Tissue expression of COCH - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	COCH
Gene description	Cochlin
Protein class	Disease related genes Plasma proteins Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Group enriched (pancreas, prostate, seminal vesicle)
GTEx:	Tissue enhanced (caudate)
FANTOM5:	Group enriched (caudate, pancreas)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Group enriched (pancreas, prostate, seminal vesicle)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (caudate)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Group enriched (caudate, pancreas)

GENE INFORMATION
Gene name	COCH (HGNC Symbol)
Synonyms	COCH-5B2, DFNA31, DFNA9
Description	Cochlin (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]
Chromosome	14
Cytoband	q12
Chromosome location (bp)	30874514 - 30895065
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000100473 (version 83.38)
Entrez gene	1690
UniProt	O43405 (UniProt - Evidence at protein level)
neXtProt	NX_O43405
Antibodypedia	COCH antibodies

PROTEIN BROWSER

COCH-003	COCH-005	COCH-006	COCH-007	COCH-008	COCH-011	COCH-012

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
COCH-003 ENSP00000451528 ENST00000475087	O43405 [Direct mapping] Cochlin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005518 [collagen binding] GO:0005578 [proteinaceous extracellular matrix] GO:0008360 [regulation of cell shape] GO:0031012 [extracellular matrix] GO:0070062 [extracellular exosome] Show all	494 aa 53.2 kDa	Yes	0
COCH-005 ENSP00000379862 ENST00000396618	O43405 [Direct mapping] Cochlin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005518 [collagen binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007605 [sensory perception of sound] GO:0008360 [regulation of cell shape] GO:0031012 [extracellular matrix] GO:0042742 [defense response to bacterium] GO:0045089 [positive regulation of innate immune response] GO:0070062 [extracellular exosome] Show all	550 aa 59.5 kDa	Yes	0
COCH-006 ENSP00000216361 ENST00000216361	O43405 [Direct mapping] Cochlin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005518 [collagen binding] GO:0005578 [proteinaceous extracellular matrix] GO:0008360 [regulation of cell shape] GO:0031012 [extracellular matrix] GO:0070062 [extracellular exosome] Show all	550 aa 59.5 kDa	Yes	0
COCH-007 ENSP00000451713 ENST00000460581	G3V4C4 [Direct mapping] Cochlin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		438 aa 48.1 kDa	No	0
COCH-008 ENSP00000452284 ENST00000468826	H0YJW4 [Direct mapping] Cochlin Show all	SCAMPI predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		434 aa 48 kDa	No	0
COCH-011 ENSP00000452569 ENST00000555881	G3V5X3 [Direct mapping] Cochlin Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		202 aa 21.7 kDa	Yes	0
COCH-012 ENSP00000452541 ENST00000556908	G3V5V4 [Direct mapping] Cochlin Show all	SignalP predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		193 aa 20.4 kDa	No	0