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Aliases for ZNF750 Gene

Aliases for ZNF750 Gene

  • Zinc Finger Protein 750 2 3 5
  • Protein ZNF750 3
  • ZFP750 3

External Ids for ZNF750 Gene

Previous GeneCards Identifiers for ZNF750 Gene

  • GC17M078381
  • GC17M080787
  • GC17M076189

Summaries for ZNF750 Gene

Entrez Gene Summary for ZNF750 Gene

  • This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]

GeneCards Summary for ZNF750 Gene

ZNF750 (Zinc Finger Protein 750) is a Protein Coding gene. Diseases associated with ZNF750 include seborrhea-like dermatitis with psoriasiform elements and dermatitis. Among its related pathways are Gene Expression. GO annotations related to this gene include transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding and core promoter sequence-specific DNA binding. An important paralog of this gene is PRR35.

UniProtKB/Swiss-Prot for ZNF750 Gene

  • Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF750 Gene

Genomics for ZNF750 Gene

Regulatory Elements for ZNF750 Gene

Promoters for ZNF750 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZNF750 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZNF750 Gene

Chromosome:
17
Start:
82,829,434 bp from pter
End:
82,840,578 bp from pter
Size:
11,145 bases
Orientation:
Minus strand

Genomic View for ZNF750 Gene

Genes around ZNF750 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF750 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF750 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF750 Gene

Proteins for ZNF750 Gene

  • Protein details for ZNF750 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q32MQ0-ZN750_HUMAN
    Recommended name:
    Zinc finger protein 750
    Protein Accession:
    Q32MQ0
    Secondary Accessions:
    • Q9H899

    Protein attributes for ZNF750 Gene

    Size:
    723 amino acids
    Molecular mass:
    77361 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZNF750 Gene

Proteomics data for ZNF750 Gene at MOPED

Post-translational modifications for ZNF750 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZNF750 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ZNF750 Gene

Domains & Families for ZNF750 Gene

Protein Domains for ZNF750 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF750 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q32MQ0

UniProtKB/Swiss-Prot:

ZN750_HUMAN :
  • Contains 1 C2H2-type zinc finger.
Similarity:
  • Contains 1 C2H2-type zinc finger.
genes like me logo Genes that share domains with ZNF750: view

No data available for Gene Families for ZNF750 Gene

Function for ZNF750 Gene

Molecular function for ZNF750 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression.
UniProtKB/Swiss-Prot Induction:
During epidermal differentiation: expression is activated by p63/TP63.

Gene Ontology (GO) - Molecular Function for ZNF750 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 22364861
genes like me logo Genes that share ontologies with ZNF750: view

Phenotypes for ZNF750 Gene

genes like me logo Genes that share phenotypes with ZNF750: view

Human Phenotype Ontology for ZNF750 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ZNF750 Gene

miRTarBase miRNAs that target ZNF750

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNF750 Gene

Localization for ZNF750 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF750 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZNF750 Gene COMPARTMENTS Subcellular localization image for ZNF750 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ZNF750 Gene

Pathways & Interactions for ZNF750 Gene

SuperPathways for ZNF750 Gene

Superpath Contained pathways
1 Gene Expression
genes like me logo Genes that share pathways with ZNF750: view

Pathways by source for ZNF750 Gene

2 Reactome pathways for ZNF750 Gene

Interacting Proteins for ZNF750 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000269394%0d%0a9606.ENSP00000311825%0d%0a
Selected Interacting proteins: Q32MQ0-ZN750_HUMAN ENSP00000269394 for ZNF750 Gene via UniProtKB STRING

Gene Ontology (GO) - Biological Process for ZNF750 Gene

None

No data available for SIGNOR curated interactions for ZNF750 Gene

Drugs & Compounds for ZNF750 Gene

No Compound Related Data Available

Transcripts for ZNF750 Gene

mRNA/cDNA for ZNF750 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ZNF750 Gene

Zinc finger protein 750:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF750 Gene

No ASD Table

Relevant External Links for ZNF750 Gene

GeneLoc Exon Structure for
ZNF750
ECgene alternative splicing isoforms for
ZNF750

Expression for ZNF750 Gene

mRNA expression in normal human tissues for ZNF750 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZNF750 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x13.4), Skin - Not Sun Exposed (Suprapubic) (x12.3), Esophagus - Mucosa (x11.3), and Vagina (x5.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZNF750 Gene



SOURCE GeneReport for Unigene cluster for ZNF750 Gene Hs.653124

mRNA Expression by UniProt/SwissProt for ZNF750 Gene

Q32MQ0-ZN750_HUMAN
Tissue specificity: Expressed in the skin, prostate, lung, placenta and thymus, and at low level in T-cells. Not expressed in peripheral blood leukocytes, pancreas and brain. Clearly expressed in primary keratinocytes but not in fibroblasts.
genes like me logo Genes that share expression patterns with ZNF750: view

Protein tissue co-expression partners for ZNF750 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues for ZNF750 Gene

Orthologs for ZNF750 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF750 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ZNF750 35
  • 74.89 (n)
  • 72.61 (a)
ZNF750 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZNF750 35
  • 75.74 (n)
  • 72.37 (a)
ZNF750 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zfp750 35
  • 76.17 (n)
  • 73.07 (a)
Zfp750 16
Zfp750 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ZNF750 35
  • 98.89 (n)
  • 98.06 (a)
ZNF750 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Znf750 35
  • 76.22 (n)
  • 72.34 (a)
oppossum
(Monodelphis domestica)
Mammalia ZNF750 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZNF750 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZNF750 35
  • 63.44 (n)
  • 57.89 (a)
ZNF750 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZNF750 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znf750 35
  • 56.21 (n)
  • 49.69 (a)
zebrafish
(Danio rerio)
Actinopterygii znf750 35
  • 44.52 (n)
  • 34.61 (a)
znf750 36
  • 27 (a)
OneToOne
Species with no ortholog for ZNF750:
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZNF750 Gene

ENSEMBL:
Gene Tree for ZNF750 (if available)
TreeFam:
Gene Tree for ZNF750 (if available)

Paralogs for ZNF750 Gene

Paralogs for ZNF750 Gene

genes like me logo Genes that share paralogs with ZNF750: view

Variants for ZNF750 Gene

Sequence variations from dbSNP and Humsavar for ZNF750 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_027062 -
VAR_051502 -
VAR_051503 -

Structural Variations from Database of Genomic Variants (DGV) for ZNF750 Gene

Variant ID Type Subtype PubMed ID
nsv428351 CNV Gain 18775914
esv21913 CNV Gain+Loss 19812545
nsv833575 CNV Loss 17160897
nsv909245 CNV Loss 21882294
nsv909246 CNV Loss 21882294
nsv833576 CNV Gain 17160897
dgv3364n71 CNV Loss 21882294

Variation tolerance for ZNF750 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.42; 77.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZNF750 Gene

HapMap Linkage Disequilibrium report
ZNF750
Human Gene Mutation Database (HGMD)
ZNF750

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF750 Gene

Disorders for ZNF750 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZNF750 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
seborrhea-like dermatitis with psoriasiform elements
  • sldp
dermatitis
  • eczema
seborrheic dermatitis
  • other seborrheic dermatitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZN750_HUMAN
  • Seborrhea-like dermatitis with psoriasiform elements (SLDP) [MIM:610227]: Characterized by a chronic fine diffuse scaly erythematous rash on the face, particularly on the chin, nasolabial folds and eyebrows, around earlobes and over the scalp. The rash exacerbate in the winter, with emotional stress and after strenuous physical activity. Hyperkeratosis of skin over the elbows, knees, palms, soles and metacarpophalangeal joints is evident. There is no arthralgia, arthritis or neurological disorders. {ECO:0000269 PubMed:16751772}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZNF750

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF750
genes like me logo Genes that share disorders with ZNF750: view

No data available for Genatlas for ZNF750 Gene

Publications for ZNF750 Gene

  1. Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein. (PMID: 16751772) Birnbaum R.Y. … Birk O.S. (Nat. Genet. 2006) 2 3 4 67
  2. ZNF750 interacts with KLF4 and RCOR1, KDM1A, and CTBP1/2 chromatin regulators to repress epidermal progenitor genes and induce differentiation genes. (PMID: 25228645) Boxer L.D. … Khavari P.A. (Genes Dev. 2014) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Common variants of ZNF750, RPTOR and TRAF3IP2 genes and psoriasis risk. (PMID: 24005976) DA9bniak T. … Maleszka R. (Arch. Dermatol. Res. 2013) 3
  5. ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiation. (PMID: 22364861) Sen G.L. … Khavari P.A. (Dev. Cell 2012) 3

Products for ZNF750 Gene

Sources for ZNF750 Gene

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