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FLASH GENE

Symbol

CLCN4

contributors: mct - updated : 22-09-2021

HGNC name	chloride channel 4
HGNC id	2022

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRX49 mental retardation, 49
Location	Xp22.2      Physical location : 10.124.984 - 10.205.697
Synonym symbol(s)	CLC-4, CLC4, ClC-4A, MRX15, MRX49, MRXSRC, MGC163150

DNA

TYPE	functioning gene
STRUCTURE	80.69 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

close to APXL and OA1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001830 13 - 6759 NP_001821 - 760 - 2018 27550844 NM_001256944 11 - 6504 NP_001243873 - 666 - 2018 27550844

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 Cardiovascular heart         Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve alpha helical membrane spanning domains
	cytoplasmic, N and C terminal domains

HOMOLOGY

interspecies

ortholog to rattus Clcn4-2

Homologene

FAMILY

chloride channel family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome

basic FUNCTION	chloride voltage-gated channel activity
	functioning as electrogenic exchanger, carrying a substantial amount of protons across the plasma membrane when activated by positive voltages
	contributing to endosomal acidification and trafficking
	stimulating copper incorporation into ceruloplasmin
	may contribute to the pathogenesis of neuronal disorders
	may compensate the charge accumulation by endosomal proton pumps
	CLCN4 exhibits pronounced time- and voltage-dependent changes in current amplitude
	CLCN4 gating is controlled by at least two distinct processes with different voltage dependences

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	essential role for CLCN4 in the modulation of TFRC accessibility at the cell surface through its role in endosomal acidification
	unique oligomerization properties of CLCN4 permit regulated targeting of ClCN4 to various endosomal compartment systems via expression of different CLCN3 splice variants

cell & other

REGULATION

activated by

positive voltages

ASSOCIATED DISORDERS

corresponding disease(s)

MRX49

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS