ZNF71

gene
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Also known as Cos26EZFIT

Summary

ZNF71 (zinc finger protein 71, HGNC:13141) is a protein-coding gene on chromosome 19q13.4, encoding Endothelial zinc finger protein induced by tumor necrosis factor alpha (Q9NQZ8). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-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 58491 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 77 total
  • MANE Select transcript: NM_001370215

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13141
Approved symbolZNF71
Namezinc finger protein 71
Location19q13.4
Locus typegene with protein product
StatusApproved
AliasesCos26, EZFIT
Ensembl geneENSG00000197951
Ensembl biotypeprotein_coding
OMIM194545
Entrez58491

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000328070, ENST00000594944, ENST00000599599, ENST00000716547, ENST00000716548, ENST00000716549, ENST00000862326

RefSeq mRNA: 3 — MANE Select: NM_001370215 NM_001370214, NM_001370215, NM_021216

CCDS: CCDS12947, CCDS92695

Canonical transcript exons

ENST00000599599 — 4 exons

ExonStartEnd
ENSE000030222135661381256613938
ENSE000030767605662126856624486
ENSE000038349595660150756601591
ENSE000040300775659530256595428

Expression profiles

Bgee: expression breadth ubiquitous, 179 present calls, max score 83.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0921 / max 65.5286, expressed in 1566 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1777306.09211566
1777291.2955871

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099183.28gold quality
ganglionic eminenceUBERON:000402380.13gold quality
cortical plateUBERON:000534379.92gold quality
tibialis anteriorUBERON:000138577.71silver quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047377.44gold quality
stromal cell of endometriumCL:000225577.36gold quality
ventricular zoneUBERON:000305376.36gold quality
granulocyteCL:000009474.24gold quality
apex of heartUBERON:000209874.22gold quality
secondary oocyteCL:000065574.18gold quality
kidney epitheliumUBERON:000481973.72gold quality
lower esophagus muscularis layerUBERON:003583373.30gold quality
lower esophagusUBERON:001347373.28gold quality
gastrocnemiusUBERON:000138873.24gold quality
muscle of legUBERON:000138373.19gold quality
popliteal arteryUBERON:000225073.04gold quality
tibial arteryUBERON:000761073.02gold quality
prefrontal cortexUBERON:000045173.00gold quality
esophagogastric junction muscularis propriaUBERON:003584172.44gold quality
buccal mucosa cellCL:000233672.39gold quality
aortaUBERON:000094772.32gold quality
body of uterusUBERON:000985372.27gold quality
heart left ventricleUBERON:000208471.85gold quality
muscle layer of sigmoid colonUBERON:003580571.73gold quality
right coronary arteryUBERON:000162571.67gold quality
thoracic aortaUBERON:000151571.56gold quality
endothelial cellCL:000011571.43gold quality
hindlimb stylopod muscleUBERON:000425271.43gold quality
ascending aortaUBERON:000149671.40gold quality
cardiac ventricleUBERON:000208271.39gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no3.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting ZNF71, 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-511-3P99.9968.851467
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-426799.9666.532368
HSA-MIR-990299.8969.152250
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-1211999.8768.351653
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-379-3P99.6969.601524
HSA-MIR-411-3P99.6969.631524
HSA-MIR-6887-3P99.6667.831778
HSA-MIR-320299.6667.702737
HSA-MIR-3177-5P99.6570.381174
HSA-MIR-452-5P99.6569.631762
HSA-MIR-4676-3P99.6569.311733
HSA-MIR-892C-3P99.6569.381745
HSA-MIR-1249-5P99.6166.552049
HSA-MIR-6797-5P99.6166.552084
HSA-MIR-24-3P99.5969.971934
HSA-MIR-4649-3P99.5666.901783
HSA-MIR-317199.4969.06776
HSA-MIR-444199.4966.563216
HSA-MIR-6871-3P99.4368.85741
HSA-MIR-330-3P99.4169.952521
HSA-MIR-391199.3866.951087
HSA-MIR-569099.2567.581012

Literature-anchored findings (GeneRIF, showing 1)

  • Molecular Analysis of ZNF71 KRAB in Non-Small-Cell Lung Cancer. (PMID:33916522)

Cross-species orthologs

0 orthologs

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)

Protein

Protein identifiers

Endothelial zinc finger protein induced by tumor necrosis factor alphaQ9NQZ8 (reviewed: Q9NQZ8)

Alternative names: Zinc finger protein 71

All UniProt accessions (2): Q9NQZ8, M0R0C0

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Tissue specificity. Highly expressed in placenta, followed by brain, testis, pancreas, heart, small intestine, muscle, uterus, prostate and peripheral blood leukocytes. Not detected in liver, lung, colon, stomach, salivary and thyroid gland.

Induction. By TNF.

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

RefSeq proteins (3): NP_001357143, NP_001357144, NP_067039 (=MANE)

Domains & families (InterPro)

IDNameType
IPR013087Znf_C2H2_typeDomain
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR050752C2H2-ZF_domainFamily

Pfam: PF00096

UniProt features (20 total): zinc finger region 13, sequence variant 3, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NQZ8-F177.360.61

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-212436Generic Transcription Pathway

MSigDB gene sets: 32 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, BASAKI_YBX1_TARGETS_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, SENESE_HDAC3_TARGETS_DN, NUYTTEN_NIPP1_TARGETS_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, HORIUCHI_WTAP_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOMF_DNA_BINDING_TRANSCRIPTION_ACTIVATOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ZNF350_TARGET_GENES, ZNF92_TARGET_GENES, MIR4742_3P, MIR146A_3P, MIR3926

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), 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-1 pathways:

CategoryPathways
RNA Polymerase II Transcription1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transcription by RNA polymerase II2
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
regulation of DNA-templated transcription1
DNA-templated transcription1
regulation of gene expression1
regulation of RNA biosynthetic process1
regulation of transcription by RNA polymerase II1
positive regulation of DNA-templated transcription1
cis-regulatory region sequence-specific DNA binding1
DNA-binding transcription factor activity, RNA polymerase II-specific1
DNA-binding transcription activator activity1
positive regulation of transcription by RNA polymerase II1
transition metal ion binding1
nucleic acid binding1
binding1
cation binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

408 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF71C9JR48C9JR48895
ZNF71GCSAMLQ5JQS6429
ZNF71MTMR8Q96EF0428
ZNF71ALBP02768384
ZNF71CLVS1Q8IUQ0383
ZNF71CCDC71LQ8N9Z2383
ZNF71LONRF3Q496Y0360
ZNF71K7EJK4K7EJK4323
ZNF71MAST4O15021323
ZNF71CSTPP1Q9H6J7322
ZNF71FUT7Q11130321
ZNF71EEPD1Q7L9B9318
ZNF71SHISA6Q6ZSJ9314
ZNF71ZNF438Q7Z4V0312
ZNF71ASCC3Q8N3C0297

IntAct

84 interactions, top by confidence:

ABTypeScore
ZBTB24ZNF71psi-mi:“MI:0915”(physical association)0.740
ZNF71MAP3K20psi-mi:“MI:0915”(physical association)0.670
U2AF2ZNF71psi-mi:“MI:0915”(physical association)0.560
ZNF648ZNF71psi-mi:“MI:0915”(physical association)0.560
ZNF71PICK1psi-mi:“MI:0915”(physical association)0.560
ZBTB9ZNF71psi-mi:“MI:0915”(physical association)0.560
DVL3ZNF71psi-mi:“MI:0915”(physical association)0.560
FXR1ZNF71psi-mi:“MI:0915”(physical association)0.560
TRIM41ZNF71psi-mi:“MI:0915”(physical association)0.560
ZNF497ZNF71psi-mi:“MI:0915”(physical association)0.560
PGRMC1ZNF71psi-mi:“MI:0915”(physical association)0.560
PHF1ZNF71psi-mi:“MI:0915”(physical association)0.560
ZNF792ZNF71psi-mi:“MI:0915”(physical association)0.560
MFAP1ZNF71psi-mi:“MI:0915”(physical association)0.560
ZGPATZNF71psi-mi:“MI:0915”(physical association)0.560
SART3ZNF71psi-mi:“MI:0915”(physical association)0.560
LGALS14ZNF71psi-mi:“MI:0915”(physical association)0.560
ZNF71ZNF835psi-mi:“MI:0915”(physical association)0.560
PRPF31ZNF71psi-mi:“MI:0915”(physical association)0.560
ZNF417ZNF71psi-mi:“MI:0915”(physical association)0.560
ZNF524ZNF71psi-mi:“MI:0915”(physical association)0.560
BYSLZNF71psi-mi:“MI:0915”(physical association)0.560
ZNF71NVLpsi-mi:“MI:0914”(association)0.530
ZNF71DKC1psi-mi:“MI:0914”(association)0.530

BioGRID (107): ZNF71 (Two-hybrid), ZNF71 (Two-hybrid), ZFP2 (Affinity Capture-MS), HIST1H1A (Affinity Capture-MS), HIST1H1T (Affinity Capture-MS), ZNF75A (Affinity Capture-MS), RPS27A (Affinity Capture-MS), ZNF7 (Affinity Capture-MS), RPL36AL (Affinity Capture-MS), ZNF354A (Affinity Capture-MS), KIAA0020 (Affinity Capture-MS), CENPI (Affinity Capture-MS), RRP8 (Affinity Capture-MS), FBXO11 (Affinity Capture-MS), CENPN (Affinity Capture-MS)

ESM2 similar proteins: C9JN71, O75290, O75820, P08043, P0CJ79, P10076, P15620, P17017, P17021, P17027, P17039, P18714, P51523, Q08AN1, Q14587, Q3KP31, Q3ZCX4, Q4R4C7, Q52M93, Q5MCW4, Q5R5Q6, Q5R5U3, Q5R5Y7, Q5R9F0, Q5RB30, Q5RDX1, Q5REA0, Q5REI6, Q6P3V2, Q6ZN19, Q6ZN57, Q6ZNA1, Q7Z3V5, Q80W31, Q86UE3, Q86YE8, Q8BPP0, Q8C827, Q8N4W9, Q8NB50

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance73
Likely benign2
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

523 predictions. Top by Δscore:

VariantEffectΔscore
19:56601505:A:AGacceptor_gain0.9900
19:56601506:G:GGacceptor_gain0.9900
19:56601506:GCACT:Gacceptor_gain0.9900
19:56610073:C:Tdonor_gain0.9900
19:56613899:G:Tdonor_gain0.9900
19:56613922:G:GTdonor_gain0.9900
19:56613936:TGGG:Tdonor_loss0.9900
19:56613937:GG:Gdonor_gain0.9900
19:56613938:GG:Gdonor_gain0.9900
19:56613938:GGTA:Gdonor_loss0.9900
19:56613939:G:GGdonor_gain0.9900
19:56613939:GT:Gdonor_loss0.9900
19:56613940:T:Cdonor_loss0.9900
19:56621263:TTCA:Tacceptor_loss0.9900
19:56621266:A:ACacceptor_loss0.9900
19:56621266:A:AGacceptor_gain0.9900
19:56621267:G:GGacceptor_gain0.9900
19:56621267:GACT:Gacceptor_gain0.9900
19:56601506:GCA:Gacceptor_gain0.9800
19:56601589:CTGG:Cdonor_loss0.9800
19:56601590:TGGT:Tdonor_loss0.9800
19:56601592:G:GCdonor_loss0.9800
19:56601592:G:GGdonor_gain0.9800
19:56601593:T:TTdonor_loss0.9800
19:56601594:G:GAdonor_loss0.9800
19:56601595:AGT:Adonor_loss0.9800
19:56601596:G:Cdonor_loss0.9800
19:56613941:AAGGG:Adonor_loss0.9800
19:56621266:AGACT:Aacceptor_gain0.9800
19:56621267:GA:Gacceptor_gain0.9800

AlphaMissense

3636 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:56621870:T:CF195L0.999
19:56621872:C:AF195L0.999
19:56621872:C:GF195L0.999
19:56621954:T:CF223L0.999
19:56621956:C:AF223L0.999
19:56621956:C:GF223L0.999
19:56622038:T:CF251L0.999
19:56622040:C:AF251L0.999
19:56622040:C:GF251L0.999
19:56622072:G:CR262P0.999
19:56622122:T:CF279L0.999
19:56622124:C:AF279L0.999
19:56622124:C:GF279L0.999
19:56622206:T:CF307L0.999
19:56622208:C:AF307L0.999
19:56622208:C:GF307L0.999
19:56622290:T:CF335L0.999
19:56622292:C:AF335L0.999
19:56622292:C:GF335L0.999
19:56622374:T:CF363L0.999
19:56622376:C:AF363L0.999
19:56622376:C:GF363L0.999
19:56622542:T:CF419L0.999
19:56622544:C:AF419L0.999
19:56622544:C:GF419L0.999
19:56622626:T:CF447L0.999
19:56622628:C:AF447L0.999
19:56622628:C:GF447L0.999
19:56622645:T:CL453P0.999
19:56622710:T:CF475L0.999

dbSNP variants (sampled 300 via entrez): RS1000170376 (19:56611516 A>G), RS1000192778 (19:56603239 C>T), RS1000251394 (19:56603999 C>T), RS1000263698 (19:56611777 G>C), RS1000329047 (19:56610085 C>G), RS1000381277 (19:56610232 A>G), RS1000544451 (19:56617794 G>C), RS1000598922 (19:56593396 A>T), RS1000806896 (19:56605515 A>G), RS1000845335 (19:56593690 G>A), RS1000934597 (19:56622184 C>G), RS1001018853 (19:56616621 G>C), RS1001360652 (19:56603008 A>G), RS1001512187 (19:56616970 C>T), RS1001541884 (19:56609748 G>A)

Disease associations

OMIM: gene MIM:194545 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

StudyTraitp-value
GCST002122_2IgE levels in asthmatics8.000000e-06
GCST004068_26Venous thromboembolism adjusted for sickle cell variant rs77121243-T3.000000e-06
GCST008876_7Non-lobar intracerebral hemorrhage (MTAG)7.000000e-06
GCST90002388_383Lymphocyte count7.000000e-10

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0010178non-lobar intracerebral hemorrhage
EFO:0004587lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

ChemicalActions (top 5)PubMed papers
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
sodium arsenitedecreases expression1
cobaltous chlorideincreases expression1
CGP 52608affects binding, increases reaction1
2-palmitoylglycerolincreases expression1
abrinedecreases expression1
Grape Seed Proanthocyanidinsaffects cotreatment, increases expression1
jinfukangincreases expression1
Leflunomidedecreases expression1
Benzo(a)pyreneaffects methylation1
Catechinaffects cotreatment, increases expression1
Doxorubicindecreases expression1
Gallic Aciddecreases expression1
Dronabinolincreases glycosylation1
Tobacco Smoke Pollutionincreases expression1
Urethaneincreases expression1
Valproic Acidincreases methylation1
Antirheumatic Agentsaffects expression1
Cadmium Chloridedecreases expression1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_XW79HEK293 eGFP-ZNF71Transformed 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): venous thromboembolism