Expression of CLCN7 in cancer - Summary - The Human Protein Atlas

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CLCN7

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TISSUE

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CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	CLCN7
Gene description	Chloride channel, voltage-sensitive 7
Protein class	Disease related genes Potential drug targets Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	5
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

General cytoplasmic expression at variable levels.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Supported based on 2 antibodies. HPA043019 , HPA043586
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PROGNOSTIC SUMMARY
Prognostic marker in testis cancer (unfavourable) and head and neck cancer (favourable).
Testis cancer p<0.001 Head and neck cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

Colorectal cancer

Prostate cancer

STAINING SUMMARY

HPA043019	HPA043586

GENE INFORMATION
Gene name	CLCN7 (HGNC Symbol)
Synonyms	CLC-7, CLC7, OPTA2, PPP1R63
Description	Chloride channel, voltage-sensitive 7 (HGNC Symbol)
Entrez gene summary	The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
Chromosome	16
Cytoband	p13.3
Chromosome location (bp)	1444934 - 1475580
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000103249 (version 83.38)
Entrez gene	1186
UniProt	P51798 (UniProt - Evidence at protein level)
neXtProt	NX_P51798
Antibodypedia	CLCN7 antibodies

PROTEIN BROWSER

CLCN7-001	CLCN7-002	CLCN7-009	CLCN7-010	CLCN7-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CLCN7-001 ENSP00000372193 ENST00000382745	P51798 [Direct mapping] H(+)/Cl(-) exchange transporter 7 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005216 [ion channel activity] GO:0005247 [voltage-gated chloride channel activity] GO:0005254 [chloride channel activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005765 [lysosomal membrane] GO:0006810 [transport] GO:0006821 [chloride transport] GO:0009268 [response to pH] GO:0015297 [antiporter activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0031410 [cytoplasmic vesicle] GO:0034220 [ion transmembrane transport] GO:0055085 [transmembrane transport] GO:1902476 [chloride transmembrane transport] GO:1903959 [regulation of anion transmembrane transport] Show all	805 aa 88.7 kDa	No	>9
CLCN7-002 ENSP00000262318 ENST00000262318	H0Y2M6 [Direct mapping] Chloride channel 7, isoform CRA_c; H(+)/Cl(-) exchange transporter 7 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005216 [ion channel activity] GO:0005247 [voltage-gated chloride channel activity] GO:0006821 [chloride transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0034220 [ion transmembrane transport] GO:0055085 [transmembrane transport] GO:1903959 [regulation of anion transmembrane transport] Show all	901 aa 97.2 kDa	No	>9
CLCN7-009 ENSP00000454845 ENST00000564568	H3BNG8 [Direct mapping] H(+)/Cl(-) exchange transporter 7 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005216 [ion channel activity] GO:0005247 [voltage-gated chloride channel activity] GO:0006821 [chloride transport] GO:0016021 [integral component of membrane] GO:0034220 [ion transmembrane transport] GO:0055085 [transmembrane transport] GO:1903959 [regulation of anion transmembrane transport] Show all	119 aa 13.5 kDa	No	1
CLCN7-010 ENSP00000461009 ENST00000569851	I3L470 [Direct mapping] H(+)/Cl(-) exchange transporter 7 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005216 [ion channel activity] GO:0005247 [voltage-gated chloride channel activity] GO:0006821 [chloride transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0034220 [ion transmembrane transport] GO:0055085 [transmembrane transport] GO:1903959 [regulation of anion transmembrane transport] Show all	216 aa 23.6 kDa	No	3
CLCN7-201 ENSP00000410907 ENST00000448525	P51798 [Direct mapping] H(+)/Cl(-) exchange transporter 7 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005216 [ion channel activity] GO:0005247 [voltage-gated chloride channel activity] GO:0005254 [chloride channel activity] GO:0005524 [ATP binding] GO:0005765 [lysosomal membrane] GO:0006810 [transport] GO:0006821 [chloride transport] GO:0015297 [antiporter activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0034220 [ion transmembrane transport] GO:0055085 [transmembrane transport] GO:1902476 [chloride transmembrane transport] GO:1903959 [regulation of anion transmembrane transport] Show all	781 aa 86 kDa	No	>9

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