DFNB31 Gene
protein-coding GIFtS: 54
GCID: GC09M117164
|
|
deafness, autosomal recessive 31
| |
Aliases
for DFNB31 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 311 2 | | KIAA15263 5 | | WHRN1 2 3 5 | | WI2 | | CIP981 2 5 | | CASK-Interacting Protein CIP982 | | USH2D1 2 5 | | Whirlin1 | | Autosomal Recessive Deafness Type 31 Protein2 3 | | |
Export aliases for DFNB31 gene to outside databasesPrevious GC identifers: GC09U990192 GC09M112541 GC09M114243 GC09M116204 GC09M086769 |
Summaries
for DFNB31 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 DFNB31:
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletalassembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomalrecessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcriptvariants encoding different isoforms.(provided by RefSeq, Mar 2010)
UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202Function: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti inthe inner ear (By similarity)
Gene Wiki entry for DFNB31
|
Genomic Views
for DFNB31 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_000009.11 NC_018920.1 NT_008470.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DFNB31 gene promoter:
Max1 POU2F1 POU2F1a CUTL1 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for DFNB31
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DFNB31 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q32 Ensembl cytogenetic band: 9q32 HGNC cytogenetic band: 9q32DFNB31 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M117164: view genomic region
(about GC identifiers)
Start:
|
117,164,360 bp from pter |
End:
|
117,267,736 bp from pter |
Size:
|
103,377 bases |
Orientation:
|
minus strand |
|
Proteins
for DFNB31 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: WHRN_HUMAN, Q9P202 (See
protein sequence)Recommended Name: Whirlin Size: 907 amino acids; 96586 Da
Subunit: Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A isnecessary for localization of DFNB31/WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1.Interacts with RPGR. Interacts with EPS8
Subcellular location: Cytoplasm (By similarity). Cell projection, stereocilium (By similarity). Cell projection, growthcone (By similarity). Note=Detected at the level of stereocilia in inner outer hair cells of the cochlea andvestibule. Co-localizes with the growing ends of actin filaments (By similarity). Colocalizes with MPP1 in the retina,at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC)
Sequence caution: Sequence=BAA96050.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from  and Proteopedia  for DFNB31:1UEZ (3D)
1UF1 (3D)
1UFX (3D)
Secondary accessions: A5PKU1 A5PKZ9 Q5TAU9 Q5TAV0 Q5TAV1 Q5TAV2 Q96MZ9 Q9H9F4 Q9UFZ3Alternative splicing: 4 isoforms: Q9P202-1 Q9P202-2 Q9P202-3 Q9P202-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for DFNB31: NX_Q9P202
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9P202
DFNB31 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001077354.2 NP_001166896.1 NP_056219.3
ENSEMBL proteins: ENSP00000265134 ENSP00000363172 ENSP00000354623 ENSP00000363170
Human Recombinant Protein Products:
Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16): About this table
DFNB31 for ontologies About GeneDecksing
DFNB31 Antibody Products:
Assay Products for DFNB31: |
Protein
Domains /
Families
for DFNB31 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DFNB31 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9P202ProtoNet protein and cluster: Q9P202 UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202Similarity: Contains 3 PDZ (DHR) domains |
Function
for DFNB31 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: WHRN_HUMAN, Q9P202Function: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti inthe inner ear (By similarity)
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 DFNB31 (see all 12)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DFNB31 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): DFNB31 (NM_015404) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DFNB31 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFNB31 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFNB31 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | -- | | GO:0019904 | protein domain specific binding |
-- | -- |
DFNB31 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Whrntm1Tili for DFNB31
15/16 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Whrn) (see all 16):
DFNB31 for phenotypes About GeneDecksing
|
Pathways & Interactions
for DFNB31 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 DFNB31
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/53 Interacting proteins for DFNB31 (Q9P2022, 3 ENSP000003546234) via UniProtKB, MINT, STRING, and/or I2D (see all 53)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
DFNB31 for ontologies About GeneDecksing
|
Drugs & Compounds
for DFNB31 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
|
DFNB31 for compounds About GeneDecksing
 Browse Tocris compounds for DFNB31
2 Novoseek chemical compound relationships for DFNB31 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| guanylate |
53.4 |
3 |
12641734 (1), 16829577 (1), 19853587 (1) |
| serine |
15 |
2 |
12641734 (2) |
Search CenterWatch for drugs/clinical trials and news about DFNB31 / WHRN
|
Transcripts
for DFNB31 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 DFNB31 gene (3 alternative transcripts): NM_001083885.2 NM_001173425.1 NM_015404.3 Unigene Cluster for DFNB31: Deafness, autosomal recessive 31 Hs.93836 [show with all ESTs]Unigene Representative Sequence: BC0145245 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000265134(uc004biy.4) ENST00000374059(uc004bix.3) ENST00000362057(uc004biz.4 uc004bja.4)
ENST00000374057(uc004bjb.3) ENST00000480518
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DFNB31 (see all 12)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DFNB31 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): DFNB31 (NM_015404) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DFNB31 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFNB31 |
Additional cDNA sequence: AB040959.1 AK022854.1 AK056190.1 AL110228.1 BC011918.2 BC014524.1 BC136416.1 BC142614.1 BC142684.1 12 DOTS entries: DT.444082 DT.91744357 DT.121168256 DT.100744759 DT.91741714 DT.100744760 DT.121168276 DT.121168280 DT.91741712 DT.91741713 DT.95232238 DT.121168282 24/96 AceView cDNA sequences (see all 96): CA428581 AI669619 BQ636975 BM725795 BG983396 AA317697 BE890168 AK056190 AA938876 BQ772091 AW246635 AL557526 BM714728 AA746058 AI627755 BM677917 AA378757 AI122701 BQ773251 NM_015404 BX329269 AI378439 BG478553 BM737698
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for DFNB31 (see all 11) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | · | 13d | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · |
|---|
|
| SP1: | | | | | | | | | | | | | - | | - | | - | | | | - | | - | | - | | | | - | | | | | | | | | | - | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | - | | | | - | | - | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | - | | - | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | - | | - | | - | | - | | | | | | | | | | | | | |
| ExUns: | 18b | ^ | 19 | ^ | 20 | ^ | 21 |
|---|
|
| SP1: | | | | | | | | | |
| SP2: | | | | | | | | | |
| SP3: | | | | | | | | | |
| SP4: | | | | | | | | | |
| SP5: | | | | | | | | |
ECgene alternative splicing isoforms for DFNB31
|
Expression
for DFNB31 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
| DFNB31 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCCTGGGGA
About this image
See DFNB31 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DFNB31
SOURCE GeneReport for Unigene cluster: Hs.93836
SABiosciences Custom PCR Arrays for DFNB31
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DFNB31
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DFNB31 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DFNB31 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DFNB31 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFNB31 |
Orthologs
for DFNB31 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 animals.
Orthologs for DFNB31 gene from 5/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
DFNB311 |
deafness, autosomal recessive 31 |
73.57(n)
71.2(a) |
|
429472 XM_427028.3 XP_427028.3 |
lizard
(Anolis carolinensis) |
Reptilia |
DFNB316 |
-- |
61(a) |
1 ↔ 1 |
GL344262.1(11099-24461) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.327162 |
Xenopus laevis transcribed sequence with moderate similarity more |
76.27(n) |
|
BJ640533.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
LOC1003347771 |
whirlin-like |
64.36(n)
67.69(a) |
|
100334777 XM_002665922.2 XP_002665968.2 |
fruit fly
(Drosophila melanogaster) |
Insecta |
dysc6 |
dyschronic |
20(a) |
1 ↔ 1 |
3L(13860914-13896336) |
ENSEMBL Gene Tree for DFNB31 (if available)
TreeFam Gene Tree for DFNB31 (if available) |
Paralogs
for DFNB31 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DFNB31 gene
- PDZD72 USH1C2
2 SIMAP similar genes for DFNB31 using alignment to 2 protein entries: WHRN_HUMAN (see all proteins):DLG4 PDZD11
DFNB31 for paralogs About GeneDecksing
|
Genomic Variants
for DFNB31 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 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DFNB31 (117164360 - 117267736 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for DFNB31
4 CNVs: 53071 70783 5263 5264
Human Gene Mutation Database (HGMD): DFNB31
Locus Specific Mutation Databases (LSDB): DFNB31
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DFNB31 |
|
Disorders
/ Diseases
for DFNB31 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
|
DFNB31 for disorders About GeneDecksing
OMIM gene information: 607928
OMIM disorders: 607084 611383
UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202
Defects in DFNB31 are the cause of deafness autosomal recessive type 31 (DFNB31) [MIM:607084]. DFNB31 is aform of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the innerear, the nerve pathways to the brain, or the area of the brain that receives sound information Defects in DFNB31 are the cause of Usher syndrome type 2D (USH2D) [MIM:611383]. USH is a geneticallyheterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age atonset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrometype 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment withnormal vestibular responses
15  diseases for DFNB31: About MalaCardsdeafness, autosomal recessive 31 usher syndrome usher syndrome, type iid pyeloureteritis cystica
usher syndrome type 2d cleft lip/palate usher syndrome type 3 sensorineural hearing loss
cleft lip bipolar affective disorder hearing loss retinitis pigmentosa
bipolar disorder retinitis colorectal cancer
3 diseases from the University of Copenhagen DISEASES database for DFNB31:Usher syndrome Nonsyndromic deafness Retinitis pigmentosa GeneTests: DFNB31
Usher Syndrome Type 2
Human Genome Epidemiology (HuGE) Navigator: DFNB31 (5 documents)
Export disorders for DFNB31 gene to outside databases
|
Publications
for DFNB31 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 DFNB31 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with DFNB31) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. (PubMed id 17171570)1, 2, 3, 9 Ebermann I.... Bolz H. (2007)
- Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. (PubMed id 12833159)1, 2, 3, 9 Mburu P.... Brown S.D. (2003)
- The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. (PubMed id 16434480)1, 2, 9 van Wijk E....Kremer H. (2006)
- MPP1 links the Usher protein network and the Crumbs protein complex in the retina. (PubMed id 17584769)1, 2 Gosens I.... Roepman R. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. (PubMed id 11973626)1, 2 Mustapha M....Petit C. (2002)
- Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (2000)
- Sequence variants of the DFNB31 gene among Usher synd rome patients of diverse origin. (PubMed id 20352026)1, 9 Aller E....MillA!n J.M. (2010)
- CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase. (PubMed id 12641734)1, 9 Yap C.C....Yano R. (2003)
- Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients. (PubMed id 19724906)1, 9 Toiyama Y....Kusunoki M. (2009)
|
External Searches for DFNB31 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DFNB31 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DFNB31 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing DFNB31 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 DFNB31 | Pharmacogenomics, SNPs, Pathways | | Hereditary hearing loss homepage | http://webhost.ua.ac.be/hhh/ |
|
| | |
About This Section
| Patent Information for DFNB31 gene:
Search GeneIP for patents involving DFNB31
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for DFNB31 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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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DFNB31 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DFNB31 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DFNB31 | | | OriGene Protein Over-expression Lysate for DFNB31 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DFNB31 | | OriGene 3'-UTR Clone for DFNB31 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DFNB31 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DFNB31 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DFNB31 | | OriGene Custom Protein Services for DFNB31 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DFNB31 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DFNB31 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DFNB31 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DFNB31 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DFNB31 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DFNB31 |
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| | | | Search Tocris compounds for DFNB31 |
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 | | | DFNB31 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFNB31 |
|  |  |  | | | | Search ThermoFisher Antibodies for DFNB31 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFNB31 |
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