CLCN7

CLCN7

Identifiers

CLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7, HOD

External IDs

OMIM: 602727 MGI: 1347048 HomoloGene: 56546 GeneCards: CLCN7

Gene location (Human)

Chr.	Chromosome 16 (human)^[1]

Band	16p13.3	Start	1,444,934 bp^[1]
Band	16p13.3	End	1,475,084 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 17 (mouse)^[2]

Band	17 A3.3\|17 12.53 cM	Start	25,352,365 bp^[2]
Band	17 A3.3\|17 12.53 cM	End	25,381,078 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

stromal cell of endometrium

right lobe of thyroid gland

left lobe of thyroid gland

spleen

anterior pituitary

body of stomach

canal of the cervix

gastric mucosa

upper lobe of left lung

monocyte

Top expressed in

superior surface of tongue

gallbladder

entorhinal cortex

ankle joint

proximal tubule

retinal pigment epithelium

iris

lacrimal gland

spermatocyte

yolk sac

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	nucleotide binding ion channel activity antiporter activity ATP binding chloride channel activity voltage-gated chloride channel activity protein binding chloride transmembrane transporter activity transmembrane transporter activity
Cellular component	integral component of membrane lysosome cytoplasmic vesicle lysosomal membrane membrane nucleoplasm intracellular membrane-bounded organelle
Biological process	ion transmembrane transport chloride transport ion transport regulation of anion transmembrane transport response to pH transmembrane transport chloride transmembrane transport transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


1186


26373

Ensembl


ENSG00000103249


ENSMUSG00000036636

UniProt


P51798


O70496

RefSeq (mRNA)


NM_001114331 NM_001287


NM_011930 NM_001317404

RefSeq (protein)


NP_001107803 NP_001278


NP_001304333 NP_036060

Location (UCSC)

Chr 16: 1.44 – 1.48 Mb

Chr 17: 25.35 – 25.38 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Chloride channel 7 alpha subunit also known as H⁺/Cl⁻ exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene.^[5] In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.^[6]^[7]

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Transcription

Clinical significance

Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000103249 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036636 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: CLCN7 chloride channel 7".
^ Meadows NA, Sharma SM, Faulkner GJ, Ostrowski MC, Hume DA, Cassady AI (2007). "The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor". J. Biol. Chem. 282 (3): 1891–904. doi:10.1074/jbc.M608572200. PMID 17105730.
^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. S2CID 24698373.
^ Coudert AE, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, Teti A, de Vernejoul MC (2014). "Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology" (PDF). Lab. Invest. 94 (3): 275–85. doi:10.1038/labinvest.2013.140. PMID 24336069. S2CID 5097233.

External links

GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis
CLCN7+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Human CLCN7 genome location and CLCN7 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

This page was last edited on 26 January 2024, at 17:29

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Transcription

Clinical significance

See also

References

Further reading

External links