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Aliases for PHF11 Gene

Aliases for PHF11 Gene

  • PHD Finger Protein 11 2 3 5
  • BRCA1 C-Terminus-Associated Protein 3 4
  • Renal Carcinoma Antigen NY-REN-34 3 4
  • IgE Responsiveness (Atopic) 2 3
  • BCAP 3 4
  • NY-REN-34 3
  • NYREN34 3
  • IGHER 3
  • IGEL 3
  • IGER 3
  • APY 3

External Ids for PHF11 Gene

Previous GeneCards Identifiers for PHF11 Gene

  • GC13P049006
  • GC13P047868
  • GC13P048968
  • GC13P050069
  • GC13P030863

Summaries for PHF11 Gene

Entrez Gene Summary for PHF11 Gene

  • This gene encodes a protein containing a PHD (plant homeodomain) type zinc finger. This gene has been identified in some studies as a candidate gene for asthma. Naturally-occurring readthrough transcription may occur from the upstream SETDB2 (SET domain bifurcated 2) gene to this locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for PHF11 Gene

PHF11 (PHD Finger Protein 11) is a Protein Coding gene. Diseases associated with PHF11 include Asthma and Asthma, Phf11-Related. An important paralog of this gene is PHF6.

UniProtKB/Swiss-Prot for PHF11 Gene

  • Positive regulator of Th1-type cytokine gene expression.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHF11 Gene

Genomics for PHF11 Gene

Regulatory Elements for PHF11 Gene

Enhancers for PHF11 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
GH13F049640 1.5 FANTOM5 Ensembl ENCODE 20.8 +147.0 146979 3.2 HDAC1 TAL1 ZNF133 JUN ZNF175 EBF1 GATA3 TRIM24 TCF7L2 SMARCE1 PHF11 RCBTB1 ARL11 EBPL KPNA3 SETDB2 CAB39L LOC105370205 GC13M049652
GH13F049442 1.1 ENCODE 23.8 -50.0 -49984 5.5 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 PHF11 TRIM13 SETDB2 CAB39L KCNRG EBPL SNRPGP14
GH13F049494 1.3 Ensembl ENCODE 14.2 +2.1 2084 6.6 HDGF PKNOX1 ARID4B GLI4 DMAP1 ZNF48 ZNF2 YY1 GLIS2 CBX5 SETDB2 PHF11 TRIM13 KCNRG EBPL ARL11 RCBTB1
GH13F049529 0.8 Ensembl ENCODE 19.9 +35.2 35164 1.7 ZNF121 CTBP1 GATA3 CREM SPI1 PHF11 RCBTB1
GH13F049606 1.1 Ensembl ENCODE 11.7 +111.9 111891 1.8 SOX13 CTCF SAP130 ARID4B MAX ZNF2 RAD21 YY1 POLR2A ZNF366 RCBTB1 ARL11 PHF11 EBPL GC13P049617
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHF11 on UCSC Golden Path with GeneCards custom track

Promoters for PHF11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000516095 90 2201 HDGF ARID4B GLI4 DMAP1 ZNF48 ZNF2 YY1 GLIS2 CBX5 ZNF207

Genomic Location for PHF11 Gene

Chromosome:
13
Start:
49,495,610 bp from pter
End:
49,528,987 bp from pter
Size:
33,378 bases
Orientation:
Plus strand

Genomic View for PHF11 Gene

Genes around PHF11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHF11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHF11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHF11 Gene

Proteins for PHF11 Gene

  • Protein details for PHF11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIL8-PHF11_HUMAN
    Recommended name:
    PHD finger protein 11
    Protein Accession:
    Q9UIL8
    Secondary Accessions:
    • Q5W0A4
    • Q5W0A6
    • Q9Y5A2

    Protein attributes for PHF11 Gene

    Size:
    331 amino acids
    Molecular mass:
    37582 Da
    Quaternary structure:
    • Interacts with BRCA1 and RELA.
    SequenceCaution:
    • Sequence=AAD42871.1; Type=Frameshift; Positions=226, 253; Evidence={ECO:0000305}; Sequence=AAH17212.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PHF11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHF11 Gene

Post-translational modifications for PHF11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHF11 Gene

Domains & Families for PHF11 Gene

Gene Families for PHF11 Gene

Protein Domains for PHF11 Gene

Suggested Antigen Peptide Sequences for PHF11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UIL8

UniProtKB/Swiss-Prot:

PHF11_HUMAN :
  • Contains 1 C2HC pre-PHD-type zinc finger.
Similarity:
  • Contains 1 C2HC pre-PHD-type zinc finger.
  • Contains 1 PHD-type zinc finger.
genes like me logo Genes that share domains with PHF11: view

Function for PHF11 Gene

Molecular function for PHF11 Gene

UniProtKB/Swiss-Prot Function:
Positive regulator of Th1-type cytokine gene expression.

Gene Ontology (GO) - Molecular Function for PHF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PHF11: view
genes like me logo Genes that share phenotypes with PHF11: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PHF11 Gene

Localization for PHF11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHF11 Gene

Subcellular locations from

COMPARTMENTS
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 PHF11 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PHF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with PHF11: view

Pathways & Interactions for PHF11 Gene

SuperPathways for PHF11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHF11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with PHF11: view

No data available for Pathways by source and SIGNOR curated interactions for PHF11 Gene

Transcripts for PHF11 Gene

Unigene Clusters for PHF11 Gene

PHD finger protein 11:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHF11 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - - - - - -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5:

Relevant External Links for PHF11 Gene

GeneLoc Exon Structure for
PHF11
ECgene alternative splicing isoforms for
PHF11

Expression for PHF11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHF11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PHF11 Gene

This gene is overexpressed in Pancreas (54.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHF11 Gene



Protein tissue co-expression partners for PHF11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHF11 Gene:

PHF11

SOURCE GeneReport for Unigene cluster for PHF11 Gene:

Hs.369039

mRNA Expression by UniProt/SwissProt for PHF11 Gene:

Q9UIL8-PHF11_HUMAN
Tissue specificity: Highly expressed in T and B-cells, as well as natural killer and mature dendritic cells. Expressed at higher levels in Th1 as compared to Th2 cells. Expressed at low levels in all normal tissues tested, including lung, testis, small intestine, breast, liver and placenta.
genes like me logo Genes that share expression patterns with PHF11: view

Primer Products

No data available for mRNA differential expression in normal tissues for PHF11 Gene

Orthologs for PHF11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PHF11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHF11 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia PHF11 34 35
  • 82.18 (n)
-- 35
  • 54 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PHF11 34 35
  • 81.03 (n)
mouse
(Mus musculus)
Mammalia Phf11b 34 35
  • 74.06 (n)
Gm6904 35
  • 58 (a)
OneToMany
Phf11d 16 35
  • 50 (a)
Phf11a 35
  • 49 (a)
OneToMany
Phf11c 35
  • 47 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Phf11 34
  • 66.37 (n)
oppossum
(Monodelphis domestica)
Mammalia PHF11 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHF11 34 35
  • 60.29 (n)
lizard
(Anolis carolinensis)
Reptilia PHF11 35
  • 39 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii phf11 35
  • 15 (a)
OneToOne
Species where no ortholog for PHF11 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)
  • 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)
  • 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)

Evolution for PHF11 Gene

ENSEMBL:
Gene Tree for PHF11 (if available)
TreeFam:
Gene Tree for PHF11 (if available)

Paralogs for PHF11 Gene

Paralogs for PHF11 Gene

(2) SIMAP similar genes for PHF11 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PHF11: view

Variants for PHF11 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PHF11 Gene

PHF11_HUMAN-Q9UIL8
Variation in PHF11 seems to be associated with propensity to childhood atopic dermatitis and asthma.

Sequence variations from dbSNP and Humsavar for PHF11 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1046295 -- 49,528,674(+) TTACC(A/G)TTTCC nc-transcript-variant, utr-variant-3-prime
rs10546233 -- 49,526,492(+) CATAG(-/TT)TTGAG intron-variant
rs10546234 -- 49,526,505(+) AATAT(-/TTAT)CACGA intron-variant
rs10569387 -- 49,518,336(+) TATAT(-/AT)ATATT intron-variant
rs10573458 -- 49,526,169(+) GTCTC(-/AAAA)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHF11 Gene

Variant ID Type Subtype PubMed ID
dgv3139n54 CNV loss 21841781
esv2319655 CNV deletion 18987734
esv2747396 CNV deletion 23290073
esv3550445 CNV deletion 23714750
nsv1148044 CNV deletion 26484159
nsv519181 CNV loss 19592680
nsv523648 CNV gain 19592680
nsv561613 CNV loss 21841781
nsv826637 CNV loss 20364138

Variation tolerance for PHF11 Gene

Residual Variation Intolerance Score: 73.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 33.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHF11 Gene

Human Gene Mutation Database (HGMD)
PHF11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHF11

Disorders for PHF11 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PHF11 Gene - From: OMIM, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
asthma
  • asthma, protection against
asthma, phf11-related
  • asthma
atopic dermatitis
  • eczema
dermatitis
  • eczema
- elite association - COSMIC cancer census association via MalaCards
Search PHF11 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PHF11

Genetic Association Database (GAD)
PHF11
Human Genome Epidemiology (HuGE) Navigator
PHF11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHF11
genes like me logo Genes that share disorders with PHF11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHF11 Gene

Publications for PHF11 Gene

  1. Polymorphisms within the PHF11 gene at chromosome 13q14 are associated with childhood atopic dermatitis. (PMID: 15674390) Jang N. … Jones G. (Genes Immun. 2005) 3 4 22 46 64
  2. Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. (PMID: 12754510) Zhang Y. … Cookson W.O.C.M. (Nat. Genet. 2003) 3 4 22 46 64
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 2 3 4 64
  4. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 2 3 4 64
  5. Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. (PMID: 21348951) Parsa A. … Liggett S.B. (Clin Transl Sci 2011) 3 46 64

Products for PHF11 Gene

Sources for PHF11 Gene

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