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Aliases for PHTF2 Gene

Aliases for PHTF2 Gene

  • Putative Homeodomain Transcription Factor 2 2 3 3 5

External Ids for PHTF2 Gene

Previous GeneCards Identifiers for PHTF2 Gene

  • GC07U990289
  • GC07P075963
  • GC07P077026
  • GC07P077040
  • GC07P077081
  • GC07P077072
  • GC07P077266
  • GC07P077428
  • GC07P072031

Summaries for PHTF2 Gene

GeneCards Summary for PHTF2 Gene

PHTF2 (Putative Homeodomain Transcription Factor 2) is a Protein Coding gene. An important paralog of this gene is PHTF1.

UniProtKB/Swiss-Prot for PHTF2 Gene

  • May play a role in transcription regulation.

Gene Wiki entry for PHTF2 Gene

Additional gene information for PHTF2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHTF2 Gene

Genomics for PHTF2 Gene

GeneHancer (GH) Regulatory Elements for PHTF2 Gene

Promoters and enhancers for PHTF2 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
GH07J077796 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 654.8 +0.1 134 4.5 CLOCK DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 TMEM60 PHTF2 RSBN1L SPDYE18 FAM185BP SPDYE17 APTR PMS2P9 LOC100422695 CCDC146
GH07J077840 Promoter 0.8 EPDnew 650.3 +41.3 41319 0.1 FOXA2 GTF2E2 SCRT2 FOXA1 PHTF2 GC07P077851
GH07J077694 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.4 -101.7 -101703 5.4 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 APTR RSBN1L SPDYE18 PMS2P9 TMEM60 DTX2P1 FAM185BP SPDYE17 PHTF2 PTPN12
GH07J077833 Enhancer 1.1 Ensembl ENCODE 11.8 +35.7 35740 2.2 ATF1 PKNOX1 CLOCK FOXA2 ARNT SIN3A NCOA2 ZNF766 GATA2 FOS PTPN12 TMEM60 PHTF2 APTR GC07P077851
GH07J077866 Enhancer 1 Ensembl ENCODE 11.3 +68.4 68419 2.1 FOXA2 ZNF792 JUN SIN3A CEBPG ZNF316 ZNF366 POLR2A ATF7 FOS APTR PTPN12 TMEM60 PHTF2 GC07P077851 GC07P077896
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHTF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHTF2 gene promoter:
  • C/EBPalpha
  • E4BP4
  • MZF-1
  • Chx10
  • AML1a
  • HNF-3beta
  • c-Ets-1
  • S8
  • FOXD3
  • HOXA3

Genomic Locations for PHTF2 Gene

Genomic Locations for PHTF2 Gene
chr7:77,798,792-77,957,504
(GRCh38/hg38)
Size:
158,713 bases
Orientation:
Plus strand
chr7:77,428,109-77,586,821
(GRCh37/hg19)
Size:
158,713 bases
Orientation:
Plus strand

Genomic View for PHTF2 Gene

Genes around PHTF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHTF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHTF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHTF2 Gene

Proteins for PHTF2 Gene

  • Protein details for PHTF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3S3-PHTF2_HUMAN
    Recommended name:
    Putative homeodomain transcription factor 2
    Protein Accession:
    Q8N3S3
    Secondary Accessions:
    • A0JP04
    • A0JP05
    • A4D1C2
    • B3KQZ2
    • E9PEE3
    • G5E9H7
    • Q6NW35
    • Q8TBW4
    • Q9H099

    Protein attributes for PHTF2 Gene

    Size:
    785 amino acids
    Molecular mass:
    88757 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PHTF2 Gene

neXtProt entry for PHTF2 Gene

Post-translational modifications for PHTF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHTF2 Gene

Domains & Families for PHTF2 Gene

Gene Families for PHTF2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for PHTF2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PHTF2: view

No data available for UniProtKB/Swiss-Prot for PHTF2 Gene

Function for PHTF2 Gene

Molecular function for PHTF2 Gene

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

Phenotypes From GWAS Catalog for PHTF2 Gene

Gene Ontology (GO) - Molecular Function for PHTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with PHTF2: view
genes like me logo Genes that share phenotypes with PHTF2: view

Animal Models for PHTF2 Gene

MGI Knock Outs for PHTF2:
  • Phtf2 Phtf2<tm1a(EUCOMM)Wtsi>

Animal Model Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHTF2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PHTF2 Gene

Localization for PHTF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHTF2 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 PHTF2 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
plasma membrane 3
peroxisome 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PHTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with PHTF2: view

Pathways & Interactions for PHTF2 Gene

SuperPathways for PHTF2 Gene

No Data Available

Interacting Proteins for PHTF2 Gene

Gene Ontology (GO) - Biological Process for PHTF2 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 PHTF2: view

No data available for Pathways by source and SIGNOR curated interactions for PHTF2 Gene

Drugs & Compounds for PHTF2 Gene

No Compound Related Data Available

Transcripts for PHTF2 Gene

Unigene Clusters for PHTF2 Gene

Putative homeodomain transcription factor 2:
Representative Sequences:

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHTF2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHTF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^
SP1: - - - -
SP2: - -
SP3: -
SP4: - - -
SP5:
SP6: - - -
SP7: -

ExUns: 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PHTF2 Gene

GeneLoc Exon Structure for
PHTF2
ECgene alternative splicing isoforms for
PHTF2

Expression for PHTF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHTF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHTF2 Gene

This gene is overexpressed in Muscle - Skeletal (x8.1).

Protein differential expression in normal tissues from HIPED for PHTF2 Gene

This gene is overexpressed in Heart (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHTF2 Gene



Protein tissue co-expression partners for PHTF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHTF2 Gene:

PHTF2

SOURCE GeneReport for Unigene cluster for PHTF2 Gene:

Hs.203965

Evidence on tissue expression from TISSUES for PHTF2 Gene

  • Nervous system(4.4)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with PHTF2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHTF2 Gene

Orthologs for PHTF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHTF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHTF2 34 33
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PHTF2 34 33
  • 94.94 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PHTF2 34 33
  • 94.72 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHTF2 34
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHTF2 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phtf2 16 34 33
  • 89.11 (n)
rat
(Rattus norvegicus)
Mammalia Phtf2 33
  • 87.63 (n)
chicken
(Gallus gallus)
Aves PHTF2 34 33
  • 83.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHTF2 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phtf2 33
  • 77.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32632 33
zebrafish
(Danio rerio)
Actinopterygii phtf2 34
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta phtf 34 33
  • 51.93 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToMany
Species where no ortholog for PHTF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 PHTF2 Gene

ENSEMBL:
Gene Tree for PHTF2 (if available)
TreeFam:
Gene Tree for PHTF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHTF2: view image

Paralogs for PHTF2 Gene

Paralogs for PHTF2 Gene

(2) SIMAP similar genes for PHTF2 Gene using alignment to 3 proteins:

  • PHTF2_HUMAN
  • B3KQZ2_HUMAN
  • Q8WVD6_HUMAN
genes like me logo Genes that share paralogs with PHTF2: view

Variants for PHTF2 Gene

Sequence variations from dbSNP and Humsavar for PHTF2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000012720 -- 77,876,570(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000043950 -- 77,916,977(+) A/G intron_variant
rs1000067081 -- 77,843,467(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000071578 -- 77,867,060(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000078084 -- 77,888,974(+) G/A/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PHTF2 Gene

Variant ID Type Subtype PubMed ID
esv2734704 CNV deletion 23290073
esv3422869 CNV insertion 20981092
esv3571932 CNV loss 25503493
esv3571933 CNV loss 25503493
esv3571934 CNV loss 25503493
esv3613808 CNV loss 21293372
nsv365729 CNV deletion 16902084
nsv366262 CNV deletion 16902084
nsv607654 CNV gain 21841781

Variation tolerance for PHTF2 Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 28.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHTF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHTF2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHTF2 Gene

Disorders for PHTF2 Gene

Additional Disease Information for PHTF2

No disorders were found for PHTF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHTF2 Gene

Publications for PHTF2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Molecular characterization of a novel gene family (PHTF) conserved from Drosophila to mammals. (PMID: 10729229) Manuel A … Raich N (Genomics 2000) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for PHTF2 Gene

Sources for PHTF2 Gene

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