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    PLEKHB2 pleckstrin homology domain containing B2 [ Homo sapiens (human) ]

    Gene ID: 55041, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PLEKHB2provided by HGNC
    Official Full Name
    pleckstrin homology domain containing B2provided by HGNC
    Primary source
    HGNC:HGNC:19236
    See related
    Ensembl:ENSG00000115762 MIM:618452; AllianceGenome:HGNC:19236
    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
    EVT2
    Summary
    Enables phosphatidylinositol-3,4,5-trisphosphate binding activity. Predicted to be involved in regulation of cell differentiation. Predicted to be located in recycling endosome membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 52.2), brain (RPKM 41.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHB2 in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (131105336..131149845)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131539321..131583809)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131862909..131907418)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131799328-131800200 Neighboring gene small integral membrane protein 39 Neighboring gene family with sequence similarity 168 member B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11964 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:131855480-131855651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131856285-131856785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131871473-131872062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16533 Neighboring gene NEK2 pseudogene 4 Neighboring gene neurofibromin 1 pseudogene 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of evectin-2 (a recycling endosome-resident protein) suppresses nuclear localization of YAP and YAP-dependent transcription. Evectin-2 knockdown reduces the ubiquitination and increased the level of Lats1.
      Title: Endosomal phosphatidylserine is critical for the YAP signalling pathway in proliferating cells.
    2. The crystal structure at 1.75 A resolution of an apo form of human evectin-2 pleckstrin homology domain, in which the ligand-binding site is free from crystal packing and is thus appropriate for comparison with the structure of the complex, is reported.
      Title: Structural basis of the strict phospholipid binding specificity of the pleckstrin homology domain of human evectin-2.
    3. Data show that depletion of evt-2 or masking of intracellular PS suppressed membrane traffic from REs to the Golgi.
      Title: Intracellular phosphatidylserine is essential for retrograde membrane traffic through endosomes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20783, FLJ23679, FLJ30436

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family B member 2
    Names
    PH domain-containing family B member 2
    evectin-2
    pleckstrin homology domain containing, family B (evectins) member 2

    NCBI Reference Sequences (RefSeq)

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    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_001100623.2 → NP_001094093.1  pleckstrin homology domain-containing family B member 2 isoform 3

      See identical proteins and their annotated locations for NP_001094093.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 4, which results in a protein (isoform 3) with a shorter C-terminus, compared to isoform 4.
      Source sequence(s)
      AI458777, AK054998, AK126289, BC050695, DR761393
      Consensus CDS
      CCDS46413.1
      UniProtKB/Swiss-Prot
      B4DF08, B4DZ66, B8ZZN1, Q53FF1, Q53TH7, Q86W37, Q96CS7, Q9BV75, Q9NWK1
      Related
      ENSP00000510611.1, ENST00000693505.1
      Conserved Domains (1) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain

    2. NM_001267062.2 → NP_001253991.1  pleckstrin homology domain-containing family B member 2 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (4).
      Source sequence(s)
      AK054998, AK126289, BC013991, BQ052811, BQ719002
      Consensus CDS
      CCDS74576.1
      UniProtKB/TrEMBL
      A0A0A0MSE9
      Related
      ENSP00000385892.2, ENST00000403716.5
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 100
      PH; PH domain

    3. NM_001267063.2 → NP_001253992.1  pleckstrin homology domain-containing family B member 2 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, compared to variant 4, which results in a protein (isoform 5) with a shorter C-terminus, compared to isoform 4.
      Source sequence(s)
      AK054998, BC013991, BQ719002, DB294071
      UniProtKB/Swiss-Prot
      Q96CS7
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 100
      PH; PH domain

    4. NM_001267064.2 → NP_001253993.1  pleckstrin homology domain-containing family B member 2 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has multiple differences in the 3' coding region, compared to variant 4, which results in a protein (isoform 6) with a shorter C-terminus, compared to isoform 4.
      Source sequence(s)
      AK054998, AK126289, BC013991, BQ649140, BQ719002
      UniProtKB/Swiss-Prot
      Q96CS7
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 100
      PH; PH domain

    5. NM_001267065.2 → NP_001253994.1  pleckstrin homology domain-containing family B member 2 isoform 7

      See identical proteins and their annotated locations for NP_001253994.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an in-frame exon and uses an alternate splice site in the 3' coding region, compared to variant 4, which results in a protein (isoform 7) with a shorter C-terminus, compared to isoform 4.
      Source sequence(s)
      AK000790, AK054998, AK126289, BQ719002
      Consensus CDS
      CCDS58730.1
      UniProtKB/Swiss-Prot
      Q96CS7
      Related
      ENSP00000386410.1, ENST00000409158.5
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 100
      PH; PH domain

    6. NM_001267066.2 → NP_001253995.1  pleckstrin homology domain-containing family B member 2 isoform 8

      See identical proteins and their annotated locations for NP_001253995.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks two exons in the 3' coding region, compared to variant 4, which results in a protein (isoform 8) with a shorter and distinct C-terminus, compared to isoform 4.
      Source sequence(s)
      AK054998, AK293880, BC013991, BQ719002
      Consensus CDS
      CCDS58729.1
      UniProtKB/Swiss-Prot
      Q96CS7
      Related
      ENSP00000401193.2, ENST00000438882.6
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 100
      PH; PH domain

    7. NM_001267067.2 → NP_001253996.1  pleckstrin homology domain-containing family B member 2 isoform 9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) lacks three exons in the 3' coding region, compared to variant 4, which results in a protein (isoform 9) with a shorter and distinct C-terminus, compared to isoform 4.
      Source sequence(s)
      AK054998, BC013991, BQ719002, DC303684
      Consensus CDS
      CCDS74577.1
      UniProtKB/TrEMBL
      A0A0A0MSI4
      Related
      ENSP00000389629.3, ENST00000439822.6
      Conserved Domains (2) summary
      cd13265
      Location:1 → 97
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 97
      PH; PH domain

    8. NM_001267068.2 → NP_001253997.1  pleckstrin homology domain-containing family B member 2 isoform 10

      See identical proteins and their annotated locations for NP_001253997.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) has multiple differences in the 3' coding region, compared to variant 4, which results in a protein (isoform 10) with a shorter and distinct C-terminus, compared to isoform 4.
      Source sequence(s)
      AK054998, AK302770, BC013991, BQ719002
      Consensus CDS
      CCDS58731.1
      UniProtKB/Swiss-Prot
      Q96CS7
      Related
      ENSP00000487321.1, ENST00000628582.2
      Conserved Domains (2) summary
      cd13265
      Location:1 → 98
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 97
      PH; PH domain

    9. NM_001309448.2 → NP_001296377.1  pleckstrin homology domain-containing family B member 2 isoform 11

      See identical proteins and their annotated locations for NP_001296377.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) lacks a portion of the 5' coding region, uses a downstream start codon, and lacks an exon in the 3' coding region, compared to variant 4. The encoded isoform (11) is shorter than isoform 4.
      Source sequence(s)
      AK054998, AK126289, AK296008, BC013991, BQ719002
      UniProtKB/TrEMBL
      B4DJB7
      Conserved Domains (1) summary
      cl17171
      Location:1 → 60
      PH-like; Pleckstrin homology-like domain

    10. NM_001309450.2 → NP_001296379.1  pleckstrin homology domain-containing family B member 2 isoform 12

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR, uses an alternate start codon, and lacks several exons in the coding region, compared to variant 4. The encoded isoform (12) has a shorter and unique N-terminus compared to isoform 4.
      Source sequence(s)
      AK054998, AK126289, BC013991, BQ719002, CK000843
      UniProtKB/Swiss-Prot
      Q96CS7

    11. NM_001309451.2 → NP_001296380.1  pleckstrin homology domain-containing family B member 2 isoform 13

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) lacks a portion of the 5' coding region, uses a downstream start codon, and lacks an exon in the 3' coding region, compared to variant 4. The encoded isoform (13) is shorter than isoform 4.
      Source sequence(s)
      AK054998, BC013991, BP362174, BQ719002
      UniProtKB/Swiss-Prot
      Q96CS7
      Conserved Domains (1) summary
      cl17171
      Location:1 → 60
      PH-like; Pleckstrin homology-like domain

    12. NM_001309452.2 → NP_001296381.1  pleckstrin homology domain-containing family B member 2 isoform 11

      See identical proteins and their annotated locations for NP_001296381.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) contains an alternate exon in the 5' UTR, uses a downstream start codon, and lacks an exon in the 3' coding region, compared to variant 4. The encoded isoform (11) is shorter than isoform 4. Both variants 11 and 14 encode the same isoform (11).
      Source sequence(s)
      AK054998, AK126289, BC013991, BQ719002, BU174451
      UniProtKB/TrEMBL
      B4DJB7
      Conserved Domains (1) summary
      cl17171
      Location:1 → 60
      PH-like; Pleckstrin homology-like domain

    13. NM_017958.3 → NP_060428.2  pleckstrin homology domain-containing family B member 2 isoform 2

      See identical proteins and their annotated locations for NP_060428.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon and uses an alternate splice site in the 3' coding region, compared to variant 4, which results in a protein (isoform 2) with a shorter C-terminus, compared to isoform 4.
      Source sequence(s)
      AI458777, AK054998, AK223338, DR761393
      Consensus CDS
      CCDS2166.1
      UniProtKB/Swiss-Prot
      Q96CS7
      Related
      ENSP00000234115.6, ENST00000234115.10
      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 100
      PH; PH 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      131105336..131149845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511385.4 → XP_011509687.1  pleckstrin homology domain-containing family B member 2 isoform X1

      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 100
      PH; PH domain

    2. XM_011511386.3 → XP_011509688.1  pleckstrin homology domain-containing family B member 2 isoform X2

      Conserved Domains (2) summary
      cd13265
      Location:1 → 108
      PH_evt; Evectin Pleckstrin homology (PH) domain
      pfam00169
      Location:4 → 100
      PH; PH domain

    3. XM_017004408.2 → XP_016859897.1  pleckstrin homology domain-containing family B member 2 isoform X3

    4. XM_017004410.2 → XP_016859899.1  pleckstrin homology domain-containing family B member 2 isoform X5

    5. XM_047444846.1 → XP_047300802.1  pleckstrin homology domain-containing family B member 2 isoform X6

    6. XM_017004409.2 → XP_016859898.1  pleckstrin homology domain-containing family B member 2 isoform X4

    7. XM_047444847.1 → XP_047300803.1  pleckstrin homology domain-containing family B member 2 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      131539321..131583809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342706.1 → XP_054198681.1  pleckstrin homology domain-containing family B member 2 isoform X1

    2. XM_054342700.1 → XP_054198675.1  pleckstrin homology domain-containing family B member 2 isoform X1

    3. XM_054342701.1 → XP_054198676.1  pleckstrin homology domain-containing family B member 2 isoform X2

    4. XM_054342702.1 → XP_054198677.1  pleckstrin homology domain-containing family B member 2 isoform X3

    5. XM_054342704.1 → XP_054198679.1  pleckstrin homology domain-containing family B member 2 isoform X5

    6. XM_054342705.1 → XP_054198680.1  pleckstrin homology domain-containing family B member 2 isoform X6

    7. XM_054342703.1 → XP_054198678.1  pleckstrin homology domain-containing family B member 2 isoform X4

    8. XM_054342707.1 → XP_054198682.1  pleckstrin homology domain-containing family B member 2 isoform X7

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001031706.1: Suppressed sequence

      Description
      NM_001031706.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CS7.1 GenPept UniProtKB/Swiss-Prot:Q96CS7

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