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Aliases for PHETA2 Gene

Aliases for PHETA2 Gene

  • PH Domain Containing Endocytic Trafficking Adaptor 2 2 3
  • Family With Sequence Similarity 109 Member B 2 3 5
  • 27 KDa Inositol Polyphosphate Phosphatase Interacting Protein B 3 4
  • Inositol Polyphosphate Phosphatase-Interacting Protein B 2 3
  • Sesquipedalian-2 2 3
  • FAM109B 3 5
  • IPIP27B 3 4
  • Ses2 3 4
  • Family With Sequence Similarity 109, Member B 2

External Ids for PHETA2 Gene

Previous HGNC Symbols for PHETA2 Gene

  • FAM109B

Summaries for PHETA2 Gene

GeneCards Summary for PHETA2 Gene

PHETA2 (PH Domain Containing Endocytic Trafficking Adaptor 2) is a Protein Coding gene. An important paralog of this gene is PHETA1.

UniProtKB/Swiss-Prot for PHETA2 Gene

  • Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.

Additional gene information for PHETA2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHETA2 Gene

Genomics for PHETA2 Gene

GeneHancer (GH) Regulatory Elements for PHETA2 Gene

Promoters and enhancers for PHETA2 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
GH22J042073 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 656.1 +0.4 421 2.4 CTCF ZNF274 POLR2A NR2F1 ZFP36 PHETA2 SNORD13P1 SMDT1 CYP2D6 EP300 ENSG00000232754 EP300-AS1 POLDIP3 XRCC6 RN7SKP80
GH22J042612 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 18.4 +540.2 540233 4.3 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 POLDIP3 GC22P042614 GC22P042618 GC22P042619 RNU12 ENSG00000270022 XRCC6 RPL5P34 NAGA RRP7BP
GH22J041379 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -692.3 -692288 4 HDGF PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A YY1 ZNF213 FOS LOC105373042 TEF EP300 MEI1 POLR3H EP300-AS1 ENSG00000272834 XRCC6 PHF5A LOC100313968
GH22J041467 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10 -603.4 -603421 7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 PHF5A ACO2 POLR3H MEI1 TOB2 EP300 NAGA CSDC2 L3MBTL2 PHETA2
GH22J042021 Enhancer 0.8 Ensembl ENCODE 11.7 -52.0 -51960 2.4 ELF1 ZIC2 ZNF507 FOXK2 GLIS1 IKZF1 EED GABPB1 NFE2 ETV6 SMDT1 CYP2D6 WBP2NL SLC25A5P1 SEPT3 NAGA PHETA2 TCF20 LINC00634 NDUFA6-DT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PHETA2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PHETA2 Gene

Genomic Locations for PHETA2 Gene
chr22:42,074,251-42,079,441
(GRCh38/hg38)
Size:
5,191 bases
Orientation:
Plus strand
chr22:42,470,255-42,475,445
(GRCh37/hg19)

Genomic View for PHETA2 Gene

Genes around PHETA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHETA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHETA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHETA2 Gene

Proteins for PHETA2 Gene

  • Protein details for PHETA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ICB4-SESQ2_HUMAN
    Recommended name:
    Sesquipedalian-2
    Protein Accession:
    Q6ICB4
    Secondary Accessions:
    • Q3SXQ3
    • Q8N6L9

    Protein attributes for PHETA2 Gene

    Size:
    259 amino acids
    Molecular mass:
    28338 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with FAM109A. Interacts with OCRL and INPP5B.
    Miscellaneous:
    • Was named after sesquipedalian, an unnecessarily long description of a simple thing.

neXtProt entry for PHETA2 Gene

Post-translational modifications for PHETA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHETA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PHETA2 Gene

Domains & Families for PHETA2 Gene

Gene Families for PHETA2 Gene

Protein Domains for PHETA2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PHETA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ICB4

UniProtKB/Swiss-Prot:

SESQ2_HUMAN :
  • The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.
  • Belongs to the sesquipedalian family.
Domain:
  • The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.
Family:
  • Belongs to the sesquipedalian family.
genes like me logo Genes that share domains with PHETA2: view

Function for PHETA2 Gene

Molecular function for PHETA2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.

Phenotypes From GWAS Catalog for PHETA2 Gene

Gene Ontology (GO) - Molecular Function for PHETA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21233288
GO:0042803 protein homodimerization activity IPI 21233288
genes like me logo Genes that share ontologies with PHETA2: view
genes like me logo Genes that share phenotypes with PHETA2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHETA2 Gene

Localization for PHETA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHETA2 Gene

Early endosome. Recycling endosome. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Also found on macropinosomes. Not detected in late endosomes, nor in lysosomes.

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 PHETA2 gene
Compartment Confidence
golgi apparatus 5
endosome 5
cytosol 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PHETA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA,IEA 21233288
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 21233288
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with PHETA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PHETA2 Gene

Pathways & Interactions for PHETA2 Gene

SuperPathways for PHETA2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHETA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IMP 21233288
GO:0007032 endosome organization IMP 21233288
GO:0042147 retrograde transport, endosome to Golgi IMP 21233288
genes like me logo Genes that share ontologies with PHETA2: view

No data available for Pathways by source and SIGNOR curated interactions for PHETA2 Gene

Drugs & Compounds for PHETA2 Gene

No Compound Related Data Available

Transcripts for PHETA2 Gene

mRNA/cDNA for PHETA2 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for PHETA2 Gene

No ASD Table

Relevant External Links for PHETA2 Gene

GeneLoc Exon Structure for
PHETA2
ECgene alternative splicing isoforms for
PHETA2

Expression for PHETA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PHETA2 Gene:

PHETA2

Evidence on tissue expression from TISSUES for PHETA2 Gene

  • Intestine(4.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHETA2 Gene

Orthologs for PHETA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHETA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM109B 34 33
  • 98.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM109B 34 33
  • 86.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM109B 34 33
  • 83.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam109b 33
  • 81.6 (n)
mouse
(Mus musculus)
Mammalia Fam109b 34 33
  • 80.57 (n)
OneToOne
Pheta2 16
oppossum
(Monodelphis domestica)
Mammalia FAM109B 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM109B 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM109B 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM109B 34
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:153733 34
  • 25 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12393 34
  • 20 (a)
OneToMany
Species where no ortholog for PHETA2 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHETA2 Gene

ENSEMBL:
Gene Tree for PHETA2 (if available)
TreeFam:
Gene Tree for PHETA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHETA2: view image

Paralogs for PHETA2 Gene

Paralogs for PHETA2 Gene

Pseudogenes.org Pseudogenes for PHETA2 Gene

genes like me logo Genes that share paralogs with PHETA2: view

Variants for PHETA2 Gene

Sequence variations from dbSNP and Humsavar for PHETA2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000215125 -- 42,076,912(+) A/G intron_variant
rs1000227213 -- 42,073,809(+) G/A upstream_transcript_variant
rs1000656075 -- 42,078,630(+) G/A 3_prime_UTR_variant
rs1001370721 -- 42,077,060(+) T/C intron_variant
rs1002317807 -- 42,075,507(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PHETA2 Gene

Variant ID Type Subtype PubMed ID
nsv508737 CNV insertion 20534489
nsv834210 CNV loss 17160897

Variation tolerance for PHETA2 Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHETA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHETA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHETA2 Gene

Disorders for PHETA2 Gene

Additional Disease Information for PHETA2

No disorders were found for PHETA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHETA2 Gene

Publications for PHETA2 Gene

  1. The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. (PMID: 21233288) Noakes CJ … Lowe M (Molecular biology of the cell 2011) 3 4 58
  2. Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. (PMID: 20133602) Swan LE … De Camilli P (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 58
  3. 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 58
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58

Products for PHETA2 Gene

Sources for PHETA2 Gene

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