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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PVALB Gene

protein-coding GIFtS: 57
GCID: GC22M037196

Parvalbumin

Alzheimer's & Parkinson's Diseases Congress

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
parvalbumin¹ ²
D22S749²
Parvalbumin Alpha²

External Ids:	HGNC: 9704¹	Entrez Gene: 5816²	Ensembl: ENSG00000100362⁷	OMIM: 168890⁵	UniProtKB: P20472³

Export aliases for PVALB gene to outside databases

Previous GC identifers: GC22M033811 GC22M035439 GC22M035521 GC22M020159

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for PVALB Gene:

PVALB (parvalbumin) is a protein-coding gene. Diseases associated with PVALB include breast fibrosarcoma, and subcortical band heterotopia. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is OCM2.

UniProtKB/Swiss-Prot: PRVA_HUMAN, P20472

Function: In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium

ions

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.2 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PVALB gene promoter:
Pax-5 AML1a Lmo2 XBP-1 IRF-1 AP-4 Nkx2-5 E47 MZF-1 Cart-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PVALB promoter sequence

Search SABiosciences Chromatin IP Primers for PVALB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PVALB

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1 Ensembl cytogenetic band: 22q12.3 HGNC cytogenetic band: 22q13.1

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

GeneLoc information about chromosome 22 GeneLoc Exon Structure

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

Start:	37,196,728 bp from pter	End:	37,215,523 bp from pter
Size:	18,796 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PRVA_HUMAN, P20472 (See protein sequence)

Recommended Name: Parvalbumin alpha

Size: 110 amino acids; 12059 Da

Mass spectrometry: Mass=11927; Mass_error=0.76; Method=Electrospray; Range=2-110; Source=PubMed:10036163;

2 PDB 3D structures from and Proteopedia for PVALB:

1RJV (3D)

1RK9 (3D)

Secondary accessions: B2R4H7 P78378 Q4VB78 Q5R3Q9

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

Explore proteomics data for PVALB at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P20472

PVALB Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_002845.1

ENSEMBL proteins:

ENSP00000400247 ENSP00000216200 ENSP00000384735 ENSP00000386089 ENSP00000406977

Human Recombinant Protein Products for PVALB:

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	Sino Biological Recombinant Protein for PVALB Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for PVALB
	Cloud-Clone Corp. Proteins for PVALB

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0030424	axon	IEA	--

PVALB for ontologies About GeneDecksing

PVALB Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PVALB
	R&D Systems Antibodies for PVALB (Parvalbumin alpha)
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	Abcam antibodies for PVALB
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	ThermoFisher Antibody for PVALB
	LSBio Antibodies in human, mouse, rat for PVALB

Assay Products for PVALB:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for PVALB
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PVALB
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for PVALB Cloud-Clone Corp. CLIAs for PVALB

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

EFHAND: EF-hand domain containing

4 InterPro protein domains:

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_dom

IPR008080 Parvalbumin

IPR018247 EF_Hand_1_Ca_BS

Graphical View of Domain Structure for InterPro Entry P20472

ProtoNet protein and cluster: P20472

1 Blocks protein domain: IPB008080 Parvalbumin signature

UniProtKB/Swiss-Prot: PRVA_HUMAN, P20472

Similarity: Belongs to the parvalbumin family

Similarity: Contains 2 EF-hand domains

PVALB for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PRVA_HUMAN, P20472

Function: In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium

ions

Genatlas biochemistry entry for PVALB:

parvalbumin,high affinity calcium binding protein,in muscle fibers IIB and GABAergic cells

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--

PVALB for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for PVALB:

Increased G1 DNA content

Increased cell number in G2M,

Increased gamma-H2AX phosphory

6 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Pvalb):

behavior/neurological	cellular	muscle	nervous system	no phenotypic analysis
normal

PVALB for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Pvalb^tm1Swal for PVALB

inGenious Targeting Laboratory - Custom generated mouse model solutions for PVALB

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PVALB

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PVALB

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PVALB

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PVALB
		5 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for PVALB
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PVALB

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PVALB
			Sirion Biotech Customized adenovirus for overexpression of PVALB

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		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)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PVALB
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		Sirion Biotech Customized lentivirus for stable overexpression of PVALB Customized lentivirus expression plasmids for stable overexpression of PVALB

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PVALB
		Search LifeMap BioReagents cell lines for PVALB

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PVALB

(Pathways according to EMD Millipore, 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 GeneDecks, Interaction Networks according to SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PVALB

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PVALB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PVALB (PRVA)

1 HMDB Compound for PVALB About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

1 DrugBank Compound for PVALB About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Formic Acid	Aminic acid (see all 5)	64-18-6	target	--	10592235

10/45 Novoseek inferred chemical compound relationships for PVALB gene (see all 45) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lant-6	72.6	4	8252409 (3), 9290931 (1)
gaba	70.9	71	10501476 (3), 7953747 (3), 17375209 (3), 8252409 (2) (see all 39)
calcium	65.6	205	8801253 (4), 1512554 (4), 10036163 (4), 7641793 (3) (see all 99)
glutamate	60.9	40	8979811 (2), 8813295 (1), 14708030 (1), 17439984 (1) (see all 33)
choline	56.7	21	10392842 (2), 9469576 (1), 10495446 (1), 15922606 (1) (see all 20)
allergens	52.7	23	20232779 (3), 15147451 (2), 10637712 (1), 17272958 (1) (see all 19)
nmda	40.7	10	16452684 (3), 8801253 (1), 9520096 (1), 20148871 (1) (see all 6)
kainate	37.4	4	8752591 (2), 11074157 (1)
tyrosine	26.9	20	20383714 (2), 10495446 (1), 10967083 (1), 14708030 (1) (see all 19)
cyanine	25.3	2	10408601 (1), 14754864 (1)

Search CenterWatch for drugs/clinical trials and news about PVALB / PRVA

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PVALB gene:

NM_002854.2

Unigene Cluster for PVALB:

Parvalbumin

Hs.295449 [show with all ESTs]

Unigene Representative Sequence: AA203126

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000417718(uc010gwz.3) ENST00000216200(uc003apx.3) ENST00000406910

ENST00000404171 ENST00000467935 ENST00000443735

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PVALB
		5 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for PVALB
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat 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)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PVALB
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PVALB
		Sirion Biotech Customized lentivirus for stable overexpression of PVALB Customized lentivirus expression plasmids for stable overexpression of PVALB

Primer Products:		OriGene qPCR primer pairs and template standards for PVALB OriGene qSTAR qPCR primer pairs in human, mouse for PVALB
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PVALB
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PVALB
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PVALB

Additional mRNA sequence:

AK311832.1 BC069300.1 BC096112.3 BC096113.3 BC096114.1 BC096115.1 CR456552.1 X63070.1

3 DOTS entries:

DT.116063 DT.92424907 DT.95086084

24/98 AceView cDNA sequences (see all 98):

NM_002854 H47665 AW139024 CR456552 BX098124 BP428769 X63070 BC069300

AA010609 AI003770 AI027079 H47585 BP431092 W39047 H92211 AI057566

AW271690 BQ638514 AI335012 W63631 AI307387 AI022812 H92210 BM687969

GeneLoc Exon Structure

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PVALB expression in normal human tissues (normalized intensities) PVALB embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTGGACAAGG

About this image

PVALB expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/10 selected tissues (see all 10) fully expand


Brain (Nervous System) fully expand to see all 19 entries
Thalamus
Septum

Spinal Cord (Nervous System) fully expand to see all 3 entries
Dorsal Horn

Peripheral Nervous System (Nervous System)
spinal/ganglion/dorsal root ganglion

Bone (Muscoskeletal System)
sensory organ/ear/inner ear

Neural Tube (Nervous System)
Metencephalon

See PVALB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PVALB

SOURCE GeneReport for Unigene cluster: Hs.295449

SABiosciences Custom PCR Arrays for PVALB

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		QIAGEN 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 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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for PVALB gene from 5/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pvalb^{1 , 5}	parvalbumin^{1, 5}	89.09(n)¹ 87.27(a)¹		15 (36.93 cM)⁵ 19293¹ NM_013645.3¹ NP_038673.2¹ 78191114⁵
chicken (Gallus gallus)	Aves	PVALB¹	parvalbumin	74.55(n) 79.09(a)		396459 NM_001159315.1 NP_001152787.1
lizard (Anolis carolinensis)	Reptilia	PVALB⁶	Uncharacterized protein	79(a)	1 ↔ 1	5(22525081-22545720)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BX724784.1²	--	76.47(n)		BX724784.1
zebrafish (Danio rerio)	Actinopterygii	Dr.14147²	Danio rerio parvalbumin isoform 4b mRNA, complete cds	69.55(n)		AF467913.1

ENSEMBL Gene Tree for PVALB (if available)
TreeFam Gene Tree for PVALB (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

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

PVALB for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs60249882^1,2	C	--	20167620(+)	`ATCTT-/ATAGTAAA`	1	--	int¹		2		NA	4
rs111366375^1,2	C,F	--	37196293(+)	`TTTACC/ACATCT`	1	--	ds500¹		2		NA	4
rs4821528^1,2	A	--	37196377(+)	`cccatC/Tcatcc`	1	--	ds500¹		0	--	--	--	--
rs4821529^1,2	C,F,H	--	37196448(+)	`TCAAAC/TCCCAA`	1	--	ds500¹		16		NS EA NA WA CSA	794
rs4821530^1,2	C,F,H	--	37196459(+)	`CACTAA/GCAAAT`	1	--	ds500¹		12		NS EA NA WA CSA	786
rs5756349^1,2	C,F,A,H	--	37196680(+)	`CCACCC/TCCTGC`	1	--	ds500¹		19		NS EA NA WA	2342
rs56010443^1,2		--	37196816(+)	`CAGGGA/GATGGG`	1	--	ut3¹		0	--	--	--	--
rs3484^1,2	C,F,A,H	--	37196871(+)	`GTGGCA/GAGAGG`	1	--	ut3¹ ese³		21		MN NA PA EA WA EU	2249
rs181855770^1,2		--	37196879(+)	`AGGGGA/CCGAGA`	1	--	ut3¹		0	--	--	--	--
rs12483924^1,2	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

SABiosciences Cancer Mutation PCR Assays

SeqTarget long-range PCR primers for resequencing PVALB

DNA2.0 Custom Variant and Variant Library Synthesis for PVALB

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 168890 OMIM disorders: --

60 diseases for PVALB (see first 20): About MalaCards

breast fibrosarcoma subcortical band heterotopia gangliocytoma scrapie

oxyphilic adenoma renal oncocytoma neuronal ceroid-lipofuscinoses transient cerebral ischemia

chromophobe renal cell carcinoma gitelman syndrome fetal alcohol syndrome ganglioglioma

focal epilepsy xeroderma pigmentosum, group a dentatorubral-pallidoluysian atrophy diastolic heart failure

temporal lobe epilepsy duchenne muscular dystrophy west syndrome multiple system atrophy

neuronal migration disorders tuberous sclerosis complex motor neuron disease renal clear cell carcinoma

progressive supranuclear palsy acquired immunodeficiency syndrome pneumothorax teratocarcinoma

tetanus malignant pleural mesothelioma bipolar disorder brain disease

ischemia fibrosarcoma lateral sclerosis xeroderma pigmentosum

amyotrophic lateral sclerosis major depressive disorder urticaria renal cell carcinoma

tuberous sclerosis hypertrophic cardiomyopathy spinocerebellar ataxia cerebritis

parkinson's disease albinism muscular dystrophy schizophrenia

retinoblastoma dementia huntington's disease alzheimer's disease

ataxia alcoholism adenoma multiple sclerosis

neuroblastoma retinitis neuronitis cervicitis

7 diseases from the University of Copenhagen DISEASES database for PVALB:

Schizophrenia Neurodegenerative disease Brain disease Hypersensitivity reaction type I disease

Tetanus Oxyphilic adenoma Renal oncocytoma

PVALB for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/57 Novoseek inferred disease relationships for PVALB gene (see all 57) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
oncocytoma	63.7	13	16927643 (6), 11337362 (1), 14695146 (1), 16166433 (1) (see all 7)
epilepsy temporal lobe	54.9	3	1865007 (1), 9329455 (1), 16822257 (1)
schizophrenia	48	18	11532725 (2), 12589379 (2), 15555777 (1), 11955958 (1) (see all 16)
epilepsy	47	10	17535552 (1), 8064311 (1), 18562329 (1), 17267178 (1) (see all 7)
fetal alcohol syndrome	39.9	2	19251116 (1)
neurodegeneration	39.1	2	10448425 (1), 15043712 (1)
allergy	38.2	7	15696099 (1), 19398906 (1), 12783765 (1), 11971005 (1) (see all 7)
carcinoma renal cell	35.5	11	15286660 (4), 11504835 (3), 16927643 (1), 16512599 (1)
gliosis	35.3	1	17485991 (1)
neurofibrillary tangles	34.9	2	1717900 (2)

Genetic Association Database (GAD): PVALB

Export disorders for PVALB gene to outside databases

(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)
About This Section

PubMed articles for PVALB gene, integrated from 9 sources (see all 512):
(articles sorted by number of sources associating them with PVALB)

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The DNA sequence of human chromosome 22. (PubMed id 10591208)^{1, 2, 3} Dunham I....O'Brien K.P. (1999)
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. (1999)
Human alpha and beta parvalbumins. Structure and tissue-specific expression. (PubMed id 8354278)^{1, 2, 9} Foehr U.G.... Heizmann C.W. (1993)
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. (1992)
A genome-wide association study of female sexual dysfu nction. (PubMed id 22509378)^{1, 4} Burri A....Spector T.D. (2012)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
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. (2004)
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. (1989)
Evaluating PVALB as a candidate gene for SLC12A3-nega tive cases of Gitelman's syndrome. (PubMed id 18469313)^{1, 9} Riveira-Munoz E....Dahan K. (2008)
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. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5816	HGNC: 9704	AceView: PVALB	Ensembl:ENSG00000100362	euGenes: HUgn5816
ECgene: PVALB	H-InvDB: PVALB

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PVALB	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PVALB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PVALB gene:
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