This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gen... See more...

Aliases for PPFIBP2 Gene

Aliases for PPFIBP2 Gene

  • PPFIA Binding Protein 2 2 3 5
  • Protein Tyrosine Phosphatase Receptor Type F Polypeptide-Interacting Protein-Binding Protein 2 3 4
  • PTPRF Interacting Protein, Binding Protein 2 (Liprin Beta 2) 2 3
  • Liprin Beta 2 2 3
  • Liprin-Beta-2 3 4
  • Cclp1 2 3
  • PTPRF-Interacting Protein-Binding Protein 2 4
  • PPFIBP2 5

External Ids for PPFIBP2 Gene

Previous GeneCards Identifiers for PPFIBP2 Gene

  • GC11P008370
  • GC11P007995
  • GC11P007494
  • GC11P007499
  • GC11P007193

Summaries for PPFIBP2 Gene

Entrez Gene Summary for PPFIBP2 Gene

  • This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for PPFIBP2 Gene

PPFIBP2 (PPFIA Binding Protein 2) is a Protein Coding gene. Diseases associated with PPFIBP2 include Bile Duct Cancer and Brachydactyly, Type E1. Among its related pathways are Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include integrase activity. An important paralog of this gene is PPFIBP1.

UniProtKB/Swiss-Prot Summary for PPFIBP2 Gene

  • May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPFIBP2 Gene

Genomics for PPFIBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPFIBP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPFIBP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPFIBP2

Top Transcription factor binding sites by QIAGEN in the PPFIBP2 gene promoter:
  • ER-alpha
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • Sp1
  • STAT5A

Genomic Locations for PPFIBP2 Gene

Genomic Locations for PPFIBP2 Gene
chr11:7,513,298-7,666,642
(GRCh38/hg38)
Size:
153,345 bases
Orientation:
Plus strand
chr11:7,534,529-7,678,358
(GRCh37/hg19)
Size:
143,830 bases
Orientation:
Plus strand

Genomic View for PPFIBP2 Gene

Genes around PPFIBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPFIBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPFIBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPFIBP2 Gene

Proteins for PPFIBP2 Gene

  • Protein details for PPFIBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8ND30-LIPB2_HUMAN
    Recommended name:
    Liprin-beta-2
    Protein Accession:
    Q8ND30
    Secondary Accessions:
    • B7Z433
    • E9PK77
    • O75337
    • Q8WW26

    Protein attributes for PPFIBP2 Gene

    Size:
    876 amino acids
    Molecular mass:
    98544 Da
    Quaternary structure:
    • Forms homodimers and heterodimers (PubMed:21462929).

    Three dimensional structures from OCA and Proteopedia for PPFIBP2 Gene

    Alternative splice isoforms for PPFIBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPFIBP2 Gene

Post-translational modifications for PPFIBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPFIBP2 Gene

Domains & Families for PPFIBP2 Gene

Gene Families for PPFIBP2 Gene

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

Protein Domains for PPFIBP2 Gene

InterPro:
Blocks:
  • Sterile alpha motif SAM
  • Sterile alpha motif homology 2
  • Tn916 integrase, N-terminal DNA binding
ProtoNet:

Suggested Antigen Peptide Sequences for PPFIBP2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ10269 fis, clone HEMBB1001068, highly similar to Liprin-beta-2 (B3KM46_HUMAN)
  • cDNA FLJ59478, highly similar to Liprin-beta-2 (B7Z1M7_HUMAN)
  • Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2 (LIPB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8ND30

UniProtKB/Swiss-Prot:

LIPB2_HUMAN :
  • The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha (By similarity).
  • Belongs to the liprin family. Liprin-beta subfamily.
Domain:
  • The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha (By similarity).
Family:
  • Belongs to the liprin family. Liprin-beta subfamily.
genes like me logo Genes that share domains with PPFIBP2: view

Function for PPFIBP2 Gene

Molecular function for PPFIBP2 Gene

UniProtKB/Swiss-Prot Function:
May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.

Phenotypes From GWAS Catalog for PPFIBP2 Gene

Gene Ontology (GO) - Molecular Function for PPFIBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 19447967
GO:0042802 identical protein binding IDA 21462929
genes like me logo Genes that share ontologies with PPFIBP2: view
genes like me logo Genes that share phenotypes with PPFIBP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPFIBP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PPFIBP2 Gene

Localization for PPFIBP2 Gene

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 PPFIBP2 gene
Compartment Confidence
extracellular 4
cytosol 4
nucleus 3
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPFIBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005829 cytosol TAS --
GO:0048786 presynaptic active zone IBA 21873635
GO:0098793 presynapse IEA --
genes like me logo Genes that share ontologies with PPFIBP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPFIBP2 Gene

Pathways & Interactions for PPFIBP2 Gene

PathCards logo

SuperPathways for PPFIBP2 Gene

SuperPathway Contained pathways
1 Ectoderm Differentiation
genes like me logo Genes that share pathways with PPFIBP2: view

Pathways by source for PPFIBP2 Gene

1 BioSystems pathway for PPFIBP2 Gene

Gene Ontology (GO) - Biological Process for PPFIBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007528 neuromuscular junction development IBA 21873635
GO:0050808 synapse organization IBA 21873635
genes like me logo Genes that share ontologies with PPFIBP2: view

No data available for SIGNOR curated interactions for PPFIBP2 Gene

Drugs & Compounds for PPFIBP2 Gene

No Compound Related Data Available

Transcripts for PPFIBP2 Gene

mRNA/cDNA for PPFIBP2 Gene

13 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPFIBP2

Alternative Splicing Database (ASD) splice patterns (SP) for PPFIBP2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^
SP1: -
SP2: - - - - - -
SP3: - - -
SP4:
SP5: - -
SP6:
SP7: - - - - -
SP8: -
SP9: - - -
SP10:
SP11:
SP12:

ExUns: 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PPFIBP2 Gene

GeneLoc Exon Structure for
PPFIBP2

Expression for PPFIBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPFIBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPFIBP2 Gene

This gene is overexpressed in Liver (11.3) and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPFIBP2 Gene



Protein tissue co-expression partners for PPFIBP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPFIBP2

SOURCE GeneReport for Unigene cluster for PPFIBP2 Gene:

Hs.655714

mRNA Expression by UniProt/SwissProt for PPFIBP2 Gene:

Q8ND30-LIPB2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for PPFIBP2 Gene

  • Liver(4.5)
  • Lymph node(4.4)
  • Nervous system(3.7)
  • Gall bladder(2.5)
  • Intestine(2.4)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with PPFIBP2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPFIBP2 Gene

Orthologs for PPFIBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PPFIBP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPFIBP2 30 31
  • 99.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppfibp2 30
  • 87.85 (n)
Mouse
(Mus musculus)
Mammalia Ppfibp2 30 17 31
  • 87.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPFIBP2 30 31
  • 87.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPFIBP2 31
  • 87 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPFIBP2 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPFIBP2 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPFIBP2 30 31
  • 70.47 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPFIBP2 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppfibp2 30
  • 64.07 (n)
Str.14980 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25327 30
Zebrafish
(Danio rerio)
Actinopterygii ppfibp2a 30 31
  • 61.75 (n)
OneToMany
ppfibp2b 31
  • 53 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG11206 32
  • 45 (a)
CG10743 32
  • 38 (a)
Liprin-beta 31
  • 35 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T21H8.1 32
  • 35 (a)
hlb-1 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Species where no ortholog for PPFIBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for PPFIBP2 Gene

ENSEMBL:
Gene Tree for PPFIBP2 (if available)
TreeFam:
Gene Tree for PPFIBP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPFIBP2: view image

Paralogs for PPFIBP2 Gene

Paralogs for PPFIBP2 Gene

(4) SIMAP similar genes for PPFIBP2 Gene using alignment to 11 proteins:

  • LIPB2_HUMAN
  • E9PI79_HUMAN
  • E9PIK8_HUMAN
  • E9PJA0_HUMAN
  • E9PK17_HUMAN
  • E9PMH3_HUMAN
  • E9PMN3_HUMAN
  • E9PP16_HUMAN
  • H0YDJ2_HUMAN
  • H0YDM0_HUMAN
  • H0YET1_HUMAN

Pseudogenes.org Pseudogenes for PPFIBP2 Gene

genes like me logo Genes that share paralogs with PPFIBP2: view

Variants for PPFIBP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPFIBP2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
715488 Benign: not provided 7,649,660(+) A/G INTRON_VARIANT
722959 Likely Benign: not provided 7,651,711(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
785339 Benign: not provided 7,628,300(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs4758209 - p.Arg658Gly

Additional dbSNP identifiers (rs#s) for PPFIBP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PPFIBP2 Gene

Variant ID Type Subtype PubMed ID
dgv1057n100 CNV gain 25217958
dgv58n21 CNV loss 19592680
esv3579335 CNV loss 25503493
esv3625293 CNV gain 21293372
esv3625294 CNV gain 21293372
esv3625296 CNV gain 21293372
esv3891925 CNV gain 25118596
nsv1035575 CNV gain 25217958
nsv1040844 CNV gain 25217958
nsv1129359 OTHER inversion 24896259
nsv499766 OTHER inversion 21111241
nsv553406 CNV loss 21841781
nsv7215 OTHER inversion 18451855
nsv7659 CNV deletion 18451855

Variation tolerance for PPFIBP2 Gene

Residual Variation Intolerance Score: 14.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.89; 83.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPFIBP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPFIBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPFIBP2 Gene

Disorders for PPFIBP2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PPFIBP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bile duct cancer
  • bile duct tumor
brachydactyly, type e1
  • bde1
cataract 21, multiple types
  • ctrct21
bile duct adenocarcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPFIBP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PPFIBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPFIBP2 Gene

Publications for PPFIBP2 Gene

  1. Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins. (PMID: 9624153) Serra-Pagès C … Streuli M (The Journal of biological chemistry 1998) 2 3 4
  2. Crystal structure of the central coiled-coil domain from human liprin-β2. (PMID: 21462929) Stafford RL … Bowie JU (Biochemistry 2011) 3 4
  3. Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists. (PMID: 20095854) Bhatti P … Sigurdson AJ (Radiation research 2010) 3 41
  4. 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 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for PPFIBP2 Gene

Sources for PPFIBP2 Gene