DFNB59 Gene
protein-coding GIFtS: 41
GCID: GC02P179316
|
|
deafness, autosomal recessive 59
| |
Aliases
for DFNB59 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Deafness, Autosomal Recessive 591 2 | | PJVK2 3 5 | | Pejvakin1 | | Autosomal Recessive Deafness Type 59 Protein2 3 |
Export aliases for DFNB59 gene to outside databasesPrevious GC identifers: GC00U921558 GC02U900985 GC02P179028 GC02P171186 |
Summaries
for DFNB59 gene(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 DFNB59:
The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. Theencoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause ofnon-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). (provided by RefSeq, Dec 2008)
UniProtKB/Swiss-Prot: PJVK_HUMAN, Q0ZLH3Function: Essential in the activity of auditory pathway neurons
|
Genomic Views
for DFNB59 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_005403.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DFNB59 gene promoter:
ISGF-3 NCX/Ncx HTF GATA-1 AREB6 SRY Sox9 LyF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for DFNB59
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DFNB59 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q31.2 Ensembl cytogenetic band: 2q31.2 HGNC cytogenetic band: 2q31.2DFNB59 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P179316: view genomic region
(about GC identifiers)
Start:
|
179,316,163 bp from pter |
End:
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179,326,117 bp from pter |
Size:
|
9,955 bases |
Orientation:
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plus strand |
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Proteins
for DFNB59 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PJVK_HUMAN, Q0ZLH3 (See
protein sequence)Recommended Name: Pejvakin Size: 352 amino acids; 39913 Da
Miscellaneous: 'Pejvakin' means 'echo' in Persian
Secondary accessions: A0PK14 B9EJE2Explore the universe of human proteins at neXtProt for DFNB59: NX_Q0ZLH3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q0ZLH3
DFNB59 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001036167.1
ENSEMBL proteins: ENSP00000386647 ENSP00000364271 ENSP00000410776 ENSP00000399579
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0043025 | neuronal cell body |
IEA | -- |
DFNB59 for ontologies About GeneDecksing
DFNB59 Antibody Products:
Assay Products for DFNB59: |
Protein
Domains /
Families
for DFNB59 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DFNB59 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q0ZLH3ProtoNet protein and cluster: Q0ZLH3 UniProtKB/Swiss-Prot: PJVK_HUMAN, Q0ZLH3Similarity: Belongs to the gasdermin family |
Function
for DFNB59 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PJVK_HUMAN, Q0ZLH3Function: Essential in the activity of auditory pathway neurons
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DFNB59 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DFNB59
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFNB59 |
1 GenomeRNAi human phenotype for DFNB59:
Animal Models:
3 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Dfnb59):
DFNB59 for phenotypes About GeneDecksing
|
Pathways & Interactions
for DFNB59 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DFNB59
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007605 | sensory perception of sound |
IEA | -- |
DFNB59 for ontologies About GeneDecksing
|
Drugs & Compounds
for DFNB59 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DFNB59
Search CenterWatch for drugs/clinical trials and news about DFNB59 / PJVK
|
Transcripts
for DFNB59 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DFNB59 gene: NM_001042702.3 Unigene Cluster for DFNB59: Deafness, autosomal recessive 59 Hs.87734 [show with all ESTs]Unigene Representative Sequence: BC0208595 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000409117(uc002umi.4 uc002umj.4) ENST00000437056 ENST00000375129
ENST00000442710 ENST00000444615
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DFNB59 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DFNB59
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DFNB59 (NM_001042702) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DFNB59 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFNB59 |
Additional cDNA sequence: BC020859.1 BC127902.1 BC127903.1 BC146938.1 DQ365827.1 8 DOTS entries: DT.40233091 DT.100747059 DT.120988744 DT.120988783 DT.120988791 DT.40124215 DT.40274839 DT.91927367
GeneLoc Exon Structure
|
Expression
for DFNB59 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 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
| DFNB59 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTTCCTTG
About this image
See DFNB59 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DFNB59
SOURCE GeneReport for Unigene cluster: Hs.87734
SABiosciences Custom PCR Arrays for DFNB59
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DFNB59
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DFNB59 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DFNB59 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DFNB59 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFNB59 |
Orthologs
for DFNB59 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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for DFNB59 gene from 4/13 species (see all 13) About this table
ENSEMBL Gene Tree for DFNB59 (if available)
TreeFam Gene Tree for DFNB59 (if available) |
Paralogs
for DFNB59 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DFNB59 gene
- DFNA52
DFNB59 for paralogs About GeneDecksing
|
Genomic Variants
for DFNB59 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DFNB59 (179316163 - 179326117 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DFNB59: --
Human Gene Mutation Database (HGMD): DFNB59
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DFNB59 |
|
Disorders
/ Diseases
for DFNB59 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DFNB59 for disorders About GeneDecksing
OMIM gene information: 610219
OMIM disorders: 610220
UniProtKB/Swiss-Prot: PJVK_HUMAN, Q0ZLH3
Defects in DFNB59 are the cause of deafness autosomal recessive type 59 (DFNB59) [MIM:610220]. DFNB59 is aform of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normalotoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion inthe area including the inner hair cells, connections between the inner hair cells and the cochlear branch of theauditory nerve, the auditory nerve itself and auditory pathways of the brainstem
5  diseases for DFNB59: About MalaCardsdeafness, autosomal recessive 59 auditory neuropathy hearing loss neuronitis
neuropathy
1 disease from the University of Copenhagen DISEASES database for DFNB59:Nonsyndromic deafness Human Genome Epidemiology (HuGE) Navigator: DFNB59 (4 documents)
Export disorders for DFNB59 gene to outside databases
|
Publications
for DFNB59 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)
About This Section
|
PubMed articles for DFNB59 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with DFNB59) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. (PubMed id 16804542)1, 2, 3 Delmaghani S.... Petit C. (2006)
- A p.C343S missense mutation in PJVK causes progressive hearing loss. (PubMed id 22617256)1, 2 Mujtaba G....Naz S. (2012)
- 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)
- Variants of OTOF and PJVK genes in Chinese patients wi th auditory neuropathy spectrum disorder. (PubMed id 21935370)1 Wang J....Qiu J.H. (2011)
- Genetic causes of nonsyndromic hearing loss in Iran i n comparison with other populations. (PubMed id 20739942)1 Mahdieh N....Zeinali S. (2010)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
- [Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy]. (PubMed id 19160860)1 Xu S....Bu X. (2008)
- Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. (PubMed id 17373699)1 Collin R.W....Kremer H. (2007)
- Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. (PubMed id 17718865)1 Hashemzadeh Chaleshtori M....Crosby A.H. (2007)
|
External Searches for DFNB59 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DFNB59 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DFNB59 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DFNB59 gene(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 DFNB59 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DFNB59 gene:
Search GeneIP for patents involving DFNB59
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DFNB59 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |  |  |  |  | | | | |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFNB59 |
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