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DFNB31 Gene

protein-coding GIFtS: 59

GC09M116204

deafness, autosomal recessive 31
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
CIP98 ^¹, ², ⁵
DKFZp434N014 ^²
KIAA1526 ^², ³, ⁵
OTTHUMP00000021976 ^²
OTTHUMP00000021978 ^²
RP11-9M16.1 ^²
USH2D ^¹, ², ⁵
WHRN ^¹, ², ⁵
WI ^²
whirlin ^²

Descriptions
Autosomal recessive deafness type 31 protein ^³
CASK-interacting protein CIP98 ^²
deafness, autosomal recessive 31 ^²

External Ids
HGNC: 16361¹
Entrez Gene: 25861²
UniProtKB: Q9P202³
Ensembl: ENSG00000095397⁷

Search outside databases for aliases for DFNB31 gene

Previous GC identifers: GC09U990192 GC09M112541 GC09M114243

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

EntrezGene summary for DFNB31:

In rat brain, Cip98 interacts with a calmodulin-dependent serine kinase, CASK (MIM 300172), and may

be involved in the formation of scaffolding protein complexes that facilitate synaptic

transmission in the central nervous system (CNS) (Yap et al., 2003 [PubMed 12641734]). Mutations

in this gene, also known as WHRN, cause DFNB31 (MIM 607084).[supplied by OMIM]

UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202

Function: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the

organ of Corti in the inner ear (By similarity)

Gene Wiki entry for DFNB31

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the DFNB31 gene

Entrez Gene cytogenetic band: 9q32-q34 Ensembl cytogenetic band: 9q32 HGNC cytogenetic band: 9q32-q34

DFNB31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M116204: (about GC identifiers)

Start:	116,204,181 bp from pter
End:	116,307,557 bp from pter
Size:	103,377 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000009.10 NT_008470.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202 (See protein sequence)

Recommended Name: Whirlin

Size: 907 amino acids; 96558 Da

Subunit: Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain.

Binding to MYO15A is necessary for localization of WHRN to stereocilia tips. Interacts with USH2A,

GPR98/MASS1 and LRRC4C/NGL1

Subcellular location: Cytoplasm (By similarity). Cell projection, stereocilium (By similarity).

Cell projection, growth cone (By similarity). Note=Detected at the level of stereocilia in inner

outer hair cells of the cochlea and vestibule. Co-localizes with the growing ends of actin

filaments (By similarity)

PDB structures from and Proteopedia :

1UEZ (3D)

1UF1 (3D)

1UFX (3D)

Secondary accessions: A5PKU1 A5PKZ9 Q5TAU9 Q5TAV0 Q96MZ9 Q9H9F4 Q9UFZ3

Alternative splicing: 4 isoforms: Q9P202-1 Q9P202-2 Q9P202-3 Q9P202-4

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001077354.1 NP_056219.2

ENSEMBL proteins:

ENSP00000354623 ENSP00000363172 ENSP00000363170 ENSP00000265134

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (DFNB31)
	Human Recombinant Proteins from Abnova (DFNB31)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	16434480
GO:0032420	stereocilium	ISS	--
GO:0042995	cell projection	IEA	--

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Antibodies for DFNB31:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for DFNB31
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (DFNB31), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (DFNB31)
	Novus Biologicals Antibodies for DFNB31

Assays for DFNB31:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry Q9P202

ProtoNet protein and cluster: Q9P202

UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202

Similarity: Contains 3 PDZ (DHR) domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (DFNB31)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (DFNB31)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): XM_027012

Applied Biosystems Silencer® siRNAs for DFNB31

Sigma-Aldrich siRNA for DFNB31

Sigma-Aldrich shRNA for DFNB31

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001083885
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001083885
untagged cDNA clones in CMV expression vector (see all 2): NM_001083885

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_015404

UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202

Function: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the

organ of Corti in the inner ear (By similarity)

13 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Whrn):

	adipose tissue	behavior/neurological	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	liver/biliary system
nervous system	renal/urinary system	reproductive system

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008022	protein C-terminus binding	IPI	16434480

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/8 Interacting proteins for DFNB31 (ENSP00000354623³) via UniProtKB, MINT, and/or STRING (see all 8 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
USH2A	ENSP00000355910³	STRING (score=.989)
CASK	ENSP00000367405³	STRING (score=.985)
MYO15A	ENSP00000205890³	STRING (score=.985)
MYO7A	ENSP00000351105³	STRING (score=.985)
GUK1	ENSP00000355680³	STRING (score=.97)

About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001895	retina homeostasis	IMP	17171570
GO:0007601	visual perception	IEA	--
GO:0007605	sensory perception of sound	IMP	17171570
GO:0050896	response to stimulus	IEA	--
GO:0060122	inner ear receptor stereocilium organization	ISS	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for DFNB31
1 Novoseek chemical compound relationship for DFNB31 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
guanylate	49.20	2	12641734 (1), 16829577 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (DFNB31)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (DFNB31)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): XM_027012

Sigma-Aldrich siRNA for DFNB31

Sigma-Aldrich shRNA for DFNB31

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001083885 NM_015404

REFSEQ mRNAs for DFNB31 gene (2 alternative transcripts):

NM_001083885.1 NM_015404.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001083885 NM_015404

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001083885
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001083885
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001083885

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.121168282 DT.91741712 DT.91741713 DT.95232238

24/96 AceView cDNA sequences (see all 96 ):

AI669619 CA428581 AW246635 BG983396 AK056190 AL557526 BQ636975 AA746058

BM725795 NM_015404 AA938876 AI627755 BQ772091 AA317697 BM677917 BE890168

BQ773251 AI122701 AA378757 BM714728 BX329269 BQ668361 BI767551 BC011918

highest scoring ESTs for DFNB31:

AA813332 AB040959 AK056190 AL555201 BC014524 BE890168 BF969269 BM737698 BM738414 BM743995

Unigene Cluster for DFNB31:

Deafness, autosomal recessive 31

Hs.93836 [show with all ESTs]

Unigene Representative Sequence: BC014524

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for DFNB31 (see all 11 )

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:

About this scheme

ECgene alternative splicing isoforms for DFNB31

4 Ensembl transcripts including schematic representations:

ENST00000362057 ENST00000374059 ENST00000374057 ENST00000265134

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

DFNB31 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for DFNB31

¹ / ² / ³

5 probe-sets matching DFNB31 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
47553_at²^{, 3}	U133-B	1	1.00	1.00	1.00	1.00	AA813332	0.80	1.00	0.91	1
47553_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA813332	0.80	1.00	0.91	1
221887_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE045998	0.40	1.00	0.76	1
47553_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
221887_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks DFNB31 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CCCCTGGGGA

SOURCE GeneReport for Unigene cluster: Hs.93836

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for DFNB31 gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	DFNB31¹	--	deafness, autosomal recessive 31	87.36(n) 87.65(a)	612588 XM_850321.1 XP_855414.1
chimpanzee (Pan troglodytes)	DFNB31¹	--	deafness, autosomal recessive 31	99.01(n) 98.4(a)	742628 XM_001145880.1 XP_001145880.1
rat (Rattus norvegicus)	Cip98¹	--	CASK-interacting protein CIP98	86.1(n) 87.94(a)	313255 NM_181088.1 NP_851602.1
mouse (Mus musculus)	Whrn^{1, 5}	4 (31.40 cM)⁵	whirlin^{1, 5}	86.06(n)¹ 88.41(a)¹	73750¹ NM_028640.1¹ NP_082916.1¹ AK004110⁵ AK021254⁵ (see all 23)
chicken (Gallus gallus)	DFNB31¹	--	deafness, autosomal recessive 31	69.14(n) 62.23(a)	429472 XM_427028.2 XP_427028.2

About this table Species with no ortholog for DFNB31

ENSEMBL Gene Tree for DFNB31

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

Paralogs for DFNB31 gene

PDZD7² USH1C²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/777 NCBI SNPs in DFNB31 are shown (see all 777 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 328)

AB	SNP ID	Valid	Chr 9 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs12339210^1,2	A,C,F,H	116210062(+)	`ATCTGG/CGAGGG`	2	A/P	mis¹		13	EU EA WA NA	1330
	rs2274159^1,2	A,C,F,H	116206067(+)	`TGGACA/GCCGAC`	2	V/A	mis¹		11	EA EU WA NA	2520
	rs4978584^1,2	A,C,F,H	116226533(+)	`GGTGGC/TGTGTT`	2	A/T	mis¹ ese³		5	EU EA WA NA	482
	rs2296262^1,2	A,C,F,H	116305227(-)	`GTGCCG/ATTCAG`	2	--	ut5¹ int¹ ese³		9	EA EU WA	2310
	rs2274158^1,2	A,C,F,H	116206027(+)	`CTCTCG/TTTCCG`	2	N/K	mis¹ ese³		9	EA EU WA	2338
	rs10759694^1,2	A,C,F,H	116203827(+)	`cgattG/Aattgg`	2	--	ng5¹		8	EU EA WA	838
	rs10817605^1,2	A,F,H	116203684(+)	`tgtacG/Cccctg`	2	--	ng5¹		4	EU EA WA	420
	rs6478078^1,2	C,F,H	116206159(+)	`GAGAGC/GTGGGA`	2	H/Q	mis¹ ese³		8	EU EA WA	836
--	rs2297814^1,2	A,C,F	116306993(-)	`GCTCCC/TGGGGA`	2	--	ut5¹ ng3¹ ese³		1	EA	1118
	rs4527950^1,2	A,C,F	116307293(+)	`AAGCTG/TACCTG`	2	--	ng3¹ ut5¹		4	NA EA	362

About this table

HapMap Linkage Disequilibrium images for DFNB31 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 607928 disorders: 607084 611383

UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202

Defects in WHRN are the cause of non-syndromic sensorineural deafness autosomal recessive

type 31 (DFNB31) [MIM:607084]. DFNB31 is a form of sensorineural hearing loss. Sensorineural

deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the

brain, or the area of the brain that receives sound information

Defects in WHRN are the cause of Usher syndrome type 2D (USH2D) [MIM:611383]. USH is a

genetically heterogeneous condition characterized by the association of retinitis pigmentosa and

sensorineural deafness. Age at onset and differences in auditory and vestibular function

distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3

(USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular

responses

GeneTests: DFNB31

Usher Syndrome Type 2

Human Gene Mutation Database: DFNB31
Human Genome Epidemiology Navigator: DFNB31 (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/22 PubMed articles for DFNB31 gene (see all 22 ):

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, 4} 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, 4} 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, 3, 4} van Wijk E....Kremer H. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. (PubMed id 11973626)^{3, 4} 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)^{3, 4} Nagase T....Ohara O. (2000)
CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase. (PubMed id 12641734)^{1, 3} Yap C.C....Yano R. (2003)
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. (PubMed id 15841483)^{1, 4} Tlili A.... Ayadi H. (2005)
Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PubMed id 19308021)³ Ollila H.M....Paunio T. (2009)
Automated phosphoproteome analysis for cultured cancer cells by two- dimensional nanoLC-MS using a calcined titania/C18 biphasic column. (PubMed id 18187866)⁴ Imami K.... Ishihama Y. (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, and/or H-InvDB)
About This Section

Entrez Gene: 25861	HGNC: 16361	AceView: DFNB31	Ensembl:ENSG00000095397	euGenes: HUgn25861
ECgene: DFNB31	H-InvDB: DFNB31

(According to HUGE)
About This Section

HUGE: KIAA1526

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

Name	Description
Hereditary hearing loss homepage	http://webhost.ua.ac.be/hhh/

Licensable Technologies for DFNB31
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for DFNB31:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for DFNB31-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for DFNB31		Antibodies for DFNB31
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for DFNB31		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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Antibodies for DFNB31

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
DFNB31 Gene at Home site.
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DFNB31 Gene

protein-coding GIFtS: 59

Aliases &
Descriptions
for DFNB31

Summaries
for DFNB31

Genomic Location
for DFNB31

Proteins
for DFNB31

Protein Domains/
Families
for DFNB31

Gene Function
for DFNB31

Pathways & Interactions
for DFNB31

Drugs & Compounds
for DFNB31

Transcripts
for DFNB31

Expression
for DFNB31

Orthologs
for DFNB31

Paralogs
for DFNB31

SNPs/Variants
for DFNB31

Disorders & Mutations
for DFNB31

Medical News
for DFNB31

Publications
for DFNB31

Search for DFNB31

Genome Databases showing DFNB31

Other Databases showing DFNB31

Specialized Databases showing DFNB31

Licensable Technologies
for DFNB31

Services
for DFNB31

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

DFNB31 Gene

protein-coding GIFtS: 59

Aliases & Descriptionsfor DFNB31

Summariesfor DFNB31

Genomic Locationfor DFNB31

Proteinsfor DFNB31

Protein Domains/Familiesfor DFNB31

Gene Functionfor DFNB31

Pathways & Interactionsfor DFNB31

Drugs & Compoundsfor DFNB31

Transcriptsfor DFNB31

Expression for DFNB31

Orthologsfor DFNB31

Paralogsfor DFNB31

SNPs/Variantsfor DFNB31

Disorders & Mutationsfor DFNB31

Medical Newsfor DFNB31

Publicationsfor DFNB31

Search for DFNB31

Genome Databases showing DFNB31

Other Databases showing DFNB31

Specialized Databases showing DFNB31

Licensable Technologiesfor DFNB31

Servicesfor DFNB31

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for DFNB31

Summaries
for DFNB31

Genomic Location
for DFNB31

Proteins
for DFNB31

Protein Domains/
Families
for DFNB31

Gene Function
for DFNB31

Pathways & Interactions
for DFNB31

Drugs & Compounds
for DFNB31

Transcripts
for DFNB31

Expression
for DFNB31

Orthologs
for DFNB31

Paralogs
for DFNB31

SNPs/Variants
for DFNB31

Disorders & Mutations
for DFNB31

Medical News
for DFNB31

Publications
for DFNB31

Licensable Technologies
for DFNB31

Services
for DFNB31