• Gene id: 90102

Gene Summary

• Gene Symbol: PHLDB2   Gene   UCSC   Ensembl
• Aliases: LL5b, LL5beta
• Gene name: pleckstrin homology like domain family B member 2
• Alternate names: pleckstrin homology-like domain family B member 2, LL5 beta, protein LL5-beta,
• Gene location: 3q13.2 (111732495: 111976516)     Exons: 1     NC_000003.12
• OMIM: 610298

Protein Summary

• Protein general information: Q86SQ0  
  • Name: Pleckstrin homology like domain family B member 2 (Protein LL5 beta)
  • Length: 1253  
  • Mass: 142158
• Sequence:

  MEEHSYIQKELDLQNGSLEEDSVVHSVENDSQNMMESLSPKKYSSSLRFKANGDYSGSYLTLSQPVPAKRSPSPL
  GTSVRSSPSLAKIQGSKQFSYDGTDKNIPMKPPTPLLNTTSSLSGYPLGRADFDHYTGRDSERALRLSEKPPYSK
  YSSRHKSHDNVYSLGGLEGRKASGSLLAMWNGSSLSDAGPPPISRSGAASMPSSPKQARKMSIQDSLALQPKLTR
  HKELASENINLRTRKYSSSSLSHMGAYSRSLPRLYRATENQLTPLSLPPRNSLGNSKRTKLGEKDLPHSVIDNDN
  YLNFSSLSSGALPYKTSASEGNPYVSSTLSVPASPRVARKMLLASTSSCASDDFDQASYVGTNPSHSLLAGESDR
  VFATRRNFSCGSVEFDEADLESLRQASGTPQPALRERKSSISSISGRDDLMDYHRRQREERLREQEMERLERQRL
  ETILSLCAEYTKPDSRLSTGTTVEDVQKINKELEKLQLSDEESVFEEALMSPDTRYRCHRKDSLPDADLASCGSL
  SQSSASFFTPRSTRNDELLSDLTRTPPPPSSTFPKASSESSYLSILPKTPEGISEEQRSQELAAMEETRIVILNN
  LEELKQKIKDINDQMDESFRELDMECALLDGEQKSETTELMKEKEILDHLNRKIAELEKNIVGEKTKEKVKLDAE
  REKLERLQELYSEQKTQLDNCPESMREQLQQQLKRDADLLDVESKHFEDLEFQQLEHESRLDEEKENLTQQLLRE
  VAEYQRNIVSRKEKISALKKQANHIVQQAQREQDHFVKEKNNLIMMLQREKENLCNLEKKYSSLSGGKGFPVNPN
  TLKEGYISVNEINEPCGNSTNLSPSTQFPADADAVATEPATAVLASQPQSKEHFRSLEERKKQHKEGLYLSDTLP
  RKKTTSSISPHFSSATMGRSITPKAHLPLGQSNSCGSVLPPSLAAMAKDSESRRMLRGYNHQQMSEGHRQKSEFY
  NRTASESNVYLNSFHYPDHSYKDQAFDTLSLDSSDSMETSISACSPDNISSASTSNIARIEEMERLLKQAHAEKT
  RLLESREREMEAKKRALEEEKRRREILEKRLQEETSQRQKLIEKEVKIRERQRAQARPLTRYLPVRKEDFDLRSH
  VETAGHNIDTCYHVSITEKTCRGFLIKMGGKIKTWKKRWFVFDRNKRTFSYYADKHETKLKGVIYFQAIEEVYYD
  HLKNANKSPNPLLTFSVKTHDRIYYMVAPSPEAMRIWMDVIVTGAEGYTHFLL

• Structural information:
  • Protein Domains: (1143..124-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  IPR037810  
  • Prosite: PS50003
  • CDD: cd14673
  • DIP: 42196
  • STRING: ENSP00000405405
• Other Databases: GeneCards:  PHLDB2  Malacards:  PHLDB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045180	basal cortex	IBA	cellular component
GO:0070507	regulation of microtubule cytoskeleton organization	IBA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045180	basal cortex	IDA	cellular component
GO:0005925	focal adhesion	IDA	colocalizes with
GO:0031252	cell leading edge	IDA	cellular component
GO:0070507	regulation of microtubule cytoskeleton organization	IGI	biological process
GO:0010717	regulation of epithelial to mesenchymal transition	IMP	biological process
GO:1904261	positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IMP	biological process
GO:1904261	positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IGI	biological process
GO:1904261	positive regulation of basement membrane assembly involved in embryonic body morphogenesis	IGI	biological process
GO:0010470	regulation of gastrulation	IMP	biological process
GO:0051895	negative regulation of focal adhesion assembly	IMP	biological process
GO:1903690	negative regulation of wound healing, spreading of epidermal cells	IMP	biological process
GO:0051497	negative regulation of stress fiber assembly	IMP	biological process
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0045184	establishment of protein localization	IMP	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)