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    PLCB4 phospholipase C beta 4 [ Homo sapiens (human) ]

    Gene ID: 5332, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PLCB4provided by HGNC
    Official Full Name
    phospholipase C beta 4provided by HGNC
    Primary source
    HGNC:HGNC:9059
    See related
    Ensembl:ENSG00000101333 MIM:600810; AllianceGenome:HGNC:9059
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARCND2; PI-PLC; ARCND2A; ARCND2B
    Summary
    The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
    Expression
    Broad expression in thyroid (RPKM 7.9), salivary gland (RPKM 5.4) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLCB4 in Genome Data Viewer
    Location:
    20p12.3-p12.2
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (9068678..9480808)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (9111633..9523716)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (9049325..9461455)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene phospholipase C beta 1 Neighboring gene Sharpr-MPRA regulatory region 2883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:8917332-8917836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:8917837-8918339 Neighboring gene RNA, U105B small nucleolar Neighboring gene uncharacterized LOC105372522 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:9031646-9032845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:9055836-9056336 Neighboring gene Sharpr-MPRA regulatory region 7247 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:9160877-9161492 Neighboring gene MPRA-validated peak4143 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17537 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:9496172-9496756 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:9499300-9500006 Neighboring gene uncharacterized LOC105372523 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:9553223-9553723 Neighboring gene LAMP5 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:9557290-9557799 Neighboring gene lysosomal associated membrane protein family member 5 Neighboring gene p21 (RAC1) activated kinase 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4. Johansson P, et al. Oncotarget, 2016 Jan 26. PMID 26683228, Free PMC Article
    2. Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation. Leoni C, et al. Am J Med Genet A, 2016 Jun. PMID 27007857
    3. PLCB4 copy gain and PLCß4 overexpression in primary gastrointestinal stromal tumors: Integrative characterization of a lipid-catabolizing enzyme associated with worse disease-free survival. Li CF, et al. Oncotarget, 2017 Mar 21. PMID 28212550, Free PMC Article
    4. cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4). Alvarez RA, et al. Genomics, 1995 Sep 1. PMID 8530101
    5. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. Romanelli Tavares VL, et al. Am J Med Genet A, 2017 Apr. PMID 28328130

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women.
      Title: Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women.
    2. Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
      Title: Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
    3. The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation.
      Title: The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation.
    4. Uveal melanoma-associated mutations in PLCbeta4 are constitutively activating and promote melanocyte proliferation and tumorigenesis.
      Title: Uveal melanoma-associated mutations in PLCβ4 are constitutively activating and promote melanocyte proliferation and tumorigenesis.
    5. Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients.
      Title: Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients.
    6. A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.
      Title: A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.
    7. Dysregulation of primary PLC signaling is linked to several brain disorders including epilepsy, schizophrenia, bipolar disorder, Huntington's disease, depression and Alzheimer's disease. (Review)
      Title: Primary phospholipase C and brain disorders.
    8. Novel pathogenic variants in PLCB4 have been found in two of three index patients with typical Auriculocondylar syndrome.
      Title: Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
    9. Our observations of this case further delineate the phenotype of ACS associated with autosomal recessive PLCB4 loss-of-function mutations, underscoring gastrointestinal dysfunction and severe sleep-related breathing abnormalities as additional features when compared to patients with heterozygous mutations with a presumed dominant negative effect.
      Title: Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
    10. PLCB4 copy gain and PLCB4 overexpression is associated with gastrointestinal stromal tumors.
      Title: PLCB4 copy gain and PLCß4 overexpression in primary gastrointestinal stromal tumors: Integrative characterization of a lipid-catabolizing enzyme associated with worse disease-free survival.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Auriculocondylar syndrome 2
    MedGen: C3553404 OMIM: 614669 GeneReviews: Not available
    		not available
    Auriculocondylar syndrome 2B
    MedGen: C5830664 OMIM: 620458 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 envelope glycoproteins gp120 and gp160 directly and specifically impair the CD3/TcR-mediated activation of phospholipase C (PLC) via the CD4 molecule in uninfected T cells PubMed
    Tat tat Phospholipase C/protein kinase C pathway-dependent phosphorylation of p44/42 and JNK MAP kinases is partially involved in IL-1beta induction by HIV-1 Tat PubMed
    tat HIV-1 Tat induces release of calcium and TNF-alpha production, an effect mediated at least in part by activation of phospholipase C PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16169

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol phospholipase C activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipase C activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phospholipase C-activating endothelin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in release of sequestered calcium ion into cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
    Names
    1-phosphatidyl-D-myo-inositol-4,5-bisphosphate
    PLC-beta-4
    dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))
    inositoltrisphosphohydrolase
    monophosphatidylinositol phosphodiesterase
    phosphoinositidase C
    phosphoinositide phospholipase C-beta-4
    triphosphoinositide phosphodiesterase
    NP_000924.3
    NP_001166117.1
    NP_001364063.1
    NP_001364064.1
    NP_001364065.1
    NP_001364071.1
    NP_001364072.1
    NP_877949.2
    XP_005260781.1
    XP_006723632.1
    XP_011527556.1
    XP_016883373.1
    XP_024307666.1
    XP_024307668.1
    XP_047296157.1
    XP_047296158.1
    XP_047296159.1
    XP_047296160.1
    XP_047296161.1
    XP_047296162.1
    XP_054179488.1
    XP_054179489.1
    XP_054179490.1
    XP_054179491.1
    XP_054179492.1
    XP_054179493.1
    XP_054179494.1
    XP_054179495.1
    XP_054179496.1
    XP_054179497.1
    XP_054179498.1
    XP_054179499.1

    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.

    Genomic

    1. NG_032790.2 RefSeqGene

      Range
      5034..416755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000933.4 → NP_000924.3  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a

      See identical proteins and their annotated locations for NP_000924.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the central coding region and includes an alternate exon in the 3' coding region that results in a frameshift, compared to variant 3. The complete exon combination of the 5' UTR for this variant has not been determined. The resulting isoform (a) lacks an internal segment and has a longer and distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AL023805, AL031652, AL121898, AL121909
      Consensus CDS
      CCDS13104.1
      UniProtKB/TrEMBL
      A0A8I5KXD7
      Related
      ENSP00000508600.1, ENST00000686976.1
      Conserved Domains (6) summary
      PTZ00121
      Location:847 → 1194
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:702 → 818
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 668
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:914 → 955
      DUF1154; Protein of unknown function (DUF1154)

    2. NM_001172646.2 → NP_001166117.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes isoform c.
      Source sequence(s)
      AK307837, AL117633, BC143868, DB270238, DN913865
      Consensus CDS
      CCDS54447.1
      UniProtKB/TrEMBL
      A0A8I5KQZ0
      Related
      ENSP00000508676.1, ENST00000685823.1
      Conserved Domains (6) summary
      cd00275
      Location:714 → 830
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 680
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      pfam06631
      Location:926 → 967
      DUF1154; Protein of unknown function (DUF1154)
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      cl26511
      Location:851 → 1182
      Neuromodulin_N; Gap junction protein N-terminal region

    3. NM_001377134.2 → NP_001364063.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL023805, AL031652, AL121898, AL121909
      Consensus CDS
      CCDS13104.1
      UniProtKB/TrEMBL
      A0A8I5KXD7
      Related
      ENSP00000510118.1, ENST00000686871.1
      Conserved Domains (6) summary
      PTZ00121
      Location:847 → 1194
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:702 → 818
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 668
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:914 → 955
      DUF1154; Protein of unknown function (DUF1154)

    4. NM_001377135.1 → NP_001364064.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL023805, AL031652, AL121898, AL121909
      Consensus CDS
      CCDS13104.1
      UniProtKB/TrEMBL
      A0A8I5KXD7
      Related
      ENSP00000508595.1, ENST00000686313.1
      Conserved Domains (6) summary
      PTZ00121
      Location:847 → 1194
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:702 → 818
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 668
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:914 → 955
      DUF1154; Protein of unknown function (DUF1154)

    5. NM_001377136.1 → NP_001364065.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL023805, AL031652, AL121898, AL121909
      Consensus CDS
      CCDS13105.1
      UniProtKB/Swiss-Prot
      B7ZLK6, E2QRH8, Q15147, Q17R56, Q5JYS8, Q5JYS9, Q5JYT0, Q5JYT3, Q5JYT4, Q9BQW5, Q9BQW6, Q9BQW8, Q9UJQ2
      UniProtKB/TrEMBL
      A0A8I5KQZ0
      Related
      ENSP00000510302.1, ENST00000685859.1
      Conserved Domains (6) summary
      PTZ00121
      Location:839 → 1170
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:702 → 818
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 668
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:914 → 955
      DUF1154; Protein of unknown function (DUF1154)

    6. NM_001377142.1 → NP_001364071.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL023805, AL031652, AL121898, AL121909
      Consensus CDS
      CCDS93005.1
      UniProtKB/TrEMBL
      A0A7P0MRI8, A0A8I5KS50
      Related
      ENSP00000367734.5, ENST00000378473.9
      Conserved Domains (6) summary
      PTZ00121
      Location:859 → 1206
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:714 → 830
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 680
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:926 → 967
      DUF1154; Protein of unknown function (DUF1154)

    7. NM_001377143.1 → NP_001364072.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL023805, AL031652, AL121898, AL121909
      Consensus CDS
      CCDS93005.1
      UniProtKB/TrEMBL
      A0A7P0MRI8, A0A8I5KS50
      Related
      ENSP00000508726.1, ENST00000685568.1
      Conserved Domains (6) summary
      PTZ00121
      Location:859 → 1206
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:714 → 830
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 680
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:926 → 967
      DUF1154; Protein of unknown function (DUF1154)

    8. NM_182797.3 → NP_877949.2  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform b

      See identical proteins and their annotated locations for NP_877949.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 3. The complete exon combination of the 5' UTR for this variant has not been determined. The resulting isoform (b) lacks an internal segment, compared to isoform c.
      Source sequence(s)
      AL023805, AL031652, AL121898, AL121909
      Consensus CDS
      CCDS13105.1
      UniProtKB/Swiss-Prot
      B7ZLK6, E2QRH8, Q15147, Q17R56, Q5JYS8, Q5JYS9, Q5JYT0, Q5JYT3, Q5JYT4, Q9BQW5, Q9BQW6, Q9BQW8, Q9UJQ2
      UniProtKB/TrEMBL
      A0A8I5KQZ0
      Related
      ENSP00000508650.1, ENST00000689910.1
      Conserved Domains (6) summary
      PTZ00121
      Location:839 → 1170
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:702 → 818
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 668
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:914 → 955
      DUF1154; Protein of unknown function (DUF1154)

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      9068678..9480808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451898.2 → XP_024307666.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A7P0MRI8, A0A8I5KS50
      Conserved Domains (6) summary
      PTZ00121
      Location:859 → 1206
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:714 → 830
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 680
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:926 → 967
      DUF1154; Protein of unknown function (DUF1154)

    2. XM_005260724.3 → XP_005260781.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      See identical proteins and their annotated locations for XP_005260781.1

      UniProtKB/TrEMBL
      A0A7P0MRI8, A0A8I5KS50
      Conserved Domains (6) summary
      PTZ00121
      Location:859 → 1206
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:714 → 830
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 680
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:926 → 967
      DUF1154; Protein of unknown function (DUF1154)

    3. XM_006723569.3 → XP_006723632.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      See identical proteins and their annotated locations for XP_006723632.1

      UniProtKB/TrEMBL
      A0A7P0MRI8, A0A8I5KS50
      Conserved Domains (6) summary
      PTZ00121
      Location:859 → 1206
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:714 → 830
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 680
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:926 → 967
      DUF1154; Protein of unknown function (DUF1154)

    4. XM_024451900.2 → XP_024307668.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A7P0MRI8, A0A8I5KS50
      Conserved Domains (6) summary
      PTZ00121
      Location:859 → 1206
      PTZ00121; MAEBL; Provisional
      cd00275
      Location:714 → 830
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:312 → 680
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      cd13361
      Location:17 → 143
      PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
      cd16211
      Location:148 → 300
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      pfam06631
      Location:926 → 967
      DUF1154; Protein of unknown function (DUF1154)

    5. XM_047440201.1 → XP_047296157.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A7P0MRI8, A0A8I5KS50

    6. XM_047440202.1 → XP_047296158.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X2

      UniProtKB/TrEMBL
      A0A8I5KXD7
      Related
      ENSP00000509212.1, ENST00000492632.5

    7. XM_047440203.1 → XP_047296159.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A7P0MRI8, A0A8I5KS50

    8. XM_047440204.1 → XP_047296160.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KW09
      Related
      ENSP00000508624.1, ENST00000690729.1

    9. XM_017027884.2 → XP_016883373.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KW09
      Conserved Domains (6) summary
      cd00275
      Location:601 → 717
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:199 → 567
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      pfam06631
      Location:813 → 854
      DUF1154; Protein of unknown function (DUF1154)
      cd16211
      Location:35 → 187
      EFh_PI-PLCbeta4; EF-hand motif found in phosphoinositide phospholipase C beta 4 (PI-PLC-beta4)
      cl17171
      Location:1 → 30
      PH-like; Pleckstrin homology-like domain
      cl26511
      Location:746 → 1093
      Neuromodulin_N; Gap junction protein N-terminal region

    10. XM_011529254.3 → XP_011527556.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X4

      UniProtKB/TrEMBL
      A0A8I5KW09
      Conserved Domains (6) summary
      cd00275
      Location:554 → 670
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08591
      Location:152 → 520
      PI-PLCc_beta; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta
      PLN02228
      Location:58 → 659
      PLN02228; Phosphoinositide phospholipase C
      pfam06631
      Location:766 → 806
      DUF1154; Protein of unknown function (DUF1154)
      pfam09279
      Location:61 → 152
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      pfam09728
      Location:781 → 1018
      Taxilin; Myosin-like coiled-coil protein

    11. XM_047440205.1 → XP_047296161.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X5

      UniProtKB/TrEMBL
      A0A8I5KW09
      Related
      ENST00000482123.1

    12. XM_047440206.1 → XP_047296162.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      9111633..9523716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323515.1 → XP_054179490.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KS50

    2. XM_054323517.1 → XP_054179492.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KS50

    3. XM_054323516.1 → XP_054179491.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KS50

    4. XM_054323518.1 → XP_054179493.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KS50

    5. XM_054323513.1 → XP_054179488.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KS50

    6. XM_054323514.1 → XP_054179489.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X2

      UniProtKB/TrEMBL
      A0A8I5KXD7

    7. XM_054323519.1 → XP_054179494.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KS50

    8. XM_054323521.1 → XP_054179496.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KW09

    9. XM_054323520.1 → XP_054179495.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X3

      UniProtKB/TrEMBL
      A0A8I5KW09

    10. XM_054323522.1 → XP_054179497.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X4

      UniProtKB/TrEMBL
      A0A8I5KW09

    11. XM_054323523.1 → XP_054179498.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X5

      UniProtKB/TrEMBL
      A0A8I5KW09

    12. XM_054323524.1 → XP_054179499.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15147.3 GenPept UniProtKB/Swiss-Prot:Q15147

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