 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HINFP	NPAT	Q14207	729
HINFP	MECP2	P51608	677
HINFP	LSM10	Q969L4	635
HINFP	FOXC1	Q12948	560
HINFP	LTC4S	Q16873	554
HINFP	H4C16	P02304	510
HINFP	H4C7	Q99525	510
HINFP	NACC2	Q96BF6	497
HINFP	PPP1R26	Q5T8A7	497
HINFP	RB1	P06400	491
HINFP	FOXI1	Q12951	478
HINFP	LSM11	P83369	454
HINFP	RBL2	Q08999	449
HINFP	VANGL2	Q9ULK5	445
HINFP	E2F7	Q96AV8	443

IntAct

14 interactions, top by confidence:

A	B	Type	Score
MORN3	HINFP	psi-mi:“MI:0915”(physical association)	0.560
NDUFAB1	HINFP	psi-mi:“MI:0915”(physical association)	0.560
HINFP	TP53	psi-mi:“MI:0915”(physical association)	0.550
TP53	HINFP	psi-mi:“MI:0915”(physical association)	0.550
HINFP	TP53	psi-mi:“MI:0915”(physical association)	0.370
HSPB1	HINFP	psi-mi:“MI:0915”(physical association)	0.370
TRAF2	HINFP	psi-mi:“MI:0915”(physical association)	0.370
IHO1	HINFP	psi-mi:“MI:0915”(physical association)	0.370
HINFP	TRIM39	psi-mi:“MI:0915”(physical association)	0.370
NDUFAB1	HINFP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (61): HINFP (Affinity Capture-RNA), HINFP (Affinity Capture-RNA), HINFP (Affinity Capture-RNA), HINFP (Two-hybrid), HINFP (Affinity Capture-Western), ZBTB49 (Affinity Capture-Western), HINFP (Co-localization), CCDC36 (Two-hybrid), TRIM39 (Two-hybrid), TP53 (Two-hybrid), HINFP (Synthetic Lethality), HINFP (Two-hybrid), HINFP (Two-hybrid), HINFP (Reconstituted Complex), HINFP (Affinity Capture-Western)

ESM2 similar proteins: A8XW88, O04193, O62846, O64812, P03001, P05383, P17842, P21137, P22612, P31504, P31505, P31506, P31507, P34694, P34695, P49071, P68180, P68181, P68182, P79797, P80944, Q01777, Q01779, Q01789, Q01790, Q01792, Q01871, Q02029, Q02030, Q02031, Q02032, Q02033, Q02035, Q03042, Q1ECF5, Q25515, Q28BT8, Q29419, Q500W4, Q63484

Diamond homologs: P56670, Q2TBP2, Q8K1K9, Q8VDL9, Q9BQA5, Q9BZE0, Q9UPG8, Q9VAB8, P0CS62, P0CS63, P33400, P78978, P80944, Q00202, Q00203, Q01864, Q29419, Q4WY67, Q52B93, Q5XL24, Q6BSZ4, Q6CQ07, Q6FV94, Q6H8R9, Q753Y2, Q7RVQ8, Q870A3, Q873X0, Q873Y3, Q874A5, Q8J1U9, Q8J254, Q8J256, Q8J257, Q96UW0, Q96X49, Q9C1A4, Q9HFB3, Q9P413, Q9P8G9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2389 predictions. Top by Δscore:

Variant	Effect	Δscore
11:119130901:A:T	donor_gain	1.0000
11:119130963:G:GT	donor_gain	1.0000
11:119131826:CCA:C	acceptor_loss	1.0000
11:119131827:CA:C	acceptor_loss	1.0000
11:119131828:A:AG	acceptor_gain	1.0000
11:119131829:G:A	acceptor_loss	1.0000
11:119131829:G:GG	acceptor_gain	1.0000
11:119131829:GGCT:G	acceptor_gain	1.0000
11:119131978:GGATC:G	donor_gain	1.0000
11:119131979:GATC:G	donor_gain	1.0000
11:119131979:GATCG:G	donor_gain	1.0000
11:119131980:ATC:A	donor_gain	1.0000
11:119131981:TC:T	donor_gain	1.0000
11:119131981:TCGT:T	donor_loss	1.0000
11:119131982:CGT:C	donor_loss	1.0000
11:119131983:G:GG	donor_gain	1.0000
11:119131984:T:A	donor_loss	1.0000
11:119131987:G:GG	donor_gain	1.0000
11:119131997:G:GT	donor_gain	1.0000
11:119132659:A:AG	acceptor_gain	1.0000
11:119132659:AGT:A	acceptor_gain	1.0000
11:119132660:G:GA	acceptor_gain	1.0000
11:119132660:GT:G	acceptor_gain	1.0000
11:119132660:GTG:G	acceptor_gain	1.0000
11:119132660:GTGA:G	acceptor_gain	1.0000
11:119132857:AT:A	acceptor_gain	1.0000
11:119132858:T:G	acceptor_gain	1.0000
11:119132858:T:TA	acceptor_gain	1.0000
11:119132860:GCAGC:G	acceptor_loss	1.0000
11:119132861:CA:C	acceptor_loss	1.0000

AlphaMissense

3449 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:119132572:T:A	H251Q	1.000
11:119132572:T:G	H251Q	1.000
11:119132675:T:C	C257R	1.000
11:119132685:G:A	C260Y	1.000
11:119132723:C:G	H273D	1.000
11:119132725:C:A	H273Q	1.000
11:119132725:C:G	H273Q	1.000
11:119133159:T:C	L360P	1.000
11:119133171:T:C	L364P	1.000
11:119133216:T:C	F379S	1.000
11:119132510:T:A	C231S	0.999
11:119132510:T:C	C231R	0.999
11:119132511:G:C	C231S	0.999
11:119132512:T:G	C231W	0.999
11:119132531:T:C	F238L	0.999
11:119132533:T:A	F238L	0.999
11:119132533:T:G	F238L	0.999
11:119132550:T:C	L244S	0.999
11:119132553:G:C	R245P	0.999
11:119132558:C:G	H247D	0.999
11:119132560:C:A	H247Q	0.999
11:119132560:C:G	H247Q	0.999
11:119132564:C:A	R249S	0.999
11:119132565:G:C	R249P	0.999
11:119132570:C:A	H251N	0.999
11:119132570:C:G	H251D	0.999
11:119132570:C:T	H251Y	0.999
11:119132684:T:A	C260S	0.999
11:119132684:T:C	C260R	0.999
11:119132685:G:C	C260S	0.999

dbSNP variants (sampled 300 via entrez): RS1000141451 (11:119122848 C>T), RS1000217127 (11:119135469 A>G), RS1000320731 (11:119131293 T>G), RS1000492431 (11:119123076 C>A,G), RS1000726618 (11:119123050 C>G,T), RS1000793107 (11:119133811 A>G), RS1000872765 (11:119127800 T>C,G), RS1000925127 (11:119127428 T>A), RS1000954834 (11:119124897 G>A), RS1001214255 (11:119123389 T>C), RS1001265047 (11:119123160 G>A,C,T), RS1001554712 (11:119121350 C>A), RS1001670568 (11:119125389 A>G), RS1001857987 (11:119134991 T>C), RS1001911838 (11:119134609 G>A)

Disease associations

OMIM: gene MIM:607099 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, increases expression	2
Valproic Acid	increases expression, decreases expression, affects cotreatment	2
Cyclosporine	increases expression	2
aristolochic acid I	increases expression	1
deoxynivalenol	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	increases expression, affects cotreatment	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Urethane	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_AW24	K562 eGFP-HINFP	Cancer cell line	Female

Clinical trials (associated diseases)

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