ZNF846

Summary

ZNF846 (zinc finger protein 846, HGNC:27260) is a protein-coding gene on chromosome 19p13.2, encoding Zinc finger protein 846 (Q147U1). 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 162993 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 86 total
• MANE Select transcript: NM_001077624

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27260
Approved symbol	ZNF846
Name	zinc finger protein 846
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000196605
Ensembl biotype	protein_coding
Entrez	162993

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000397902, ENST00000586293, ENST00000586814, ENST00000587650, ENST00000588267, ENST00000589038, ENST00000589412, ENST00000589453, ENST00000590471, ENST00000591377, ENST00000592587, ENST00000592859, ENST00000878603

RefSeq mRNA: 17 — MANE Select: NM_001077624 NM_001077624, NM_001353798, NM_001353799, NM_001353800, NM_001395830, NM_001395831, NM_001395832, NM_001395833, NM_001395834, NM_001395835, NM_001395837, NM_001395838, NM_001395839, NM_001395840, NM_001395841, NM_001395842, NM_001395843

CCDS: CCDS42496, CCDS92508

Canonical transcript exons

ENST00000397902 — 6 exons

Exon	Start	End
ENSE00001530657	9759860	9759942
ENSE00001530659	9762082	9762168
ENSE00003528913	9764936	9765035
ENSE00003541670	9763282	9763408
ENSE00003553888	9755357	9758764
ENSE00003968365	9768289	9768738

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 93.17.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.0889 / max 82.0430, expressed in 1561 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179025	2.2451	844
179026	1.9118	1093
179027	0.8827	524
179029	0.0217	3
179030	0.0144	4
179031	0.0132	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	93.17	gold quality
right testis	UBERON:0004534	92.81	gold quality
sperm	CL:0000019	92.10	gold quality
testis	UBERON:0000473	90.69	gold quality
descending thoracic aorta	UBERON:0002345	88.44	gold quality
lower esophagus mucosa	UBERON:0035834	87.92	gold quality
left uterine tube	UBERON:0001303	86.57	gold quality
right coronary artery	UBERON:0001625	86.47	gold quality
right ovary	UBERON:0002118	85.95	gold quality
smooth muscle tissue	UBERON:0001135	85.88	gold quality
calcaneal tendon	UBERON:0003701	85.77	gold quality
thoracic aorta	UBERON:0001515	85.74	gold quality
ascending aorta	UBERON:0001496	85.52	gold quality
lower esophagus	UBERON:0013473	85.45	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.42	gold quality
left ovary	UBERON:0002119	85.14	gold quality
body of uterus	UBERON:0009853	85.09	gold quality
aorta	UBERON:0000947	85.00	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.85	gold quality
popliteal artery	UBERON:0002250	84.83	gold quality
tibial artery	UBERON:0007610	84.83	gold quality
esophagus	UBERON:0001043	84.56	gold quality
tendon	UBERON:0000043	84.55	gold quality
right uterine tube	UBERON:0001302	84.45	gold quality
esophagus mucosa	UBERON:0002469	84.11	gold quality
gall bladder	UBERON:0002110	84.09	gold quality
amniotic fluid	UBERON:0000173	83.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.77	gold quality
ectocervix	UBERON:0012249	83.56	gold quality
colonic epithelium	UBERON:0000397	83.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.23

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
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), ZNF749 (ENSG00000186230), ZNF555 (ENSG00000186300)

Protein

Protein identifiers

Zinc finger protein 846 — Q147U1 (reviewed: Q147U1)

All UniProt accessions (5): Q147U1, K7ELQ5, K7ELV4, K7EML1, K7EMP9

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q147U1-1	1	yes
Q147U1-3	2

RefSeq proteins (17): NP_001071092, NP_001340727, NP_001340728, NP_001340729, NP_001382759, NP_001382760, NP_001382761, NP_001382762, NP_001382763, NP_001382764, NP_001382766, NP_001382767, NP_001382768, NP_001382769, NP_001382770, NP_001382771, NP_001382772 (=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
IPR050752	C2H2-ZF_domain	Family

Pfam: PF00096, PF01352, PF13465

UniProt features (20 total): zinc finger region 14, splice variant 2, sequence variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q147U1-F1	70.78	0.28

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 59 (showing top): ZHANG_BREAST_CANCER_PROGENITORS_UP, chr19p13, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, CHICAS_RB1_TARGETS_SENESCENT, PEDRIOLI_MIR31_TARGETS_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CBX5_TARGET_GENES, CHAF1B_TARGET_GENES, DIDO1_TARGET_GENES, HMG20B_TARGET_GENES, NKX2_2_TARGET_GENES, RYBP_TARGET_GENES, SRSF9_TARGET_GENES, ZNF22_TARGET_GENES, ZNF282_TARGET_GENES

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

GO Molecular Function (6): 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), 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
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
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

324 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF846	TBC1D21	Q8IYX1	475
ZNF846	FBXL12	Q9NXK8	452
ZNF846	CCDC88C	Q9P219	395
ZNF846	YPEL2	Q96QA6	358
ZNF846	FAM169A	Q9Y6X4	358
ZNF846	PHTF2	Q8N3S3	358
ZNF846	TINAGL1	Q9GZM7	354
ZNF846	ATP8B2	P98198	320
ZNF846	NAA40	Q86UY6	304
ZNF846	LGALS14	Q8TCE9	296
ZNF846	SPAG4	Q9NPE6	287
ZNF846	ANKRD37	Q7Z713	286
ZNF846	FAT3	Q8TDW7	282
ZNF846	CREBRF	Q8IUR6	272
ZNF846	OR5I1	Q13606	269
ZNF846	FRMD3	A2A2Y4	269

IntAct

8 interactions, top by confidence:

A	B	Type	Score
ZNF846	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	ZNF846	psi-mi:“MI:0915”(physical association)	0.560
ZNF846	ECE1	psi-mi:“MI:0915”(physical association)	0.370
NP	KPNA4	psi-mi:“MI:0914”(association)	0.350
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
ZNF846	IPO8	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): KRTAP10-7 (Two-hybrid), ZNF846 (Affinity Capture-RNA), ZNF846 (Affinity Capture-MS), PRDX5 (Cross-Linking-MS (XL-MS)), ASS1 (Cross-Linking-MS (XL-MS)), ZNF846 (Affinity Capture-RNA), ZNF846 (Affinity Capture-MS)

ESM2 similar proteins: A2RRD8, A6NHJ4, B4DX44, O75346, P10077, P10755, P15621, P16372, P16373, P51786, P52737, P85977, Q0VGE8, Q14588, Q147U1, Q15928, Q15973, Q2M3X9, Q3KNS6, Q3MIS6, Q494X3, Q5HY98, Q5RBQ3, Q5REK1, Q5VIY5, Q60585, Q61751, Q6GQR8, Q7L2R6, Q7TSH9, Q8IYX0, Q8N782, Q8N823, Q8N988, Q8N9F8, Q8NA42, Q8NCK3, Q8NDP4, Q8NEP9, Q8TC21

Diamond homologs: A0JPL0, A1L1L7, A2A761, A2VDP4, A3KN36, A6QLU5, A6QPT6, A7MBI1, A8MT65, B2RXC5, E9PYI1, E9Q8G5, O75290, O94892, O95780, P10076, P17014, P17023, P17025, P17030, P17032, P17098, P51523, P51814, P52736, P52742, P58317, Q02975, Q06730, Q06732, Q08DG8, Q0VCB0, Q13360, Q14584, Q14587, Q14590, Q147U1, Q16587, Q29RZ4, Q2M218

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1099 predictions. Top by Δscore:

Variant	Effect	Δscore
19:9758760:CTCTC:C	acceptor_gain	1.0000
19:9758762:CTC:C	acceptor_gain	1.0000
19:9758763:TC:T	acceptor_gain	1.0000
19:9758764:CC:C	acceptor_gain	1.0000
19:9758764:CCTGT:C	acceptor_loss	1.0000
19:9758765:C:CC	acceptor_gain	1.0000
19:9758773:A:AC	acceptor_gain	1.0000
19:9758775:A:C	acceptor_gain	1.0000
19:9758761:TCTC:T	acceptor_gain	0.9900
19:9758762:CTCC:C	acceptor_gain	0.9900
19:9758763:TCCT:T	acceptor_gain	0.9900
19:9758768:T:C	acceptor_gain	0.9900
19:9758773:A:C	acceptor_gain	0.9900
19:9758775:A:AC	acceptor_gain	0.9900
19:9759726:C:A	donor_gain	0.9900
19:9759853:ATCTT:A	donor_loss	0.9900
19:9759854:TCTTA:T	donor_loss	0.9900
19:9759855:CTTAC:C	donor_loss	0.9900
19:9759856:TTAC:T	donor_loss	0.9900
19:9759857:TACC:T	donor_loss	0.9900
19:9759858:A:AG	donor_loss	0.9900
19:9759870:C:CA	donor_gain	0.9900
19:9759941:TT:T	acceptor_gain	0.9900
19:9759943:C:CC	acceptor_gain	0.9900
19:9762080:AC:A	donor_gain	0.9900
19:9762081:CC:C	donor_gain	0.9900
19:9762164:CCCTG:C	acceptor_gain	0.9900
19:9762165:CCTGC:C	acceptor_gain	0.9900
19:9762640:AAAT:A	donor_gain	0.9900
19:9762641:A:C	donor_gain	0.9900

AlphaMissense

3536 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:9757784:G:C	F431L	0.996
19:9757784:G:T	F431L	0.996
19:9757786:A:G	F431L	0.996
19:9758204:G:C	F291L	0.995
19:9758204:G:T	F291L	0.995
19:9758206:A:G	F291L	0.995
19:9758288:G:C	F263L	0.995
19:9758288:G:T	F263L	0.995
19:9758290:A:G	F263L	0.995
19:9757700:A:C	F459L	0.994
19:9757700:A:T	F459L	0.994
19:9757702:A:G	F459L	0.994
19:9758120:G:C	F319L	0.994
19:9758120:G:T	F319L	0.994
19:9758122:A:G	F319L	0.994
19:9757868:A:C	F403L	0.993
19:9757868:A:T	F403L	0.993
19:9757870:A:G	F403L	0.993
19:9758036:A:C	F347L	0.992
19:9758036:A:T	F347L	0.992
19:9758038:A:G	F347L	0.992
19:9757616:G:C	F487L	0.991
19:9757616:G:T	F487L	0.991
19:9757618:A:G	F487L	0.991
19:9758088:C:G	R330P	0.991
19:9757757:A:C	H440Q	0.990
19:9757757:A:T	H440Q	0.990
19:9758103:A:G	L325P	0.990
19:9758372:G:C	F235L	0.990
19:9758372:G:T	F235L	0.990

dbSNP variants (sampled 300 via entrez): RS1000016840 (19:9783988 C>A), RS1000018365 (19:9773941 T>C,G), RS1000085254 (19:9784190 C>A,T), RS1000133269 (19:9768641 C>G), RS1000232041 (19:9768742 T>C), RS1000278618 (19:9753214 G>A), RS1000347387 (19:9771732 C>G), RS1000401186 (19:9771988 G>A,C), RS1000563090 (19:9768307 C>T), RS1000580021 (19:9762697 C>T), RS1000629480 (19:9766808 G>A), RS1000653670 (19:9759124 A>G,T), RS1000661146 (19:9754373 G>A), RS1000684492 (19:9773263 G>A), RS1000706062 (19:9759421 G>A)

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

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
GSK-J4	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	decreases expression, increases activity, affects binding	1
arsenite	affects binding, increases reaction	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cadmium	increases abundance, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Cadmium Chloride	increases expression, increases abundance	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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