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 associa... See more...

Aliases for PHF7 Gene

Aliases for PHF7 Gene

  • PHD Finger Protein 7 2 3 4 5
  • Testis Development Protein NYD-SP6 3 4
  • HSPC226 2 3
  • NYD-SP6 2 3
  • Testicular Secretory Protein Li 34 3
  • HSPC045 3
  • PHF7 5

External Ids for PHF7 Gene

Previous GeneCards Identifiers for PHF7 Gene

  • GC03P051537
  • GC03P051697
  • GC03P052300
  • GC03P052402
  • GC03P052419
  • GC03P052443

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 Granulomatous Orchitis and Polyposis Syndrome, Hereditary Mixed, 1. An important paralog of this gene is G2E3.

UniProtKB/Swiss-Prot Summary for PHF7 Gene

Additional gene information for PHF7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHF7 Gene

Genomics for PHF7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PHF7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J052408 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 0.0 -23 4.4 BRCA1 SP1 CREB1 GATAD2A CTCF PRDM10 TFE3 SIX5 IKZF1 ZNF692 BAP1 HSALNG0026149 PHF7 SEMA3G NISCH TNNC1 GLYCTK-AS1 MIR135A1 GLYCTK WDR82
GH03J052243 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.4 -164.8 -164757 4.9 SP1 TEAD4 PRDM10 TFE3 BACH1 LARP7 ZNF143 RELA ZIC2 RBFOX2 PPM1M MN297997 ITIH4 PBRM1 ENSG00000243224 GLYCTK IQCF2 IQCF5 PHF7 IQCF6
GH03J053345 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.3 +936.2 936221 3.7 SP1 CREB1 GATAD2A ATF7 TEAD4 PRDM10 ZNF629 SIX5 SOX13 NFKBIZ DCP1A lnc-PRKCD-3 lnc-TKT-3 NISCH PBRM1 ENSG00000271976 RFT1 PHF7 ENSG00000212608 PRKCD
GH03J052385 Enhancer 0.8 Ensembl ENCODE 12.7 -25.3 -25323 0.6 CTCF ZBTB33 TEAD4 JUND ZNF143 REST POLR2A TRIM22 NRF1 CBX3 BAP1 PHF7 GLYCTK-AS1 ENSG00000243224 TWF2 ENSG00000173366 MIR135A1 WDR82 GLYCTK TLR9
GH03J052074 Enhancer 0.3 FANTOM5 31.6 -336.0 -336033 0.2 ZMYM3 IQCF2 PHF7 IQCF5 IQCF1 IQCF6 HSALNG0026117 DUSP7 POC1A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHF7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHF7

Top Transcription factor binding sites by QIAGEN in the PHF7 gene promoter:
  • Nkx2-5
  • Sp1
  • SRF (504 AA)

Genomic Locations for PHF7 Gene

Genomic Locations for PHF7 Gene
chr3:52,410,624-52,423,641
(GRCh38/hg38)
Size:
13,018 bases
Orientation:
Plus strand
chr3:52,444,527-52,457,657
(GRCh37/hg19)
Size:
13,131 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PHF7 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Zn-finger-like, PHD finger
ProtoNet:

Suggested Antigen Peptide Sequences for PHF7 Gene

GenScript: Design optimal peptide antigens:
  • Testis development protein NYD-SP6 (PHF7_HUMAN)
genes like me logo Genes that share domains with PHF7: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for PHF7 Gene

Gene Ontology (GO) - Molecular Function for PHF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHF7

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
plasma membrane 4
cytosol 4
golgi apparatus 4
cytoskeleton 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PHF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
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

PathCards logo

SuperPathways for PHF7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHF7 Gene

None

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

mRNA/cDNA for PHF7 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHF7

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

Expression for PHF7 Gene

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



Protein tissue co-expression partners for PHF7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.5)
genes like me logo Genes that share expression patterns with PHF7: view

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 30 31
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PHF7 30 31
  • 92.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PHF7 30 31
  • 89.76 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Phf7 30 17 31
  • 86.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Phf7 30
  • 84.21 (n)
Oppossum
(Monodelphis domestica)
Mammalia PHF7 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PHF7 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC101750143 30
  • 51.24 (n)
-- 31
  • 42 (a)
OneToMany
-- 31
  • 41 (a)
OneToMany
-- 31
  • 39 (a)
OneToMany
-- 31
  • 39 (a)
OneToMany
-- 31
  • 38 (a)
OneToMany
-- 31
  • 38 (a)
OneToMany
-- 31
  • 38 (a)
OneToMany
-- 31
  • 38 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
-- 31
  • 34 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
-- 31
  • 32 (a)
OneToMany
-- 31
  • 31 (a)
OneToMany
-- 31
  • 25 (a)
OneToMany
-- 31
  • 25 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002929 30
  • 47.39 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9576 31
  • 20 (a)
ManyToMany
pie 31
  • 18 (a)
ManyToMany
Species where no ortholog for PHF7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PHF7: view image

Paralogs for PHF7 Gene

Paralogs for PHF7 Gene

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

  • PHF7_HUMAN
  • H7C4N0_HUMAN
  • H7C5Q8_HUMAN
genes like me logo Genes that share paralogs with PHF7: view

Variants for PHF7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHF7 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
776464 Benign: not provided 52,422,817(+) C/T SYNONYMOUS_VARIANT
776465 Benign: not provided 52,423,087(+) C/CCA SPLICE_ACCEPTOR_VARIANT
776466 Benign: not provided 52,423,266(+) C/T SYNONYMOUS_VARIANT
784008 Benign: not provided 52,422,820(+) C/T SYNONYMOUS_VARIANT
rs753391887 Uncertain Significance: Progressive sensorineural hearing impairment 52,421,657(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PHF7 Gene

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)

Additional Variant Information for PHF7 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PHF7 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
granulomatous orchitis
  • non-specific granulomatous orchitis
polyposis syndrome, hereditary mixed, 1
  • hmps1
hereditary mixed polyposis syndrome
  • hmps
- elite association - COSMIC cancer census association via MalaCards
Search PHF7 in MalaCards View complete list of genes associated with diseases
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 (Biochemical and biophysical research communications 2002) 2 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  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 QH … Chen Z (Genome research 2000) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for PHF7 Gene

  • Signalway ELISA kits for PHF7

Sources for PHF7 Gene