U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 [ Homo sapiens (human) ]

    Gene ID: 23035, updated on 10-Dec-2024

    Summary

    Official Symbol
    PHLPP2provided by HGNC
    Official Full Name
    PH domain and leucine rich repeat protein phosphatase 2provided by HGNC
    Primary source
    HGNC:HGNC:29149
    See related
    Ensembl:ENSG00000040199 MIM:611066; AllianceGenome:HGNC:29149
    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
    PPM3B; PHLPPL
    Summary
    Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in signal transduction. Located in several cellular components, including intercellular bridge; mitotic spindle; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in small intestine (RPKM 11.5), colon (RPKM 5.9) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PHLPP2 in Genome Data Viewer
    Location:
    16q22.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (71644924..71724701, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77462088..77541847, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71678827..71758604, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7682 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:71671387-71671938 Neighboring gene uncharacterized LOC124903711 Neighboring gene MARVEL domain containing 3 Neighboring gene Sharpr-MPRA regulatory region 2747 Neighboring gene uncharacterized LOC124903712 Neighboring gene RNA, U6 small nuclear 208, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11076 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:71741784-71742412 Neighboring gene small nucleolar RNA, H/ACA box 70D Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71756941-71757442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7684 Neighboring gene adaptor related protein complex 1 subunit gamma 1 Neighboring gene small nucleolar RNA, C/D box 71 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:71808874-71809101 Neighboring gene parathymosin-like

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0931

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in photoreceptor outer segment membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    PH domain leucine-rich repeat-containing protein phosphatase 2
    Names
    protein phosphatase, Mg2+/Mn2+ dependent 3B
    NP_001275932.1
    NP_055835.2

    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_001289003.1NP_001275932.1  PH domain leucine-rich repeat-containing protein phosphatase 2 isoform 2

      See identical proteins and their annotated locations for NP_001275932.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AB023148, AC009097, BC129927
      Consensus CDS
      CCDS73910.1
      UniProtKB/TrEMBL
      H3BMS5
      Related
      ENSP00000377159.2, ENST00000393524.6
      Conserved Domains (5) summary
      cd00116
      Location:444660
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd00143
      Location:717966
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
      cd13322
      Location:149243
      PH_PHLPP-like; PH domain leucine-rich repeat protein phosphatase family Pleckstrin homology-like domain
      sd00033
      Location:442461
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:572636
      LRR_8; Leucine rich repeat
    2. NM_015020.3NP_055835.2  PH domain leucine-rich repeat-containing protein phosphatase 2 isoform 1

      See identical proteins and their annotated locations for NP_055835.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC009097, BC129927, BX647823
      Consensus CDS
      CCDS32479.1
      UniProtKB/Swiss-Prot
      A1L374, Q6ZVD8, Q9NV17, Q9Y2E3
      UniProtKB/TrEMBL
      H3BMS5
      Related
      ENSP00000457991.1, ENST00000568954.5
      Conserved Domains (6) summary
      cd00116
      Location:313606
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd00143
      Location:7841033
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...
      cd13322
      Location:149243
      PH_PHLPP-like; PH domain leucine-rich repeat protein phosphatase family Pleckstrin homology-like domain
      sd00033
      Location:482503
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:645685
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:645703
      LRR_8; Leucine rich repeat

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      71644924..71724701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      77462088..77541847 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)