Human Gene PHLDB2 (ENST00000431670.7_8) from GENCODE V47lift37
  Description: pleckstrin homology like domain family B member 2, transcript variant 1 (from RefSeq NM_001134438.2)
Gencode Transcript: ENST00000431670.7_8
Gencode Gene: ENSG00000144824.21_18
Transcript (Including UTRs)
   Position: hg19 chr3:111,578,112-111,695,364 Size: 117,253 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr3:111,602,925-111,693,410 Size: 90,486 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:111,578,112-111,695,364)mRNA (may differ from genome)Protein (1253 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PHLB2_HUMAN
DESCRIPTION: RecName: Full=Pleckstrin homology-like domain family B member 2; AltName: Full=Protein LL5-beta;
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).
SUBUNIT: Interacts with FLNC.
SUBCELLULAR LOCATION: 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.
DOMAIN: The PH domain mediates the binding to phosphoinositides.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=AAH69194.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD93140.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PHLDB2
Diseases sorted by gene-association score: vascular dementia (6), tukel syndrome (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.76 RPKM in Artery - Tibial
Total median expression: 236.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -141.80326-0.435 Picture PostScript Text
3' UTR -433.201954-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain

SCOP Domains:
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q86SQ0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0045296 cadherin binding

Biological Process:
GO:0000226 microtubule cytoskeleton organization
GO:0010470 regulation of gastrulation
GO:0010717 regulation of epithelial to mesenchymal transition
GO:0045184 establishment of protein localization
GO:0051497 negative regulation of stress fiber assembly
GO:0051895 negative regulation of focal adhesion assembly
GO:0070507 regulation of microtubule cytoskeleton organization
GO:1903690 negative regulation of wound healing, spreading of epidermal cells
GO:1904261 positive regulation of basement membrane assembly involved in embryonic body morphogenesis

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031252 cell leading edge
GO:0045111 intermediate filament cytoskeleton
GO:0045180 basal cortex
GO:0005925 focal adhesion


-  Descriptions from all associated GenBank mRNAs
  AK296841 - Homo sapiens cDNA FLJ60406 partial cds, highly similar to Pleckstrin homology-like domain family B member 2.
CR749654 - Homo sapiens mRNA; cDNA DKFZp686J05113 (from clone DKFZp686J05113).
AK307491 - Homo sapiens cDNA, FLJ97439.
AK315050 - Homo sapiens cDNA, FLJ95999.
BC069194 - Homo sapiens pleckstrin homology-like domain, family B, member 2, mRNA (cDNA clone IMAGE:6370877), partial cds.
AB209903 - Homo sapiens mRNA for LL5 beta protein variant protein.
AF506820 - Homo sapiens hypothetical protein mRNA, complete cds.
BC142678 - Homo sapiens pleckstrin homology-like domain, family B, member 2, mRNA (cDNA clone MGC:164953 IMAGE:40148225), complete cds.
BC150210 - Homo sapiens pleckstrin homology-like domain, family B, member 2, mRNA (cDNA clone MGC:165090 IMAGE:40148898), complete cds.
AJ496194 - Homo sapiens mRNA for LL5 beta protein.
AB385134 - Synthetic construct DNA, clone: pF1KB5625, Homo sapiens PHLDB2 gene for pleckstrin homology-like domain family B member 2, complete cds, without stop codon, in Flexi system.
AK125555 - Homo sapiens cDNA FLJ43567 fis, clone PUAEN2007785.
AL833135 - Homo sapiens mRNA; cDNA DKFZp313N0632 (from clone DKFZp313N0632).
AK096151 - Homo sapiens cDNA FLJ38832 fis, clone MESAN2000457.
BC038806 - Homo sapiens pleckstrin homology-like domain, family B, member 2, mRNA (cDNA clone IMAGE:5169755), complete cds.
AL832205 - Homo sapiens mRNA; cDNA DKFZp686J162 (from clone DKFZp686J162).
AL832476 - Homo sapiens mRNA; cDNA DKFZp686P22161 (from clone DKFZp686P22161).
AK092996 - Homo sapiens cDNA FLJ35677 fis, clone SPLEN2018749.
AX747845 - Sequence 1370 from Patent EP1308459.
JD556874 - Sequence 537898 from Patent EP1572962.
BC022383 - Homo sapiens pleckstrin homology-like domain, family B, member 2, mRNA (cDNA clone IMAGE:4251113), partial cds.
BX647615 - Homo sapiens mRNA; cDNA DKFZp313O2433 (from clone DKFZp313O2433).
AK074626 - Homo sapiens cDNA FLJ90145 fis, clone HEMBB1001573.
BC031000 - Homo sapiens pleckstrin homology-like domain, family B, member 2, mRNA (cDNA clone IMAGE:4769955), partial cds.
AK025444 - Homo sapiens cDNA: FLJ21791 fis, clone HEP00433.
AL137663 - Homo sapiens mRNA; cDNA DKFZp434G227 (from clone DKFZp434G227).
JD332679 - Sequence 313703 from Patent EP1572962.
JD520087 - Sequence 501111 from Patent EP1572962.
JD058546 - Sequence 39570 from Patent EP1572962.
JD327476 - Sequence 308500 from Patent EP1572962.
JD348026 - Sequence 329050 from Patent EP1572962.
JD566371 - Sequence 547395 from Patent EP1572962.
JD338493 - Sequence 319517 from Patent EP1572962.
JD094410 - Sequence 75434 from Patent EP1572962.
JD048981 - Sequence 30005 from Patent EP1572962.
JD387911 - Sequence 368935 from Patent EP1572962.
JD039894 - Sequence 20918 from Patent EP1572962.
JD488721 - Sequence 469745 from Patent EP1572962.
JD244859 - Sequence 225883 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A5PKZ3, ENST00000431670.1, ENST00000431670.2, ENST00000431670.3, ENST00000431670.4, ENST00000431670.5, ENST00000431670.6, LL5B, NM_001134438, PHLB2_HUMAN, Q59EA8, Q68CY3, Q6NT98, Q86SQ0, Q8N8U8, Q8NAB1, Q8NCU5, uc320aka.1, uc320aka.2
UCSC ID: ENST00000431670.7_8
RefSeq Accession: NM_001134438.2
Protein: Q86SQ0 (aka PHLB2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.