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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ZNF81 Gene

protein-coding GIFtS: 47
GCID: GC0XP047696

zinc finger protein 81

(Previous names: zinc finger protein 81 (HFZ20), mental retardation, X-linked...)
(Previous symbol: MRX45)

Explore 11 diseases affiliated with
ZNF81 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Zinc Finger Protein 81¹ ²
HFZ20¹ ² ³
MRX45¹ ² ⁵
Mental Retardation, X-Linked 45¹
Zinc Finger Protein 81 (HFZ20)¹
DJ54B20.6¹

External Ids:	HGNC: 13156¹	Entrez Gene: 347344²	Ensembl: ENSG00000197779⁷	OMIM: 314998⁵	UniProtKB: P51508³

Export aliases for ZNF81 gene to outside databases

Previous GC identifers: GC0XU990240 GC0XM046035 GC0XM046352 GC0XP046779 GC0XP047452 GC0XP047581 GC0XP045408

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ZNF81:

This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB

domain and several C2H2-type zinc finger motifs. Mutations in this gene cause mental retardation X-linked type 45

(MRX45). (provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: ZNF81_HUMAN, P51508

Function: May be involved in transcriptional regulation

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_079573.4

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ZNF81 gene promoter:
SRF GATA-3 Pbx1a FOXO4 SRF (504 AA) STAT3 E4BP4 GATA-2 GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ZNF81 promoter sequence

Search SABiosciences Chromatin IP Primers for ZNF81

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNF81

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.23

ZNF81 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNF81 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP047696: view genomic region (about GC identifiers)

Start:	47,696,301 bp from pter	End:	47,861,960 bp from pter
Size:	165,660 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ZNF81_HUMAN, P51508 (See protein sequence)

Recommended Name: Zinc finger protein 81

Size: 661 amino acids; 75960 Da

Subcellular location: Nucleus (Probable)

Secondary accessions: Q6RX22 Q96QH6

Explore the universe of human proteins at neXtProt for ZNF81: NX_P51508

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P51508

ZNF81 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_009068.2

ENSEMBL proteins:

ENSP00000366153 ENSP00000334641 ENSP00000366149 ENSP00000341151

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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	NAS	--

ZNF81 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ZNF81 for domains About GeneDecksing

4 InterPro domains/families:

IPR015880 Znf_C2H2-like

IPR001909 Krueppel-associated_box

IPR013087 Znf_C2H2/integrase_DNA-bd

IPR007087 Znf_C2H2

Graphical View of Domain Structure for InterPro Entry P51508

ProtoNet protein and cluster: P51508

2 Blocks protein families:

IPB001909 KRAB box

IPB004301 Nucleoplasmin

UniProtKB/Swiss-Prot: ZNF81_HUMAN, P51508

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

Similarity: Contains 12 C2H2-type zinc fingers

Similarity: Contains 1 KRAB domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ZNF81_HUMAN, P51508

Function: May be involved in transcriptional regulation

Genatlas biochemistry entry for ZNF81:

zinc finger protein 81 (H2F10) (C2H2 type,Kruppel-like)

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Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	NAS	--
GO:0008270	zinc ion binding	IEA	--

ZNF81 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ZNF81

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	NAS	--

ZNF81 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ZNF81
Search CenterWatch for drugs/clinical trials and news about ZNF81

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for ZNF81 gene:

NM_007137.3

Unigene Cluster for ZNF81:

Zinc finger protein 81

Hs.114246 [show with all ESTs]

Unigene Representative Sequence: NM_007137

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000376954(uc010nhy.2) ENST00000334937 ENST00000376950 ENST00000483520

ENST00000338637(uc022bvq.1)

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Additional cDNA sequence:

AK126339.1 AK126949.1 AY487248.1 BC039609.1 BC111389.1

6 DOTS entries:

DT.307434 DT.409524 DT.102828185 DT.404589 DT.100001323 DT.75188065

24/35 AceView cDNA sequences (see all 35):

AA761445 AA933086 AK126949 AA707776 AY487248 BC039609 BX105648 CA442920

AI791522 NM_007137 AA826195 AI733032 AK126339 AI028309 AW015406 BF508117

BX095158 BI869932 AI915418 AI434443 CA389063 AI792949 AA173665 AW237099

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ZNF81 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See ZNF81 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ZNF81

SOURCE GeneReport for Unigene cluster: Hs.114246

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ZNF81 gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	--	--	30(a)	1 → many	AAWZ02037823(6480-8036)
zebrafish (Danio rerio)	Actinopterygii	si:ch211-208f21.1⁶ si:ch73-289h5.2⁶ (see all 44)	si:ch73-289h5.2 (see all 44)	35(a) 35(a) (see all 44)	many ↔ many many ↔ many (see all 44)	4(53757232-53770631) 4(27729264-27734628)
fruit fly (Drosophila melanogaster)	Insecta	CG11247⁶	--	18(a)	1 → many	3L(21717426-21721906)

ENSEMBL Gene Tree for ZNF81 (if available)
TreeFam Gene Tree for ZNF81 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ZNF81 gene

ZNF175² ZNF674² LOC100287515² ZNF614² ZNF432² ZNF613² ZNF26² ZNF350²

ZNF649² ZNF605² ZNF577² ZNF84² ZNF630² ZFP37² ZNF484² ENSG00000229631²

ZNF182² ZNF41² ZNF268² LOC100996464² ZNF615² ZNF300²

18/515 SIMAP similar genes for ZNF81 using alignment to 4 protein entries: ZNF81_HUMAN (see all proteins) (see all similar genes):

ZNF705F ZNF705A ZNF705E ZNF420 POM121C KRBOX4

ZNF705G ZFP57 ZNF596 ZNF571 ZNF529 ZNF331

ZNF3 ZNF84 ZNF720 ZNF78L1 kr-znf3 ZNF850

ZNF81 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for ZNF81
PGOHUM00000234302 PGOHUM00000260297

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1207490^1,2	C,F,A,H,	--	45406160(+)	`GACTAT/CAAAAA`	1	--	nc-transcript-varianttfbs³		14		NS EA NA	1680
rs11798406^1,2	H	--	45406697(+)	`catggT/Ggcccc`	1	--	nc-transcript-variant		4		NS EA	418
rs1207492^1,2	C,F,A,H,	--	45408284(+)	`GTTTGG/AAGCAT`	1	--	us2k¹		11		NS EA NA	1296
rs1207493^1,2	C,F,A,H,	--	45408402(+)	`CTTAGT/CTTTCT`	1	--	us2k¹		7		NS EA NA WA	424
rs1207494^1,2	C,F,A,H,	--	45408472(+)	`AGTCCG/ATGGTG`	1	--	us2k¹		5		NS EA NA	422
rs146068237^1,2		--	47694349(+)	`CCCAAC/TCTGTG`	1	--	us2k¹		0	--	--	--	--
rs192501964^1,2		--	47694555(+)	`CCTACC/TTTAAG`	1	--	us2k¹		0	--	--	--	--
rs149802430^1,2	C,	--	47694904(+)	`ACTCCA/GCTATT`	2	--	ds500¹ us2k¹		0	--	--	--	--
rs184680210^1,2		--	47695110(+)	`CCCCAG/TCAAGT`	2	--	ds500¹ us2k¹		0	--	--	--	--
rs187537896^1,2		--	47695511(+)	`TTGCAC/TTGGAC`	2	--	us2k¹ nc-transcript-variant		0	--	--	--	--

HapMap Linkage Disequilibrium report for ZNF81 (47696301 - 47861960 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ZNF81
2 CNVs: 4149 103248
Human Gene Mutation Database (HGMD): ZNF81

Locus Specific Mutation Databases (LSDB): ZNF81

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ZNF81 for disorders           About GeneDecksing

OMIM gene information: 314998
OMIM disorders: 300498
UniProtKB/Swiss-Prot: ZNF81_HUMAN, P51508

Defects in ZNF81 are the cause of mental retardation X-linked type 45 (MRX45) [MIM:300498]. Mental retardation

is characterized by significantly sub-average general intellectual functioning associated with impairments in

adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not

manifest other clinical signs

Note=A chromosomal aberration involving ZNF81 is found in a severe mental retardation patient. Translocation

t(X;9)(p11.23;q34.3)

11 diseases for ZNF81: About MalaCards

mental retardation, x-linked aland island eye disease congenital stationary night blindness williams-beuren syndrome

wiskott-aldrich syndrome night blindness intellectual disability synovial sarcoma

eye disease blindness sarcoma

2 diseases from the University of Copenhagen DISEASES database for ZNF81:

Aland Island eye disease Intellectual disability

Export disorders for ZNF81 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ZNF81 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with ZNF81)

Utopia: connect your pdf to the dynamic
world of online information

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. (PubMed id 15121780)^{1, 2, 3} Kleefstra T.... van Bokhoven H. (2004)
A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression. (PubMed id 8507979)^{1, 2, 3} Marino M.... Grimaldi G. (1993)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
The DNA sequence of the human X chromosome. (PubMed id 15772651)² Ross M.T.... Bentley D.R. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. (PubMed id 10398246)¹ Hamel B.C....Kremer H. (1999)
Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval. (PubMed id 8938429)¹ Schindelhauer D.... Meindl A. (1996)
A high-resolution map of genes, microsatellite marker s, and new dinucleotide repeats from UBE1 to the GATA locus in the region Xp11. 23. (PubMed id 8530079)¹ Kwan S.P....Rosen F.S. (1995)
A 1.8-Mb YAC contig in Xp11.23: identification of CpG islands and physical mapping of CA repeats in a region of high gene density. (PubMed id 8088827)¹ Coleman M.P....Davies K.E. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 347344	HGNC: 13156	AceView: ZNF81	Ensembl:ENSG00000197779	euGenes: HUgn347344
ECgene: ZNF81	H-InvDB: ZNF81

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ZNF81	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ZNF81 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ZNF81 gene:
Search GeneIP for patents involving ZNF81

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ZNF81
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes ZNF81 gene at Home site.

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ZNF81 Gene

zinc finger protein 81

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ZNF81 Gene

zinc finger protein 81

Aliasesfor ZNF81 gene

Summariesfor ZNF81 gene

Genomic Viewsfor ZNF81 gene

Proteinsfor ZNF81 gene

Protein Domains /Familiesfor ZNF81 gene

Functionfor ZNF81 gene

Pathways & Interactionsfor ZNF81 gene

Drugs & Compoundsfor ZNF81 gene

Transcriptsfor ZNF81 gene

Expression for ZNF81 gene

Orthologsfor ZNF81 gene

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Genomic Variantsfor ZNF81 gene

Disorders / Diseasesfor ZNF81 gene

Publicationsfor ZNF81 gene

External Searches for ZNF81 gene

Genome Databases showing ZNF81 gene

Other Databases showing ZNF81 gene

Specialized Databases showing ZNF81 gene

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Aliases
for ZNF81 gene

Summaries
for ZNF81 gene

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for ZNF81 gene

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for ZNF81 gene

Protein Domains /
Families
for ZNF81 gene

Function
for ZNF81 gene

Pathways & Interactions
for ZNF81 gene

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for ZNF81 gene

Transcripts
for ZNF81 gene

Expression
for ZNF81 gene

Orthologs
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for ZNF81 gene

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for ZNF81 gene

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for ZNF81 gene

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for ZNF81 gene

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for ZNF81 gene

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for ZNF81 gene