Gene Gene information from NCBI Gene database.
Entrez ID 7701
Gene name Zinc finger protein 142
Gene symbol ZNF142
Synonyms (NCBI Gene)
HA4654NEDISHMpHZ-49
Chromosome 2
Chromosome location 2q35
Summary The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this g
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs367658234 G>A,C,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant
rs546151500 G>A,T Likely-pathogenic Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained
rs748323893 C>T Pathogenic-likely-pathogenic Genic downstream transcript variant, coding sequence variant, synonymous variant
rs756225038 G>A Likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs776031837 G>- Pathogenic-likely-pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
70
miRTarBase ID miRNA Experiments Reference
MIRT1516581 hsa-miR-1915 CLIP-seq
MIRT1516582 hsa-miR-3620 CLIP-seq
MIRT1516583 hsa-miR-3651 CLIP-seq
MIRT1516584 hsa-miR-3973 CLIP-seq
MIRT1516585 hsa-miR-4476 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604083 12927 ENSG00000115568
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P52746
Protein name Zinc finger protein 142
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 191 212 Zinc finger, C2H2 type Domain
PF13909 zf-H2C2_5 401 425 Domain
PF00096 zf-C2H2 1536 1559 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 1565 1587 Zinc finger, C2H2 type Domain
Sequence
MTDPLLDSQPASSTGEMDGLCPELLLIPPPLSNRGILGPVQSPCPSRDPAPIPTEPGCLL
VEATATEEGPGNMEIIVETVAGTLTPGAPGETPAPKLPPGEREPSQEAGTPLPGQETAEE
ENVEKEEKSDTQKDSQKAVDKGQGAQRLEGDVVSGTESLFKTHMCPECKRCFKKRTHLVE
HLHLHFPDPSLQCPNCQKFFTSKSKLKTHLLRELGEKAHHCPLCHYSAVERNALNRHMAS
MHEDISNFYSDTYACPVCREEFRLSQALKEHLKSHTAAAAAEPLPLRCFQEGCSYAAPDR
KAFIKHLKETHGVRAVECRHHSCPMLFATAEAMEAHHKSHYAFHCPHCDFACSNKHLFRK
HKKQGHPGSEELRCTFCPFATFNPVAYQDHVGKMHAHEKIHQCPECNFATAHKRVLIRHM
LLHTG
EKPHKCELCDFTCRDVSYLSKHMLTHSNTKDYMCTECGYVTKWKHYLRVHMRKHA
GDLRYQCNQCSYRCHRADQLSSHKLRHQGKSLMCEVCAFACKRKYELQKHMASQHHPGTP
APLYPCHYCSYQSRHKQAVLSHENCKHTRLREFHCALCDYRTFSNTTLLFHKRKAHGYVP
GDQAWQLRYASQEPEGAMQGPTPPPDSEPSNQLSARPEGPGHEPGTVVDPSLDQALPEMS
EEVNTGRQEGSEAPHGGDLGGSPSPAEVEEGSCTLHLEALGVELESVTEPPLEEVTETAP
MEFRPLGLEGPDGLEGPELSSFEGIGTSDLSAEENPLLEKPVSEPSTNPPSLEEAPNNWV
GTFKTTPPAETAPLPPLPESESLLKALRRQDKEQAEALVLEGRVQMVVIQGEGRAFRCPH
CPFITRREKALNLHSRTGCQGRREPLLCPECGASFKQQRGLSTHLLKKCPVLLRKNKGLP
RPDSPIPLQPVLPGTQASEDTESGKPPPASQEAELLLPKDAPLELPREPEETEEPLATVS
GSPVPPAGNSLPTEAPKKHCFDPVPPAGNSSPTEAPKKHHLDPVPPAGNSSPTEALKKHR
FEQGKFHCNSCPFLCSRLSSITSHVAEGCRGGRGGGGKRGTPQTQPDVSPLSNGDSAPPK
NGSTESSSGDGDTVLVQKQKGARFSCPTCPFSCQQERALRTHQIRGCPLEESGELHCSLC
PFTAPAATALRLHQKRRHPTAAPARGPRPHLQCGDCGFTCKQSRCMQQHRRLKHEGVKPH
QCPFCDFSTTRRYRLEAHQSRHTGIGRIPCSSCPQTFGTNSKLRLHRLRVHDKTPTHFCP
LCDYSGYLRHDITRHVNSCHQGTPAFACSQCEAQFSSETALKQHALRRHPEPAQPAPGSP
AETTEGPLHCSRCGLLCPSPASLRGHTRKQHPRLECGACQEAFPSRLALDEHRRQQHFSH
RCQLCDFAARERVGLVKHYLEQHEETSAAVAASDGDGDAGQPPLHCPFCDFTCRHQLVLD
HHVKGHGGTRLYKCTDCAYSTKNRQKITWHSRIHTGEKPYHCHLCPYACADPSRLKYHMR
IHKEERKYLCPECGYKCKWVNQLKYHMTKHTGLKPYQCPECEYCTNRADALRVHQETRHR
EARAFMCEQCGKAFKTRFLLRTHLRKHSEAKPYVCNVCHRAFRWAAGLRHHALTHTDRHP
FFCRLCNYKAKQKFQVVKHVRRHHPDQADPNQGVGKDPTTPTVHLHDVQLEDPSPPAPAA
PHTGPEG
Sequence length 1687
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
90
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Pathogenic rs1575060677 RCV000984807
Neurodevelopmental disorder with impaired speech and hyperkinetic movements Likely pathogenic; Pathogenic rs750239776, rs34864794, rs750681891, rs2106250143, rs751589999, rs1697371244, rs776415431, rs989952079, rs2469638641, rs1460011826, rs1559296368, rs1447313633, rs367658234, rs546151500, rs1275959058
View all (2 more)
RCV001839399
RCV002226943
RCV002226965
RCV002271333
RCV002283644
RCV002283968
RCV002471845
RCV003334408
RCV003236622
RCV003324658
RCV003333472
RCV000770918
RCV000770919
RCV000770920
RCV000770921
RCV000770923
RCV004555595
RCV002051930
Seizure Pathogenic rs1575060677 RCV000984807
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs776031837, rs748323893 -
Familial cancer of breast Likely benign rs188997501 RCV005929628
Gastric cancer Likely benign rs188997501 RCV005929629
ZNF142-related disorder Likely benign; Benign; Uncertain significance rs61733647, rs61733644, rs1803383, rs2230115, rs3770214, rs61733645, rs3821033, rs4674322, rs3731872, rs3770213, rs3770212, rs72962069, rs186337382, rs139412557, rs200075933
View all (14 more)
RCV003921192
RCV003956301
RCV003921315
RCV003984049
RCV003975905
RCV003921331
RCV003968479
RCV003976013
RCV003910970
RCV003976064
RCV003913329
RCV003926327
RCV003916387
RCV004758226
RCV004758227
RCV003903652
RCV003928970
RCV003936741
RCV003906692
RCV003908927
RCV003974704
RCV003911834
RCV003913825
RCV003924496
RCV003934320
RCV003956779
RCV003979310
RCV003976592
RCV004731590
RCV004758299
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Squamous Cell Associate 28099906
Developmental Disabilities Associate 31036918, 35616059
Disease Associate 31036918
Dystonia Associate 31036918
Facial Dysmorphism with Multiple Malformations Associate 35616059
Intellectual Disability Associate 31036918, 35616059
Language Development Disorders Associate 35616059
Movement Disorders Associate 35616059
Muscle Hypotonia Associate 35616059
Neurocognitive Disorders Associate 31036918