PVALB Gene

Aliases
for PVALB gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC22M033811 GC22M035439 GC22M035521 GC22M020159

Summaries
for PVALB gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for PVALB gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000022.10  NT_011520.13  NT_187631.1  NC_018933.2  

SwitchGear Promoter luciferase reporter plasmid: PVALB promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PVALB

PVALB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M037196:  view genomic region     (about GC identifiers)

Proteins
for PVALB gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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2 PDB 3D structures from and Proteopedia for PVALB:

1RJV (3D)        1RK9 (3D)    

Explore the universe of human proteins at neXtProt for PVALB: NX_P20472

Explore proteomics data for PVALB at MOPED

Post-translational modifications: 

PVALB Human Recombinant Protein Products:

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	antibodies-online proteins for PVALB (31 products)
	antibodies-online peptides for PVALB

PVALB Antibody Products:

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PVALB Assay Products:

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	antibodies-online kits for PVALB (16 products)

Domains /
Families
for PVALB gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P20472

Find genes that share domains with PVALB           About GenesLikeMe

Function
for PVALB gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 3 molecular function terms:    About this table

(inferred from 10 alleles) (MGI details for Pvalb)

genOway: Develop your customized and physiologically relevant rodent model for PVALB

miRNA Products:		miRTarBase miRNAs that target PVALB: hsa-mir-26b-5p (MIRT028750)
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		5 qRT-PCR Assays for microRNAs that regulate PVALB:
		hsa-miR-525-5p hsa-miR-4310 hsa-miR-766 hsa-miR-520a-5p hsa-miR-338-3p
		SwitchGear 3'UTR luciferase reporter plasmid: PVALB 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PVALB
		Predesigned siRNA for gene silencing in human, mouse, rat PVALB

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for PVALB

Clone Products:		OriGene clones in human, mouse for PVALB (see all 6) OriGene ORF clones in mouse, rat for PVALB OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PVALB (NM_002854)
		Sino Biological Human cDNA Clone for PVALB
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PVALB

Localization
for PVALB gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytoskeleton	3
nucleus	3
cytosol	2
endoplasmic reticulum	2
extracellular	1
mitochondrion	1
plasma membrane	1

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Gene Ontology (GO): 4 cellular component terms:    About this table

Pathways & Interactions
for PVALB gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): 1 biological process term:    About this table

Drugs & Compounds
for PVALB gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for PVALB gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for PVALB gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PVALB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTGGACAAGG

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Brain (Nervous System)    fully expand to see all 3 entries
Midbrain tegmentum
Adipose (Muscoskeletal System)
Interscapular Brown Adipose Depot
Neural Tube (Nervous System)
Metencephalon
Kidney (Urinary System)
Skeletal Muscle (Muscoskeletal System)

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		QuantiFast Probe-based Assays in human, mouse, rat PVALB

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PVALB

Orthologs
for PVALB gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for PVALB gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for PVALB gene

OCM2²  OCM²  

10 SIMAP similar genes for PVALB using alignment to 4 protein entries:     PRVA_HUMAN (see all proteins):

OCM2    OCM    CALN1    CALM1    CALM2    TNNC2

CALM3    HZGJ    PPP3R1    PPP3R2

Find genes that share paralogs with PVALB           About GenesLikeMe

Genomic Variants
for PVALB gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PVALB (see all 537)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs602498821,2	C	--	20167620(+)	ATCTT-/ATAGTAAA	1	--	int1		2		NA	4
rs1113663751,2	C,F	--	37196293(+)	TTTACC/ACATCT	1	--	ds5001		2		NA	4
rs48215281,2	A	--	37196377(+)	cccatC/Tcatcc	1	--	ds5001		0	--	--	--	--
rs48215291,2	C,F,H	--	37196448(+)	TCAAAC/TCCCAA	1	--	ds5001		16		NS EA NA WA CSA	794
rs48215301,2	C,F,H	--	37196459(+)	CACTAA/GCAAAT	1	--	ds5001		12		NS EA NA WA CSA	786
rs57563491,2	C,F,A,H	--	37196680(+)	CCACCC/TCCTGC	1	--	ds5001		19		NS EA NA WA	2342
rs560104431,2		--	37196816(+)	CAGGGA/GATGGG	1	--	ut31		0	--	--	--	--
rs34841,2	C,F,A,H	--	37196871(+)	GTGGCA/GAGAGG	1	--	ut31 ese3		21		MN NA PA EA WA EU	2249
rs1818557701,2		--	37196879(+)	AGGGGA/CCGAGA	1	--	ut31		0	--	--	--	--
rs124839241,2	C,H	--	37196905(+)	AGAGAG/CGTGGA	1	--	ut31		4		NS EA	420

HapMap Linkage Disequilibrium report for PVALB (37196728 - 37215523 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for PVALB:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv3618	CNV	Insertion	18451855
nsv522590	CNV	Loss	19592680
nsv3617	CNV	Loss	18451855
dgv1403e1	CNV	Complex	17122850
dgv1404e1	CNV	Complex	17122850
dgv1405e1	CNV	Complex	17122850

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PVALB

DNA2.0 Custom Variant and Variant Library Synthesis for PVALB

Disorders / Diseases
for PVALB gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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9 diseases for PVALB

Selected Novoseek inferred disease relationships for PVALB gene (see all 57)    About this table

Publications
for PVALB gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PVALB gene, integrated from 10 sources (see all 516): (articles sorted by number of sources associating them with PVALB)

Utopia: connect your pdf to the dynamic world of online information

1. The DNA sequence of human chromosome 22. (PubMed id 10591208)^{1, 2, 3} Dunham I.... Wright H. (Nature 1999)
2. Electrospray ionization mass spectrometry: analysis of the Ca2+- binding properties of human recombinant alpha-parvalbumin and nine mutant proteins. (PubMed id 10036163)^{1, 2, 9} Troxler H.... Heizmann C.W. (Anal. Biochem. 1999)
3. Human alpha and beta parvalbumins. Structure and tissue-specific expression. (PubMed id 8354278)^{1, 2, 9} Foehr U.G.... Heizmann C.W. (Eur. J. Biochem. 1993)
4. The genes for the highly homologous Ca(2+)-binding proteins oncomodulin and parvalbumin are not linked in the human genome. (PubMed id 1559707)^{1, 3, 9} Ritzler J.M....Berchtold M.W. (Genomics 1992)
5. A genome-wide association study of female sexual dysfunction. (PubMed id 22509378)^{1, 4} Burri A....Spector T.D. (PLoS ONE 2012)
6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (Genome Biol. 2004)
7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
8. Parvalbumin genes from human and rat are identical in intron/exon organization and contain highly homologous regulatory elements and coding sequences. (PubMed id 2614829)^{1, 2} Berchtold M.W. (J. Mol. Biol. 1989)
9. Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome. (PubMed id 18469313)^{1, 9} Riveira-Munoz E....Dahan K. (Nephrol. Dial. Transplant. 2008)
10. Distribution of parvalbumin and calretinin immunoreactive interneurons in motor cortex from multiple sclerosis post-mortem tissue. (PubMed id 18297277)^{1, 9} Clements R.J....Freeman E.J. (Exp Brain Res 2008)

External Searches for PVALB gene

Genome Databases showing PVALB gene

Other Databases showing PVALB gene

Specialized Databases showing PVALB gene

Products
for PVALB gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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