ZNF831

gene
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Also known as dJ492J12.1

Summary

ZNF831 (zinc finger protein 831, HGNC:16167) is a protein-coding gene on chromosome 20q13.32, encoding Zinc finger protein 831 (Q5JPB2).

Predicted to enable zinc ion binding activity.

Source: NCBI Gene 128611 — RefSeq curated summary.

At a glance

  • GWAS associations: 38
  • Clinical variants (ClinVar): 271 total
  • MANE Select transcript: NM_178457

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16167
Approved symbolZNF831
Namezinc finger protein 831
Location20q13.32
Locus typegene with protein product
StatusApproved
AliasesdJ492J12.1
Ensembl geneENSG00000124203
Ensembl biotypeprotein_coding
Entrez128611

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000371030, ENST00000610729, ENST00000637017

RefSeq mRNA: 2 — MANE Select: NM_178457 NM_001384354, NM_178457

CCDS: CCDS42894

Canonical transcript exons

ENST00000371030 — 6 exons

ExonStartEnd
ENSE000012884505925297859253138
ENSE000012884585920690559207056
ENSE000012884655919586959196005
ENSE000014541575925389859259113
ENSE000037927785919098459194757
ENSE000039181535916382159164207

Expression profiles

Bgee: expression breadth ubiquitous, 113 present calls, max score 78.89.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.2922 / max 193.6633, expressed in 131 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
1856081.9067118
1856010.142548
1856100.090049
1856090.081243
1856020.071936

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
granulocyteCL:000009478.89gold quality
lymph nodeUBERON:000002974.65gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047371.45gold quality
bloodUBERON:000017870.71gold quality
vermiform appendixUBERON:000115468.48gold quality
spleenUBERON:000210666.56gold quality
bone marrow cellCL:000209264.23silver quality
superficial temporal arteryUBERON:000161463.47gold quality
colonic epitheliumUBERON:000039763.08silver quality
caecumUBERON:000115362.37gold quality
tonsilUBERON:000237262.22gold quality
small intestine Peyer’s patchUBERON:000345458.12gold quality
prefrontal cortexUBERON:000045158.07gold quality
nucleus accumbensUBERON:000188257.72gold quality
small intestineUBERON:000210856.79gold quality
epithelium of nasopharynxUBERON:000195156.29silver quality
gall bladderUBERON:000211055.60gold quality
Brodmann (1909) area 9UBERON:001354054.28gold quality
anterior cingulate cortexUBERON:000983553.12gold quality
oral cavityUBERON:000016753.04silver quality
frontal cortexUBERON:000187052.94gold quality
amniotic fluidUBERON:000017352.74gold quality
bone marrowUBERON:000237152.74gold quality
mucosa of transverse colonUBERON:000499152.46gold quality
neocortexUBERON:000195052.15gold quality
rectumUBERON:000105251.80gold quality
right frontal lobeUBERON:000281051.73gold quality
amygdalaUBERON:000187651.59gold quality
cerebellar vermisUBERON:000472051.40gold quality
dorsolateral prefrontal cortexUBERON:000983451.03gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes7.42

Regulation

Is transcription factor: yes

JASPAR motifs

MotifNameFamily
MA2534.1ZNF831Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605320

miRNA regulators (miRDB)

161 targeting ZNF831, 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-340-5P100.0072.504437
HSA-MIR-3163100.0077.238605
HSA-MIR-4668-3P100.0068.742635
HSA-MIR-4533100.0069.482758
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-4673100.0066.641490
HSA-MIR-5692A100.0074.406850
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-3646100.0073.565283
HSA-MIR-453199.9969.703181
HSA-MIR-186-5P99.9970.833707
HSA-MIR-366299.9973.825684
HSA-MIR-428299.9975.366408
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-19A-3P99.9875.332762
HSA-MIR-19B-3P99.9875.442754
HSA-MIR-477599.9875.006394
HSA-MIR-4645-5P99.9865.811284
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-569699.9872.364487
HSA-MIR-314899.9775.066478
HSA-MIR-211099.9666.681930
HSA-MIR-4725-3P99.9669.532520

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioznf831ENSDARG00000074906
mus_musculusZfp831ENSMUSG00000050600
rattus_norvegicusZfp831ENSRNOG00000024693

Paralogs (14): HIVEP2 (ENSG00000010818), HIVEP1 (ENSG00000095951), SALL4 (ENSG00000101115), ZNF516 (ENSG00000101493), SALL1 (ENSG00000103449), BCL11A (ENSG00000119866), RREB1 (ENSG00000124782), HIVEP3 (ENSG00000127124), BCL11B (ENSG00000127152), ZNF219 (ENSG00000165804), SALL2 (ENSG00000165821), ZNF217 (ENSG00000171940), ZNF536 (ENSG00000198597), SALL3 (ENSG00000256463)

Protein

Protein identifiers

Zinc finger protein 831Q5JPB2 (reviewed: Q5JPB2)

All UniProt accessions (1): Q5JPB2

RefSeq proteins (2): NP_001371283, NP_848552* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR013087Znf_C2H2_typeDomain
IPR036236Znf_C2H2_sfHomologous_superfamily

Pfam: PF00096

UniProt features (31 total): compositionally biased region 13, region of interest 11, sequence variant 3, zinc finger region 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
8FUFX-RAY DIFFRACTION3.69

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5JPB2-F137.920.04

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 57 (showing top): GOZGIT_ESR1_TARGETS_UP, NIKOLSKY_BREAST_CANCER_20Q12_Q13_AMPLICON, KUMAR_PATHOGEN_LOAD_BY_MACROPHAGES, KUMAR_AUTOPHAGY_NETWORK, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MAML1_TARGET_GENES, MIR340_5P, MIR4328, MIR19A_3P, MIR19B_3P, MIR4719, MIR142_5P, MIR3119, MIR218_5P, MIR1323

GO Biological Process (0):

GO Molecular Function (2): zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transition metal ion binding1
cation binding1

Protein interactions and networks

STRING

1134 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF831PRELID3BQ9Y3B1543
ZNF831JAKMIP2Q96AA8490
ZNF831ZNF687Q8N1G0453
ZNF831PLBD1Q6P4A8451
ZNF831ARHGAP9Q9BRR9443
ZNF831GRAP2O75791441
ZNF831ANKRD22Q5VYY1436
ZNF831OR5M11Q96RB7429
ZNF831MAP4K5Q9Y4K4411
ZNF831NEIL3Q8TAT5403
ZNF831BLKP51451398
ZNF831RBM10P98175398
ZNF831SPTA1P02549394
ZNF831CABCOCO1Q8IVU9391
ZNF831IL2RGP31785388

IntAct

117 interactions, top by confidence:

ABTypeScore
HTRA1ZNF831psi-mi:“MI:0407”(direct interaction)0.440
ZNF831PARD3psi-mi:“MI:0407”(direct interaction)0.440
ZNF831HTRA4psi-mi:“MI:0407”(direct interaction)0.440
ZNF831PATJpsi-mi:“MI:0407”(direct interaction)0.440
ZNF831LNX2psi-mi:“MI:0407”(direct interaction)0.440
ZNF831GORASP2psi-mi:“MI:0407”(direct interaction)0.440
ZNF831GORASP1psi-mi:“MI:0407”(direct interaction)0.440
ZNF831WHRNpsi-mi:“MI:0407”(direct interaction)0.440
ZNF831MAST2psi-mi:“MI:0407”(direct interaction)0.440
ZNF831ARHGEF11psi-mi:“MI:0407”(direct interaction)0.440
RADILZNF831psi-mi:“MI:0407”(direct interaction)0.440
ZNF831HTRA3psi-mi:“MI:0407”(direct interaction)0.440
ZNF831DLG3psi-mi:“MI:0407”(direct interaction)0.440
APBA3ZNF831psi-mi:“MI:0407”(direct interaction)0.440
ZNF831MAST1psi-mi:“MI:0407”(direct interaction)0.440
ZNF831FRMPD2psi-mi:“MI:0407”(direct interaction)0.440
ZNF831GIPC2psi-mi:“MI:0407”(direct interaction)0.440
ZNF831PTPN13psi-mi:“MI:0407”(direct interaction)0.440
ZNF831MPP2psi-mi:“MI:0407”(direct interaction)0.440
ZNF831PDZRN4psi-mi:“MI:0407”(direct interaction)0.440
ZNF831PDZD7psi-mi:“MI:0407”(direct interaction)0.440
ZNF831ARHGAP21psi-mi:“MI:0407”(direct interaction)0.440
ZNF831DLG4psi-mi:“MI:0407”(direct interaction)0.440
ZNF831SNTA1psi-mi:“MI:0407”(direct interaction)0.440
ZNF831MPDZpsi-mi:“MI:0407”(direct interaction)0.440
ZNF831NHERF4psi-mi:“MI:0407”(direct interaction)0.440
ZNF831MAGI3psi-mi:“MI:0407”(direct interaction)0.440
ZNF831PALS2psi-mi:“MI:0407”(direct interaction)0.440
ZNF831TAX1BP3psi-mi:“MI:0407”(direct interaction)0.440

BioGRID (7): ZNF831 (Affinity Capture-MS), ZNF831 (Affinity Capture-MS), ZNF831 (Affinity Capture-MS), ZNF831 (Affinity Capture-RNA), ZNF831 (Cross-Linking-MS (XL-MS)), ZNF831 (Affinity Capture-MS), ZNF831 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944

Diamond homologs: A1L2U9, A2A884, A2ANX9, A7Y7X5, B0X9H6, B0YDH7, B1WAZ8, B1WBU4, O35615, O62836, O77459, P08048, P10925, P15822, P17010, P17012, P20662, P31505, P31629, P60319, P78871, P80944, Q00900, Q01611, Q02031, Q03172, Q0IH98, Q0VCJ6, Q292R5, Q29419, Q3UHF7, Q52V16, Q5JPB2, Q5T1R4, Q6B4Z5, Q7JM44, Q811F1, Q86UZ6, Q8BID6, Q8CII0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 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
Ras activation upon Ca2+ influx through NMDA receptor557.1×1e-06
Unblocking of NMDA receptors, glutamate binding and activation554.4×1e-06
Negative regulation of NMDA receptor-mediated neuronal transmission554.4×1e-06
Long-term potentiation547.6×2e-06
Assembly and cell surface presentation of NMDA receptors945.7×2e-11
Neurexins and neuroligins1039.4×9e-12
Protein-protein interactions at synapses631.9×1e-06
Neuronal System65.3×1e-02

GO biological processes:

GO termPartnersFoldFDR
establishment or maintenance of epithelial cell apical/basal polarity1080.7×1e-14
protein localization to synapse663.8×4e-08
receptor clustering760.7×4e-09
regulation of postsynaptic membrane neurotransmitter receptor levels748.2×2e-08
protein-containing complex assembly914.2×1e-06
cell-cell adhesion1014.1×2e-07
protein localization to plasma membrane57.5×9e-03
chemical synaptic transmission77.5×1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance222
Likely benign24
Benign11

Top pathogenic / likely-pathogenic (0)

SpliceAI

1341 predictions. Top by Δscore:

VariantEffectΔscore
20:59195867:A:AGacceptor_gain0.9900
20:59195868:G:GGacceptor_gain0.9900
20:59207052:AGCAG:Adonor_loss0.9900
20:59207053:GCAGG:Gdonor_loss0.9900
20:59207054:CAGG:Cdonor_loss0.9900
20:59207055:AGG:Adonor_loss0.9900
20:59207056:GGTAA:Gdonor_loss0.9900
20:59207057:G:Tdonor_loss0.9900
20:59207058:T:Adonor_loss0.9900
20:59253053:A:Tdonor_gain0.9800
20:59253115:G:Tdonor_gain0.9800
20:59192834:G:GTdonor_gain0.9700
20:59192958:G:Tdonor_gain0.9700
20:59194606:C:CAacceptor_gain0.9700
20:59253886:A:AGacceptor_gain0.9700
20:59206899:CTACA:Cacceptor_loss0.9600
20:59206900:TACAG:Tacceptor_loss0.9600
20:59206902:CAGGT:Cacceptor_loss0.9600
20:59206903:AGG:Aacceptor_loss0.9600
20:59206904:G:GAacceptor_loss0.9600
20:59212389:C:Gdonor_gain0.9600
20:59252972:TTGCA:Tacceptor_loss0.9600
20:59252973:TGCA:Tacceptor_loss0.9600
20:59252974:GCAGG:Gacceptor_loss0.9600
20:59252975:CAGGT:Cacceptor_loss0.9600
20:59252976:A:ACacceptor_loss0.9600
20:59252977:G:Aacceptor_loss0.9600
20:59253052:G:GTdonor_gain0.9600
20:59192925:A:Tdonor_gain0.9500
20:59207053:GCAG:Gdonor_gain0.9500

AlphaMissense

10726 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
20:59191455:T:CC146R0.999
20:59191560:T:CF181L0.999
20:59191561:T:CF181S0.999
20:59191562:T:AF181L0.999
20:59191562:T:GF181L0.999
20:59191565:G:CK182N0.999
20:59191565:G:TK182N0.999
20:59191584:A:GK189E0.999
20:59191586:G:CK189N0.999
20:59191586:G:TK189N0.999
20:59191503:C:GH162D0.998
20:59191505:C:AH162Q0.998
20:59191505:C:GH162Q0.998
20:59191510:G:CR164P0.998
20:59191515:C:GH166D0.998
20:59191517:C:AH166Q0.998
20:59191517:C:GH166Q0.998
20:59191539:T:CC174R0.998
20:59191563:A:GK182E0.998
20:59191577:T:AN186K0.998
20:59191577:T:GN186K0.998
20:59191587:C:GH190D0.998
20:59191533:T:CF172L0.997
20:59191535:C:AF172L0.997
20:59191535:C:GF172L0.997
20:59191560:T:AF181I0.997
20:59191572:A:CS185R0.997
20:59191574:C:AS185R0.997
20:59191574:C:GS185R0.997
20:59191579:T:CL187P0.997

dbSNP variants (sampled 300 via entrez): RS1000004268 (20:59167610 A>C), RS1000030774 (20:59142514 G>A), RS1000043647 (20:59124341 C>A), RS1000083124 (20:59186341 G>A,C,T), RS1000105347 (20:59124174 C>A), RS1000123041 (20:59227871 A>C,G), RS1000144065 (20:59222914 G>A), RS1000177126 (20:59228176 A>G), RS1000301936 (20:59141193 C>A), RS1000307847 (20:59222423 T>C), RS1000322274 (20:59181327 G>A,C), RS1000362087 (20:59228259 T>G), RS1000383916 (20:59222326 C>G), RS1000388951 (20:59129792 G>A), RS1000412332 (20:59135722 C>T)

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

38 associations (top):

StudyTraitp-value
GCST000398_3Hypertension2.000000e-07
GCST000514_10Response to antipsychotic therapy (extrapyramidal side effects)7.000000e-06
GCST001725_67Inflammatory bowel disease1.000000e-12
GCST003025_10Attention function in attention deficit hyperactive disorder3.000000e-06
GCST004131_56Inflammatory bowel disease3.000000e-09
GCST004132_76Crohn’s disease4.000000e-07
GCST004616_169Platelet distribution width1.000000e-09
GCST005537_57Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)4.000000e-12
GCST006166_111Diastolic blood pressure x alcohol consumption interaction (2df test)6.000000e-34
GCST006166_73Diastolic blood pressure x alcohol consumption interaction (2df test)2.000000e-26
GCST006167_23Mean arterial pressure x alcohol consumption interaction (2df test)4.000000e-15
GCST006167_82Mean arterial pressure x alcohol consumption interaction (2df test)4.000000e-12
GCST006169_29Diastolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)4.000000e-11
GCST006172_15Mean arterial pressure x alcohol consumption (light vs heavy) interaction (2df test)8.000000e-10
GCST006187_45Diastolic blood pressure (cigarette smoking interaction)7.000000e-37
GCST006188_15Systolic blood pressure (cigarette smoking interaction)3.000000e-22
GCST006231_6Mean arterial pressure1.000000e-17
GCST006434_19Systolic blood pressure x alcohol consumption interaction (2df test)6.000000e-21
GCST006434_93Systolic blood pressure x alcohol consumption interaction (2df test)4.000000e-19
GCST006988_35Blond vs. brown/black hair color4.000000e-13
GCST006989_56Brown vs. black hair color2.000000e-12
GCST007094_231Diastolic blood pressure3.000000e-27
GCST007095_85Systolic blood pressure9.000000e-06
GCST007096_229Pulse pressure8.000000e-06
GCST007099_188Systolic blood pressure7.000000e-20
GCST007267_159Systolic blood pressure2.000000e-15
GCST007927_9Medication use (beta blocking agents)1.000000e-12
GCST007928_49Medication use (diuretics)1.000000e-16
GCST007929_69Medication use (calcium channel blockers)8.000000e-12
GCST007930_63Medication use (agents acting on the renin-angiotensin system)4.000000e-28

EFO canonical traits (17, from GWAS)

EFO IDTrait name
EFO:0007636attention function measurement
EFO:0007984platelet component distribution width
EFO:0004329alcohol drinking
EFO:0006336diastolic blood pressure
EFO:0006340mean arterial pressure
EFO:0006527smoking status measurement
EFO:0006335systolic blood pressure
EFO:0003924hair color
EFO:0005763pulse pressure measurement
EFO:0009929Beta blocking agent use measurement
EFO:0009928Diuretic use measurement
EFO:0009930Calcium channel blocker use measurement
EFO:0009931Agents acting on the renin-angiotensin system use measurement
EFO:0005665white matter hyperintensity measurement
EFO:0004587lymphocyte count
EFO:0007993lymphocyte percentage of leukocytes
EFO:0007990neutrophil percentage of leukocytes

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
Benzo(a)pyreneaffects methylation, decreases methylation2
Cadmiumincreases abundance, decreases expression2
Aflatoxin B1increases methylation2
GSK-J4decreases expression1
triphenyl phosphateaffects expression1
sulforaphanedecreases expression1
sodium arsenitedecreases expression1
benzo(e)pyreneincreases methylation1
aflatoxin B2increases methylation1
licochalcone Bdecreases expression1
(+)-JQ1 compounddecreases expression1
Succimeraffects cotreatment, decreases expression1
Methapyrileneincreases methylation1
Nickelincreases expression1
Phthalic Acidsdecreases methylation1
Quercetindecreases expression1
Valproic Acidincreases methylation1
Cyclosporinedecreases methylation1
Cadmium Chloridedecreases expression, increases abundance1
Magnetite Nanoparticlesaffects cotreatment, decreases expression1

Clinical trials (associated diseases)

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