ZFP57

Summary

ZFP57 (ZFP57 zinc finger protein, HGNC:18791) is a protein-coding gene on chromosome 6p22.1, encoding Zinc finger protein 57 homolog (Q9NU63). Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation.

The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).

Source: NCBI Gene 346171 — RefSeq curated summary.

At a glance

• Gene–disease (curated): diabetes mellitus, transient neonatal, 1 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 17
• Clinical variants (ClinVar): 158 total — 10 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 25
• MANE Select transcript: NM_001109809

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18791
Approved symbol	ZFP57
Name	ZFP57 zinc finger protein
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	ZNF698, bA145L22, bA145L22.2
Ensembl gene	ENSG00000204644
Ensembl biotype	protein_coding
OMIM	612192
Entrez	346171

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000376883, ENST00000488757, ENST00000931172, ENST00000964026

RefSeq mRNA: 2 — MANE Select: NM_001109809 NM_001109809, NM_001366333

CCDS: CCDS43436, CCDS93878

Canonical transcript exons

ENST00000376883 — 5 exons

Exon	Start	End
ENSE00001601732	29681062	29681152
ENSE00001611320	29672483	29673758
ENSE00001681903	29675386	29675487
ENSE00001707798	29675933	29676059
ENSE00001749936	29676881	29677366

Expression profiles

Bgee: expression breadth ubiquitous, 112 present calls, max score 89.36.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5573 / max 158.1405, expressed in 130 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72474	0.5573	130

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.36	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	86.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.31	gold quality
substantia nigra	UBERON:0002038	79.51	gold quality
Ammon’s horn	UBERON:0001954	75.65	gold quality
putamen	UBERON:0001874	74.20	gold quality
amygdala	UBERON:0001876	73.94	gold quality
temporal lobe	UBERON:0001871	73.71	gold quality
hypothalamus	UBERON:0001898	68.30	gold quality
primary visual cortex	UBERON:0002436	66.74	gold quality
caudate nucleus	UBERON:0001873	66.37	gold quality
Brodmann (1909) area 9	UBERON:0013540	65.49	gold quality
placenta	UBERON:0001987	64.60	gold quality
nucleus accumbens	UBERON:0001882	64.59	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	64.30	gold quality
lower esophagus mucosa	UBERON:0035834	64.06	gold quality
cerebral cortex	UBERON:0000956	62.78	gold quality
right atrium auricular region	UBERON:0006631	62.55	gold quality
right frontal lobe	UBERON:0002810	62.52	gold quality
anterior cingulate cortex	UBERON:0009835	61.51	gold quality
brain	UBERON:0000955	60.38	gold quality
heart	UBERON:0000948	60.27	gold quality
heart left ventricle	UBERON:0002084	59.39	gold quality
frontal cortex	UBERON:0001870	58.49	gold quality
smooth muscle tissue	UBERON:0001135	58.19	gold quality
apex of heart	UBERON:0002098	57.66	gold quality
right coronary artery	UBERON:0001625	55.94	gold quality
lymph node	UBERON:0000029	55.41	gold quality
prefrontal cortex	UBERON:0000451	55.26	gold quality
superior frontal gyrus	UBERON:0002661	54.44	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.74

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
KDM3A
TCL1A

JASPAR motifs

Motif	Name	Family
MA1583.1	ZFP57	Factors with multiple dispersed zinc fingers
MA1583.2	ZFP57	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:30602440

miRNA regulators (miRDB)

3 targeting ZFP57, 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-873-5P	98.84	66.90	1348
HSA-MIR-1910-5P	97.42	66.36	844
HSA-MIR-4264	96.35	64.76	1480

Literature-anchored findings (GeneRIF, showing 16)

• Study reports mutations in ZFP57, which encodes a zinc-finger transcription factor expressed in early development, in seven pedigrees with a shared pattern of mosaic hypomethylation and a conserved range of clinical features. (PMID:18622393)
• this study does not provide evidence that ZFP57 mutations are the cause of 11p15-hypomethylation in Silver-Russell syndrome (SRS) patients and contribute to the aetiology of SRS (PMID:19632365)
• no evidence for ZFP57 alterations as a major cause in sporadic Beckwith-Wiedemann Syndrome cases (PMID:21863059)
• hZFP57 mutations and hypomethylation of the TNDM1 imprinted control region both associated with Transient Neonatal Diabetes Mellitus type 1 result in loss of hZFP57 binding to the TNDM1 locus. (PMID:23499433)
• Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. (PMID:23748067)
• Mouse and human ZFP57 are orthologs despite relatively low sequence identity. (PMID:24135613)
• These data identify ZFP57 as a candidate gene underlying reported MHC disease associations, notably for putative regulatory variants associated with cancer and HIV-1. (PMID:24193346)
• ZFP57 regulates the expression of insulin-like growth factor 2 (IGF2), which has a critical role in ZFP57-induced anchorage-independent growth (PMID:24469060)
• High grade glioblastoma is associated with increased level of ZFP57, a protein involved in gene imprinting, and aberrant expression of CPT1A and CPT1C. (PMID:24618825)
• transient neonatal diabetes type 1 is associated with ZFP57 mutations (PMID:27075368)
• Data propose that paternal deletions are associated with Silver-Russell syndrome when ZFP57 binding is affected and this happens when one of the three ZFP57 binding regions to H19/IGF2 intergenic differentially methylated region is lost. (PMID:29484033)
• Study demonstrated that ZFP57 plays an important role in the hematogenous metastasis of colorectal cancer, suggesting that it could be used as a novel treatment target. The expression level of ZFP57 was significantly correlated with that of the metastasis-related gene NANOG and ZFP57 overexpression reduced the progression-free survival rate of patients with colorectal cancer. (PMID:30694787)
• ZFP57-MEST and the Wnt/beta-catenin pathway axis are involved in breast tumorigenesis, which may represent a potential diagnostic biomarker, and provide a new insight into a novel therapeutic strategy for breast cancer patients. (PMID:30787268)
• The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances. (PMID:33053156)
• ZFP57 dictates allelic expression switch of target imprinted genes. (PMID:33500348)
• Mutational Alterations of DNA Methylation-related Genes CTCF, ZFP57, and ATF7IP Genes in Colon Cancers. (PMID:35175239)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp57	ENSMUSG00000036036
rattus_norvegicus	Zfp57	ENSRNOG00000022730

Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391)

Protein

Protein identifiers

Zinc finger protein 57 homolog — Q9NU63 (reviewed: Q9NU63)

Alternative names: Zinc finger protein 698

All UniProt accessions (3): A0A1U9X8V5, A0A7I2S1M6, Q9NU63

UniProt curated annotations — full annotation on UniProt →

Function. Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs). Acts together with ZNF445, but ZNF445 seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance. Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Binds to a 5’-TGCCGC-3’ consensus sequence and recognizes the methylated CpG within this element.

Subcellular location. Nucleus.

Disease relevance. Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410] An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The KRAB domain is required for function as transcriptional repressor. Zinc fingers 3 and 4 mediate recognition of the target element, ZF3 interacting with the 5’ half (TGC) and ZF4 interacting with the 3’ half (CGC).

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family. ZFP57 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NU63-1	1	yes
Q9NU63-2	2
Q9NU63-3	3

RefSeq proteins (2): NP_001103279, NP_001353262 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF01352

UniProt features (21 total): zinc finger region 7, sequence variant 5, splice variant 3, chain 1, domain 1, compositionally biased region 1, site 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NU63-F1	56.76	0.00

Functional residue map

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

Catalytic / active sites (1): 185 (crucial for 5-methylcytosine recognition)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 98 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_GENOMIC_IMPRINTING, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_CHROMATIN_REMODELING, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOMF_CHROMATIN_BINDING, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MIKKELSEN_MCV6_LCP_WITH_H3K4ME3, MIKKELSEN_MEF_LCP_WITH_H3K4ME3, MIKKELSEN_IPS_LCP_WITH_H3K4ME3, MIKKELSEN_ES_LCP_WITH_H3K4ME3, QI_HYPOXIA_TARGETS_OF_HIF1A_AND_FOXA2, DELACROIX_RAR_BOUND_ES, RAO_BOUND_BY_SALL4

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), autosome genomic imprinting (GO:0141068), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), chromatin binding (GO:0003682), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
genomic imprinting	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription cis-regulatory region binding	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

990 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZFP57	TRIM28	Q13263	981
ZFP57	SNRPN	P14648	828
ZFP57	MEST	Q5EB52	760
ZFP57	DPPA3	Q6W0C5	747
ZFP57	SETDB1	Q15047	741
ZFP57	GRB10	Q13322	721
ZFP57	ABCC8	Q09428	659
ZFP57	NAP1L5	Q96NT1	629
ZFP57	DNMT3L	Q9UJW3	626
ZFP57	KCNJ11	Q14654	615
ZFP57	KHDC3L	Q587J8	588
ZFP57	ZBTB33	Q86T24	582
ZFP57	IER3IP1	Q9Y5U9	571
ZFP57	DNMT1	P26358	569
ZFP57	POU5F1	P31359	558

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ZFP57	TRIM28	psi-mi:“MI:0915”(physical association)	0.500
CFTR	ZFP57	psi-mi:“MI:0915”(physical association)	0.370
ZFP57	PPM1G	psi-mi:“MI:0914”(association)	0.350

BioGRID (15): ZFP57 (Two-hybrid), ZFP57 (Two-hybrid), ZFP57 (Two-hybrid), ZFP57 (Two-hybrid), ZFP57 (Two-hybrid), ZFP57 (Two-hybrid), ZFP57 (Two-hybrid), ZFP57 (Two-hybrid), ZFP57 (Affinity Capture-RNA), ZFP57 (PCA), ZFP57 (Affinity Capture-MS), DNMT1 (Affinity Capture-Western), DNMT3A (Affinity Capture-Western), DNMT3B (Affinity Capture-Western), TRIM28 (Affinity Capture-Western)

ESM2 similar proteins: A0JPK3, A1YFX5, A2RQG7, A7KBS4, F4JUI3, G3X9G7, O49498, P03131, P04605, P04614, P05909, P0C1K0, P11332, P12453, P18098, P24109, P35965, P98182, Q09424, Q0VCB0, Q19203, Q2YDJ5, Q3UZB0, Q567C6, Q5BI31, Q5EXX3, Q5M948, Q62396, Q6AXY9, Q6PB60, Q6PI77, Q71HP2, Q74124, Q7JUR5, Q7Z142, Q7Z2Y5, Q80YD3, Q86UQ0, Q8C0P7, Q8C6P8

Diamond homologs: A0A1W2PQL4, A0JNB1, A0JPL0, A6NK53, A6QLU5, A6QPT6, A7MBI1, A8MT65, A8MUV8, A8MWA4, B2RXC5, B4DU55, B4DX44, E9PYI1, O14628, O75346, P0CH99, P0CI00, P17014, P17030, P17032, P17098, P51786, P85977, Q02386, Q06730, Q06732, Q0VAW7, Q12901, Q13360, Q14586, Q14588, Q14590, Q16587, Q2M3X9, Q2VY69, Q32M78, Q3ZCX4, Q49AA0, Q4R6J4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	4
Uncertain significance	86
Likely benign	19
Benign	21

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1323781	NM_001109809.5(ZFP57):c.133del (p.Thr45fs)	Pathogenic
1338549	NM_001109809.5(ZFP57):c.194_197dup (p.Val67fs)	Pathogenic
1338561	NM_001109809.5(ZFP57):c.458del (p.Leu153fs)	Pathogenic
715	NM_001109809.2(ZFP57):c.783C>A (p.Cys261Ter)	Pathogenic
716	NM_001109809.5(ZFP57):c.317_318del (p.Glu106fs)	Pathogenic
717	NM_001109809.5(ZFP57):c.1383del (p.Tyr462fs)	Pathogenic
718	NM_001109809.5(ZFP57):c.1372C>G (p.His458Asp)	Pathogenic
719	NM_001109809.5(ZFP57):c.743G>A (p.Arg248His)	Pathogenic
720	NM_001109809.5(ZFP57):c.829C>A (p.His277Asn)	Pathogenic
721	NM_001109809.5(ZFP57):c.898_905del (p.Gly299_Thr300insTer)	Pathogenic
1325370	NM_001109809.5(ZFP57):c.711dup (p.Lys238fs)	Likely pathogenic
1338537	NM_001109809.5(ZFP57):c.770G>A (p.Arg257Gln)	Likely pathogenic
2443301	NM_001109809.5(ZFP57):c.722dup (p.Cys241fs)	Likely pathogenic
3048727	NM_001109809.5(ZFP57):c.448C>T (p.Gln150Ter)	Likely pathogenic

SpliceAI

870 predictions. Top by Δscore:

Variant	Effect	Δscore
6:29675493:G:GC	acceptor_gain	1.0000
6:29676702:C:CA	donor_gain	1.0000
6:29676924:T:TA	donor_gain	1.0000
6:29675484:CTGG:C	acceptor_gain	0.9900
6:29675488:C:CC	acceptor_gain	0.9900
6:29675491:A:AC	acceptor_gain	0.9900
6:29675491:A:C	acceptor_gain	0.9900
6:29675493:G:C	acceptor_gain	0.9900
6:29675495:G:C	acceptor_gain	0.9900
6:29675495:G:GC	acceptor_gain	0.9900
6:29675967:AACAT:A	donor_gain	0.9900
6:29675971:T:TA	donor_gain	0.9900
6:29676898:C:A	donor_gain	0.9900
6:29673764:G:C	acceptor_gain	0.9800
6:29673764:G:GC	acceptor_gain	0.9800
6:29673768:A:AC	acceptor_gain	0.9800
6:29673768:A:C	acceptor_gain	0.9800
6:29676699:A:AC	donor_gain	0.9800
6:29676700:C:CC	donor_gain	0.9800
6:29676875:CCTCA:C	donor_loss	0.9800
6:29676876:CTCA:C	donor_loss	0.9800
6:29676877:TCACC:T	donor_loss	0.9800
6:29676878:CAC:C	donor_loss	0.9800
6:29676880:CC:C	donor_loss	0.9800
6:29676880:CCTT:C	donor_gain	0.9800
6:29673763:A:T	acceptor_gain	0.9700
6:29676883:TCTTC:T	donor_gain	0.9700
6:29673754:GCCTT:G	acceptor_gain	0.9600
6:29673755:CCTTC:C	acceptor_gain	0.9600
6:29673756:CTT:C	acceptor_gain	0.9600

AlphaMissense

3442 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:29673307:G:C	F184L	0.998
6:29673307:G:T	F184L	0.998
6:29673309:A:G	F184L	0.998
6:29673450:G:C	H137D	0.998
6:29673362:C:G	R166P	0.997
6:29673364:G:C	H165Q	0.997
6:29673364:G:T	H165Q	0.997
6:29673368:C:G	R164P	0.997
6:29673374:A:G	L162P	0.997
6:29673450:G:T	H137N	0.997
6:29672848:G:C	F337L	0.996
6:29672848:G:T	F337L	0.996
6:29672850:A:G	F337L	0.996
6:29673290:A:G	L190P	0.996
6:29673352:A:C	H169Q	0.996
6:29673352:A:T	H169Q	0.996
6:29673359:C:G	R167P	0.996
6:29673393:A:C	Y156D	0.996
6:29673418:G:C	F147L	0.996
6:29673418:G:T	F147L	0.996
6:29673420:A:G	F147L	0.996
6:29673443:C:G	R139P	0.996
6:29673448:G:C	H137Q	0.996
6:29673448:G:T	H137Q	0.996
6:29673475:A:C	F128L	0.996
6:29673475:A:T	F128L	0.996
6:29673477:A:G	F128L	0.996
6:29673559:G:C	F100L	0.996
6:29673559:G:T	F100L	0.996
6:29673561:A:G	F100L	0.996

dbSNP variants (sampled 300 via entrez): RS1000161651 (6:29678293 G>A), RS1000652186 (6:29682912 T>C), RS1000767074 (6:29676408 T>C), RS1001222038 (6:29676076 G>A,C), RS1001590036 (6:29681489 C>A,T), RS1001595991 (6:29673890 T>C), RS1001655263 (6:29673576 T>C), RS1001893815 (6:29673224 C>A,G), RS1002028336 (6:29680087 C>G), RS1002105985 (6:29681252 A>G), RS1002384257 (6:29675297 T>C), RS1002483806 (6:29680301 A>G), RS1002660954 (6:29672047 G>C), RS1003880783 (6:29681868 C>T), RS1005472283 (6:29678328 A>G)

Disease associations

OMIM: gene MIM:612192 | disease phenotypes: MIM:601410

GenCC curated gene-disease

Disease	Classification	Inheritance
diabetes mellitus, transient neonatal, 1	Definitive	Autosomal recessive
transient neonatal diabetes mellitus	Strong	Autosomal recessive

Mondo (3): diabetes mellitus, transient neonatal, 1 (MONDO:0011073), monogenic diabetes (MONDO:0015967), transient neonatal diabetes mellitus (MONDO:0020525)

Orphanet (2): Transient neonatal diabetes mellitus (Orphanet:99886), Rare genetic diabetes mellitus (Orphanet:183625)

HPO phenotypes

25 total (25 of 25 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000077	Abnormality of the kidney
HP:0000079	Abnormality of the urinary system
HP:0000158	Macroglossia
HP:0000365	Hearing impairment
HP:0000707	Abnormality of the nervous system
HP:0000821	Hypothyroidism
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001518	Small for gestational age
HP:0001525	Severe failure to thrive
HP:0001537	Umbilical hernia
HP:0001627	Abnormal heart morphology
HP:0001944	Dehydration
HP:0001953	Diabetic ketoacidosis
HP:0003074	Hyperglycemia
HP:0004904	Maturity-onset diabetes of the young
HP:0008255	Transient neonatal diabetes mellitus
HP:0009800	Maternal diabetes
HP:0012758	Neurodevelopmental delay
HP:0030057	Autoimmune antibody positivity
HP:0040064	Abnormality of limbs
HP:0040216	Hypoinsulinemia

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST004521_112	Autism spectrum disorder or schizophrenia	3.000000e-26
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_218	Autism spectrum disorder or schizophrenia	5.000000e-11
GCST004521_247	Autism spectrum disorder or schizophrenia	4.000000e-09
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_268	Autism spectrum disorder or schizophrenia	7.000000e-12
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_44	Autism spectrum disorder or schizophrenia	2.000000e-17
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_79	Autism spectrum disorder or schizophrenia	1.000000e-16
GCST004521_80	Autism spectrum disorder or schizophrenia	1.000000e-15
GCST005987_39	Albumin-globulin ratio	3.000000e-11
GCST008363_112	Offspring birth weight	3.000000e-08
GCST010103_3	White matter integrity (mean diffusivity)	6.000000e-12
GCST011598_3	Sepsis (hospital admission)	2.000000e-08
GCST90020028_884	Hip circumference adjusted for BMI	4.000000e-12

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005128	albumin:globulin ratio measurement
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0004641	white matter integrity
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563322	Diabetes Mellitus, Transient Neonatal, 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Folic Acid	decreases expression, increases methylation	2
propionaldehyde	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenite	increases expression	1
bisphenol S	decreases methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	increases abundance, affects methylation	1
Benzo(a)pyrene	affects methylation	1
Estradiol	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	increases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Valproic Acid	increases expression	1
Lactic Acid	increases expression	1
Particulate Matter	affects methylation, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A8C0	SEES3-1V human ZFP57, clone1	Embryonic stem cell	Male
CVCL_A8C1	SEES3-1V human ZFP57, clone2	Embryonic stem cell	Male
CVCL_A8C2	SEES3-1V human ZFP57, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06976658	PHASE2	RECRUITING	Glucokinase Activator in Monogenic Diabetes
NCT01795144	PHASE1	COMPLETED	Incretin Regulation of Insulin Secretion in Monogenic Diabetes
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT05945576	Not specified	RECRUITING	IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
NCT04409795	PHASE2/PHASE3	COMPLETED	Oral Hypoglycemic Therapy for Monogenic Variant Carriers of the Joslin Medalist Study
NCT03988764	Not specified	RECRUITING	Monogenic Diabetes Misdiagnosed as Type 1
NCT05586594	Not specified	NOT_YET_RECRUITING	Identifying Maturity-onset Diabetes of the Young in Emirati Patients
NCT06478121	Not specified	RECRUITING	Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
NCT06746610	Not specified	RECRUITING	Screening and Molecular Diagnosis-based Individualized Precision Management of Monogenic Diabetes
NCT07492004	Not specified	RECRUITING	China Monogenic Diabetes Registry
NCT07564518	Not specified	NOT_YET_RECRUITING	Application of FreeStyle Libre 2 for Evaluating Glycemic Variability Characteristics in Patients With Extreme Glucose Metabolism Phenotypes