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

Gene ID: 55041, updated on 15-Jun-2019

Summary

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
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
Expression
Ubiquitous expression in kidney (RPKM 52.2), brain (RPKM 41.1) and 24 other tissues See more
Orthologs

Genomic context

See PLEKHB2 in Genome Data Viewer
Location:
2q21.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (131104847..131149852)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131862420..131907425)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CYCS pseudogene 8 Neighboring gene Rho guanine nucleotide exchange factor 4 Neighboring gene family with sequence similarity 168 member B Neighboring gene NEK2 pseudogene 4 Neighboring gene neurofibromin 1 pseudogene 8

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

Homology

Clone Names

  • FLJ20783, FLJ23679, FLJ30436

Gene Ontology Provided by GOA

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

General protein information

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)

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_001100623.1NP_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
    Q96CS7
    UniProtKB/TrEMBL
    A0A024QZ35
    Related
    ENSP00000386666.1, ENST00000409279.1
    Conserved Domains (1) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
  2. NM_001267062.1NP_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)
    AI458777, AK054998, AK126289, BC013991, BQ052811, BQ719002
    Consensus CDS
    CCDS74576.1
    UniProtKB/Swiss-Prot
    Q96CS7
    UniProtKB/TrEMBL
    A0A0A0MSE9
    Related
    ENSP00000385892.2, ENST00000403716.5
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:4100
    PH; PH domain
  3. NM_001267063.1NP_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)
    AI458777, AK054998, AK126289, BC013991, BQ719002, DB294071
    UniProtKB/Swiss-Prot
    Q96CS7
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:4100
    PH; PH domain
  4. NM_001267064.1NP_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)
    AI458777, AK054998, AK126289, BC013991, BQ649140, BQ719002
    UniProtKB/Swiss-Prot
    Q96CS7
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:4100
    PH; PH domain
  5. NM_001267065.1NP_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)
    AI458777, AK000790, AK054998, AK126289, BQ719002
    Consensus CDS
    CCDS58730.1
    UniProtKB/Swiss-Prot
    Q96CS7
    Related
    ENSP00000386410.1, ENST00000409158.5
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:4100
    PH; PH domain
  6. NM_001267066.1NP_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)
    AI458777, AK054998, AK126289, AK293880, BC013991, BQ719002
    Consensus CDS
    CCDS58729.1
    UniProtKB/Swiss-Prot
    Q96CS7
    Related
    ENSP00000401193.2, ENST00000438882.6
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:4100
    PH; PH domain
  7. NM_001267067.1NP_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)
    AI458777, AK054998, AK126289, BC013991, BQ719002, DC303684
    Consensus CDS
    CCDS74577.1
    UniProtKB/Swiss-Prot
    Q96CS7
    UniProtKB/TrEMBL
    A0A0A0MSI4
    Related
    ENSP00000389629.3, ENST00000439822.6
    Conserved Domains (2) summary
    cd13265
    Location:197
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:497
    PH; PH domain
  8. NM_001267068.1NP_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)
    AI458777, AK054998, AK126289, AK302770, BC013991, BQ719002
    Consensus CDS
    CCDS58731.1
    UniProtKB/Swiss-Prot
    Q96CS7
    Related
    ENSP00000487321.1, ENST00000628582.2
    Conserved Domains (2) summary
    cd13265
    Location:198
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:497
    PH; PH domain
  9. NM_001309448.1NP_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)
    AI458777, AK054998, AK126289, AK296008, BC013991, BQ719002
    UniProtKB/Swiss-Prot
    Q96CS7
    UniProtKB/TrEMBL
    B4DJB7
    Conserved Domains (1) summary
    cl17171
    Location:160
    PH-like; Pleckstrin homology-like domain
  10. NM_001309450.1NP_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)
    AI458777, AK054998, AK126289, BC013991, BQ719002, CK000843
    UniProtKB/Swiss-Prot
    Q96CS7
  11. NM_001309451.1NP_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)
    AI458777, AK054998, AK126289, BC013991, BP362174, BQ719002
    UniProtKB/Swiss-Prot
    Q96CS7
    Conserved Domains (1) summary
    cl17171
    Location:160
    PH-like; Pleckstrin homology-like domain
  12. NM_001309452.1NP_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)
    AI458777, AK054998, AK126289, BC013991, BQ719002, BU174451
    UniProtKB/Swiss-Prot
    Q96CS7
    UniProtKB/TrEMBL
    B4DJB7
    Conserved Domains (1) summary
    cl17171
    Location:160
    PH-like; Pleckstrin homology-like domain
  13. NM_017958.2NP_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, AK126289, AK223338, DR761393
    Consensus CDS
    CCDS2166.1
    UniProtKB/Swiss-Prot
    Q96CS7
    Related
    ENSP00000234115.6, ENST00000234115.10
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:4100
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    131104847..131149852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004411.1XP_016859900.1  pleckstrin homology domain-containing family B member 2 isoform X6

    UniProtKB/Swiss-Prot
    Q96CS7
    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:4100
    PH; PH domain
  2. XM_017004412.1XP_016859901.1  pleckstrin homology domain-containing family B member 2 isoform X7

    UniProtKB/Swiss-Prot
    Q96CS7
    UniProtKB/TrEMBL
    A0A024QZ35
    Related
    ENSP00000386662.1, ENST00000409612.5
    Conserved Domains (1) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
  3. XM_011511386.2XP_011509688.1  pleckstrin homology domain-containing family B member 2 isoform X2

    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:4100
    PH; PH domain
  4. XM_011511385.3XP_011509687.1  pleckstrin homology domain-containing family B member 2 isoform X1

    Conserved Domains (2) summary
    cd13265
    Location:1108
    PH_evt; Evectin Pleckstrin homology (PH) domain
    pfam00169
    Location:4100
    PH; PH domain
  5. XM_017004413.1XP_016859902.1  pleckstrin homology domain-containing family B member 2 isoform X8

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

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

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

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.
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