Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

Show/Hide all (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
rs1275959058	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs1447313633	TT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1559296368	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1575060677	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant

Show/Hide all (70)

miRTarBase ID	miRNA	Experiments
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
MIRT1516586	hsa-miR-4676-5p	CLIP-seq
MIRT1516587	hsa-miR-4726-3p	CLIP-seq
MIRT1516588	hsa-miR-520g	CLIP-seq
MIRT1516589	hsa-miR-520h	CLIP-seq
MIRT1516590	hsa-miR-548k	CLIP-seq
MIRT1516591	hsa-miR-554	CLIP-seq
MIRT1516592	hsa-miR-575	CLIP-seq
MIRT2155904	hsa-miR-122	CLIP-seq
MIRT2155905	hsa-miR-1252	CLIP-seq
MIRT2155906	hsa-miR-1253	CLIP-seq
MIRT2155907	hsa-miR-2278	CLIP-seq
MIRT2155908	hsa-miR-3622a-5p	CLIP-seq
MIRT1516583	hsa-miR-3651	CLIP-seq
MIRT2155909	hsa-miR-3653	CLIP-seq
MIRT2155910	hsa-miR-4311	CLIP-seq
MIRT2155911	hsa-miR-4423-3p	CLIP-seq
MIRT2155912	hsa-miR-4426	CLIP-seq
MIRT2155913	hsa-miR-4481	CLIP-seq
MIRT2155914	hsa-miR-452	CLIP-seq
MIRT2155915	hsa-miR-4534	CLIP-seq
MIRT2155916	hsa-miR-4647	CLIP-seq
MIRT2155917	hsa-miR-4662b	CLIP-seq
MIRT2155918	hsa-miR-4668-3p	CLIP-seq
MIRT2155919	hsa-miR-4676-3p	CLIP-seq
MIRT1516586	hsa-miR-4676-5p	CLIP-seq
MIRT2155920	hsa-miR-4745-5p	CLIP-seq
MIRT2155921	hsa-miR-555	CLIP-seq
MIRT1516592	hsa-miR-575	CLIP-seq
MIRT2155922	hsa-miR-642b	CLIP-seq
MIRT1516586	hsa-miR-4676-5p	CLIP-seq
MIRT1516592	hsa-miR-575	CLIP-seq
MIRT2155904	hsa-miR-122	CLIP-seq
MIRT2155905	hsa-miR-1252	CLIP-seq
MIRT2155906	hsa-miR-1253	CLIP-seq
MIRT2667914	hsa-miR-3134	CLIP-seq
MIRT2667915	hsa-miR-3185	CLIP-seq
MIRT1516583	hsa-miR-3651	CLIP-seq
MIRT2155909	hsa-miR-3653	CLIP-seq
MIRT2155910	hsa-miR-4311	CLIP-seq
MIRT2155912	hsa-miR-4426	CLIP-seq
MIRT2155913	hsa-miR-4481	CLIP-seq
MIRT2155915	hsa-miR-4534	CLIP-seq
MIRT2155916	hsa-miR-4647	CLIP-seq
MIRT2155917	hsa-miR-4662b	CLIP-seq
MIRT2155918	hsa-miR-4668-3p	CLIP-seq
MIRT1516586	hsa-miR-4676-5p	CLIP-seq
MIRT2155920	hsa-miR-4745-5p	CLIP-seq
MIRT2667916	hsa-miR-4765	CLIP-seq
MIRT2155921	hsa-miR-555	CLIP-seq
MIRT1516592	hsa-miR-575	CLIP-seq
MIRT2155922	hsa-miR-642b	CLIP-seq
MIRT2155904	hsa-miR-122	CLIP-seq
MIRT2155905	hsa-miR-1252	CLIP-seq
MIRT2155906	hsa-miR-1253	CLIP-seq
MIRT2155909	hsa-miR-3653	CLIP-seq
MIRT2155910	hsa-miR-4311	CLIP-seq
MIRT2155912	hsa-miR-4426	CLIP-seq
MIRT2155913	hsa-miR-4481	CLIP-seq
MIRT2155915	hsa-miR-4534	CLIP-seq
MIRT2155916	hsa-miR-4647	CLIP-seq
MIRT2155917	hsa-miR-4662b	CLIP-seq
MIRT2155918	hsa-miR-4668-3p	CLIP-seq
MIRT2155920	hsa-miR-4745-5p	CLIP-seq
MIRT2155921	hsa-miR-555	CLIP-seq
MIRT2155922	hsa-miR-642b	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence
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
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
604083	12927	ENSG00000115568

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
LLHTGEKPHKCELCDFTCRDVSYLSKHMLTHSNTKDYMCTECGYVTKWKHYLRVHMRKHA
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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic	rs1575060677	RCV000984807	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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, rs1575060677, rs369649419 View all (2 more)	RCV001839399 RCV002226943 RCV002226965 RCV002271333 RCV002283644 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Pathogenic	rs1575060677	RCV000984807	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZNF142-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	28099906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28099906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	31036918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31036918, 35616059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	31036918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	31036918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	35616059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31036918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	31036918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31036918		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31036918		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31036918, 35616059	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	35616059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	35616059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	31036918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31036918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28099906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31036918, 35616059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26159854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CLINVAR_DG	31036918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	31036918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ZNF142 (zinc finger protein 142)