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Aliases for PARVB Gene

Aliases for PARVB Gene

  • Parvin Beta 2 3 5
  • Affixin 2 3 4
  • Beta-Parvin 3
  • CGI-56 3

External Ids for PARVB Gene

Previous GeneCards Identifiers for PARVB Gene

  • GC22P041036
  • GC22P042653
  • GC22P042678
  • GC22P042545
  • GC22P042719
  • GC22P044395
  • GC22P027349

Summaries for PARVB Gene

Entrez Gene Summary for PARVB Gene

  • This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for PARVB Gene

PARVB (Parvin Beta) is a Protein Coding gene. Among its related pathways are Cell junction organization and ERK Signaling. GO annotations related to this gene include actin binding. An important paralog of this gene is PARVA.

UniProtKB/Swiss-Prot for PARVB Gene

  • Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. Plays a role in cell adhesion, cell spreading, establishment or maintenance of cell polarity, and cell migration.

Gene Wiki entry for PARVB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PARVB Gene

Genomics for PARVB Gene

Regulatory Elements for PARVB Gene

Enhancers for PARVB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F044023 0.9 ENCODE 15.9 +26.7 26747 4.7 HDGF ATF1 PKNOX1 CREB3L1 WRNIP1 SIN3A DMAP1 ELK1 ZNF143 JUNB PARVB GC22M044040
GH22F044020 0.7 FANTOM5 ENCODE 8.8 +22.5 22466 2.1 ZSCAN18 JUN ZNF223 INSM2 GLI4 ZEB1 HIC1 ZNF324 ZNF366 RBAK SAMM50 RPL35AP36 PARVB GC22M044040
GH22F044029 0.6 ENCODE 8.6 +32.1 32126 2.8 HDGF KLF1 BHLHE40 ZMYM3 USF2 MAX MNT ZFHX2 RAD51 POLR2A PARVB GC22M044040
GH22F044033 0.6 Ensembl ENCODE 6.9 +34.7 34672 1.2 KLF1 EGR2 PARVB GC22M044040
GH22F044046 1.1 Ensembl ENCODE 6.2 +49.8 49781 4.0 CTCF BCOR HDAC1 LEF1 ESRRA TAL1 ZMYM3 ZNF644 ZFHX2 NCOR1 PARVB GC22M044040 ENSG00000279175
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PARVB on UCSC Golden Path with GeneCards custom track

Genomic Location for PARVB Gene

Chromosome:
22
Start:
43,999,211 bp from pter
End:
44,172,949 bp from pter
Size:
173,739 bases
Orientation:
Plus strand

Genomic View for PARVB Gene

Genes around PARVB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PARVB Gene

Proteins for PARVB Gene

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

    Protein Symbol:
    Q9HBI1-PARVB_HUMAN
    Recommended name:
    Beta-parvin
    Protein Accession:
    Q9HBI1
    Secondary Accessions:
    • B0QYM8
    • B0QYN1
    • B2R9X6
    • Q5TGJ5
    • Q86X93
    • Q96PN1
    • Q9NSP7
    • Q9UGT3
    • Q9Y368
    • Q9Y3L6
    • Q9Y3L7

    Protein attributes for PARVB Gene

    Size:
    364 amino acids
    Molecular mass:
    41714 Da
    Quaternary structure:
    • Interacts with DYSF. Interacts with ILK, ARHGEF6, PXN (via LD motifs), ACTN2 and actin.
    SequenceCaution:
    • Sequence=AAD34051.1; Type=Frameshift; Positions=4, 14, 48, 58, 155, 162, 171, 327, 331, 344; Evidence={ECO:0000305}; Sequence=BG743702; Type=Frameshift; Positions=136, 232, 237; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PARVB Gene

    Alternative splice isoforms for PARVB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PARVB Gene

Post-translational modifications for PARVB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PARVB Gene

Domains & Families for PARVB Gene

Gene Families for PARVB Gene

Protein Domains for PARVB Gene

Suggested Antigen Peptide Sequences for PARVB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HBI1

UniProtKB/Swiss-Prot:

PARVB_HUMAN :
  • Contains 2 CH (calponin-homology) domains.
  • Belongs to the parvin family.
Domain:
  • Contains 2 CH (calponin-homology) domains.
Family:
  • Belongs to the parvin family.
genes like me logo Genes that share domains with PARVB: view

Function for PARVB Gene

Molecular function for PARVB Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. Plays a role in cell adhesion, cell spreading, establishment or maintenance of cell polarity, and cell migration.

Gene Ontology (GO) - Molecular Function for PARVB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 18325335
genes like me logo Genes that share ontologies with PARVB: view
genes like me logo Genes that share phenotypes with PARVB: view

Animal Models for PARVB Gene

MGI Knock Outs for PARVB:

Animal Model Products

miRNA for PARVB Gene

miRTarBase miRNAs that target PARVB

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for PARVB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PARVB Gene

Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cytoplasm, myofibril, sarcomere. Cytoplasm, myofibril, sarcomere, Z line. Note=Constituent of focal adhesions. Detected at the tips of the leading edge of cells. Colocalizes with F-actin at the tips of lamellipodia.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PARVB Gene COMPARTMENTS Subcellular localization image for PARVB gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 5
nucleus 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PARVB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005925 focal adhesion IEA,IDA 22869380
genes like me logo Genes that share ontologies with PARVB: view

Pathways & Interactions for PARVB Gene

genes like me logo Genes that share pathways with PARVB: view

Pathways by source for PARVB Gene

1 GeneGo (Thomson Reuters) pathway for PARVB Gene
1 Qiagen pathway for PARVB Gene

Gene Ontology (GO) - Biological Process for PARVB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0030031 cell projection assembly IMP 15005707
GO:0030032 lamellipodium assembly IMP 18325335
GO:0031532 actin cytoskeleton reorganization IEA,IMP 15005707
GO:0071963 establishment or maintenance of cell polarity regulating cell shape IMP 15005707
genes like me logo Genes that share ontologies with PARVB: view

No data available for SIGNOR curated interactions for PARVB Gene

Transcripts for PARVB Gene

Unigene Clusters for PARVB Gene

Parvin, beta:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PARVB Gene

GeneLoc Exon Structure for
PARVB
ECgene alternative splicing isoforms for
PARVB

Expression for PARVB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PARVB Gene

This gene is overexpressed in Muscle - Skeletal (x5.7).

Protein differential expression in normal tissues from HIPED for PARVB Gene

This gene is overexpressed in Platelet (45.6) and Peripheral blood mononuclear cells (14.6).

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



NURSA nuclear receptor signaling pathways regulating expression of PARVB Gene:

PARVB

SOURCE GeneReport for Unigene cluster for PARVB Gene:

Hs.475074

mRNA Expression by UniProt/SwissProt for PARVB Gene:

Q9HBI1-PARVB_HUMAN
Tissue specificity: Expressed predominantly in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with PARVB: view

Primer Products

No data available for Protein tissue co-expression partners for PARVB Gene

Orthologs for PARVB Gene

This gene was present in the common ancestor of animals.

Orthologs for PARVB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PARVB 34 35
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia PARVB 34
  • 88.69 (n)
cow
(Bos Taurus)
Mammalia PARVB 34 35
  • 87.09 (n)
rat
(Rattus norvegicus)
Mammalia Parvb 34
  • 86.38 (n)
mouse
(Mus musculus)
Mammalia Parvb 34 16 35
  • 85.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PARVB 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves PARVB 34 35
  • 79.52 (n)
lizard
(Anolis carolinensis)
Reptilia PARVB 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia parvb 34
  • 78.1 (n)
Str.5959 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.29274 34
zebrafish
(Danio rerio)
Actinopterygii parvb 34 35
  • 71.63 (n)
wufd02e01 34
fruit fly
(Drosophila melanogaster)
Insecta parvin 34
  • 65.03 (n)
CG32528 35
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002356 34
  • 64.05 (n)
worm
(Caenorhabditis elegans)
Secernentea pat-6 36 35
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3317 34
Species where no ortholog for PARVB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PARVB Gene

ENSEMBL:
Gene Tree for PARVB (if available)
TreeFam:
Gene Tree for PARVB (if available)

Paralogs for PARVB Gene

Paralogs for PARVB Gene

(3) SIMAP similar genes for PARVB Gene using alignment to 2 proteins:

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

Variants for PARVB Gene

Sequence variations from dbSNP and Humsavar for PARVB Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1001725 -- 44,044,930(+) ACTGA(A/C)GTTTG intron-variant
rs1002428 -- 44,139,007(-) TGCAC(A/T)GATCC intron-variant
rs1004527 -- 44,056,376(+) cacgg(A/T)tgcag intron-variant
rs1004528 -- 44,056,392(+) cccgg(A/G)ttcga intron-variant
rs1004529 -- 44,056,438(+) atcgg(A/G)caaat intron-variant

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

Variant ID Type Subtype PubMed ID
esv1420958 CNV insertion 17803354
esv1973166 CNV deletion 18987734
esv2005538 CNV deletion 18987734
esv22732 CNV gain 19812545
esv2356466 CNV deletion 18987734
esv2660969 CNV deletion 23128226
esv2670736 CNV deletion 23128226
esv2672411 CNV deletion 23128226
esv2676055 CNV deletion 23128226
esv2724331 CNV deletion 23290073
esv2724332 CNV deletion 23290073
esv2724333 CNV deletion 23290073
esv2724334 CNV deletion 23290073
esv2724335 CNV deletion 23290073
esv2724336 CNV deletion 23290073
esv2724337 CNV deletion 23290073
esv2724338 CNV deletion 23290073
esv2724340 CNV deletion 23290073
esv2724341 CNV deletion 23290073
esv2724342 CNV deletion 23290073
esv2724343 CNV deletion 23290073
esv2724344 CNV deletion 23290073
esv2724345 CNV deletion 23290073
esv27983 CNV loss 19812545
esv3558211 CNV deletion 23714750
esv3568433 CNV loss 25503493
esv3647885 CNV loss 21293372
esv3647886 CNV loss 21293372
esv3647887 CNV loss 21293372
esv3647888 CNV loss 21293372
esv3647889 CNV loss 21293372
esv3893489 CNV loss 25118596
esv991955 CNV insertion 20482838
nsv1118695 CNV duplication 24896259
nsv1131664 CNV deletion 24896259
nsv1139070 CNV deletion 24896259
nsv1144976 CNV deletion 24896259
nsv459895 CNV gain 19166990
nsv471206 CNV gain 18288195
nsv475667 CNV novel sequence insertion 20440878
nsv476245 CNV novel sequence insertion 20440878
nsv508740 CNV insertion 20534489
nsv510809 CNV deletion 20534489
nsv589101 CNV gain 21841781
nsv820857 CNV deletion 20802225
nsv834219 CNV gain 17160897
nsv955494 CNV deletion 24416366

Variation tolerance for PARVB Gene

Residual Variation Intolerance Score: 71.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.24; 52.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PARVB Gene

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

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

Disorders for PARVB Gene

Relevant External Links for PARVB

Genetic Association Database (GAD)
PARVB
Human Genome Epidemiology (HuGE) Navigator
PARVB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PARVB

No disorders were found for PARVB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PARVB Gene

Publications for PARVB Gene

  1. Parvin, a 42 kDa focal adhesion protein, related to the alpha-actinin superfamily. (PMID: 11171322) Olski T.M. … Korenbaum E. (J. Cell Sci. 2001) 2 3 4 22 64
  2. Affixin activates Rac1 via betaPIX in C2C12 myoblast. (PMID: 18325335) Matsuda C. … Hayashi Y.K. (FEBS Lett. 2008) 3 4 22 64
  3. Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. (PMID: 15835269) Matsuda C. … Hayashi Y.K. (J. Neuropathol. Exp. Neurol. 2005) 3 4 22 64
  4. The first CH domain of affixin activates Cdc42 and Rac1 through alphaPIX, a Cdc42/Rac1-specific guanine nucleotide exchanging factor. (PMID: 15005707) Mishima W. … Ishigatsubo Y. (Genes Cells 2004) 3 4 22 64
  5. Affixin interacts with alpha-actinin and mediates integrin signaling for reorganization of F-actin induced by initial cell-substrate interaction. (PMID: 15159419) Yamaji S. … Ishigatsubo Y. (J. Cell Biol. 2004) 3 4 22 64

Products for PARVB Gene

Sources for PARVB Gene

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