ZNF747

Summary

ZNF747 (zinc finger protein 747, HGNC:28350) is a protein-coding gene on chromosome 16p11.2, encoding Zinc finger protein 747 (Q9BV97).

Predicted to enable zinc ion binding activity. Predicted to be involved in regulation of DNA-templated transcription.

Source: NCBI Gene 65988 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 37 total
• MANE Select transcript: NM_001305018

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28350
Approved symbol	ZNF747
Name	zinc finger protein 747
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC2474
Ensembl gene	ENSG00000169955
Ensembl biotype	protein_coding
Entrez	65988

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000252799, ENST00000395094, ENST00000568028, ENST00000693075, ENST00000937379

RefSeq mRNA: 4 — MANE Select: NM_001305018 NM_001305018, NM_001305019, NM_001305020, NM_023931

CCDS: CCDS10682, CCDS76855, CCDS76856, CCDS92140

Canonical transcript exons

ENST00000693075 — 3 exons

Exon	Start	End
ENSE00003580086	30534197	30534310
ENSE00003922767	30530367	30533151
ENSE00003925643	30534451	30534858

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 94.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.6698 / max 36.8794, expressed in 1566 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157061	4.2368	1478
157062	0.4330	202

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	94.48	silver quality
buccal mucosa cell	CL:0002336	91.62	gold quality
diaphragm	UBERON:0001103	91.43	gold quality
type B pancreatic cell	CL:0000169	91.37	gold quality
tendon of biceps brachii	UBERON:0008188	91.32	gold quality
medial globus pallidus	UBERON:0002477	89.97	gold quality
globus pallidus	UBERON:0001875	86.67	gold quality
secondary oocyte	CL:0000655	84.16	gold quality
triceps brachii	UBERON:0001509	83.17	gold quality
mucosa of urinary bladder	UBERON:0001259	83.13	silver quality
gluteal muscle	UBERON:0002000	81.61	gold quality
oviduct epithelium	UBERON:0004804	81.54	gold quality
heart right ventricle	UBERON:0002080	81.18	silver quality
oocyte	CL:0000023	80.25	gold quality
gastrocnemius	UBERON:0001388	79.88	gold quality
muscle of leg	UBERON:0001383	79.14	gold quality
apex of heart	UBERON:0002098	79.05	gold quality
lower esophagus muscularis layer	UBERON:0035833	78.91	gold quality
lower esophagus	UBERON:0013473	78.86	gold quality
parotid gland	UBERON:0001831	78.81	silver quality
cardiac ventricle	UBERON:0002082	78.52	gold quality
heart left ventricle	UBERON:0002084	78.52	gold quality
muscle organ	UBERON:0001630	78.34	gold quality
right lobe of liver	UBERON:0001114	78.33	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.28	gold quality
popliteal artery	UBERON:0002250	78.19	gold quality
tibial artery	UBERON:0007610	78.19	gold quality
orbitofrontal cortex	UBERON:0004167	78.17	gold quality
fallopian tube	UBERON:0003889	78.15	gold quality
prefrontal cortex	UBERON:0000451	77.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

92 targeting ZNF747, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502

Cross-species orthologs

19 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf646	ENSDARG00000061424
danio_rerio	si:dkey-89b17.4	ENSDARG00000075545
danio_rerio	zgc:66472	ENSDARG00000075916
danio_rerio	si:ch211-148l7.4	ENSDARG00000094469
danio_rerio	znf576.1	ENSDARG00000097819
mus_musculus	Zfp764	ENSMUSG00000045757
mus_musculus	Zfp764l1	ENSMUSG00000078580
rattus_norvegicus	Zfp764	ENSRNOG00000031003
rattus_norvegicus	Zfp764l1	ENSRNOG00000046480
drosophila_melanogaster	az2	FBGN0025185
drosophila_melanogaster	CG2129	FBGN0030008
drosophila_melanogaster	CG1602	FBGN0033186
drosophila_melanogaster	CG18011	FBGN0033491
drosophila_melanogaster	CG12942	FBGN0033569
drosophila_melanogaster	indra	FBGN0035213
drosophila_melanogaster	CG30020	FBGN0050020
drosophila_melanogaster	mld	FBGN0263490
caenorhabditis_elegans	ztf-15	WBGENE00011066
caenorhabditis_elegans		WBGENE00015649

Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)

Protein

Protein identifiers

Zinc finger protein 747 — Q9BV97 (reviewed: Q9BV97)

All UniProt accessions (2): Q9BV97, A0A8I5KWK6

UniProt curated annotations — full annotation on UniProt →

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BV97-3	3	yes
Q9BV97-1	1
Q9BV97-2	2

RefSeq proteins (4): NP_001291947, NP_001291948, NP_001291949, NP_076420 (=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 (13 total): zinc finger region 4, splice variant 2, region of interest 2, compositionally biased region 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BV97-F1	64.22	0.00

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 69 (showing top): CHANDRAN_METASTASIS_DN, AMIT_EGF_RESPONSE_120_HELA, chr16p11, YY1_01, GCCATNTTG_YY1_Q6, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, BARX1_TARGET_GENES, CIITA_TARGET_GENES, E2F2_TARGET_GENES, ELF2_TARGET_GENES, FEV_TARGET_GENES

GO Biological Process (1): regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (0):

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	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transition metal ion binding	1
binding	1
cation binding	1

Protein interactions and networks

STRING

184 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF747	DCLK3	Q9C098	360
ZNF747	KAT8	Q9H7Z6	330
ZNF747	ITGAL	P20701	300
ZNF747	BEST1	O76090	252
ZNF747	BEST2	Q8NFU1	251
ZNF747	WHAMM	Q8TF30	247
ZNF747	GPR153	Q6NV75	242
ZNF747	VKORC1	Q9BQB6	242
ZNF747	SETDB1	Q15047	225
ZNF747	ITGAM	P11215	222
ZNF747	NRIP1	P48552	220
ZNF747	ANKRD39	Q53RE8	204
ZNF747	GABPA	Q06546	203
ZNF747	ZNF496	Q96IT1	195
ZNF747	CRH	P06850	187

IntAct

33 interactions, top by confidence:

A	B	Type	Score
ZNF747	SUFU	psi-mi:“MI:0915”(physical association)	0.890
SUFU	ZNF747	psi-mi:“MI:0915”(physical association)	0.890
ZNF747	APPBP2	psi-mi:“MI:0915”(physical association)	0.560
APPBP2	ZNF747	psi-mi:“MI:0915”(physical association)	0.560
INCA1	ZNF747	psi-mi:“MI:0915”(physical association)	0.560
ZNF707	ZNF316	psi-mi:“MI:0914”(association)	0.530
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
PARP2	ZNF747	psi-mi:“MI:0557”(adp ribosylation reaction)	0.440
EFEMP1	ZNF316	psi-mi:“MI:0914”(association)	0.350
ZNF785	CASK	psi-mi:“MI:0914”(association)	0.350
ZNF747	TRIM28	psi-mi:“MI:0914”(association)	0.350
CBX5	ZNF568	psi-mi:“MI:0914”(association)	0.350
PSME3	C11orf98	psi-mi:“MI:0914”(association)	0.350
RBSN	ZNF747	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FBLN5	ZNF320	psi-mi:“MI:0914”(association)	0.350
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
LTBP2	ZNF320	psi-mi:“MI:0914”(association)	0.350
CBX3	ZNF324	psi-mi:“MI:0914”(association)	0.350
ZNF747	PTGDS	psi-mi:“MI:0914”(association)	0.350
ZNF747	CASP7	psi-mi:“MI:0914”(association)	0.350

BioGRID (54): ZNF747 (Two-hybrid), ZNF747 (Two-hybrid), ZNF747 (Affinity Capture-MS), ZNF747 (Reconstituted Complex), ZNF747 (Reconstituted Complex), ZNF747 (Affinity Capture-MS), ZNF747 (Affinity Capture-MS), ZNF747 (Affinity Capture-MS), SUFU (Affinity Capture-MS), MZB1 (Affinity Capture-MS), TRIM28 (Affinity Capture-MS), ZNF747 (Affinity Capture-MS), CYGB (Affinity Capture-MS), MRS2 (Affinity Capture-MS), IL18 (Affinity Capture-MS)

ESM2 similar proteins: A1YGK1, A2T7E6, A4D1S0, A9YTQ3, B1WBS3, I7HJS4, O43593, O43918, O60304, O75593, O95201, P0C6A0, P0C7X2, P97609, Q2MHN3, Q3B7M4, Q3SY56, Q3U133, Q58DK7, Q5JPB2, Q5SXI5, Q5T619, Q61645, Q6KAU7, Q6NUN9, Q6ZMS7, Q76NI1, Q7Z6P3, Q8BZ34, Q8BZW2, Q8CGW9, Q8IWN7, Q8IXT2, Q8IZ20, Q8NBB4, Q8NDX1, Q8NHY3, Q91X45, Q96PX9, Q99558

Diamond homologs: A0JPL0, A2A761, A3KN32, A3KN36, A6NFI3, A6NM28, A6QLU5, A6QPT6, A7MBI1, A8MTY0, B2RXC5, B4DU55, E9PYI1, O14978, O60765, O75467, O75820, O95780, P0C7X2, P0DKX0, P0DPD5, P10072, P15622, P16374, P17014, P17023, P17032, P17098, P51523, P51786, P52738, P52742, Q02975, Q06732, Q08DG8, Q08ER8, Q0VCB0, Q14590, Q14929, Q29RZ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

534 predictions. Top by Δscore:

Variant	Effect	Δscore
16:30533147:ATCTG:A	acceptor_gain	1.0000
16:30533149:CTG:C	acceptor_gain	1.0000
16:30534193:C:CA	donor_gain	1.0000
16:30534445:TCTCA:T	donor_loss	1.0000
16:30534446:CTCA:C	donor_loss	1.0000
16:30534447:TCACC:T	donor_loss	1.0000
16:30534448:CAC:C	donor_loss	1.0000
16:30534449:A:AC	donor_gain	1.0000
16:30534449:ACCGA:A	donor_loss	1.0000
16:30534450:C:CA	donor_loss	1.0000
16:30534450:C:CC	donor_gain	1.0000
16:30533147:AT:A	acceptor_loss	0.9900
16:30533148:TC:T	acceptor_loss	0.9900
16:30533148:TCTG:T	acceptor_loss	0.9900
16:30533148:TCTGC:T	acceptor_gain	0.9900
16:30533149:C:CA	acceptor_loss	0.9900
16:30533149:CTGC:C	acceptor_loss	0.9900
16:30533149:CTGCT:C	acceptor_gain	0.9900
16:30533150:T:G	acceptor_loss	0.9900
16:30533150:TG:T	acceptor_gain	0.9900
16:30533151:GCTG:G	acceptor_loss	0.9900
16:30533152:C:CC	acceptor_gain	0.9900
16:30533152:CTGAA:C	acceptor_loss	0.9900
16:30533153:T:C	acceptor_loss	0.9900
16:30534192:TCCA:T	donor_loss	0.9900
16:30534193:CCA:C	donor_loss	0.9900
16:30534194:CAC:C	donor_loss	0.9900
16:30534195:A:AG	donor_loss	0.9900
16:30534196:C:CT	donor_loss	0.9900
16:30534220:TTCGC:T	donor_gain	0.9900

AlphaMissense

2122 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:30534563:G:C	F39L	0.991
16:30534563:G:T	F39L	0.991
16:30534565:A:G	F39L	0.991
16:30534527:C:A	W51C	0.987
16:30534527:C:G	W51C	0.987
16:30534482:C:A	M66I	0.984
16:30534482:C:G	M66I	0.984
16:30534482:C:T	M66I	0.984
16:30534506:C:A	Q58H	0.981
16:30534506:C:G	Q58H	0.981
16:30534543:A:G	F46S	0.980
16:30534542:G:C	F46L	0.974
16:30534542:G:T	F46L	0.974
16:30534544:A:G	F46L	0.974
16:30534496:A:C	Y62D	0.971
16:30534564:A:C	F39C	0.970
16:30534564:A:G	F39S	0.970
16:30534483:A:G	M66T	0.966
16:30534496:A:T	Y62N	0.953
16:30534477:T:A	E68V	0.951
16:30534552:G:T	A43D	0.946
16:30534529:A:G	W51R	0.944
16:30534529:A:T	W51R	0.944
16:30534503:C:A	R59S	0.943
16:30534503:C:G	R59S	0.943
16:30534487:C:A	V65L	0.934
16:30534487:C:G	V65L	0.934
16:30534530:C:A	E50D	0.931
16:30534530:C:G	E50D	0.931
16:30534495:T:G	Y62S	0.924

dbSNP variants (sampled 300 via entrez): RS1000853654 (16:30535879 C>T), RS1000868120 (16:30530020 G>A,T), RS1000978717 (16:30530482 G>A), RS1001373111 (16:30536258 T>C), RS1002021295 (16:30536344 A>G,T), RS1002197056 (16:30530932 C>T), RS1002284318 (16:30533754 A>G), RS1002718125 (16:30531243 C>T), RS1002886018 (16:30534815 C>A,T), RS1003388485 (16:30533937 A>G), RS1003591169 (16:30531419 C>G,T), RS1004029602 (16:30534015 C>G,T), RS1004384339 (16:30530161 C>G,T), RS1004721978 (16:30534999 G>GA), RS1005295241 (16:30536772 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90013407_107	Liver enzyme levels (gamma-glutamyl transferase)	3.000000e-28

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, increases expression	3
GSK-J4	decreases expression	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	increases expression, increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ferrous chloride	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases expression	1
Doxorubicin	decreases expression	1
Methotrexate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Acrylamide	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XW80	HEK293 eGFP-ZNF747	Transformed cell line	Female

Clinical trials (associated diseases)

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