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    PHETA2 PH domain containing endocytic trafficking adaptor 2 [ Homo sapiens (human) ]

    Gene ID: 150368, updated on 27-Nov-2024

    Summary

    Official Symbol
    PHETA2provided by HGNC
    Official Full Name
    PH domain containing endocytic trafficking adaptor 2provided by HGNC
    Primary source
    HGNC:HGNC:27161
    See related
    Ensembl:ENSG00000177096 MIM:614240; AllianceGenome:HGNC:27161
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Ses2; FAM109B; IPIP27B
    Summary
    Enables protein homodimerization activity. Involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 8.4), urinary bladder (RPKM 5.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PHETA2 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42074248..42079438)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42553831..42559027)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42470252..42475442)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42396708-42397907 Neighboring gene solute carrier family 25 member 5 pseudogene 1 Neighboring gene WBP2 N-terminal like Neighboring gene CYP2D6 downstream enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19152 Neighboring gene uncharacterized LOC107985551 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42462918-42464117 Neighboring gene alpha-N-acetylgalactosaminidase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19153 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42469572-42470304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42470305-42471035 Neighboring gene Sharpr-MPRA regulatory region 6008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42473646-42474208 Neighboring gene Sharpr-MPRA regulatory region 7943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42475449-42476221 Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 1 Neighboring gene single-pass membrane protein with aspartate rich tail 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit A6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC125831, MGC125832, DKFZp686J07229

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in receptor recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in receptor recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sesquipedalian-2
    Names
    27 kDa inositol polyphosphate phosphatase interacting protein B
    family with sequence similarity 109 member B
    inositol polyphosphate phosphatase-interacting protein B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001002034.3NP_001002034.2  sesquipedalian-2

      See identical proteins and their annotated locations for NP_001002034.2

      Status: VALIDATED

      Source sequence(s)
      BX648402, Z82192, Z99716
      Consensus CDS
      CCDS33655.1
      UniProtKB/Swiss-Prot
      Q3SXQ3, Q6ICB4, Q8N6L9
      Related
      ENSP00000312753.3, ENST00000321753.8
      Conserved Domains (1) summary
      cl17171
      Location:11138
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42074248..42079438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315971.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1..1783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_004504305.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1..1783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_187682.1 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1..1783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42553831..42559027
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)