This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010] See more...

Aliases for PARVA Gene

Aliases for PARVA Gene

  • Parvin Alpha 2 3 5
  • Actopaxin 2 3 4
  • Calponin-Like Integrin-Linked Kinase-Binding Protein 3 4
  • Matrix-Remodeling-Associated Protein 2 3 4
  • Alpha-Parvin 3 4
  • CH-ILKBP 3 4
  • MXRA2 3 4
  • Matrix-Remodelling Associated 2 2

External Ids for PARVA Gene

Previous HGNC Symbols for PARVA Gene

  • MXRA2

Previous GeneCards Identifiers for PARVA Gene

  • GC11P013670
  • GC11P013148
  • GC11P012438
  • GC11P012363
  • GC11P012355
  • GC11P012075

Summaries for PARVA Gene

Entrez Gene Summary for PARVA Gene

  • This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010]

GeneCards Summary for PARVA Gene

PARVA (Parvin Alpha) is a Protein Coding gene. Diseases associated with PARVA include Metagonimiasis and Breast Giant Fibroadenoma. Among its related pathways are Adhesion and Cell junction organization. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is PARVB.

UniProtKB/Swiss-Prot Summary for PARVA Gene

  • Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishement of cell polarity, cell adhesion, cell spreading, and directed cell migration.

Gene Wiki entry for PARVA Gene

Additional gene information for PARVA Gene

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

Genomics for PARVA Gene

GeneHancer (GH) Regulatory Elements for PARVA Gene

Promoters and enhancers for PARVA 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
GH11J012375 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 509.6 +1.1 1108 3.7 POLR2G PHF8 TEAD4 ZFX CTCF POLR2A ZBTB26 UBTF CHD1 EP300 PARVA TEAD1 lnc-MICAL2-5
GH11J012673 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 +305.1 305056 17 ZNF217 EP300 ZSCAN5C NRF1 MYC TCF12 POLR2G USF1 GTF2E2 PHF8 TEAD1 PARVA lnc-DKK3-3 lnc-RASSF10-4
GH11J012407 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 11.1 +35.2 35200 8 CTCF JUND FOS TRIM28 REST SMC3 FOXA2 NR2F2 ZBTB17 MAFF PARVA ENSG00000252329 lnc-MICAL2-5
GH11J012396 Enhancer 1 Ensembl ENCODE dbSUPER 11.7 +21.6 21559 3.4 JUND FOS REST RBM25 NR2F2 WT1 SP2 KLF17 ZKSCAN1 ATF2 PARVA lnc-MICAL2-5
GH11J012400 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.7 +26.5 26460 4.2 ZNF10 ZIC2 ATF2 FOXA2 RXRA RAD21 HNF4A FOXA1 ZNF652 ATF7 PARVA lnc-MICAL2-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PARVA on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the PARVA gene promoter:
  • aMEF-2
  • Cdc5
  • HNF-1
  • HNF-1A
  • HSF2
  • MEF-2A
  • NF-kappaB
  • POU2F1
  • POU2F1a

Genomic Locations for PARVA Gene

Genomic Locations for PARVA Gene
chr11:12,376,441-12,535,356
(GRCh38/hg38)
Size:
158,916 bases
Orientation:
Plus strand
chr11:12,398,732-12,556,903
(GRCh37/hg19)
Size:
158,172 bases
Orientation:
Plus strand

Genomic View for PARVA Gene

Genes around PARVA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PARVA Gene

Proteins for PARVA Gene

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

    Protein Symbol:
    Q9NVD7-PARVA_HUMAN
    Recommended name:
    Alpha-parvin
    Protein Accession:
    Q9NVD7
    Secondary Accessions:
    • Q96C85
    • Q9HA48

    Protein attributes for PARVA Gene

    Size:
    372 amino acids
    Molecular mass:
    42244 Da
    Quaternary structure:
    • Interacts with TGFB1I1 (By similarity). Interacts with ILK, LIMS1 and PXN (via LD motifs). Interacts with ARHGAP31. Interacts with the actin cytoskeleton.

    Three dimensional structures from OCA and Proteopedia for PARVA Gene

    Alternative splice isoforms for PARVA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PARVA Gene

Post-translational modifications for PARVA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PARVA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PARVA Gene

Domains & Families for PARVA Gene

Gene Families for PARVA Gene

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

Protein Domains for PARVA Gene

Blocks:
  • Calponin-like actin-binding
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PARVA Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54827, highly similar to Alpha-parvin (B7Z952_HUMAN)
  • Matrix-remodeling-associated protein 2 (PARVA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NVD7

UniProtKB/Swiss-Prot:

PARVA_HUMAN :
  • Belongs to the parvin family.
Family:
  • Belongs to the parvin family.
genes like me logo Genes that share domains with PARVA: view

Function for PARVA Gene

Molecular function for PARVA Gene

UniProtKB/Swiss-Prot Function:
Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and is required for normal adhesion of vascular smooth muscle cells to endothelial cells during blood vessel development (By similarity). Plays a role in the reorganization of the actin cytoskeleton, formation of lamellipodia and ciliogenesis. Plays a role in the establishement of cell polarity, cell adhesion, cell spreading, and directed cell migration.

Phenotypes From GWAS Catalog for PARVA Gene

Gene Ontology (GO) - Molecular Function for PARVA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA,IEA 21873635
GO:0005515 protein binding IPI,IEA 12432066
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with PARVA: view
genes like me logo Genes that share phenotypes with PARVA: view

Animal Models for PARVA Gene

MGI Knock Outs for PARVA:

Animal Model Products

Clone Products

  • Addgene plasmids for PARVA

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

Localization for PARVA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PARVA Gene

Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Constituent of focal adhesions. Associates with the actin cytoskeleton.

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 PARVA gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cytosol (3)
  • Focal adhesion sites (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PARVA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with PARVA: view

Pathways & Interactions for PARVA Gene

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

Pathways by source for PARVA Gene

1 GeneGo (Thomson Reuters) pathway for PARVA Gene
  • Cytoskeleton remodeling Integrin outside-in signaling
2 Qiagen pathways for PARVA Gene
  • ILK Signaling
  • Paxillin Interactions
2 Cell Signaling Technology pathways for PARVA Gene

Gene Ontology (GO) - Biological Process for PARVA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002040 sprouting angiogenesis ISS,IEA --
GO:0003148 outflow tract septum morphogenesis ISS --
GO:0006935 chemotaxis IEA --
GO:0007155 cell adhesion IEA --
GO:0007163 establishment or maintenance of cell polarity ISS --
genes like me logo Genes that share ontologies with PARVA: view

No data available for SIGNOR curated interactions for PARVA Gene

Drugs & Compounds for PARVA Gene

(2) Drugs for PARVA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PARVA: view

Transcripts for PARVA Gene

mRNA/cDNA for PARVA Gene

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

Clone Products

  • Addgene plasmids for PARVA

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

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

Relevant External Links for PARVA Gene

GeneLoc Exon Structure for
PARVA

Expression for PARVA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PARVA Gene

This gene is overexpressed in Urinary Bladder (8.9), Seminal vesicle (8.8), Cardia (7.3), and Uterus (7.3).

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



Protein tissue co-expression partners for PARVA Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for PARVA Gene:

Hs.432914

mRNA Expression by UniProt/SwissProt for PARVA Gene:

Q9NVD7-PARVA_HUMAN
Tissue specificity: Widely expressed, with highest levels in heart, skeletal muscle, kidney and liver.

Evidence on tissue expression from TISSUES for PARVA Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Intestine(2.8)
  • Skin(2.8)
  • Lung(2.7)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with PARVA: view

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

Orthologs for PARVA Gene

This gene was present in the common ancestor of animals.

Orthologs for PARVA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PARVA 31 30
  • 99.49 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PARVA 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PARVA 31 30
  • 93.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PARVA 31 30
  • 92.72 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Parva 30
  • 90.5 (n)
mouse
(Mus musculus)
Mammalia Parva 17 31 30
  • 90.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PARVA 31
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PARVA 31 30
  • 81.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PARVA 31
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia parva 30
  • 81.39 (n)
zebrafish
(Danio rerio)
Actinopterygii parvab 31 31
  • 90 (a)
OneToMany
parvaa 31 30
  • 78.49 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.703 30
fruit fly
(Drosophila melanogaster)
Insecta CG32528 31
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pat-6 31 32 30
  • 53.97 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 59 (a)
OneToMany
Species where no ortholog for PARVA 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)
  • 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 PARVA Gene

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

Paralogs for PARVA Gene

Paralogs for PARVA Gene

(2) SIMAP similar genes for PARVA Gene using alignment to 5 proteins:

  • PARVA_HUMAN
  • B7Z952_HUMAN
  • E9PS97_HUMAN
  • F5H1R9_HUMAN
  • J3KNQ4_HUMAN
genes like me logo Genes that share paralogs with PARVA: view

Variants for PARVA Gene

Additional dbSNP identifiers (rs#s) for PARVA Gene

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

Variant ID Type Subtype PubMed ID
dgv1059n100 CNV gain 25217958
dgv1657n54 CNV loss 21841781
dgv589n106 CNV deletion 24896259
esv2411772 CNV deletion 18987734
esv26204 CNV loss 19812545
esv2624026 CNV deletion 19546169
esv2670255 CNV deletion 23128226
esv3547336 CNV deletion 23714750
esv3579371 CNV loss 25503493
esv3579373 CNV loss 25503493
esv3625390 CNV gain 21293372
esv3625391 CNV gain 21293372
esv3625392 CNV loss 21293372
esv3625393 CNV gain 21293372
esv3625395 CNV gain 21293372
esv3625396 CNV loss 21293372
esv3625397 CNV loss 21293372
esv3625398 CNV loss 21293372
esv3891929 CNV loss 25118596
nsv1050553 CNV gain 25217958
nsv1070433 CNV deletion 25765185
nsv1144535 CNV deletion 24896259
nsv1145500 CNV deletion 24896259
nsv477778 CNV novel sequence insertion 20440878
nsv483000 CNV loss 15286789
nsv519326 CNV loss 19592680
nsv524625 CNV loss 19592680

Variation tolerance for PARVA Gene

Residual Variation Intolerance Score: 22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PARVA Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PARVA Gene

Disorders for PARVA Gene

MalaCards: The human disease database

(12) MalaCards diseases for PARVA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
metagonimiasis
  • infection by metagonimus yokogawai
breast giant fibroadenoma
  • giant fibroadenoma
theileriasis
  • infection by theileria
adiaspiromycosis
balantidiasis
  • b coli infection
- elite association - COSMIC cancer census association via MalaCards
Search PARVA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PARVA

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 PARVA: view

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

Publications for PARVA Gene

  1. Parvin, a 42 kDa focal adhesion protein, related to the alpha-actinin superfamily. (PMID: 11171322) Olski TM … Korenbaum E (Journal of cell science 2001) 2 3 4 23 54
  2. The pseudoactive site of ILK is essential for its binding to alpha-Parvin and localization to focal adhesions. (PMID: 20005845) Fukuda K … Qin J (Molecular cell 2009) 3 4 23 54
  3. Structural analysis of the interactions between paxillin LD motifs and alpha-parvin. (PMID: 18940607) Lorenz S … Hoellerer MK (Structure (London, England : 1993) 2008) 3 4 23 54
  4. The structure of alpha-parvin CH2-paxillin LD1 complex reveals a novel modular recognition for focal adhesion assembly. (PMID: 18508764) Wang X … Qin J (The Journal of biological chemistry 2008) 3 4 23 54
  5. CdGAP associates with actopaxin to regulate integrin-dependent changes in cell morphology and motility. (PMID: 16860736) LaLonde DP … Turner CE (Current biology : CB 2006) 3 4 23 54

Products for PARVA Gene

Sources for PARVA Gene