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

Gene ID: 55041, updated on 17-Jun-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 52.2), brain (RPKM 41.1) and 24 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (131105336..131149845)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131539321..131583809)
105.20220307 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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Related articles in PubMed

  1. Structural basis of the strict phospholipid binding specificity of the pleckstrin homology domain of human evectin-2. Okazaki S, et al. Acta Crystallogr D Biol Crystallogr, 2012 Feb. PMID 22281740
  2. Intracellular phosphatidylserine is essential for retrograde membrane traffic through endosomes. Uchida Y, et al. Proc Natl Acad Sci U S A, 2011 Sep 20. PMID 21911378, Free PMC Article
  3. Endosomal phosphatidylserine is critical for the YAP signalling pathway in proliferating cells. Matsudaira T, et al. Nat Commun, 2017 Nov 1. PMID 29093443, Free PMC Article
  4. Evectins: vesicular proteins that carry a pleckstrin homology domain and localize to post-Golgi membranes. Krappa R, et al. Proc Natl Acad Sci U S A, 1999 Apr 13. PMID 10200314, Free PMC Article
  5. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Dowler S, et al. Biochem J, 2000 Oct 1. PMID 11001876, Free PMC Article

See all (28) citations in PubMed

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)

Genotypes

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_2023_10

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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