ZNF800

gene
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Summary

ZNF800 (zinc finger protein 800, HGNC:27267) is a protein-coding gene on chromosome 7q31.33, encoding Zinc finger protein 800 (Q2TB10). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within acinar cell differentiation and endocrine pancreas development. Predicted to be located in nucleus.

Source: NCBI Gene 168850 — RefSeq curated summary.

At a glance

  • GWAS associations: 33
  • Clinical variants (ClinVar): 71 total
  • MANE Select transcript: NM_176814

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:27267
Approved symbolZNF800
Namezinc finger protein 800
Location7q31.33
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000048405
Ensembl biotypeprotein_coding
OMIM621007
Entrez168850

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000265827, ENST00000393312, ENST00000393313, ENST00000434602, ENST00000436992, ENST00000439506, ENST00000485577, ENST00000883726, ENST00000912485, ENST00000968374

RefSeq mRNA: 1 — MANE Select: NM_176814 NM_176814

CCDS: CCDS5795

Canonical transcript exons

ENST00000265827 — 6 exons

ExonStartEnd
ENSE00000364881127377186127377329
ENSE00000882277127391497127391615
ENSE00000882278127386060127386155
ENSE00001209000127373342127375034
ENSE00001514790127370043127371814
ENSE00003849459127392060127392708

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 88.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.5846 / max 314.0702, expressed in 1822 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
8602935.91101819
860301.4757856
860280.8032449
860260.6475249
860230.6092316
860250.4172150
860240.3656151
860270.3551123

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
bone marrow cellCL:000209288.99gold quality
calcaneal tendonUBERON:000370188.94gold quality
islet of LangerhansUBERON:000000687.45gold quality
leukocyteCL:000073886.61gold quality
monocyteCL:000057686.48gold quality
lower esophagus mucosaUBERON:003583486.12gold quality
adrenal tissueUBERON:001830385.83gold quality
bone marrowUBERON:000237184.87gold quality
granulocyteCL:000009484.84gold quality
skin of legUBERON:000151184.62gold quality
left ventricle myocardiumUBERON:000656684.59gold quality
smooth muscle tissueUBERON:000113584.55gold quality
pancreatic ductal cellCL:000207984.35silver quality
lymph nodeUBERON:000002984.35gold quality
cardiac muscle of right atriumUBERON:000337984.33gold quality
skin of abdomenUBERON:000141684.20gold quality
right lungUBERON:000216784.05gold quality
vermiform appendixUBERON:000115483.93gold quality
pancreasUBERON:000126483.89gold quality
colonic epitheliumUBERON:000039783.82gold quality
rectumUBERON:000105283.45gold quality
gall bladderUBERON:000211083.34gold quality
bloodUBERON:000017883.29gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047383.14gold quality
zone of skinUBERON:000001482.99gold quality
omental fat padUBERON:001041482.46gold quality
peritoneumUBERON:000235882.41gold quality
tendonUBERON:000004382.38gold quality
ventricular zoneUBERON:000305382.30gold quality
upper lobe of left lungUBERON:000895282.25gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes7.54

Regulation

Is transcription factor: yes

JASPAR motifs

MotifNameFamily
MA2571.1ZNF800Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605368

miRNA regulators (miRDB)

231 targeting ZNF800, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-4262100.0073.263931
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-3646100.0073.565283
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-656-3P100.0072.152788
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-5692A100.0074.406850
HSA-MIR-428299.9975.366408
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-366299.9973.825684
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-186-5P99.9970.833707
HSA-MIR-548N99.9871.944170
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-3692-3P99.9870.272139
HSA-MIR-56899.9869.862084

Literature-anchored findings (GeneRIF, showing 1)

  • Unbiased transcription factor CRISPR screen identifies ZNF800 as master repressor of enteroendocrine differentiation. (PMID:37883554)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioznf800aENSDARG00000004594
danio_rerioznf800bENSDARG00000039843
mus_musculusZfp800ENSMUSG00000039841
rattus_norvegicusZfp800ENSRNOG00000007662
drosophila_melanogasterCG10979FBGN0037379

Protein

Protein identifiers

Zinc finger protein 800Q2TB10 (reviewed: Q2TB10)

All UniProt accessions (4): C9JHX9, C9JLY3, C9K0M9, Q2TB10

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 (1): NP_789784* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR013087Znf_C2H2_typeDomain
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR039149ZNF800Family
IPR041697Znf-C2H2_11Domain
IPR059121CCHC_ZFPM2-likeDomain

Pfam: PF00096, PF16622, PF16624, PF25445

UniProt features (37 total): modified residue 9, zinc finger region 7, compositionally biased region 7, cross-link 7, region of interest 5, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q2TB10-F162.590.09

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 (16): 317, 319, 336, 422, 426, 455, 457, 460, 462, 132, 279, 392, 409, 409, 476, 599

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 192 (showing top): LFA1_Q6, CMYB_01, GGGTGGRR_PAX4_03, NFKB_C, GATA3_01, FOSTER_TOLERANT_MACROPHAGE_UP, GATA1_01, ATTACAT_MIR3803P, ACATTCC_MIR1_MIR206, HIF1_Q3, AACTTT_UNKNOWN, MYB_Q3, RYTTCCTG_ETS2_B, ELK1_01, P300_01

GO Biological Process (3): endocrine pancreas development (GO:0031018), acinar cell differentiation (GO:0090425), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (4): DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

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

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
pancreas development1
endocrine system development1
anatomical structure development1
glandular epithelial cell differentiation1
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
nucleic acid binding1
transcription cis-regulatory region binding1
regulation of DNA-templated transcription1
transcription regulator activity1
transition metal ion binding1
cation binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

382 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF800MYNNQ9NPC7439
ZNF800ZNF532Q9HCE3430
ZNF800DCBLD2Q96PD2397
ZNF800ZC3H4Q9UPT8370
ZNF800PCMT1P22061367
ZNF800RFX7Q2KHR2360
ZNF800SEC24CP53992359
ZNF800AKTIPQ9H8T0355
ZNF800SLC13A3Q8WWT9353
ZNF800BRSK1Q8TDC3330
ZNF800CNOT6LQ96LI5305
ZNF800MAPK15Q8TD08301
ZNF800APRTP07741280
ZNF800MMDQ15546276
ZNF800KRT9P35527269

IntAct

50 interactions, top by confidence:

ABTypeScore
HDAC2KDM1Apsi-mi:“MI:0914”(association)0.890
HDAC1CDK2AP1psi-mi:“MI:0914”(association)0.840
HDAC1TNRC18psi-mi:“MI:0914”(association)0.790
DYNLL1BLTP3Bpsi-mi:“MI:0914”(association)0.730
HDAC1ZNF609psi-mi:“MI:0914”(association)0.730
RBBP7HAT1psi-mi:“MI:0914”(association)0.730
ZNF800MTA2psi-mi:“MI:0914”(association)0.610
NPM1NVLpsi-mi:“MI:0914”(association)0.610
NPM1MPHOSPH10psi-mi:“MI:0914”(association)0.610
MECP2GTPBP10psi-mi:“MI:0914”(association)0.530
RRP8NVLpsi-mi:“MI:0914”(association)0.530
ZNF2MPHOSPH10psi-mi:“MI:0914”(association)0.530
PRR11NVLpsi-mi:“MI:0914”(association)0.530
MAGEB2GTPBP10psi-mi:“MI:0914”(association)0.530
HSPA8ZNF800psi-mi:“MI:0915”(physical association)0.400
ZNF800H3-4psi-mi:“MI:0915”(physical association)0.400
VPS16IPO7psi-mi:“MI:0914”(association)0.350
TM9SF4psi-mi:“MI:0914”(association)0.350
Fbxo21ESYT2psi-mi:“MI:0914”(association)0.350
CNTROBCENPXpsi-mi:“MI:0914”(association)0.350
ESR1ESYT2psi-mi:“MI:0914”(association)0.350
DGCR8MPHOSPH10psi-mi:“MI:0914”(association)0.350
CNBPNOP56psi-mi:“MI:0914”(association)0.350
NPM1NVLpsi-mi:“MI:0914”(association)0.350
ADARB1GTPBP10psi-mi:“MI:0914”(association)0.350

BioGRID (61): ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), ZNF800 (Affinity Capture-MS), MTA2 (Affinity Capture-MS), MTA3 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IXF6, A0JMR6, A5WW08, F4HRV8, O17482, O60934, O88974, O94988, P12757, P14629, P49021, P79457, Q08AW4, Q08D35, Q12789, Q28C33, Q2TB10, Q3B7T1, Q3UD82, Q3UWM4, Q498F0, Q5F363, Q5F3F2, Q5FWP4, Q5HYC2, Q5JSH3, Q5R431, Q5R7T9, Q5R9R1, Q5RGA4, Q5VVJ2, Q60665, Q63505, Q69Z66, Q6GQV7, Q6INA9, Q6NVE8, Q6P256, Q6ZMT4, Q8C5W4

Diamond homologs: Q0VEE6, Q2TB10

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Regulation of TP53 Activity through Acetylation555.7×6e-06
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2546.4×8e-06
RNA Polymerase I Transcription Initiation527.3×3e-05
Regulation of PTEN gene transcription626.1×8e-06
NuRD complex assembly620.6×2e-05
Interaction of NuRD complexes with transcription factors618.6×3e-05
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression518.6×2e-04
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)517.9×2e-04

GO biological processes:

GO termPartnersFoldFDR
regulation of stem cell differentiation567.2×2e-06
rRNA processing512.4×2e-03
nucleosome assembly512.3×2e-03
chromatin remodeling810.2×1e-04
negative regulation of cell migration59.8×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance61
Likely benign2
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

980 predictions. Top by Δscore:

VariantEffectΔscore
7:127375032:GGT:Gacceptor_gain1.0000
7:127375032:GGTCT:Gacceptor_loss1.0000
7:127375033:GT:Gacceptor_gain1.0000
7:127375033:GTC:Gacceptor_loss1.0000
7:127375034:TC:Tacceptor_loss1.0000
7:127375035:C:CCacceptor_gain1.0000
7:127375035:CT:Cacceptor_loss1.0000
7:127375036:T:Gacceptor_loss1.0000
7:127377184:A:ACdonor_gain1.0000
7:127377185:C:CGdonor_gain1.0000
7:127377185:CT:Cdonor_gain1.0000
7:127377185:CTGT:Cdonor_gain1.0000
7:127377326:GTTC:Gacceptor_gain1.0000
7:127377327:TTC:Tacceptor_gain1.0000
7:127377328:TC:Tacceptor_gain1.0000
7:127377329:CC:Cacceptor_gain1.0000
7:127377330:C:CCacceptor_gain1.0000
7:127375030:AAGGT:Aacceptor_gain0.9900
7:127375031:AGGT:Aacceptor_gain0.9900
7:127377180:ACTT:Adonor_loss0.9900
7:127377182:TT:Tdonor_loss0.9900
7:127377183:TACTG:Tdonor_loss0.9900
7:127377184:ACTGT:Adonor_gain0.9900
7:127377185:C:Adonor_loss0.9900
7:127377185:CTG:Cdonor_gain0.9900
7:127377185:CTGTC:Cdonor_gain0.9900
7:127392058:A:ACdonor_gain0.9900
7:127392059:C:CCdonor_gain0.9900
7:127392059:CTCAA:Cdonor_gain0.9900
7:127375038:T:Cacceptor_gain0.9800

AlphaMissense

4384 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:127373725:A:CH537Q1.000
7:127373725:A:TH537Q1.000
7:127373727:G:CH537D1.000
7:127373729:C:GR536P1.000
7:127373747:C:GR530P1.000
7:127373764:G:CC524W1.000
7:127373765:C:AC524F1.000
7:127373765:C:GC524S1.000
7:127373765:C:TC524Y1.000
7:127373766:A:GC524R1.000
7:127373766:A:TC524S1.000
7:127373773:A:CC521W1.000
7:127373774:C:GC521S1.000
7:127373775:A:GC521R1.000
7:127373775:A:TC521S1.000
7:127373812:G:CH508Q1.000
7:127373812:G:TH508Q1.000
7:127373813:T:CH508R1.000
7:127373814:G:CH508D1.000
7:127373814:G:TH508N1.000
7:127373824:G:CH504Q1.000
7:127373824:G:TH504Q1.000
7:127373825:T:CH504R1.000
7:127373825:T:GH504P1.000
7:127373826:G:CH504D1.000
7:127373826:G:TH504N1.000
7:127373834:A:CL501W1.000
7:127373834:A:GL501S1.000
7:127373851:A:CF495L1.000
7:127373851:A:TF495L1.000

dbSNP variants (sampled 300 via entrez): RS1000032664 (7:127360143 A>G), RS1000048916 (7:127384725 A>G), RS1000066653 (7:127389212 T>C,G), RS1000162704 (7:127366185 G>A,T), RS1000194624 (7:127362720 G>A), RS1000209212 (7:127347227 G>C), RS1000211452 (7:127369637 T>C), RS1000263930 (7:127370182 T>C), RS1000338403 (7:127383572 T>A), RS1000378191 (7:127376675 T>C), RS1000456515 (7:127391071 T>C), RS1000518151 (7:127343496 G>A), RS1000644637 (7:127371536 G>A), RS1000648169 (7:127386488 G>A), RS1000746379 (7:127372819 T>A)

Disease associations

OMIM: gene MIM:621007 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

33 associations (top):

StudyTraitp-value
GCST003818_9Resting heart rate4.000000e-10
GCST006288_121Heel bone mineral density7.000000e-10
GCST006288_655Heel bone mineral density3.000000e-16
GCST006288_763Heel bone mineral density1.000000e-07
GCST006979_214Heel bone mineral density7.000000e-45
GCST007325_208General risk tolerance (MTAG)2.000000e-08
GCST007325_236General risk tolerance (MTAG)5.000000e-09
GCST009391_1775Metabolite levels7.000000e-07
GCST009391_1778Metabolite levels3.000000e-06
GCST009652_10Serum alkaline phosphatase levels7.000000e-09
GCST009963_8Cataracts (operation)2.000000e-08
GCST011353_47Serum alkaline phosphatase levels5.000000e-10
GCST012013_23Cataracts2.000000e-12
GCST90000025_309Appendicular lean mass3.000000e-27
GCST90000026_11Appendicular lean mass5.000000e-10
GCST90000027_37Appendicular lean mass2.000000e-20
GCST90002388_401Lymphocyte count4.000000e-12
GCST90002389_162Lymphocyte percentage of white cells2.000000e-09
GCST90002389_163Lymphocyte percentage of white cells7.000000e-18
GCST90002391_225Mean corpuscular hemoglobin concentration4.000000e-09
GCST90002399_185Neutrophil percentage of white cells3.000000e-09
GCST90002399_186Neutrophil percentage of white cells2.000000e-14
GCST90002405_490Reticulocyte count2.000000e-09
GCST90002406_258Reticulocyte fraction of red cells4.000000e-10
GCST90007307_5circulating leptin levels8.000000e-08
GCST90007310_5circulating leptin levels8.000000e-08
GCST90007319_5circulating leptin levels adjusted for BMI2.000000e-12
GCST90007320_3circulating leptin levels adjusted for BMI7.000000e-08
GCST90007321_2circulating leptin levels adjusted for BMI2.000000e-07
GCST90007322_1circulating leptin levels adjusted for BMI3.000000e-12

EFO canonical traits (14, from GWAS)

EFO IDTrait name
EFO:0009270heel bone mineral density
EFO:0008579risk-taking behaviour
EFO:0010457Alpha ketoglutarate measurement
EFO:0010480fumarate measurement
EFO:0010509maleate measurement
EFO:0004533alkaline phosphatase measurement
EFO:0004980appendicular lean mass
EFO:0004587lymphocyte count
EFO:0007993lymphocyte percentage of leukocytes
EFO:0004528mean corpuscular hemoglobin concentration
EFO:0007990neutrophil percentage of leukocytes
EFO:0007986reticulocyte count
EFO:0005000leptin measurement
EFO:0007793BMI-adjusted leptin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects methylation, increases abundance, increases expression3
Tetrachlorodibenzodioxindecreases expression, affects expression, affects cotreatment2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamidedecreases expression1
FR900359affects phosphorylation1
TAK-243decreases sumoylation1
triphenyl phosphateaffects expression1
bisphenol Adecreases methylation1
arseniteaffects binding, decreases reaction1
maleic aciddecreases expression1
di-n-butylphosphoric acidaffects expression1
torcetrapibincreases expression1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amideaffects cotreatment, decreases expression1
jinfukangdecreases expression1
Sunitinibincreases expression1
Vorinostatdecreases expression1
Arsenicincreases expression, increases abundance1
Atrazinedecreases expression1
Benzo(a)pyreneaffects methylation1
Cadmiumdecreases expression, increases abundance1
Caffeinedecreases phosphorylation1
Cisplatindecreases expression1
Doxorubicindecreases expression1
Estradiolincreases expression1
Phthalic Acidsdecreases methylation1
Thiramincreases expression1
Tobacco Smoke Pollutionincreases expression1
Urethaneincreases expression1
Cyclosporineincreases expression1
Cadmium Chloridedecreases expression, increases abundance1
Copper Sulfateincreases expression1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_HD45HEK293 eGFP-ZNF800Transformed cell lineFemale

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cataract