ZNF273

Summary

ZNF273 (zinc finger protein 273, HGNC:13067) is a protein-coding gene on chromosome 7q11.21, encoding Zinc finger protein 273 (Q14593). May be involved in transcriptional regulation.

This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10793 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 82 total
• MANE Select transcript: NM_021148

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13067
Approved symbol	ZNF273
Name	zinc finger protein 273
Location	7q11.21
Locus type	gene with protein product
Status	Approved
Aliases	HZF9
Ensembl gene	ENSG00000198039
Ensembl biotype	protein_coding
OMIM	604756
Entrez	10793

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding_CDS_not_defined, 2 protein_coding, 1 nonsense_mediated_decay

ENST00000395375, ENST00000465954, ENST00000471926, ENST00000476120, ENST00000476730, ENST00000489672, ENST00000527278, ENST00000936012

RefSeq mRNA: 8 — MANE Select: NM_021148 NM_001385643, NM_001385644, NM_001385645, NM_001385646, NM_001385649, NM_001385652, NM_001388021, NM_021148

CCDS: CCDS5528

Canonical transcript exons

ENST00000476120 — 4 exons

Exon	Start	End
ENSE00001864176	64927654	64930981
ENSE00002194319	64903273	64903419
ENSE00003514304	64918197	64918292
ENSE00003590003	64917581	64917707

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 96.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5425 / max 198.4478, expressed in 1535 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78826	8.5001	1468
78828	0.5185	231
78822	0.5062	138
78821	0.2699	128
78823	0.2234	110
78819	0.2059	105
78827	0.1891	100
78820	0.1294	72

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	96.97	gold quality
upper leg skin	UBERON:0004262	96.95	gold quality
skin of abdomen	UBERON:0001416	95.60	gold quality
skin of hip	UBERON:0001554	95.05	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.08	gold quality
bronchial epithelial cell	CL:0002328	93.88	gold quality
cerebellar hemisphere	UBERON:0002245	93.87	gold quality
cerebellar cortex	UBERON:0002129	93.57	gold quality
skin of leg	UBERON:0001511	93.28	gold quality
zone of skin	UBERON:0000014	93.06	gold quality
cerebellum	UBERON:0002037	91.29	gold quality
epithelium of bronchus	UBERON:0002031	90.51	gold quality
bronchus	UBERON:0002185	88.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.53	gold quality
lower esophagus mucosa	UBERON:0035834	87.28	gold quality
sperm	CL:0000019	86.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.89	gold quality
vagina	UBERON:0000996	83.91	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.88	gold quality
esophagus mucosa	UBERON:0002469	83.77	gold quality
male germ cell	CL:0000015	83.60	gold quality
right frontal lobe	UBERON:0002810	83.60	gold quality
upper arm skin	UBERON:0004263	83.51	gold quality
ganglionic eminence	UBERON:0004023	83.35	gold quality
caudate nucleus	UBERON:0001873	83.28	gold quality
minor salivary gland	UBERON:0001830	83.16	gold quality
oral cavity	UBERON:0000167	82.27	gold quality
muscle layer of sigmoid colon	UBERON:0035805	82.15	gold quality
nucleus accumbens	UBERON:0001882	82.14	gold quality
ventricular zone	UBERON:0003053	81.94	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	49.73
E-MTAB-9388	yes	9.07
E-ANND-3	yes	8.30
E-MTAB-7606	no	294.90

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000099025

Paralogs (18): ZNF430 (ENSG00000118620), ZNF92 (ENSG00000146757), ZNF66 (ENSG00000160229), ZNF22 (ENSG00000165512), ZNF680 (ENSG00000173041), ZNF114 (ENSG00000178150), ZFP41 (ENSG00000181638), ZNF730 (ENSG00000183850), ZNF479 (ENSG00000185177), ZNF626 (ENSG00000188171), ZNF431 (ENSG00000196705), ZNF100 (ENSG00000197020), ZNF257 (ENSG00000197134), ZNF98 (ENSG00000197360), ZNF675 (ENSG00000197372), ZNF737 (ENSG00000237440), ZNF253 (ENSG00000256771), ZNF723 (ENSG00000268696)

Protein

Protein identifiers

Zinc finger protein 273 — Q14593 (reviewed: Q14593)

Alternative names: Zinc finger protein HZF9

All UniProt accessions (2): E9PL30, Q14593

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?
Q14593-1	1	yes
Q14593-2	2

RefSeq proteins (8): NP_001372572, NP_001372573, NP_001372574, NP_001372575, NP_001372578, NP_001372581, NP_001374950, NP_066971* (*=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

UniProt features (23 total): zinc finger region 13, region of interest 2, compositionally biased region 2, sequence variant 2, chain 1, domain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14593-F1	70.23	0.15

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway
R-HSA-9843940	Regulation of endogenous retroelements by KRAB-ZFP proteins

MSigDB gene sets: 89 (showing top): BROWNE_HCMV_INFECTION_16HR_UP, BROWNE_HCMV_INFECTION_12HR_UP, BILD_HRAS_ONCOGENIC_SIGNATURE, MODULE_206, SCHLOSSER_SERUM_RESPONSE_DN, FISCHER_DREAM_TARGETS, chr7q11, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, YAGI_AML_WITH_T_8_21_TRANSLOCATION, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_UP, JOHNSTONE_PARVB_TARGETS_3_DN, EGFR_UP.V1_DN, BCAT_GDS748_DN

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

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), 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)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RNA Polymerase II Transcription	1
Regulation of endogenous retroelements	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	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

518 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF273	TP53BP1	Q12888	555
ZNF273	CFAP68	Q9H5F2	419
ZNF273	ERVV-1	B6SEH8	398
ZNF273	TATDN2	Q93075	336
ZNF273	NHLRC3	Q5JS37	320
ZNF273	TMEM147	Q9BVK8	297
ZNF273	TM4SF20	Q53R12	294
ZNF273	RBMXL3	Q8N7X1	288
ZNF273	ATP6AP2	O75787	285
ZNF273	ZMYM4	Q5VZL5	279
ZNF273	ACTB	P02570	279
ZNF273	FASTKD3	Q14CZ7	270
ZNF273	RANBP6	O60518	269
ZNF273	S100PBP	Q96BU1	265
ZNF273	ZNF706	Q9Y5V0	265

IntAct

28 interactions, top by confidence:

A	B	Type	Score
ZNF273	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-5	ZNF273	psi-mi:“MI:0915”(physical association)	0.560
ZNF707	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF512	ZNF724	psi-mi:“MI:0914”(association)	0.530
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
ZNF273	SP8	psi-mi:“MI:0915”(physical association)	0.370
CA14	ZNF273	psi-mi:“MI:0915”(physical association)	0.370
Nrip3	ILVBL	psi-mi:“MI:0914”(association)	0.350
Gsk3b	SYNPO2	psi-mi:“MI:0914”(association)	0.350
TENT5A	GOLGA8R	psi-mi:“MI:0914”(association)	0.350
Kif2c	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
HDAC1	TRAK1	psi-mi:“MI:0914”(association)	0.350
TRIM28	ZNF320	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
RPL27A	ZNF320	psi-mi:“MI:0914”(association)	0.350
PURG	ZNF320	psi-mi:“MI:0914”(association)	0.350
FBLN5	ZNF320	psi-mi:“MI:0914”(association)	0.350
LTBP2	ZNF320	psi-mi:“MI:0914”(association)	0.350
PRR3	ZNF316	psi-mi:“MI:0914”(association)	0.350
ANOS1	ZNF724	psi-mi:“MI:0914”(association)	0.350
RPS13	KIF2A	psi-mi:“MI:0914”(association)	0.350

BioGRID (28): KRTAP10-5 (Two-hybrid), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-RNA), ZNF273 (Proximity Label-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS), ZNF273 (Affinity Capture-MS)

ESM2 similar proteins: A0A1W2PQL4, A0JPL0, A2RRD8, A6NHJ4, A6NP11, B4DX44, O75346, O95780, P0CB33, P21506, P51508, P52738, Q0D2J5, Q0VGE8, Q12901, Q13360, Q14593, Q15973, Q2M218, Q2M3X9, Q2VY69, Q3SXZ3, Q5HY98, Q5RCJ2, Q5VIY5, Q6J6I6, Q7L2R6, Q86XU0, Q86Y25, Q8IW36, Q8IYN0, Q8IYX0, Q8N782, Q8N883, Q8N9Z0, Q8NDP4, Q95K49, Q969W8, Q96H40, Q96N58

Diamond homologs: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

755 predictions. Top by Δscore:

Variant	Effect	Δscore
7:64917575:TTTCA:T	acceptor_loss	1.0000
7:64917576:TTCA:T	acceptor_loss	1.0000
7:64917577:TCA:T	acceptor_loss	1.0000
7:64917578:CA:C	acceptor_loss	1.0000
7:64917668:A:T	donor_gain	1.0000
7:64919921:A:AG	acceptor_gain	1.0000
7:64903417:ATGG:A	donor_loss	0.9900
7:64903418:TGG:T	donor_loss	0.9900
7:64903420:G:T	donor_loss	0.9900
7:64903421:T:A	donor_loss	0.9900
7:64917579:A:AG	acceptor_gain	0.9900
7:64917579:AG:A	acceptor_gain	0.9900
7:64917579:AGG:A	acceptor_gain	0.9900
7:64917580:G:GT	acceptor_gain	0.9900
7:64917580:GG:G	acceptor_gain	0.9900
7:64917580:GGG:G	acceptor_gain	0.9900
7:64917580:GGGA:G	acceptor_gain	0.9900
7:64917580:GGGAC:G	acceptor_gain	0.9900
7:64917667:G:GT	donor_gain	0.9900
7:64917705:TGGGT:T	donor_loss	0.9900
7:64917706:GG:G	donor_gain	0.9900
7:64917706:GGGTG:G	donor_loss	0.9900
7:64917707:GG:G	donor_gain	0.9900
7:64917707:GGT:G	donor_loss	0.9900
7:64917708:G:GA	donor_loss	0.9900
7:64917708:G:GG	donor_gain	0.9900
7:64917709:T:TG	donor_loss	0.9900
7:64917710:G:GG	donor_loss	0.9900
7:64917713:GA:G	donor_gain	0.9900
7:64918192:AACAG:A	acceptor_loss	0.9900

AlphaMissense

3766 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:64928307:T:C	F327L	0.986
7:64928309:T:A	F327L	0.986
7:64928309:T:G	F327L	0.986
7:64928391:T:C	F355L	0.985
7:64928393:T:A	F355L	0.985
7:64928393:T:G	F355L	0.985
7:64928811:T:C	F495L	0.979
7:64928813:T:A	F495L	0.979
7:64928813:T:G	F495L	0.979
7:64928475:T:C	F383L	0.975
7:64928477:T:A	F383L	0.975
7:64928477:T:G	F383L	0.975
7:64928895:T:C	F523L	0.970
7:64928897:T:A	F523L	0.970
7:64928897:T:G	F523L	0.970
7:64928643:T:C	F439L	0.961
7:64928645:T:A	F439L	0.961
7:64928645:T:G	F439L	0.961
7:64928727:T:C	F467L	0.961
7:64928729:T:A	F467L	0.961
7:64928729:T:G	F467L	0.961
7:64928902:G:C	R525P	0.955
7:64928223:T:C	F299L	0.953
7:64928225:T:A	F299L	0.953
7:64928225:T:G	F299L	0.953
7:64917614:T:C	F46L	0.950
7:64917616:C:A	F46L	0.950
7:64917616:C:G	F46L	0.950
7:64928139:T:C	F271L	0.946
7:64928141:T:A	F271L	0.946

dbSNP variants (sampled 300 via entrez): RS1000007024 (7:64915091 A>G), RS1000034218 (7:64932074 A>T), RS1000070898 (7:64915632 G>A), RS1000148153 (7:64894594 A>AC), RS1000197860 (7:64893125 T>C,G), RS1000202257 (7:64895418 C>G), RS1000209821 (7:64886525 C>T), RS1000331973 (7:64908648 G>A,T), RS1000332823 (7:64901749 G>A,T), RS1000376911 (7:64901995 G>A), RS1000401487 (7:64877247 A>G,T), RS1000427530 (7:64927171 C>A,T), RS1000460143 (7:64926922 C>A,T), RS1000480825 (7:64915117 T>C), RS1000512907 (7:64914743 G>A,T)

Disease associations

OMIM: gene MIM:604756 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003427_11	Alzheimer disease and age of onset	6.000000e-07
GCST009363_56	Triglyceride levels x short total sleep time interaction (2df test)	9.000000e-14
GCST009369_1	Triglyceride levels x short total sleep time interaction (1df test)	3.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004847	age at onset
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, decreases expression, affects cotreatment	2
Valproic Acid	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
resorcinol	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
clothianidin	decreases expression	1
abrine	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Coal	increases abundance, decreases expression	1
Dexamethasone	decreases expression, affects cotreatment	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	decreases expression	1
Gold	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Smoke	decreases expression, increases abundance	1
Tobacco Smoke Pollution	decreases expression	1
Vanadates	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	affects expression	1
Aflatoxin M1	decreases expression	1

Clinical trials (associated diseases)

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