ZNF749

Summary

ZNF749 (zinc finger protein 749, HGNC:32783) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 749 (O43361). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Source: NCBI Gene 388567 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 122 total
• MANE Select transcript: NM_001023561

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32783
Approved symbol	ZNF749
Name	zinc finger protein 749
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Aliases	FLJ16360
Ensembl gene	ENSG00000186230
Ensembl biotype	protein_coding
Entrez	388567

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000334181, ENST00000415248, ENST00000597296, ENST00000600697

RefSeq mRNA: 4 — MANE Select: NM_001023561 NM_001023561, NM_001321952, NM_001321953, NM_001321954

CCDS: CCDS33132

Canonical transcript exons

ENST00000334181 — 3 exons

Exon	Start	End
ENSE00001689567	57443291	57447101
ENSE00001831207	57435325	57435593
ENSE00002436562	57441885	57442011

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 79.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.5020 / max 117.6439, expressed in 1747 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177774	13.0384	1744
177776	0.2385	108
177773	0.2057	66
177775	0.0194	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	79.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.57	gold quality
right uterine tube	UBERON:0001302	78.11	gold quality
stromal cell of endometrium	CL:0002255	77.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	77.06	gold quality
left adrenal gland cortex	UBERON:0035825	76.60	gold quality
cortical plate	UBERON:0005343	76.57	gold quality
gastrocnemius	UBERON:0001388	76.45	gold quality
prefrontal cortex	UBERON:0000451	75.98	gold quality
left adrenal gland	UBERON:0001234	75.95	gold quality
skin of abdomen	UBERON:0001416	75.70	gold quality
muscle of leg	UBERON:0001383	75.58	gold quality
skin of leg	UBERON:0001511	75.45	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	75.29	gold quality
ganglionic eminence	UBERON:0004023	75.25	gold quality
ventricular zone	UBERON:0003053	75.23	gold quality
lower esophagus mucosa	UBERON:0035834	75.18	gold quality
granulocyte	CL:0000094	74.94	gold quality
right lobe of liver	UBERON:0001114	74.83	gold quality
adrenal tissue	UBERON:0018303	74.17	gold quality
right frontal lobe	UBERON:0002810	74.09	gold quality
body of pancreas	UBERON:0001150	73.77	gold quality
body of stomach	UBERON:0001161	73.76	gold quality
cingulate cortex	UBERON:0003027	73.65	gold quality
adrenal gland	UBERON:0002369	73.49	gold quality
anterior cingulate cortex	UBERON:0009835	73.45	gold quality
esophagus mucosa	UBERON:0002469	73.37	gold quality
right coronary artery	UBERON:0001625	73.22	gold quality
apex of heart	UBERON:0002098	73.18	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ENAD-20	no	133.35
E-ANND-3	no	2.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

71 targeting ZNF749, 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-3064-3P	100.00	70.09	1254
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-8061	99.63	69.44	1411
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-142-5P	99.48	70.92	2416

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp78	ENSMUSG00000055150
rattus_norvegicus		ENSRNOG00000083797
drosophila_melanogaster	CG2712	FBGN0024975
drosophila_melanogaster	Phs	FBGN0036522
drosophila_melanogaster	CG3281	FBGN0260741

Paralogs (62): ZNF582 (ENSG00000018869), ZNF264 (ENSG00000083844), ZNF343 (ENSG00000088876), ZNF684 (ENSG00000117010), ZNF133 (ENSG00000125846), ZNF557 (ENSG00000130544), ZNF337 (ENSG00000130684), ZNF20 (ENSG00000132010), ZFP37 (ENSG00000136866), ZNF614 (ENSG00000142556), KRBOX4 (ENSG00000147121), ZNF599 (ENSG00000153896), ZNF19 (ENSG00000157429), ZNF589 (ENSG00000164048), PRDM9 (ENSG00000164256), ZNF180 (ENSG00000167384), ZNF558 (ENSG00000167785), ZNF35 (ENSG00000169981), ZNF778 (ENSG00000170100), ZNF439 (ENSG00000171291), ZNF440 (ENSG00000171295), ZNF556 (ENSG00000172000), ZNF554 (ENSG00000172006), ZNF596 (ENSG00000172748), ZNF80 (ENSG00000174255), ZNF266 (ENSG00000174652), ZNF25 (ENSG00000175395), ZNF77 (ENSG00000175691), ZNF169 (ENSG00000175787), ZNF404 (ENSG00000176222), ZNF491 (ENSG00000177599), ZNF620 (ENSG00000177842), ZNF619 (ENSG00000177873), ZNF875 (ENSG00000181666), ZNF329 (ENSG00000181894), ZFP90 (ENSG00000184939), ZNF566 (ENSG00000186017), ZNF529 (ENSG00000186020), ZNF555 (ENSG00000186300), ZNF70 (ENSG00000187792)

Protein

Protein identifiers

Zinc finger protein 749 — O43361 (reviewed: O43361)

All UniProt accessions (2): O43361, C9J756

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

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

RefSeq proteins (4): NP_001018855, NP_001308881, NP_001308882, NP_001308883 (=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
IPR056436	Znf-C2H2_ZIC1-5/GLI1-3-like	Domain

Pfam: PF00096, PF01352, PF13912, PF23561

UniProt features (30 total): zinc finger region 19, sequence variant 3, modified residue 2, cross-link 2, sequence conflict 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43361-F1	59.67	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.

Post-translational modifications (4): 466, 539, 761, 768

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 47 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, BROWNE_HCMV_INFECTION_48HR_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MARTENS_TRETINOIN_RESPONSE_UP, BCAT.100_UP.V1_DN, IL21_UP.V1_UP, OISHI_CHOLANGIOMA_STEM_CELL_LIKE_UP, KRAS.LUNG_UP.V1_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, LHX9_TARGET_GENES, SNAI1_TARGET_GENES, ZNF768_TARGET_GENES, MIR101_3P, MIR33A_3P, MIR3145_3P

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872)

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

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
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	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

210 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF749	VN1R1	Q9GZP7	952
ZNF749	AVPR2	P30518	493
ZNF749	CYRIB	Q9NUQ9	322
ZNF749	RNASE2	P10153	311
ZNF749	SOAT2	O75908	301
ZNF749	HLA-DQB2	P05538	279
ZNF749	HLA-DQA2	P01906	257
ZNF749	NDUFV2	P19404	242
ZNF749	HLA-DRB1	P01911	223
ZNF749	ORMDL3	Q8N138	223
ZNF749	SLC35G2	Q8TBE7	220
ZNF749	RBM43	Q6ZSC3	213
ZNF749	CHIC1	Q5VXU3	201
ZNF749	HLA-DRB5	Q30154	193
ZNF749	HLA-DOB	P13765	185

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ZNF749	IPO8	psi-mi:“MI:0914”(association)	0.350
LTBP2	ZNF320	psi-mi:“MI:0914”(association)	0.350
PRKAR1B	ZNF749	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): ZNF749 (Affinity Capture-MS), ZNF749 (Affinity Capture-MS), ZNF749 (Affinity Capture-MS), ZNF749 (Affinity Capture-MS), ZNF749 (Affinity Capture-MS), ZNF749 (Proximity Label-MS)

ESM2 similar proteins: A6NDX5, A6NK75, A6NNF4, A6NP11, B4DXR9, B7Z6K7, C9JN71, O43361, O75290, O75373, P0CJ79, P0DKX0, P17019, P17021, P17035, P17039, P35789, Q02386, Q03938, Q08AN1, Q13106, Q15928, Q3ZCX4, Q5R9F0, Q5SXM1, Q68EA5, Q6P9A1, Q6PDB4, Q6ZN06, Q6ZN08, Q6ZNG1, Q76KX8, Q86V71, Q86XN6, Q8IYB9, Q8N4W9, Q8NEP9, Q8TBZ8, Q8TC21, Q8TF32

Diamond homologs: A2RRD8, A6NFI3, A6NM28, A8MUZ8, A8MWA4, B2RUI1, B4DU55, E9Q8G5, O43296, O43361, O75467, O75820, P0CH99, P0CI00, P10078, P16373, P16374, P17021, P17023, P17032, P17097, P17098, P21506, P51786, P52740, Q06732, Q08ER8, Q13106, Q13360, Q13398, Q14592, Q147U1, Q32M78, Q3KQV3, Q3MIS6, Q3SY52, Q571J5, Q5CZA5, Q5HY98, Q5R7I8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	111
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

895 predictions. Top by Δscore:

Variant	Effect	Δscore
19:57438186:G:GT	donor_gain	0.9900
19:57442008:GTAG:G	donor_gain	0.9900
19:57438237:G:GT	donor_gain	0.9800
19:57443285:TTACA:T	acceptor_loss	0.9800
19:57443286:TACAG:T	acceptor_loss	0.9800
19:57443287:ACAGG:A	acceptor_loss	0.9800
19:57443288:CAGGT:C	acceptor_loss	0.9800
19:57443289:A:G	acceptor_loss	0.9800
19:57443290:G:A	acceptor_loss	0.9800
19:57443290:GGTT:G	acceptor_gain	0.9800
19:57435589:CCGAG:C	donor_loss	0.9700
19:57435590:CGAGG:C	donor_loss	0.9700
19:57435592:AG:A	donor_loss	0.9700
19:57435593:GGT:G	donor_loss	0.9700
19:57435594:G:T	donor_loss	0.9700
19:57435595:T:A	donor_loss	0.9700
19:57438100:A:AG	acceptor_gain	0.9700
19:57438101:G:GG	acceptor_gain	0.9700
19:57438226:G:GT	donor_gain	0.9700
19:57438227:A:T	donor_gain	0.9700
19:57441884:GGATT:G	acceptor_gain	0.9700
19:57435596:GCGT:G	donor_loss	0.9600
19:57441285:G:T	donor_gain	0.9600
19:57442007:AGTAG:A	donor_loss	0.9600
19:57442008:GTAGG:G	donor_loss	0.9600
19:57442009:TAG:T	donor_loss	0.9600
19:57442010:AGG:A	donor_loss	0.9600
19:57442011:GG:G	donor_loss	0.9600
19:57442012:GTA:G	donor_loss	0.9600
19:57442013:T:G	donor_loss	0.9600

AlphaMissense

5258 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:57444622:T:C	F492L	0.992
19:57444624:C:A	F492L	0.992
19:57444624:C:G	F492L	0.992
19:57444487:T:C	F447L	0.991
19:57444489:T:A	F447L	0.991
19:57444489:T:G	F447L	0.991
19:57444403:T:C	F419L	0.989
19:57444405:T:A	F419L	0.989
19:57444405:T:G	F419L	0.989
19:57444067:T:C	F307L	0.988
19:57444069:T:A	F307L	0.988
19:57444069:T:G	F307L	0.988
19:57444319:T:C	F391L	0.987
19:57444321:T:A	F391L	0.987
19:57444321:T:G	F391L	0.987
19:57444432:T:A	H428Q	0.986
19:57444432:T:G	H428Q	0.986
19:57444706:T:C	F520L	0.986
19:57444708:T:A	F520L	0.986
19:57444708:T:G	F520L	0.986
19:57445038:T:A	H630Q	0.981
19:57445038:T:G	H630Q	0.981
19:57444235:T:C	F363L	0.979
19:57444237:T:A	F363L	0.979
19:57444237:T:G	F363L	0.979
19:57444516:C:A	H456Q	0.979
19:57444516:C:G	H456Q	0.979
19:57444151:T:C	F335L	0.978
19:57444153:T:A	F335L	0.978
19:57444153:T:G	F335L	0.978

dbSNP variants (sampled 300 via entrez): RS1000059844 (19:57445263 T>C,G), RS1000085993 (19:57439065 G>A,C,T), RS1000263083 (19:57443068 G>T), RS1000665016 (19:57438953 C>T), RS1000672323 (19:57430771 G>A,T), RS1000715286 (19:57438583 C>T), RS1000814593 (19:57426913 C>G), RS1000939687 (19:57433923 A>G), RS1001477519 (19:57430179 G>A), RS1001491027 (19:57440438 G>A,T), RS1001653399 (19:57436428 G>A), RS1001709270 (19:57437106 G>A), RS1001754655 (19:57437507 C>T), RS1001766593 (19:57442489 T>C), RS1001924882 (19:57443282 T>C)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

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