ZNF703

Summary

ZNF703 (zinc finger protein 703, HGNC:25883) is a protein-coding gene on chromosome 8p11.23, encoding Zinc finger protein 703 (Q9H7S9). Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters.

Predicted to enable DNA-binding transcription factor binding activity and zinc ion binding activity. Involved in several processes, including cellular response to estradiol stimulus; positive regulation of mammary gland epithelial cell proliferation; and regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm and nuclear matrix. Part of protein-containing complex.

Source: NCBI Gene 80139 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 96 total
• MANE Select transcript: NM_025069

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25883
Approved symbol	ZNF703
Name	zinc finger protein 703
Location	8p11.23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14299, ZNF503L, NLZ1, Zpo1, ZEPPO1
Ensembl gene	ENSG00000183779
Ensembl biotype	protein_coding
OMIM	617045
Entrez	80139

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000331569

RefSeq mRNA: 1 — MANE Select: NM_025069 NM_025069

CCDS: CCDS6094

Canonical transcript exons

ENST00000331569 — 2 exons

Exon	Start	End
ENSE00001299932	37697145	37700019
ENSE00002102574	37695782	37696222

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 96.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.7013 / max 713.3296, expressed in 1682 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88422	34.9251	1637
88421	8.7762	1518

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	96.62	gold quality
nipple	UBERON:0002030	95.82	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.53	gold quality
gastrocnemius	UBERON:0001388	95.23	gold quality
body of tongue	UBERON:0011876	94.89	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.33	gold quality
muscle of leg	UBERON:0001383	94.00	gold quality
oviduct epithelium	UBERON:0004804	93.75	gold quality
popliteal artery	UBERON:0002250	93.26	gold quality
tibial artery	UBERON:0007610	93.26	gold quality
mucosa of transverse colon	UBERON:0004991	93.03	gold quality
pylorus	UBERON:0001166	92.45	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.45	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.42	gold quality
skin of abdomen	UBERON:0001416	92.38	gold quality
tongue	UBERON:0001723	92.24	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.24	gold quality
skeletal muscle tissue	UBERON:0001134	92.20	gold quality
aorta	UBERON:0000947	92.07	gold quality
urethra	UBERON:0000057	92.01	gold quality
descending thoracic aorta	UBERON:0002345	91.85	gold quality
trachea	UBERON:0003126	91.47	gold quality
endocervix	UBERON:0000458	91.45	gold quality
pharyngeal mucosa	UBERON:0000355	91.35	gold quality
quadriceps femoris	UBERON:0001377	91.32	gold quality
zone of skin	UBERON:0000014	91.18	gold quality
biceps brachii	UBERON:0001507	91.15	gold quality
vastus lateralis	UBERON:0001379	91.04	gold quality
skin of leg	UBERON:0001511	90.91	gold quality
transverse colon	UBERON:0001157	90.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	203.13
E-ANND-3	yes	6.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

115 targeting ZNF703, 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-4795-3P	100.00	74.62	4024
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3529-3P	99.90	73.55	3045

Literature-anchored findings (GeneRIF, showing 20)

• Data show that FGFR1 and DDHD2 at 8p12 cooperated functionally with MYC, whereas CCND1 and ZNF703 cooperated with a dominant negative form of TP53. (PMID:19330026)
• ZNF703 expression results in the activation of stem cell-related gene expression leading to an increase in cancer stem cells. (PMID:21328542)
• These data strongly point to ZNF703 as a novel oncogene in Luminal B breast cancer. (PMID:21337521)
• The conserved domains are essential for proper subcellular localization and transcriptional repression of the NLZ1/ZNF703 protein. (PMID:22886885)
• Data indicate that ZNF703 overexpression in MCF-7 breast cancer cells activated the Akt/mTOR signaling pathway, downregulated ERalpha, and reduced the antitumor effect of tamoxifen. (PMID:23991038)
• High expression of ZNF703 independent of amplification indicates worse prognosis in patients with luminal B breast cancer. (PMID:24156016)
• The results showed that ZNF703 acts as a gastric cancer oncogene (PMID:24481460)
• Results show that ZNF703 expression is upregulated in colorectal cancer tissues (CRC) and is significantly correlated with tumor size, pathological grading, and serosal and lymph node metastasis suggesting that it may act as an oncogene in CRC. (PMID:25017610)
• ZNF703 was a target of SPRY4-IT1. (PMID:25742952)
• Results show that ZNF703 overexpression is associated with adverse prognosis in head and neck squamous cell carcinomas, which might be a novel biomarker for this type of neoplasm. (PMID:26063961)
• In vitro function assays demonstrated that SPRY4-IT1 cause promotion of cell viability in ESCC cells. Authors further verified that SPRY4-IT1 could also activate the expression of ZNF703 in ESCC cells, which might contribute to the role of SPRY4-IT1 in ESCC cells. (PMID:27453415)
• Results show that ZNF703 is up-regulated in 63.4% of non-small cell lung cancer (NSCLC) tumor samples and it may contribute to tumor development by activating the Akt/mTOR pathway in NSCLC. (PMID:27650486)
• ZNF703 can potently facilitate tumor growth and metastasis in many respects throughout the progression of CCA, which may act as an oncogene in CCA and can be considered as a novel potential therapeutic target. (PMID:27764785)
• ZNF703 is Overexpressed in Papillary Thyroid Carcinoma Tissues and Mediates K1 Cell Proliferation. (PMID:30361900)
• ZNF703 may have potential as a therapeutic target. (PMID:30362321)
• ZNF703 is an important player in head and neck cancer. (PMID:31574205)
• Zinc finger protein 703 induces EMT and sorafenib resistance in hepatocellular carcinoma by transactivating CLDN4 expression. (PMID:32269215)
• Transcription factor ZNF703 activates linc-UBC1 to stimulate the progression of glioma. (PMID:32271436)
• ZNF703 promotes tumor progression in ovarian cancer by interacting with HE4 and epigenetically regulating PEA15. (PMID:33246486)
• ZNF703 gene copy number and protein expression in breast cancer; associations with proliferation, prognosis and luminal subtypes. (PMID:33389351)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf703	ENSDARG00000035563
mus_musculus	Zfp703	ENSMUSG00000085795
rattus_norvegicus	Zfp703	ENSRNOG00000014199
drosophila_melanogaster	elB	FBGN0004858
drosophila_melanogaster	noc	FBGN0005771
caenorhabditis_elegans		WBGENE00006580

Paralogs (1): ZNF503 (ENSG00000165655)

Protein

Protein identifiers

Zinc finger protein 703 — Q9H7S9 (reviewed: Q9H7S9)

Alternative names: Zinc finger elbow-related proline domain protein 1

All UniProt accessions (1): Q9H7S9

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters. Regulates cell adhesion, migration and proliferation. May be required for segmental gene expression during hindbrain development.

Subunit / interactions. Interacts with TLE4; increases transcriptional repression. Interacts with DCAF7 and PHB2. May interact with HSPD1.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in mammary epithelium.

Disease relevance. Luminal B breast cancers are the clinically more aggressive estrogen receptor-positive tumors. Amplification of a distal 8p12 locus occurs in around one third of the cases and ZNF703 is the single gene within the minimal amplicon. Amplification of the gene correlates with its protein expression in tumor cells. ZNF703 is a classical breast cancer oncogene since it is able to transform non-malignant cells and increase cellular proliferation.

Induction. Up-regulated by 17-beta-estradiol.

Similarity. Belongs to the Elbow/Noc family.

RefSeq proteins (1): NP_079345* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR022129	Tscrpt_rep_NocA-like	Family
IPR051520	Elbow/Noc_ZnFinger	Family

Pfam: PF12402

UniProt features (17 total): compositionally biased region 8, modified residue 3, region of interest 3, initiator methionine 1, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H7S9-F1	51.00	0.03

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 (3): 2, 252, 580

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 249 (showing top): GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_MAMMARY_GLAND_EPITHELIAL_CELL_PROLIFERATION, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, GOBP_CELLULAR_RESPONSE_TO_LIPID, SP3_Q3, GOBP_MAMMARY_GLAND_EPITHELIUM_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_MAMMARY_GLAND_EPITHELIAL_CELL_DIFFERENTIATION, CERVERA_SDHB_TARGETS_1_DN, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND

GO Biological Process (13): regulation of DNA-templated transcription (GO:0006355), positive regulation of cell population proliferation (GO:0008284), positive regulation of epithelial to mesenchymal transition (GO:0010718), regulation of transforming growth factor beta receptor signaling pathway (GO:0017015), positive regulation of cell migration (GO:0030335), positive regulation of mammary gland epithelial cell proliferation (GO:0033601), negative regulation of homotypic cell-cell adhesion (GO:0034111), adherens junction assembly (GO:0034333), negative regulation of DNA-templated transcription (GO:0045892), regulation of cell cycle (GO:0051726), mammary gland epithelial cell differentiation (GO:0060644), regulation of canonical Wnt signaling pathway (GO:0060828), cellular response to estradiol stimulus (GO:0071392)

GO Molecular Function (4): zinc ion binding (GO:0008270), DNA-binding transcription factor binding (GO:0140297), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), nuclear matrix (GO:0016363), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
positive regulation of multicellular organismal process	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
positive regulation of cell differentiation	1
transforming growth factor beta receptor signaling pathway	1
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
regulation of cellular response to transforming growth factor beta stimulus	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
mammary gland epithelial cell proliferation	1
regulation of mammary gland epithelial cell proliferation	1
positive regulation of epithelial cell proliferation	1
positive regulation of developmental process	1
negative regulation of cell-cell adhesion	1
homotypic cell-cell adhesion	1
regulation of homotypic cell-cell adhesion	1
cell-cell junction assembly	1
adherens junction organization	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
cell cycle	1
regulation of cellular process	1
epithelial cell differentiation	1
mammary gland epithelium development	1
regulation of Wnt signaling pathway	1
canonical Wnt signaling pathway	1
response to estradiol	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
transition metal ion binding	1
transcription factor binding	1

Protein interactions and networks

STRING

784 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF703	FGFR1	P11362	684
ZNF703	ERLIN2	O94905	613
ZNF703	PLPBP	O94903	605
ZNF703	PLPP5	Q8NEB5	573
ZNF703	RAB11FIP1	Q6WKZ4	489
ZNF703	ZNF217	O75362	471
ZNF703	DCAF7	P61962	449
ZNF703	ADGRA2	Q96PE1	447
ZNF703	ERBB2	P04626	433
ZNF703	LSM1	O15116	431
ZNF703	DDHD2	O94830	431
ZNF703	TEP1	Q99973	422
ZNF703	NSD3	Q9BZ95	419
ZNF703	CCND1	P24385	401
ZNF703	PIK3CA	P42336	398

IntAct

104 interactions, top by confidence:

A	B	Type	Score
DCAF7	ZNF703	psi-mi:“MI:0403”(colocalization)	0.870
HSPA8	GAK	psi-mi:“MI:0914”(association)	0.760
DCAF7	DIAPH1	psi-mi:“MI:0914”(association)	0.730
TEPSIN	AP4M1	psi-mi:“MI:0914”(association)	0.700
FAM136A	RBFOX3	psi-mi:“MI:0914”(association)	0.640
HOXA1	ZNF703	psi-mi:“MI:0915”(physical association)	0.590
MFHAS1	PGRMC2	psi-mi:“MI:0914”(association)	0.590
DCAF7	PFDN6	psi-mi:“MI:0914”(association)	0.570
HAO2	EIF4G3	psi-mi:“MI:0914”(association)	0.530
TCEAL1	CHEK1	psi-mi:“MI:0914”(association)	0.530
SBSPON	ZNF609	psi-mi:“MI:0914”(association)	0.530
TEKT3	CLUH	psi-mi:“MI:0914”(association)	0.530
BAG4	DNAJC13	psi-mi:“MI:0914”(association)	0.530
VSX2	USP12	psi-mi:“MI:0914”(association)	0.530
MSX2	ANKRD40	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
TIGD5	P4HA2	psi-mi:“MI:0914”(association)	0.530
ELSPBP1	PFDN1	psi-mi:“MI:0914”(association)	0.530

BioGRID (140): ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS), ZNF703 (Affinity Capture-MS)

ESM2 similar proteins: A2VE44, A7YY54, O00268, O00287, O35274, O35779, O75398, O77562, O77638, O88450, O95644, P12755, P15066, P17535, P17544, P22670, P48377, P52909, P78424, Q07916, Q13469, Q14863, Q3UR85, Q5R9C9, Q60591, Q69Z61, Q6R891, Q6T4P5, Q86YP4, Q8BJI4, Q8CHY6, Q8CIE2, Q8NF64, Q8R0S1, Q8R3B7, Q8TEK3, Q8VCG9, Q8VHR5, Q8WXI9, Q96N64

Diamond homologs: P0CL69, Q05AQ8, Q24423, Q2VPM4, Q566L4, Q6UFS5, Q7TMA2, Q7ZWN6, Q90ZE2, Q96F45, Q9H7S9, Q9VJS8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 122 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.

GO biological processes:

GO term	Partners	Fold	FDR
inner ear morphogenesis	5	14.3×	3e-03
cell fate commitment	5	14.1×	3e-03
anatomical structure morphogenesis	8	10.6×	2e-04
protein folding	10	9.8×	6e-05

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	91
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

188 predictions. Top by Δscore:

Variant	Effect	Δscore
8:37696177:G:GT	donor_gain	0.9900
8:37696219:TGAG:T	donor_loss	0.9900
8:37696221:AGG:A	donor_loss	0.9900
8:37696223:G:T	donor_loss	0.9900
8:37696224:T:G	donor_loss	0.9900
8:37697133:T:TA	acceptor_gain	0.9900
8:37697140:CACA:C	acceptor_loss	0.9900
8:37697141:ACAG:A	acceptor_loss	0.9900
8:37697142:CA:C	acceptor_loss	0.9900
8:37697143:A:AG	acceptor_gain	0.9900
8:37697143:AGCT:A	acceptor_gain	0.9900
8:37697143:AGCTG:A	acceptor_gain	0.9900
8:37697144:G:GT	acceptor_gain	0.9900
8:37697144:GC:G	acceptor_gain	0.9900
8:37697144:GCT:G	acceptor_gain	0.9900
8:37697144:GCTG:G	acceptor_gain	0.9900
8:37697144:GCTGG:G	acceptor_gain	0.9900
8:37696821:GAA:G	donor_gain	0.9800
8:37697142:C:G	acceptor_gain	0.9800
8:37697127:T:TA	acceptor_gain	0.9700
8:37697141:A:AG	acceptor_gain	0.9500
8:37696134:TCCTG:T	donor_gain	0.9400
8:37696820:GGAA:G	donor_gain	0.9300
8:37696801:G:GT	donor_gain	0.9200
8:37696823:A:AG	donor_gain	0.9200
8:37697146:T:A	acceptor_gain	0.9200
8:37696343:GGC:G	donor_gain	0.9100
8:37696822:A:T	donor_gain	0.9000
8:37696823:A:G	donor_gain	0.8900
8:37697133:T:A	acceptor_loss	0.8900

AlphaMissense

3703 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:37697149:A:T	D83V	1.000
8:37697160:A:C	S87R	1.000
8:37697161:G:T	S87I	1.000
8:37697162:C:A	S87R	1.000
8:37697162:C:G	S87R	1.000
8:37697163:C:A	P88T	1.000
8:37697163:C:T	P88S	1.000
8:37697164:C:A	P88H	1.000
8:37697164:C:G	P88R	1.000
8:37697164:C:T	P88L	1.000
8:37697167:T:C	L89S	1.000
8:37697167:T:G	L89W	1.000
8:37697168:G:C	L89F	1.000
8:37697168:G:T	L89F	1.000
8:37697169:G:C	A90P	1.000
8:37697173:T:A	L91Q	1.000
8:37697173:T:C	L91P	1.000
8:37697176:T:A	L92Q	1.000
8:37697176:T:C	L92P	1.000
8:37697176:T:G	L92R	1.000
8:37697178:G:C	A93P	1.000
8:37697179:C:A	A93D	1.000
8:37697182:A:C	Q94P	1.000
8:37697184:A:C	T95P	1.000
8:37697185:C:T	T95I	1.000
8:37697187:T:A	C96S	1.000
8:37697187:T:C	C96R	1.000
8:37697187:T:G	C96G	1.000
8:37697188:G:A	C96Y	1.000
8:37697188:G:C	C96S	1.000

dbSNP variants (sampled 300 via entrez): RS1000393554 (8:37697947 G>A,C), RS1000764521 (8:37697716 CCGA>C), RS1000870254 (8:37695006 C>T), RS1001797882 (8:37697325 C>A), RS1001801392 (8:37695381 A>C), RS1002039638 (8:37699071 C>G), RS1002100390 (8:37696493 C>G), RS1002166524 (8:37697630 C>A), RS1003573142 (8:37695417 C>A), RS1004102810 (8:37700345 G>A,T), RS1004436969 (8:37700003 A>G), RS1004479407 (8:37700270 G>A,T), RS1004643875 (8:37694905 G>T), RS1005054795 (8:37694657 G>A,C), RS1005308390 (8:37696985 C>T)

Disease associations

OMIM: gene MIM:617045 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001585_3	Breast size	2.000000e-14
GCST002932_37	Manganese levels	4.000000e-06
GCST003124_28	Mild influenza (H1N1) infection	1.000000e-09
GCST003985_8	Breast size	7.000000e-31
GCST006655_9	Breast size	1.000000e-08
GCST010118_160	Type 2 diabetes	2.000000e-10
GCST010118_161	Type 2 diabetes	2.000000e-11
GCST010244_118	Triglyceride levels	1.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs79707182	ZNF703		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
Estradiol	affects cotreatment, increases expression	3
bisphenol A	increases expression	2
trichostatin A	affects cotreatment, increases expression	2
(+)-JQ1 compound	decreases expression, increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
urushiol	decreases expression	1
afimoxifene	decreases reaction, increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, increases expression	1
prothioconazole	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Amiodarone	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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