ZNF281

Summary

ZNF281 (zinc finger protein 281, HGNC:13075) is a protein-coding gene on chromosome 1q32.1, encoding Zinc finger protein 281 (Q9Y2X9). Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation.

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of gene expression; negative regulation of transcription by RNA polymerase II; and positive regulation of DNA-templated transcription. Located in nucleoplasm.

Source: NCBI Gene 23528 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 105 total
• MANE Select transcript: NM_001281293

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13075
Approved symbol	ZNF281
Name	zinc finger protein 281
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	ZBP-99
Ensembl gene	ENSG00000162702
Ensembl biotype	protein_coding
OMIM	618703
Entrez	23528

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000294740, ENST00000367352, ENST00000367353, ENST00000890708, ENST00000890709

RefSeq mRNA: 3 — MANE Select: NM_001281293 NM_001281293, NM_001281294, NM_012482

CCDS: CCDS1402, CCDS60384

Canonical transcript exons

ENST00000367353 — 2 exons

Exon	Start	End
ENSE00001444302	200404951	200409723
ENSE00001444303	200409946	200410036

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 98.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.2514 / max 295.0369, expressed in 1778 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16572	10.1678	1761
16571	2.1104	1006
16573	0.8906	600
16570	0.0824	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.71	gold quality
oocyte	CL:0000023	98.45	gold quality
endothelial cell	CL:0000115	96.94	gold quality
cerebellar vermis	UBERON:0004720	93.16	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.77	gold quality
trabecular bone tissue	UBERON:0002483	92.38	gold quality
buccal mucosa cell	CL:0002336	92.08	gold quality
inferior vagus X ganglion	UBERON:0005363	91.61	gold quality
visceral pleura	UBERON:0002401	91.05	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.76	gold quality
germinal epithelium of ovary	UBERON:0001304	90.25	gold quality
bone element	UBERON:0001474	90.09	gold quality
bone marrow	UBERON:0002371	90.01	gold quality
stromal cell of endometrium	CL:0002255	89.16	gold quality
corpus callosum	UBERON:0002336	89.08	gold quality
parietal pleura	UBERON:0002400	88.85	gold quality
subthalamic nucleus	UBERON:0001906	88.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.11	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.06	gold quality
pleura	UBERON:0000977	88.06	gold quality
ventral tegmental area	UBERON:0002691	87.55	gold quality
biceps brachii	UBERON:0001507	87.52	gold quality
globus pallidus	UBERON:0001875	87.35	gold quality
entorhinal cortex	UBERON:0002728	87.22	gold quality
cortical plate	UBERON:0005343	87.18	gold quality
medial globus pallidus	UBERON:0002477	86.89	gold quality
substantia nigra pars reticulata	UBERON:0001966	86.68	gold quality
lateral globus pallidus	UBERON:0002476	86.63	gold quality
middle temporal gyrus	UBERON:0002771	86.62	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	86.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.67

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

5 targets.

Target	Regulation
ADAM2
NANOG	Unknown
ODC1
VIM
ZNF281

JASPAR motifs

Motif	Name	Family
MA1630.2	ZNF281	More than 3 adjacent zinc fingers
MA1630.3	ZNF281	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:19443739

Upstream regulators (CollecTRI, top): NR1I2, SNAI1, ZNF281

miRNA regulators (miRDB)

163 targeting ZNF281, 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-8485	100.00	77.57	4731
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-8082	99.95	67.27	1170

Literature-anchored findings (GeneRIF, showing 12)

• High ZNF281 expression is associated with colon and breast cancer. (PMID:24185900)
• involvement of ZNF281 in the cellular response to genotoxic stress through the control exercised on the expression of genes that act in different repair mechanisms (PMID:26300006)
• These observations suggest that ZNF281 is a controller of neuronal differentiation that should be evaluated as a prognostic marker in neuroblastoma. (PMID:29941555)
• Data indicate transcription factor ZNF281 as a player of intestinal inflammation and fibrosis, and in the pathogenetic mechanisms underlying inflammatory bowel disease. (PMID:30619271)
• ZNF281 mRNA and protein levels were significantly increased in colorectal cancer (CRC) tissues compared with normal colon tissues, and high ZNF281 expression was associated with advanced T stage, N stage, TNM stage and differentiation. Therefore, ZNF281 expression might be an independent prognostic indicator in CRC patients. (PMID:31112017)
• Analyses indicated that circAGFG1 acts as a sponge for miR-203 to repress the effect of miR-203 on its target, ZNF281. In conclusion, study suggests that circAGFG1 promotes NSCLC growth and metastasis though a circAGFG1/miR-203/ZNF281 axis. (PMID:31243884)
• ZNF281 is recruited on DNA breaks to facilitate DNA repair by non-homologous end joining. (PMID:31570788)
• ZNF281/Zfp281 is a target of miR-1 and counteracts muscle differentiation. (PMID:31782884)
• LncRNA-ZNF281 Interacts with miR-539 to Promote Hepatocellular Carcinoma Cell Invasion and Migration. (PMID:32073896)
• Cervical carcinoma progression is aggravated by lncRNA ZNF281 by binding KLF15. (PMID:34604953)
• ZNF281 Promotes Colon Fibroblast Activation in TGFbeta1-Induced Gut Fibrosis. (PMID:36142169)
• Cancer-associated fibroblasts facilitate premetastatic niche formation through lncRNA SNHG5-mediated angiogenesis and vascular permeability in breast cancer. (PMID:36438499)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf281a	ENSDARG00000000567
danio_rerio	znf281b	ENSDARG00000035910
mus_musculus	Zfp281	ENSMUSG00000041483
rattus_norvegicus	Zfp281	ENSRNOG00000058643

Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), PRDM14 (ENSG00000147596), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)

Protein

Protein identifiers

Zinc finger protein 281 — Q9Y2X9 (reviewed: Q9Y2X9)

Alternative names: GC-box-binding zinc finger protein 1, Transcription factor ZBP-99, Zinc finger DNA-binding protein 99

All UniProt accessions (1): Q9Y2X9

UniProt curated annotations — full annotation on UniProt →

Function. Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation. Required for ESCs differentiation and acts by mediating autorepression of NANOG in ESCs: binds to the NANOG promoter and promotes association of NANOG protein to its own promoter and recruits the NuRD complex, which deacetylates histones. Not required for establishement and maintenance of ESCs. Represses the transcription of a number of genes including GAST, ODC1 and VIM. Binds to the G-rich box in the enhancer region of these genes.

Subcellular location. Nucleus.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2X9-1	1	yes
Q9Y2X9-2	2

RefSeq proteins (3): NP_001268222, NP_001268223, NP_036614 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050826	Krueppel_C2H2_ZnFinger	Family

Pfam: PF00096

UniProt features (61 total): cross-link 30, region of interest 7, compositionally biased region 7, modified residue 6, zinc finger region 4, sequence conflict 4, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2X9-F1	47.22	0.04

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 (36): 395, 484, 651, 785, 807, 888, 2, 101, 128, 213, 219, 225, 232, 242, 259, 301, 325, 373, 409, 416 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 295 (showing top): GOBP_BODY_MORPHOGENESIS, CMYB_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, MUELLER_PLURINET, CATTTCA_MIR203, FOSTER_TOLERANT_MACROPHAGE_UP, KMCATNNWGGA_UNKNOWN, CAATGCA_MIR33, AFP1_Q6, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, GOBP_EMBRYO_DEVELOPMENT, BOYAULT_LIVER_CANCER_SUBCLASS_G12_UP

GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), embryonic body morphogenesis (GO:0010172), negative regulation of gene expression (GO:0010629), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), stem cell differentiation (GO:0048863), cell differentiation (GO:0030154)

GO Molecular Function (11): transcription cis-regulatory region binding (GO:0000976), 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 factor activity (GO:0003700), zinc ion binding (GO:0008270), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	3
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of transcription by RNA polymerase II	2
regulation of gene expression	2
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
regulation of RNA biosynthetic process	1
body morphogenesis	1
embryonic morphogenesis	1
gene expression	1
negative regulation of macromolecule biosynthetic process	1
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
cell differentiation	1
cellular developmental process	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 factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
transition metal ion binding	1
DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

910 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF281	POU5F1	P31359	722
ZNF281	GATA4	P43694	641
ZNF281	NANOG	Q9H9S0	608
ZNF281	MYC	P01106	556
ZNF281	CTNNB1	P35222	555
ZNF281	ZNF830	Q96NB3	478
ZNF281	RELA	Q04206	465
ZNF281	NPM1	P06748	436
ZNF281	CREB1	P16220	436
ZNF281	OR5M8	Q8NGP6	370
ZNF281	SOX4	Q06945	302
ZNF281	ALX1	Q15699	301
ZNF281	ARL4A	P40617	296
ZNF281	BMI1	P35226	279
ZNF281	NTMT2	Q5VVY1	267

IntAct

200 interactions, top by confidence:

A	B	Type	Score
STAG1	RAD21	psi-mi:“MI:0914”(association)	0.930
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
MED19	MED19	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
NFIC	NFIB	psi-mi:“MI:2364”(proximity)	0.690
LPXN	PCNT	psi-mi:“MI:0914”(association)	0.640
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
ZNF281		psi-mi:“MI:0915”(physical association)	0.560
ZNF281	PMP22	psi-mi:“MI:0915”(physical association)	0.560
ZNF281	OPTN	psi-mi:“MI:0915”(physical association)	0.560
HTT	ZNF281	psi-mi:“MI:0915”(physical association)	0.560
TUBB3	POTEF	psi-mi:“MI:0914”(association)	0.530
BCOR	CBX4	psi-mi:“MI:0914”(association)	0.530
FBL	ZNF316	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
SKP2	DPYSL4	psi-mi:“MI:0914”(association)	0.530
SV2A	EXTL3	psi-mi:“MI:0914”(association)	0.530

BioGRID (226): ZNF281 (Affinity Capture-RNA), ZNF281 (Affinity Capture-MS), ZNF281 (Affinity Capture-MS), ZNF281 (Affinity Capture-MS), ZNF281 (Affinity Capture-MS), ZNF281 (Two-hybrid), ZNF281 (Two-hybrid), PRCC (Affinity Capture-MS), TAP2 (Affinity Capture-MS), KCNAB2 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), MAGED2 (Affinity Capture-MS), KIF21B (Affinity Capture-MS), ZNF281 (Affinity Capture-MS), ZNF281 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTH6, A0A1S3C4H6, A0A338P6K9, A2RRX6, A6NCI8, B9FXV5, C7IW64, E9QAT4, O13658, O14029, O14269, O60187, O74808, P0C9Z7, P15822, P48415, P80074, P86273, Q10076, Q14207, Q196W1, Q2KHR3, Q3V0A6, Q3Y4E1, Q4JK59, Q5DTW7, Q5R782, Q5Z8V7, Q61624, Q62806, Q66IN2, Q6AYN3, Q6CM10, Q6N021, Q6YXY2, Q76E23, Q76KD6, Q8BMA5, Q8K4L6, Q8NEV8

Diamond homologs: A0MS83, Q3Y4E1, Q5R782, Q61624, Q62806, Q6NZQ6, Q8NDX6, Q99LI5, Q9UQR1, Q9Y2X9, P56670, Q96N77

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
GSK3B	“down-regulates quantity by destabilization”	ZNF281	phosphorylation
FBXW11	“down-regulates quantity by destabilization”	ZNF281	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 206 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
Deactivation of the beta-catenin transactivating complex	6	10.0×	4e-03
Interleukin-4 and Interleukin-13 signaling	9	6.6×	2e-03
Cell Cycle, Mitotic	12	4.1×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
neuron fate specification	5	19.3×	8e-04
positive regulation of miRNA transcription	9	14.4×	4e-06
somatic stem cell population maintenance	9	12.3×	1e-05
positive regulation of interleukin-10 production	5	11.0×	7e-03
cartilage development	7	9.7×	1e-03
positive regulation of transcription initiation by RNA polymerase II	6	9.0×	5e-03
transcription by RNA polymerase II	15	5.8×	1e-05
chromatin remodeling	12	4.8×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	98
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

218 predictions. Top by Δscore:

Variant	Effect	Δscore
1:200409940:ACTT:A	donor_loss	1.0000
1:200409941:CTTA:C	donor_loss	1.0000
1:200409942:TT:T	donor_loss	1.0000
1:200409943:TACGG:T	donor_loss	1.0000
1:200409944:A:AC	donor_gain	1.0000
1:200409944:A:T	donor_loss	1.0000
1:200409945:C:CC	donor_gain	1.0000
1:200409945:CG:C	donor_gain	1.0000
1:200409945:CGG:C	donor_gain	1.0000
1:200409945:CGGG:C	donor_gain	1.0000
1:200409945:CGGGT:C	donor_gain	1.0000
1:200409939:TACTT:T	donor_loss	0.9900
1:200409940:A:AC	donor_gain	0.9700
1:200409941:C:CC	donor_gain	0.9700
1:200405166:CTTA:C	acceptor_gain	0.9500
1:200409942:TTACG:T	donor_gain	0.8800
1:200409937:AATAC:A	donor_gain	0.8700
1:200409938:ATACT:A	donor_gain	0.8700
1:200409939:TAC:T	donor_gain	0.8700
1:200409940:ACT:A	donor_gain	0.8700
1:200409941:CTTAC:C	donor_gain	0.8700
1:200409943:T:G	donor_gain	0.8700
1:200409944:A:C	donor_gain	0.8700
1:200409720:CTGG:C	acceptor_gain	0.8400
1:200409936:CAATA:C	donor_gain	0.8400
1:200409945:C:G	donor_gain	0.8400
1:200409929:C:T	donor_gain	0.8200
1:200409942:T:C	donor_gain	0.7800
1:200409559:AC:A	donor_gain	0.7600
1:200409560:CC:C	donor_gain	0.7600

AlphaMissense

5931 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:200408639:C:A	R356M	1.000
1:200408644:A:C	F354L	1.000
1:200408644:A:T	F354L	1.000
1:200408645:A:G	F354S	1.000
1:200408646:A:G	F354L	1.000
1:200408656:G:C	C350W	1.000
1:200408658:A:G	C350R	1.000
1:200408667:A:G	C347R	1.000
1:200408689:A:C	H339Q	1.000
1:200408689:A:T	H339Q	1.000
1:200408691:G:C	H339D	1.000
1:200408701:G:C	H335Q	1.000
1:200408701:G:T	H335Q	1.000
1:200408703:G:C	H335D	1.000
1:200408728:A:C	F326L	1.000
1:200408728:A:T	F326L	1.000
1:200408729:A:G	F326S	1.000
1:200408730:A:G	F326L	1.000
1:200408751:A:G	C319R	1.000
1:200408755:A:C	F317L	1.000
1:200408755:A:T	F317L	1.000
1:200408757:A:G	F317L	1.000
1:200408785:A:C	H307Q	1.000
1:200408785:A:T	H307Q	1.000
1:200408787:G:C	H307D	1.000
1:200408787:G:T	H307N	1.000
1:200408788:T:A	R306S	1.000
1:200408788:T:G	R306S	1.000
1:200408795:A:G	L304P	1.000
1:200408798:A:G	L303P	1.000

dbSNP variants (sampled 300 via entrez): RS1000843075 (1:200411588 T>C), RS1000957341 (1:200411324 A>G), RS1001188172 (1:200406340 T>A,G), RS1001387309 (1:200406085 C>T), RS1001947943 (1:200411123 A>G), RS1002020270 (1:200412017 G>A), RS1002172057 (1:200405932 C>T), RS1002330481 (1:200405578 T>C), RS1002990498 (1:200409156 C>T), RS1003046124 (1:200411541 A>G), RS1003351815 (1:200410210 A>G), RS1003381543 (1:200410018 T>C,G), RS1004175986 (1:200407070 C>T), RS1004240070 (1:200409743 G>C), RS1006316634 (1:200404734 T>C)

Disease associations

OMIM: gene MIM:618703 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003997_37	Myopia	3.000000e-17
GCST008830_1	Neurofibrillary tangles	9.000000e-06
GCST009312_12	Antisaccade task score	3.000000e-06
GCST009313_4	Prepulse inhibition of the startle response	3.000000e-06
GCST010002_373	Refractive error	1.000000e-52

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006797	neurofibrillary tangles measurement
EFO:0007969	cognitive inhibition measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	increases sumoylation	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
geraniol	increases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases sumoylation	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Vehicle Emissions	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Estradiol	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methylcholanthrene	affects binding, increases reaction	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A8G5	SEES3-1V human ZNF281, clone1	Embryonic stem cell	Male
CVCL_A8G6	SEES3-1V human ZNF281, clone2	Embryonic stem cell	Male
CVCL_A8G7	SEES3-1V human ZNF281, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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