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Aliases for CLCN7 Gene

Aliases for CLCN7 Gene

  • Chloride Voltage-Gated Channel 7 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 63 2 3
  • Chloride Channel, Voltage-Sensitive 7 2 3
  • Chloride Channel 7 Alpha Subunit 3 4
  • Chloride Channel Protein 7 3 4
  • H(+)/Cl(-) Exchange Transporter 7 3
  • Chloride Channel 7 2
  • PPP1R63 3
  • CLC-7 3
  • OPTA2 3
  • OPTB4 3
  • ClC-7 4
  • CLC7 3

External Ids for CLCN7 Gene

Previous GeneCards Identifiers for CLCN7 Gene

  • GC16M001512
  • GC16M001435
  • GC16M001494
  • GC16M001421

Summaries for CLCN7 Gene

Entrez Gene Summary for CLCN7 Gene

  • 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]

GeneCards Summary for CLCN7 Gene

CLCN7 (Chloride Voltage-Gated Channel 7) is a Protein Coding gene. Diseases associated with CLCN7 include Osteopetrosis, Autosomal Dominant 2 and Osteopetrosis, Autosomal Recessive 4. Among its related pathways are Hepatic ABC Transporters and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and antiporter activity. An important paralog of this gene is CLCN6.

UniProtKB/Swiss-Prot for CLCN7 Gene

  • Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.

Gene Wiki entry for CLCN7 Gene

Additional gene information for CLCN7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLCN7 Gene

Genomics for CLCN7 Gene

GeneHancer (GH) Regulatory Elements for CLCN7 Gene

Promoters and enhancers for CLCN7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001473 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 673.9 +0.6 621 2.3 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF766 CLCN7 ENSG00000260646 UBE2I IFT140 WDR90 TELO2 ENSG00000261505 ENSG00000261123 CRAMP1 JMJD8
GH16J001308 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 46.8 +164.8 164826 5.2 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 UBE2I LOC102723815 WDR90 CRAMP1 ENSG00000261505 TELO2 ENSG00000260051 E4F1 TSC2 IFT140
GH16J002266 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 45.8 -792.6 -792632 3.2 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 RNPS1 ENSG00000260778 GC16M002267 GC16M002266 ZNF263 ENSG00000260051 ENSG00000261505 E4F1 AMDHD2 TSC2
GH16J001677 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 29.6 -204.0 -204036 4.3 HDGF PKNOX1 ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B YY1 ZNF207 ZNF143 JPT2 GC16M001677 PIR31117 TELO2 TBL3 CRAMP1 ENSG00000260051 CLCN7 ERVK13-1 TSC2
GH16J002147 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.2 -680.2 -680210 17.4 CLOCK MLX ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 TRAF7 SNORD60 SNHG19 ENSG00000281010 GC16M002158 GC16M002156 RAB26 ENSG00000261505 CRAMP1 ENSG00000260051
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLCN7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CLCN7 gene promoter:
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • c-Ets-1
  • ZID
  • Pax-5
  • AML1a
  • POU2F1
  • POU2F1a
  • AREB6

Genomic Locations for CLCN7 Gene

Genomic Locations for CLCN7 Gene
chr16:1,444,933-1,475,580
(GRCh38/hg38)
Size:
30,648 bases
Orientation:
Minus strand
chr16:1,494,935-1,525,581
(GRCh37/hg19)
Size:
30,647 bases
Orientation:
Minus strand

Genomic View for CLCN7 Gene

Genes around CLCN7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCN7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCN7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLCN7 Gene

Proteins for CLCN7 Gene

  • Protein details for CLCN7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51798-CLCN7_HUMAN
    Recommended name:
    H(+)/Cl(-) exchange transporter 7
    Protein Accession:
    P51798
    Secondary Accessions:
    • A6NEJ7
    • A8K5T9
    • A8K7X1
    • B3KPN3
    • E9PDB9
    • Q9NYX5

    Protein attributes for CLCN7 Gene

    Size:
    805 amino acids
    Molecular mass:
    88679 Da
    Quaternary structure:
    • Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.
    Miscellaneous:
    • The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity).

    Alternative splice isoforms for CLCN7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLCN7 Gene

Post-translational modifications for CLCN7 Gene

  • Ubiquitination at posLast=274274 and Lys88
  • Modification sites at PhosphoSitePlus

Other Protein References for CLCN7 Gene

Antibody Products

  • Abcam antibodies for CLCN7
  • Santa Cruz Biotechnology (SCBT) Antibodies for CLCN7

No data available for DME Specific Peptides for CLCN7 Gene

Domains & Families for CLCN7 Gene

Gene Families for CLCN7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

P51798

UniProtKB/Swiss-Prot:

CLCN7_HUMAN :
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily.
Family:
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily.
genes like me logo Genes that share domains with CLCN7: view

Function for CLCN7 Gene

Molecular function for CLCN7 Gene

UniProtKB/Swiss-Prot Function:
Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.
GENATLAS Biochemistry:
chloride voltage-gated channel 7,89kDa,widely expressed

Phenotypes From GWAS Catalog for CLCN7 Gene

Gene Ontology (GO) - Molecular Function for CLCN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005247 voltage-gated chloride channel activity IBA --
GO:0005254 chloride channel activity TAS 8543009
GO:0005524 ATP binding IEA --
GO:0015297 antiporter activity IEA --
genes like me logo Genes that share ontologies with CLCN7: view
genes like me logo Genes that share phenotypes with CLCN7: view

Human Phenotype Ontology for CLCN7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CLCN7 Gene

MGI Knock Outs for CLCN7:

Animal Model Products

  • Taconic Biosciences Mouse Models for CLCN7

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN7

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CLCN7 Gene

Localization for CLCN7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCN7 Gene

Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLCN7 gene
Compartment Confidence
lysosome 5
plasma membrane 4
nucleus 2
endosome 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CLCN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0016020 membrane HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLCN7: view

Pathways & Interactions for CLCN7 Gene

genes like me logo Genes that share pathways with CLCN7: view

Gene Ontology (GO) - Biological Process for CLCN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0009268 response to pH IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with CLCN7: view

No data available for SIGNOR curated interactions for CLCN7 Gene

Drugs & Compounds for CLCN7 Gene

(5) Drugs for CLCN7 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
DIDS Pharma Channel blocker 0
NPPB Pharma Channel blocker, Activation, Activator inhibitor of chloride channel, Inhibits calcium-sensitive chloride currents 0
NS5818 Pharma Channel blocker 0

(2) Additional Compounds for CLCN7 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Chloride(1-)
  • Chlorine anion
  • CL(-)
  • Bertholite
  • Chloor
16887-00-6
genes like me logo Genes that share compounds with CLCN7: view

Transcripts for CLCN7 Gene

mRNA/cDNA for CLCN7 Gene

Unigene Clusters for CLCN7 Gene

Chloride channel, voltage-sensitive 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN7

Alternative Splicing Database (ASD) splice patterns (SP) for CLCN7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3:
SP4:
SP5:
SP6: - - -
SP7: - -
SP8: -
SP9: - - - -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15: - -

ExUns: 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c · 29d
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:

Relevant External Links for CLCN7 Gene

GeneLoc Exon Structure for
CLCN7
ECgene alternative splicing isoforms for
CLCN7

Expression for CLCN7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLCN7 Gene

Protein differential expression in normal tissues from HIPED for CLCN7 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.2), Blymphocyte (11.5), and Testis (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CLCN7 Gene



Protein tissue co-expression partners for CLCN7 Gene

NURSA nuclear receptor signaling pathways regulating expression of CLCN7 Gene:

CLCN7

SOURCE GeneReport for Unigene cluster for CLCN7 Gene:

Hs.459649

mRNA Expression by UniProt/SwissProt for CLCN7 Gene:

P51798-CLCN7_HUMAN
Tissue specificity: Brain, testis, muscle and kidney.

Evidence on tissue expression from TISSUES for CLCN7 Gene

  • Nervous system(4.9)
  • Skin(4.6)
  • Eye(4.5)
  • Liver(4.2)
  • Bone(2.5)
  • Bone marrow(2.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLCN7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • pharynx
  • sinus
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CLCN7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CLCN7 Gene

Orthologs for CLCN7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLCN7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLCN7 34 33
  • 99.17 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLCN7 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLCN7 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLCN7 34 33
  • 88.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CLCN7 34 33
  • 88.57 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clcn7 33
  • 87.59 (n)
mouse
(Mus musculus)
Mammalia Clcn7 16 34 33
  • 87.34 (n)
chicken
(Gallus gallus)
Aves CLCN7 34 33
  • 80.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLCN7 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clcn7 33
  • 73.86 (n)
zebrafish
(Danio rerio)
Actinopterygii clcn7 34 33
  • 71.13 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007499 33
  • 58.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta ClC-b 34 33
  • 55.54 (n)
OneToOne
CG8594 35
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea clh-6 34 35 33
  • 50.7 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEF1 34
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CLC-C 33
  • 45.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToOne
Species where no ortholog for CLCN7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CLCN7 Gene

ENSEMBL:
Gene Tree for CLCN7 (if available)
TreeFam:
Gene Tree for CLCN7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLCN7: view image

Paralogs for CLCN7 Gene

Paralogs for CLCN7 Gene

(2) SIMAP similar genes for CLCN7 Gene using alignment to 7 proteins:

  • CLCN7_HUMAN
  • H0Y2M6_HUMAN
  • H3BNG8_HUMAN
  • I3L470_HUMAN
  • Q2VPA2_HUMAN
  • Q96RY8_HUMAN
  • Q9BRN4_HUMAN
genes like me logo Genes that share paralogs with CLCN7: view

Variants for CLCN7 Gene

Sequence variations from dbSNP and Humsavar for CLCN7 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1010431569 uncertain-significance, Osteopetrosis 1,445,210(-) C/G 3_prime_UTR_variant
rs1041882860 uncertain-significance, Osteopetrosis 1,445,442(-) C/T 3_prime_UTR_variant
rs1042889362 uncertain-significance, Osteopetrosis 1,446,217(-) G/A 3_prime_UTR_variant
rs1050834 benign, Osteopetrosis 1,445,745(-) G/A 3_prime_UTR_variant
rs10903009 likely-benign, Osteopetrosis 1,446,004(-) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CLCN7 Gene

Variant ID Type Subtype PubMed ID
esv1010408 CNV insertion 20482838
esv1712114 CNV deletion 17803354
esv2422427 CNV duplication 17116639
esv2676983 CNV deletion 23128226
esv2740712 CNV deletion 23290073
esv2743238 CNV deletion 23290073
esv2750343 CNV deletion 23290073
esv2750344 CNV deletion 23290073
esv2762143 CNV gain 21179565
esv28902 CNV loss 19812545
esv3401239 CNV insertion 20981092
esv3552994 CNV deletion 23714750
nsv1140045 CNV deletion 24896259
nsv457331 CNV loss 19166990
nsv471066 CNV loss 18288195
nsv471068 CNV gain 18288195
nsv525102 CNV loss 19592680
nsv571160 CNV loss 21841781
nsv571161 CNV gain 21841781
nsv571162 CNV loss 21841781
nsv817713 CNV loss 17921354
nsv819259 CNV gain 19587683
nsv819844 CNV gain 19587683
nsv827494 CNV gain 20364138
nsv827495 CNV gain 20364138
nsv952899 CNV deletion 24416366

Variation tolerance for CLCN7 Gene

Residual Variation Intolerance Score: 3.97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.21; 76.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLCN7 Gene

Human Gene Mutation Database (HGMD)
CLCN7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLCN7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCN7 Gene

Disorders for CLCN7 Gene

MalaCards: The human disease database

(11) MalaCards diseases for CLCN7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CLCN7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLCN7_HUMAN
  • Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. {ECO:0000269 PubMed:11207362, ECO:0000269 PubMed:11741829, ECO:0000269 PubMed:14584882, ECO:0000269 PubMed:17033731, ECO:0000269 PubMed:19953639, ECO:0000269 PubMed:26477479}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base. {ECO:0000269 PubMed:11741829, ECO:0000269 PubMed:14584882, ECO:0000269 PubMed:19288050, ECO:0000269 PubMed:19953639, ECO:0000269 PubMed:26395888}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteopetrosis, autosomal recessive 2 (OPTB2) [MIM:259710]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. {ECO:0000269 PubMed:26395888}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CLCN7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CLCN7: view

No data available for Genatlas for CLCN7 Gene

Publications for CLCN7 Gene

  1. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. (PMID: 19953639) Pangrazio A … Sobacchi C (Human mutation 2010) 3 4 22 58
  2. Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II). (PMID: 19288050) Zhang ZL … Liu YJ (Journal of bone and mineral metabolism 2009) 3 4 22 58
  3. CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men. (PMID: 18755304) Chu K … Econs MJ (Bone 2008) 3 22 44 58
  4. Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. (PMID: 16368748) Kornak U … de Vernejoul MC (The Journal of clinical endocrinology and metabolism 2006) 3 22 44 58
  5. Polymorphisms of the CLCN7 gene are associated with BMD in women. (PMID: 16234969) Pettersson U … Ralston SH (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2005) 3 22 44 58

Products for CLCN7 Gene

Sources for CLCN7 Gene