COCH Gene

Aliases
for COCH gene

Previous GC identifers: GC14P028719 GC14P025131 GC14P029333 GC14P030413 GC14P011460

Summaries
for COCH gene

Genomic Views
for COCH gene

RefSeq DNA sequence:

NC_000014.8  NC_018925.1  NT_026437.12  

SwitchGear Promoter luciferase reporter plasmid: COCH promoter sequence

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

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


GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P031343:  view genomic region     (about GC identifiers)

Proteins
for COCH gene

1 PDB 3D structure from and Proteopedia for COCH:

1JBI (3D)    

Explore the universe of human proteins at neXtProt for COCH: NX_O43405

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for COCH (Cochlin)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for COCH
	GenScript Custom Purified and Recombinant Proteins Services for COCH
	Novus Biologicals COCH Protein Novus Biologicals COCH Lysate
	Sino Biological Recombinant Protein for COCH
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for COCH

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

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for COCH (Cochlin)
	Browse OriGene Antibodies OriGene Custom Antibody Services for COCH
	GenScript Superior Antibodies for COCH
	Novus Biologicals COCH Antibodies
	Search for Antibodies for COCH at Abcam
	Uscn Antibodies for COCH
	Search ThermoFisher Antibodies for COCH

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for COCH
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for COCH

Protein Domains /
Families
for COCH gene

ProtoNet protein and cluster: O43405

Function
for COCH gene

miRNA Products:		OriGene 3'-UTR Clone (see all 2): COCH Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COCH
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate COCH:
		hsa-miR-3163 hsa-miR-137 hsa-miR-4263 hsa-miR-1267 hsa-miR-3658 hsa-miR-489 hsa-miR-4302 hsa-miR-3121-3p
		SwitchGear 3'UTR luciferase reporter plasmid: COCH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COCH (see all 7) OriGene shRNA RFP: COCH OriGene siRNA: COCH
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COCH

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for COCH

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 COCH (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COCH (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): COCH (NM_001135058)
		Sino Biological Human cDNA Clone for COCH
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COCH
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COCH

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

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COCH

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

(inferred from 3 alleles) (MGI details for Coch)

Pathways & Interactions
for COCH gene

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

Drugs & Compounds
for COCH gene

Transcripts
for COCH gene

Expression
for COCH gene

COCH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTACTAAAT

Stem Cell Differentiation: 4 LifeMap Cells
	Name			Category
	PureStem™ progenitor T42 (Embryonic Progenitor Cell)
	PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)			Adipose, Bone, Cartilage
	PureStem™ progenitor T36 (Embryonic Progenitor Cell)
	PureStem™ progenitor U31 (Embryonic Progenitor Cell)
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COCH Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COCH
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COCH
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COCH

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COCH

Orthologs
for COCH gene

Paralogs
for COCH gene

Paralogs for COCH gene

VWA1²  MATN4²  COL14A1²  COL9A1²  MATN3²  MATN2²  COL12A1²  VIT²  

COL9A3²  COL9A2²  COL20A1²  VWA2²  COL21A1²  MATN1²  

5 SIMAP similar genes for COCH using alignment to 9 protein entries:     COCH_HUMAN (see all proteins):

COL21A1    VIT    COL6A5    COL6A6    MATN2

COCH for paralogs           About GeneDecksing

Genomic Variants
for COCH gene

10/400 NCBI SNPs in COCH are shown (see all 400)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1219089321,2	C	pathogenic	11476090(+)	CATTTA/G/TTAGAG	6	Y C F	mis1		0	--	--	--	--
rs1110331891,2	C,	probable-non-pathogenic	11464134(+)	CCCTT-/TCCTCC	2	--	int1		0	--	--	--	--
rs80080871,2	C,F,H,	--	11459176(+)	ATATAG/CCATCA	2	--	us2k1		9		NS EA NA CSA WA	550
rs740426011,2	C,	--	11459771(+)	GTTAGC/TGATTG	2	--	us2k1		1		WA	2
rs359187121,2	C	--	11459824(+)	GGAGA-/GATCATT	2	--	us2k1		0	--	--	--	--
rs756317151,2	F,	--	11460042(+)	GGTCGC/GCTGTC	2	--	us2k1		2		WA NA	238
rs799523061,2	C,F,	--	11460269(+)	CGCGTG/AGCTCT	2	--	us2k1		1		WA	118
rs284000191,2	C,F,	--	11460614(+)	GTCGGG/AGCCGC	2	--	us2k1		2		NS	94
rs284000211,2	C,F,	--	11460731(+)	CGCGCC/TGGCCT	2	--	us2k1 tfbs3		3		NS EA	214
rs284000221,2	C,	--	11461070(+)	CGATTT/GGCCGC	2	--	int1 ut51		5		NS NA WA	202

HapMap Linkage Disequilibrium report for COCH (31343720 - 31364271 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for COCH
     1 CNV: 7031
Human Gene Mutation Database (HGMD): COCH

Locus Specific Mutation Databases (LSDB): COCH

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COCH

DNA2.0 Custom Variant and Variant Library Synthesis for COCH

Disorders / Diseases
for COCH gene

20 diseases for COCH

7 Novoseek disease relationships for COCH gene    About this table

Publications
for COCH gene

PubMed articles for COCH gene, integrated from 9 sources (see all 79): (articles sorted by number of sources associating them with COCH)

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

1. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (PubMed id 9806553)^{1, 2, 3} Robertson N.G.... Seidman J.G. (1998)
2. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. (PubMed id 12843317)^{1, 2, 9} Robertson N.G.... Morton C.C. (2003)
3. Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. (PubMed id 12928864)^{1, 2, 9} Grabski R....Sztul E. (2003)
4. Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear. (PubMed id 17926100)^{1, 2, 9} Kommareddi P.K.... Carey T.E. (2007)
5. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. (PubMed id 9931344)^{1, 2, 9} de Kok Y.J.M.... Cremers F.P.M. (1999)
6. High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene. (PubMed id 10400989)^{1, 2, 9} Fransen E.... Van Camp G. (1999)
7. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. (PubMed id 11295836)^{1, 2, 9} Kamarinos M.... Dahl H.-H.M. (2001)
8. NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. (PubMed id 11574466)^{1, 2, 9} Liepinsh E.... Otting G. (2001)
9. Cochlin induced TREK-1 co-expression and annexin A2 s ecretion: role in trabecular meshwork cell elongation and motility. (PubMed id 21886777)^{1, 2} Goel M....Bhattacharya S.K. (2011)
10. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease. (PubMed id 14512963)^{1, 2} Usami S.... Van Camp G. (2003)

External Searches for COCH gene

Genome Databases showing COCH gene

Other Databases showing COCH gene

Specialized Databases showing COCH gene

Products
for COCH gene