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Aliases for ZNF81 Gene

Aliases for ZNF81 Gene

  • Zinc Finger Protein 81 2 3 5
  • HFZ20 3 4
  • Mental Retardation, X-Linked 45 2
  • Zinc Finger Protein 81 (HFZ20) 2
  • DJ54B20.6 3
  • MRX45 3

External Ids for ZNF81 Gene

Previous HGNC Symbols for ZNF81 Gene

  • MRX45

Previous GeneCards Identifiers for ZNF81 Gene

  • GC0XU990240
  • GC0XM046035
  • GC0XM046352
  • GC0XP046779
  • GC0XP047452
  • GC0XP047581
  • GC0XP047696
  • GC0XP045408

Summaries for ZNF81 Gene

Entrez Gene Summary for ZNF81 Gene

  • 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 an X-linked form of intellectual disability (MRX45). Microduplication of a region of chromosome X including this gene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017]

GeneCards Summary for ZNF81 Gene

ZNF81 (Zinc Finger Protein 81) is a Protein Coding gene. Diseases associated with ZNF81 include X-Linked Non-Specific Intellectual Disability and Aland Island Eye Disease. GO annotations related to this gene include nucleic acid binding and transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ZNF41.

UniProtKB/Swiss-Prot for ZNF81 Gene

  • May be involved in transcriptional regulation.

Additional gene information for ZNF81 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF81 Gene

Genomics for ZNF81 Gene

Regulatory Elements for ZNF81 Gene

Enhancers for ZNF81 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH047216 1.4 ENCODE dbSUPER 47 -618.4 -618353 5 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF207 ZNF143 ZNF548 LOC100113397 ZNF81 INE1 LINC01560 ZNF182 ZNF674-AS1 UBA1 RBM10 USP11 ZNF674
GH0XH047128 1.2 Ensembl ENCODE 26.4 -707.3 -707271 2 PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 BRCA1 ZNF2 YY1 TCF12 INE1 LOC100113397 ZNF81 ZNF182 UBA1 NUS1P1 ARAF RBM10 GC0XP047146 LOC105373193
GH0XH047231 1.6 Ensembl ENCODE dbSUPER 15 -602.9 -602854 4.7 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF143 SP3 ZHX2 REST INE1 ZNF81 SNORA11C LOC100419232 UXT WASF4P UBA1 USP11 GC0XP047244 PIR42211
GH0XH048834 1 ENCODE 23.9 +998.3 998310 2.3 ZNF133 ARID4B GLI4 ZNF2 KLF7 SP3 SP5 YY2 MIER2 REST ZNF81 FTSJ1 ENSG00000270012 ENSG00000204620 ZNF182 CCDC120 PCSK1N PRAF2 PQBP1 SYP
GH0XH048485 1.4 FANTOM5 Ensembl ENCODE 16 +651.5 651522 6 HDAC1 PKNOX1 KLF1 ETV1 ZNF121 FOXK2 POLR2A RCOR1 ZSCAN29 FOS FTSJ1 ENSG00000204620 PORCN ZNF81 RBM3 EBP ENSG00000270012 ENSG00000228343 SLC38A5 ZNF630
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZNF81 on UCSC Golden Path with GeneCards custom track

Promoters for ZNF81 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for ZNF81 Gene

Genomic Locations for ZNF81 Gene
165,691 bases
Plus strand

Genomic View for ZNF81 Gene

Genes around ZNF81 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF81 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF81 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF81 Gene

Proteins for ZNF81 Gene

  • Protein details for ZNF81 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Zinc finger protein 81
    Protein Accession:
    Secondary Accessions:
    • Q6RX22
    • Q96QH6

    Protein attributes for ZNF81 Gene

    661 amino acids
    Molecular mass:
    75960 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZNF81 Gene

Post-translational modifications for ZNF81 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF81 Gene

Domains & Families for ZNF81 Gene

Gene Families for ZNF81 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZNF81 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF81: view

Function for ZNF81 Gene

Molecular function for ZNF81 Gene

GENATLAS Biochemistry:
zinc finger protein 81 (H2F10) (C2H2 type,Kruppel-like)
UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Gene Ontology (GO) - Molecular Function for ZNF81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF81: view
genes like me logo Genes that share phenotypes with ZNF81: view

Human Phenotype Ontology for ZNF81 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF81 Gene

Localization for ZNF81 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF81 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF81 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for ZNF81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZNF81: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZNF81 Gene

Pathways & Interactions for ZNF81 Gene

SuperPathways for ZNF81 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZNF81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IBA --
genes like me logo Genes that share ontologies with ZNF81: view

No data available for Pathways by source and SIGNOR curated interactions for ZNF81 Gene

Drugs & Compounds for ZNF81 Gene

No Compound Related Data Available

Transcripts for ZNF81 Gene

Unigene Clusters for ZNF81 Gene

Zinc finger protein 81:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF81 Gene

No ASD Table

Relevant External Links for ZNF81 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ZNF81 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZNF81 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZNF81 Gene:


SOURCE GeneReport for Unigene cluster for ZNF81 Gene:


Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF81 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
  • lung
  • rib
  • rib cage
  • pelvis
  • testicle
  • urinary bladder
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ZNF81: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for ZNF81 Gene

Orthologs for ZNF81 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ZNF81 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ZNF81 33 34
  • 99.85 (n)
(Canis familiaris)
Mammalia ZNF81 33 34
  • 90.12 (n)
(Bos Taurus)
Mammalia ZNF81 33 34
  • 88.5 (n)
(Rattus norvegicus)
Mammalia LOC100363372 33
  • 81.74 (n)
Species where no ortholog for ZNF81 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ZNF81 Gene

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

Paralogs for ZNF81 Gene

Paralogs for ZNF81 Gene

(528) SIMAP similar genes for ZNF81 Gene using alignment to 4 proteins: Pseudogenes for ZNF81 Gene

genes like me logo Genes that share paralogs with ZNF81: view

Variants for ZNF81 Gene

Sequence variations from dbSNP and Humsavar for ZNF81 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs116316712 Likely benign 47,846,122(+) CTCTG(C/T)GGAGT utr-variant-5-prime
rs141557587 Likely benign 47,919,256(+) TCTTT(A/G)TTTCT utr-variant-3-prime
rs148356633 Likely benign 47,919,181(+) TGACC(A/G)GAAGA utr-variant-3-prime
rs183606613 Likely benign 47,917,088(+) TAGGG(A/T)GTTTG utr-variant-3-prime
rs183846665 Likely benign 47,846,275(+) GCCAG(C/T)TAACG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ZNF81 Gene

Variant ID Type Subtype PubMed ID
esv3360804 CNV insertion 20981092
esv3307234 CNV mobile element insertion 20981092
esv2758866 CNV gain+loss 17122850
esv2545209 CNV deletion 19546169

Variation tolerance for ZNF81 Gene

Residual Variation Intolerance Score: 86.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF81 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF81 Gene

Disorders for ZNF81 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ZNF81 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
x-linked non-specific intellectual disability
  • x-linked non-syndromic intellectual disability
aland island eye disease
  • forsius-eriksson syndrome
congenital stationary night blindness
  • congenital essential nyctalopia
intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search ZNF81 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration involving ZNF81 is found in a severe mental retardation patient. Translocation t(X;9)(p11.23;q34.3). {ECO:0000269 PubMed:15121780}.

Relevant External Links for ZNF81

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ZNF81: view

No data available for Genatlas for ZNF81 Gene

Publications for ZNF81 Gene

  1. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. (PMID: 15121780) Kleefstra T … van Bokhoven H (Journal of medical genetics 2004) 2 3 4 60
  2. A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression. (PMID: 8507979) Marino M … Grimaldi G (Mammalian genome : official journal of the International Mammalian Genome Society 1993) 2 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 60
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 60

Products for ZNF81 Gene

Sources for ZNF81 Gene

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