Aliases for PVALB Gene
External Ids for PVALB Gene
- HGNC: 9704
- Entrez Gene: 5816
- Ensembl: ENSG00000100362
- OMIM: 168890
- UniProtKB: P20472
Previous GeneCards Identifiers for PVALB Gene
- GC22M033811
- GC22M035439
- GC22M035521
- GC22M037196
- GC22M020159
Summaries for PVALB Gene
-
The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
GeneCards Summary for PVALB Gene
PVALB (Parvalbumin) is a Protein Coding gene. Diseases associated with PVALB include Fish Allergy and Fetal Alcohol Syndrome. GO annotations related to this gene include calcium ion binding and protein heterodimerization activity. An important paralog of this gene is OCM2.
UniProtKB/Swiss-Prot for PVALB Gene
-
In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PVALB Gene
Genomics for PVALB Gene
Regulatory Elements for PVALB Gene
Enhancers for PVALB Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around PVALB on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for PVALB Gene
- Chromosome:
- 22
- Start:
- 36,800,684 bp from pter
- End:
- 36,819,479 bp from pter
- Size:
- 18,796 bases
- Orientation:
- Minus strand
Genomic View for PVALB Gene
Genes around PVALB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.3 by Ensembl
- 22q12.3 by Entrez Gene
- 22q12.3 by HGNC
PVALB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PVALB Gene
Proteins for PVALB Gene
-
Protein details for PVALB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P20472-PRVA_HUMAN
- Recommended name:
- Parvalbumin alpha
- Protein Accession:
- P20472
- B2R4H7
- P78378
- Q4VB78
- Q5R3Q9
Protein attributes for PVALB Gene
- Size:
- 110 amino acids
- Molecular mass:
- 12059 Da
- Quaternary structure:
- No Data Available
Protein Expression for PVALB Gene
Post-translational modifications for PVALB Gene
Other Protein References for PVALB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PVALB (Parvalbumin alpha)
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-
Abcam antibodies for PVALB
- Invitrogen Antibodies for PVALB
- antibodies-online Antibodies for PVALB: See all 76
- GeneTex PVALB antibody for PVALB
Protein Products
-
OriGene Purified Proteins for PVALB
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-
ProSci Proteins for PVALB
-
Abcam proteins for PVALB
Assay Products
- antibodies-online Kits for PVALB: See all 14
No data available for DME Specific Peptides for PVALB Gene
Domains & Families for PVALB Gene
Gene Families for PVALB Gene
Protein Domains for PVALB Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PVALB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P20472- Family:
-
- Belongs to the parvalbumin family.
Function for PVALB Gene
Molecular function for PVALB Gene
- GENATLAS Biochemistry:
- parvalbumin,high affinity calcium binding protein,in muscle fibers IIB and GABAergic cells
- UniProtKB/Swiss-Prot Function:
- In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0042803 | protein homodimerization activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
| GO:0046982 | protein heterodimerization activity | IEA | -- |
Phenotypes for PVALB Gene
- MGI mutant phenotypes for PVALB:
- inferred from 11 alleles
- GenomeRNAi human phenotypes for PVALB:
-
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability in esophageal squamous lineage
- Increased transferrin (TF) endocytosis
- Strongly decreased CFP-tsO45G cell surface transport
- Increased G1 DNA content
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Increased cell number in S
Animal Models for PVALB Gene
- MGI Knock Outs for PVALB:
-
- Pvalb tm1Swal
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
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-
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CRISPR Products
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-
Santa Cruz Biotechnology (SCBT) CRISPR for PVALB
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miRNA for PVALB Gene
- miRTarBase miRNAs that target PVALB
miRNA Products
- Search ViGene Biosciences for PVALB
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for PVALB
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Clone Products
-
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for PVALB
-
ViGene Biosciences adenoviral particle packaged cDNA for PVALB gene
-
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-
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PVALB Gene
Localization for PVALB Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 4 |
| cytoskeleton | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0030424 | axon | IEA | -- |
| GO:0043025 | neuronal cell body | IEA | -- |
| GO:0043195 | terminal bouton | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PVALB Gene
Pathways & Interactions for PVALB Gene
No Data Available
Interacting Proteins for PVALB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0051480 | regulation of cytosolic calcium ion concentration | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for PVALB Gene
Transcripts for PVALB Gene
mRNA/cDNA for PVALB Gene
- (2) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (98) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for PVALB
-
Santa Cruz Biotechnology (SCBT) CRISPR for PVALB
- GenScript: Design CRISPR guide RNA sequences for PVALB
miRNA Products
- Search ViGene Biosciences for PVALB
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for PVALB
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-
ViGene Biosciences ready-to-package AAV shRNAs for PVALB gene
Clone Products
-
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- VectorBuilder custom plasmid, inducible vectors for PVALB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PVALB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Expression for PVALB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Thyroid (Endocrine System)
- Adipose (Muscoskeletal System)
-
Skeletal Muscle (Muscoskeletal System)
-
Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for PVALB Gene
This gene is overexpressed in Brain - Cerebellum (x20.8) and Brain - Cerebellar Hemisphere (x12.1).
This gene is overexpressed in Retina (29.5), Frontal cortex (9.9), and Brain (8.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PVALB Gene
NURSA nuclear receptor signaling pathways regulating expression of PVALB Gene:
PVALBSOURCE GeneReport for Unigene cluster for PVALB Gene:
Hs.295449Evidence on tissue expression from TISSUES for PVALB Gene
- Nervous system(4.8)
- Eye(2.7)
- Kidney(2.7)
- Thyroid gland(2.6)
- Muscle(2.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for PVALB
-
OriGene qPCR primer pairs for PVALB
No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PVALB Gene
Orthologs for PVALB Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PVALB 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pvalb 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PVALB 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | PVALB 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Pvalb 16 35 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PVALB 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PVALB 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PVALB1 35 |
|
OneToOne | |
| PVALB 34 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | PVALB 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100486372 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pvalb7 35 |
|
OneToMany | |
| pvalb6 34 35 |
|
||||
| Dr.14147 34 |
|
- Species where no ortholog for PVALB 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)
- fruit fly (Drosophila melanogaster)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- worm (Caenorhabditis elegans)
Paralogs for PVALB Gene
Variants for PVALB Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000104079 | -- | 36,802,227(+) | TTCTG(C/T)ATATC | intron-variant | |
| rs1000244147 | -- | 36,811,111(+) | TCTCT(A/C)CTAAA | intron-variant | |
| rs1000296575 | -- | 36,810,884(+) | AAGTC(C/G/T)GTACA | intron-variant | |
| rs1000434673 | -- | 36,816,250(+) | ATTTC(C/T)CCATC | intron-variant | |
| rs1000650187 | -- | 36,800,235(+) | CACCC(A/C)TCCAT | downstream-variant-500B |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758837 | CNV | gain+loss | 17122850 |
| esv3647695 | CNV | loss | 21293372 |
| nsv1060986 | CNV | gain | 25217958 |
| nsv3617 | CNV | deletion | 18451855 |
| nsv3618 | CNV | insertion | 18451855 |
| nsv522590 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
55.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.34;
41.63% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for PVALB Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PVALB
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PVALB Gene
Disorders for PVALB Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fish allergy |
|
|
| fetal alcohol syndrome |
|
|
| breast fibrosarcoma |
|
|
| temporal lobe epilepsy |
|
|
| status epilepticus |
|
|
Search PVALB in MalaCards
View complete list of genes associated with diseases
Relevant External Links for PVALB
No data available for UniProtKB/Swiss-Prot and Genatlas for PVALB Gene
Publications for PVALB Gene
- The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 64
- Electrospray ionization mass spectrometry: analysis of the Ca2+- binding properties of human recombinant alpha-parvalbumin and nine mutant proteins. (PMID: 10036163) Troxler H. … Heizmann C.W. (Anal. Biochem. 1999) 3 4 22 64
- Human alpha and beta parvalbumins. Structure and tissue-specific expression. (PMID: 8354278) Foehr U.G. … Heizmann C.W. (Eur. J. Biochem. 1993) 3 4 22 64
- The genes for the highly homologous Ca(2+)-binding proteins oncomodulin and parvalbumin are not linked in the human genome. (PMID: 1559707) Ritzler J.M. … Berchtold M.W. (Genomics 1992) 2 3 22 64
- A genome-wide association study of female sexual dysfunction. (PMID: 22509378) Burri A. … Spector T.D. (PLoS ONE 2012) 3 46 64
Products for PVALB Gene
- R&D Systems Antibodies for PVALB (Parvalbumin alpha)
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- VectorBuilder custom plasmid, inducible vectors for PVALB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PVALB
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for PVALB Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
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- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
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- (128) Genetics Home Reference
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- (133) NCBI Bookshelf
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- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (140) FANTOM5
- (141) ENCODE
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- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer