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FLASH GENE

Symbol

COCH

contributors: mct - updated : 29-03-2023

HGNC name	coagulation factor C homolog, cochlin (Limulus polyphemus)
HGNC id	2180

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNA9 neurosensory deafness 9 DFNB110 deafness, autosomal recessive 110
Location	14q12      Physical location : 31.343.740 - 31.359.822
Synonym name	cochlin
Synonym symbol(s)	D14S564E, COCH-5B2, COCH5B2

DNA

TYPE	functioning gene
STRUCTURE	21.06 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	variants 1 and 2 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001135058 11 - 2850 NP_001128530 59 550 - 1994 7829101 NM_004086 12 - 2536 NP_004077 - 550 - 1994 7829101 NM_001347720 11 - 3055 NP_001334649 - 615 - 1994 7829101

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear inner cochlea   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	inner ear structure, cochlea vestibular structure, retina, speen and uterus

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal potential signal peptide
	a region of limulus factor C homology (FCH or LCCL)
	two von Willebrand factor type A-like domains separated by intervening domains
	C-terminal von Willebrand type A domain of cochlin having affinity for type II collagen confirms earlier suggestions that cochlin might interact with this collagen and that such an interaction might play a crucial role in the structural homeostasis of the vestibule

conjugated

GlycoP

isoforms

Precursor

HOMOLOGY

interspecies

ortholog to murine Coch

intraspecies

homolog to VIT

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	in the extracellular matrix of cochlea
	is secreted from small specialized regions of vestibular system epithelia, and cells of these regions secrete Cochlin both apically into the ear lumen and basally into the basal lamina

basic FUNCTION	may be involved in defense against bacteria infections
	putative role in the architecture of cochlea by binding to components of the extracellular matrix of the sensory organ
	constituting the major non-collagen component of the extra-cellular matrix of the inner ear

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

major component of the cochlear extracellular matrix

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

regulated by leukemia inhibitory factor (LIF) in the uterus at the time of embryo implantation

ASSOCIATED DISORDERS

corresponding disease(s)

DFNA9 , DFNB110

related resource

Hereditary Hearing Loss Homepage

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function results in conductive hearing loss that protects against physiologic and molecular effects of noise trauma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS