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Aliases for PHF7 Gene

Aliases for PHF7 Gene

  • PHD Finger Protein 7 2 3 5
  • Testis Development Protein NYD-SP6 3 4
  • Testicular Secretory Protein Li 34 3
  • HSPC045 3
  • HSPC226 3
  • NYD-SP6 3

External Ids for PHF7 Gene

Previous GeneCards Identifiers for PHF7 Gene

  • GC03P051537
  • GC03P051697
  • GC03P052300
  • GC03P052402
  • GC03P052419

Summaries for PHF7 Gene

Entrez Gene Summary for PHF7 Gene

  • Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

GeneCards Summary for PHF7 Gene

PHF7 (PHD Finger Protein 7) is a Protein Coding gene. Diseases associated with PHF7 include Polycystic Kidney Disease, Adult Type I. An important paralog of this gene is G2E3.

UniProtKB/Swiss-Prot for PHF7 Gene

  • May play a role in spermatogenesis.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHF7 Gene

Genomics for PHF7 Gene

Regulatory Elements for PHF7 Gene

Enhancers for PHF7 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
GH03G052243 1.8 FANTOM5 ENCODE dbSUPER 14.4 -164.7 -164673 4.9 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 PBRM1 PPM1M LOC101929054 GLYCTK IQCF2 IQCF5 PHF7 IQCF6 IQCF1 WDR82
GH03G052074 0.6 FANTOM5 31.6 -336.0 -335968 0.2 CTCF NCOR1 ZMYM3 REST EP300 NR2F2 IQCF2 PHF7 IQCF5 IQCF1 IQCF6 LINC00696 POC1A
GH03G052385 0.7 ENCODE 12.7 -25.2 -25189 0.2 CTCF CBX3 RB1 TEAD4 RAD21 POLR2A ZNF143 SMC3 CREM ZNF263 BAP1 PHF7 GLYCTK-AS1 LOC101929054 TWF2 ENSG00000173366 TLR9 MIR135A1 WDR82 GLYCTK
GH03G052408 1.1 ENCODE 0.7 0.0 -19 3.9 HDGF PKNOX1 MLX CREB3L1 SIN3A ARID4B DMAP1 ZNF2 YY1 ZNF766 SEMA3G TNNC1 NISCH RAD54L2 GLYCTK-AS1 MIR135A1 WDR82 GLYCTK RNU6-856P NT5DC2
GH03G052427 1.7 VISTA Ensembl ENCODE 0.4 +19.0 18983 3.2 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 GATA2 ZNF143 FOS SP5 TNNC1 NISCH GLYCTK-AS1 MIR135A1 GLYCTK WDR82 GNL3 SNORD69 PBRM1 NT5DC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHF7 on UCSC Golden Path with GeneCards custom track

Promoters for PHF7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152544 42 2401 PKNOX1 MLX SIN3A ARID4B DMAP1 YY1 ZNF766 ZNF143 ZNF207 SP3

Genomic Location for PHF7 Gene

Chromosome:
3
Start:
52,410,558 bp from pter
End:
52,423,641 bp from pter
Size:
13,084 bases
Orientation:
Plus strand

Genomic View for PHF7 Gene

Genes around PHF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHF7 Gene

Proteins for PHF7 Gene

  • Protein details for PHF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWX1-PHF7_HUMAN
    Recommended name:
    PHD finger protein 7
    Protein Accession:
    Q9BWX1
    Secondary Accessions:
    • K4DI82

    Protein attributes for PHF7 Gene

    Size:
    381 amino acids
    Molecular mass:
    43767 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PHF7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHF7 Gene

Post-translational modifications for PHF7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHF7 Gene

Domains & Families for PHF7 Gene

Gene Families for PHF7 Gene

Suggested Antigen Peptide Sequences for PHF7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PHF7: view

No data available for UniProtKB/Swiss-Prot for PHF7 Gene

Function for PHF7 Gene

Molecular function for PHF7 Gene

UniProtKB/Swiss-Prot Function:
May play a role in spermatogenesis.

Gene Ontology (GO) - Molecular Function for PHF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PHF7: view
genes like me logo Genes that share phenotypes with PHF7: view

Animal Model Products

CRISPR Products

miRNA for PHF7 Gene

miRTarBase miRNAs that target PHF7

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHF7 Gene

Localization for PHF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHF7 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 PHF7 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
golgi apparatus 4
extracellular 2
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for PHF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with PHF7: view

Pathways & Interactions for PHF7 Gene

No data available for Pathways by source and SIGNOR curated interactions for PHF7 Gene

Drugs & Compounds for PHF7 Gene

No Compound Related Data Available

Transcripts for PHF7 Gene

Unigene Clusters for PHF7 Gene

PHD finger protein 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHF7 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c
SP1: - -
SP2: - - - - - -
SP3: - -
SP4: -
SP5: - - - -
SP6: -
SP7: - -
SP8: - - - -
SP9:
SP10:

Relevant External Links for PHF7 Gene

GeneLoc Exon Structure for
PHF7
ECgene alternative splicing isoforms for
PHF7

Expression for PHF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHF7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHF7 Gene

This gene is overexpressed in Testis (x45.4).

Protein differential expression in normal tissues from HIPED for PHF7 Gene

This gene is overexpressed in Blymphocyte (32.9), Nasal epithelium (17.4), and Tlymphocyte (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHF7 Gene



Protein tissue co-expression partners for PHF7 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHF7 Gene:

PHF7

SOURCE GeneReport for Unigene cluster for PHF7 Gene:

Hs.372719

mRNA Expression by UniProt/SwissProt for PHF7 Gene:

Q9BWX1-PHF7_HUMAN
Tissue specificity: Highly expressed in Sertoli cells, but not in germ cells in adult testis. Expression in embryonic testis is 30-times lower. Highly expressed in colon, spleen, white blood cells, pancreas, lung, liver, placenta and brain. Detected at lower levels in thymus, small intestine, ovary and kidney.

Evidence on tissue expression from TISSUES for PHF7 Gene

  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with PHF7: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PHF7 Gene

Orthologs for PHF7 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHF7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHF7 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia PHF7 34 35
  • 92.65 (n)
cow
(Bos Taurus)
Mammalia PHF7 34 35
  • 89.76 (n)
mouse
(Mus musculus)
Mammalia Phf7 34 16 35
  • 86.38 (n)
rat
(Rattus norvegicus)
Mammalia Phf7 34
  • 84.21 (n)
oppossum
(Monodelphis domestica)
Mammalia PHF7 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHF7 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101750143 34
  • 51.24 (n)
-- 35
  • 42 (a)
OneToMany
-- 35
  • 41 (a)
OneToMany
-- 35
  • 39 (a)
OneToMany
-- 35
  • 39 (a)
OneToMany
-- 35
  • 38 (a)
OneToMany
-- 35
  • 38 (a)
OneToMany
-- 35
  • 38 (a)
OneToMany
-- 35
  • 38 (a)
OneToMany
-- 35
  • 37 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
-- 35
  • 34 (a)
OneToMany
-- 35
  • 33 (a)
OneToMany
-- 35
  • 33 (a)
OneToMany
-- 35
  • 33 (a)
OneToMany
-- 35
  • 32 (a)
OneToMany
-- 35
  • 31 (a)
OneToMany
-- 35
  • 25 (a)
OneToMany
-- 35
  • 25 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002929 34
  • 47.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9576 35
  • 20 (a)
ManyToMany
pie 35
  • 18 (a)
ManyToMany
Species where no ortholog for PHF7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PHF7 Gene

ENSEMBL:
Gene Tree for PHF7 (if available)
TreeFam:
Gene Tree for PHF7 (if available)

Paralogs for PHF7 Gene

Paralogs for PHF7 Gene

(3) SIMAP similar genes for PHF7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PHF7: view

Variants for PHF7 Gene

Sequence variations from dbSNP and Humsavar for PHF7 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_035957 A breast cancer sample
rs397509413 Pathogenic 52,409,597(-) AAGGG(-/GG)TGCAA upstream-variant-2KB, reference, frameshift-variant
rs200018055 Likely benign 52,409,888(+) CCGCG(A/G)GGCGG upstream-variant-2KB, utr-variant-5-prime
rs569715214 Likely benign 52,409,263(+) CAAAA(A/G)ACATT intron-variant, upstream-variant-2KB
rs372586694 Uncertain significance 52,409,555(+) TCACC(C/T)CTGAC upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PHF7 Gene

Variant ID Type Subtype PubMed ID
dgv2525n106 CNV deletion 24896259
nsv1073643 CNV deletion 25765185
nsv1114378 CNV deletion 24896259
nsv834696 CNV loss 17160897
nsv834697 CNV loss 17160897
nsv954859 CNV deletion 24416366

Variation tolerance for PHF7 Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.43; 42.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHF7 Gene

Human Gene Mutation Database (HGMD)
PHF7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHF7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHF7 Gene

Disorders for PHF7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PHF7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
polycystic kidney disease, adult type i
  • polycystic kidney disease 1
- elite association - COSMIC cancer census association via MalaCards
Search PHF7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PHF7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHF7
genes like me logo Genes that share disorders with PHF7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHF7 Gene

Publications for PHF7 Gene

  1. NYD-SP6, a novel gene potentially involved in regulating testicular development/spermatogenesis. (PMID: 11829468) Xiao J. … Sha J.H. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 22 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. The melanoma-associated antigen 1 (MAGEA1) protein stimulates the E3 ubiquitin-ligase activity of TRIM31 within a TRIM31-MAGEA1-NSE4 complex. (PMID: 25590999) Kozakova L. … Palecek J.J. (Cell Cycle 2015) 3 64

Products for PHF7 Gene

Sources for PHF7 Gene

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