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Aliases for PHLDB2 Gene

Aliases for PHLDB2 Gene

  • Pleckstrin Homology Like Domain Family B Member 2 2 3 5
  • Protein LL5-Beta 3 4
  • Pleckstrin Homology-Like Domain, Family B, Member 2 2
  • Pleckstrin Homology-Like Domain Family B Member 2 3
  • LL5 Beta 3
  • LL5beta 3
  • LL5b 3
  • LL5B 4

External Ids for PHLDB2 Gene

Previous GeneCards Identifiers for PHLDB2 Gene

  • GC03P112923
  • GC03P113061
  • GC03P113085
  • GC03P111451
  • GC03P108826

Summaries for PHLDB2 Gene

GeneCards Summary for PHLDB2 Gene

PHLDB2 (Pleckstrin Homology Like Domain Family B Member 2) is a Protein Coding gene. Diseases associated with PHLDB2 include Tukel Syndrome. An important paralog of this gene is PHLDB1.

UniProtKB/Swiss-Prot for PHLDB2 Gene

  • Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity).

Gene Wiki entry for PHLDB2 Gene

Additional gene information for PHLDB2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHLDB2 Gene

Genomics for PHLDB2 Gene

GeneHancer (GH) Regulatory Elements for PHLDB2 Gene

Promoters and enhancers for PHLDB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J111858 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 654.8 +130.1 130130 8.6 SIN3A FEZF1 ZNF2 BRCA1 ZNF48 YY1 GLIS2 ATF7 RUNX3 SP3 PHLDB2 LOC105374040 ABHD10 PLCXD2 TAGLN3 PLCXD2-AS1 SLC9C1 GC03P111896
GH03J111731 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.4 +4.1 4055 9.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 FOS PLCXD2 PHLDB2 BTLA C3orf52 LOC105374040
GH03J111799 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7.6 +69.8 69840 4.7 PKNOX1 SIN3A MZF1 BRCA1 RAD21 RFX5 YY1 EGR1 RCOR1 RXRA PLCXD2 PHLDB2 LOC105374040
GH03J111759 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.9 +30.1 30129 5.7 ELF3 RAD21 RARA ETS1 YY1 EGR1 ATF7 FOS CREM IKZF2 PLCXD2 PHLDB2 LOC105374040
GH03J111931 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 5.4 +202.3 202287 7.2 FOXA2 JUN MZF1 FEZF1 HIC1 ZNF664 POLR2A FOSL2 FOS TCF7L2 ABHD10 PLCXD2 PLCXD2-AS1 SLC35A5 PHLDB2 GC03P111896
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHLDB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHLDB2 gene promoter:
  • POU2F1a
  • POU2F1
  • Sp1
  • p53
  • E47

Genomic Locations for PHLDB2 Gene

Genomic Locations for PHLDB2 Gene
chr3:111,732,480-111,976,517
(GRCh38/hg38)
Size:
244,038 bases
Orientation:
Plus strand
chr3:111,451,327-111,695,364
(GRCh37/hg19)
Size:
244,038 bases
Orientation:
Plus strand

Genomic View for PHLDB2 Gene

Genes around PHLDB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHLDB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHLDB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHLDB2 Gene

Proteins for PHLDB2 Gene

  • Protein details for PHLDB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SQ0-PHLB2_HUMAN
    Recommended name:
    Pleckstrin homology-like domain family B member 2
    Protein Accession:
    Q86SQ0
    Secondary Accessions:
    • A5PKZ3
    • Q59EA8
    • Q68CY3
    • Q6NT98
    • Q8N8U8
    • Q8NAB1
    • Q8NCU5

    Protein attributes for PHLDB2 Gene

    Size:
    1253 amino acids
    Molecular mass:
    142158 Da
    Quaternary structure:
    • Interacts with FLNC.
    SequenceCaution:
    • Sequence=AAH69194.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD93140.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PHLDB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHLDB2 Gene

Post-translational modifications for PHLDB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHLDB2 Gene

Domains & Families for PHLDB2 Gene

Gene Families for PHLDB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PHLDB2 Gene

Suggested Antigen Peptide Sequences for PHLDB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q86SQ0

UniProtKB/Swiss-Prot:

PHLB2_HUMAN :
  • The PH domain mediates the binding to phosphoinositides.
Domain:
  • The PH domain mediates the binding to phosphoinositides.
genes like me logo Genes that share domains with PHLDB2: view

Function for PHLDB2 Gene

Molecular function for PHLDB2 Gene

UniProtKB/Swiss-Prot Function:
Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity).

Phenotypes From GWAS Catalog for PHLDB2 Gene

Gene Ontology (GO) - Molecular Function for PHLDB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20236936
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with PHLDB2: view
genes like me logo Genes that share phenotypes with PHLDB2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHLDB2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHLDB2 Gene

Localization for PHLDB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHLDB2 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=Translocates to the plasma membrane at high levels of PtdIns(3,4,5)P3. At low levels of PtdIns(3,4,5)P3 is translocated to vesicular compartments.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHLDB2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PHLDB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0005925 colocalizes_with focal adhesion IDA 24859005
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PHLDB2: view

Pathways & Interactions for PHLDB2 Gene

SuperPathways for PHLDB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHLDB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 24859005
GO:0010470 regulation of gastrulation IMP 23940118
GO:0010717 regulation of epithelial to mesenchymal transition IMP 23940118
GO:0045184 establishment of protein localization IMP 24859005
GO:0051497 negative regulation of stress fiber assembly IMP 24859005
genes like me logo Genes that share ontologies with PHLDB2: view

No data available for Pathways by source and SIGNOR curated interactions for PHLDB2 Gene

Drugs & Compounds for PHLDB2 Gene

No Compound Related Data Available

Transcripts for PHLDB2 Gene

mRNA/cDNA for PHLDB2 Gene

Unigene Clusters for PHLDB2 Gene

Pleckstrin homology-like domain, family B, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHLDB2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHLDB2 Gene

No ASD Table

Relevant External Links for PHLDB2 Gene

GeneLoc Exon Structure for
PHLDB2
ECgene alternative splicing isoforms for
PHLDB2

Expression for PHLDB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHLDB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PHLDB2 Gene

This gene is overexpressed in Synovial fluid (23.5) and Placenta (18.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PHLDB2 Gene



NURSA nuclear receptor signaling pathways regulating expression of PHLDB2 Gene:

PHLDB2

SOURCE GeneReport for Unigene cluster for PHLDB2 Gene:

Hs.603252

Evidence on tissue expression from TISSUES for PHLDB2 Gene

  • Liver(4.4)
  • Lung(4.2)
  • Spleen(4.2)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with PHLDB2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHLDB2 Gene

Orthologs for PHLDB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHLDB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHLDB2 34 33
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PHLDB2 34 33
  • 89.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Phldb2 16 34 33
  • 85.76 (n)
rat
(Rattus norvegicus)
Mammalia Phldb2 33
  • 82.93 (n)
dog
(Canis familiaris)
Mammalia PHLDB2 34 33
  • 82.26 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHLDB2 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHLDB2 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHLDB2 34 33
  • 73.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHLDB2 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC570807 33
  • 58.18 (n)
PHLDB2 (2 of 2) 34
  • 44 (a)
OneToMany
PHLDB2 (1 of 2) 34
  • 43 (a)
OneToMany
wufc31d06 33
fruit fly
(Drosophila melanogaster)
Insecta CG5004 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5769 34
  • 34 (a)
OneToMany
Species where no ortholog for PHLDB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHLDB2 Gene

ENSEMBL:
Gene Tree for PHLDB2 (if available)
TreeFam:
Gene Tree for PHLDB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHLDB2: view image

Paralogs for PHLDB2 Gene

Paralogs for PHLDB2 Gene

(7) SIMAP similar genes for PHLDB2 Gene using alignment to 7 proteins:

  • PHLB2_HUMAN
  • E9PDY7_HUMAN
  • E9PFQ4_HUMAN
  • E9PGF6_HUMAN
  • G5E9V3_HUMAN
  • Q8IXY4_HUMAN
  • Q8NEI7_HUMAN
genes like me logo Genes that share paralogs with PHLDB2: view

Variants for PHLDB2 Gene

Sequence variations from dbSNP and Humsavar for PHLDB2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000004124 -- 111,856,283(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000017609 -- 111,915,217(+) T/C intron_variant
rs1000021267 -- 111,900,734(+) G/T intron_variant
rs1000026746 -- 111,840,439(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000027355 -- 111,810,073(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PHLDB2 Gene

Variant ID Type Subtype PubMed ID
esv1055295 CNV deletion 17803354
esv1320651 CNV insertion 17803354
esv2635192 CNV insertion 19546169
esv2668352 CNV deletion 23128226
esv2725775 CNV deletion 23290073
esv2725776 CNV deletion 23290073
esv2725777 CNV deletion 23290073
esv3330838 CNV insertion 20981092
esv3597399 CNV loss 21293372
nsv1074616 CNV deletion 25765185
nsv1127986 CNV deletion 24896259
nsv1129236 CNV insertion 24896259
nsv1132924 CNV insertion 24896259
nsv1140345 OTHER inversion 24896259
nsv1150720 CNV deletion 26484159
nsv3947 CNV insertion 18451855
nsv460821 CNV gain 19166990
nsv591275 CNV gain 21841781
nsv591290 CNV gain 21841781
nsv829676 CNV gain 17160897

Variation tolerance for PHLDB2 Gene

Residual Variation Intolerance Score: 15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.16; 80.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHLDB2 Gene

Human Gene Mutation Database (HGMD)
PHLDB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHLDB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHLDB2 Gene

Disorders for PHLDB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PHLDB2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
tukel syndrome
  • fibrosis of extraocular muscles, congenital, with ulnar hand anomalies
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PHLDB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PHLDB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHLDB2 Gene

Publications for PHLDB2 Gene

  1. LL5beta is a phosphatidylinositol (3,4,5)-trisphosphate sensor that can bind the cytoskeletal adaptor, gamma-filamin. (PMID: 12376540) Paranavitane V … Stephens L (The Journal of biological chemistry 2003) 2 3 4 58
  2. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for PHLDB2 Gene

Sources for PHLDB2 Gene

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