Details for: CLCN7
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 143.3667
Cell Significance Index: -22.3000 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 86.5585
Cell Significance Index: -21.9600 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 50.4530
Cell Significance Index: -23.8200 - Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 44.4803
Cell Significance Index: -22.8800 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 21.4770
Cell Significance Index: -20.5100 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 19.1897
Cell Significance Index: -23.6600 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 8.5708
Cell Significance Index: -22.9600 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 6.8697
Cell Significance Index: -21.1000 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 6.0884
Cell Significance Index: -24.0300 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 5.5332
Cell Significance Index: -12.1100 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.3717
Cell Significance Index: 135.7000 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.2724
Cell Significance Index: 17.3600 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 1.1316
Cell Significance Index: 184.0500 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 1.1157
Cell Significance Index: 29.9000 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.9367
Cell Significance Index: 187.9100 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.6700
Cell Significance Index: 132.9600 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.6668
Cell Significance Index: 72.5300 - Cell Name: decidual cell (CL2000002)
Fold Change: 0.5417
Cell Significance Index: 8.6900 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.5396
Cell Significance Index: 15.0800 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.5207
Cell Significance Index: 11.2800 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.5188
Cell Significance Index: 60.4600 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.4666
Cell Significance Index: 30.1100 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.4452
Cell Significance Index: 26.7300 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.4274
Cell Significance Index: 153.2900 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.4269
Cell Significance Index: 5.3000 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.3386
Cell Significance Index: 23.4200 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.3107
Cell Significance Index: 56.0200 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.3023
Cell Significance Index: 13.7000 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.2665
Cell Significance Index: 7.6400 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.2429
Cell Significance Index: 132.6400 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.2297
Cell Significance Index: 10.7100 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.2212
Cell Significance Index: 11.4900 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 0.2198
Cell Significance Index: 11.5400 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.1906
Cell Significance Index: 23.4400 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.1602
Cell Significance Index: 22.0000 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 0.1566
Cell Significance Index: 4.4700 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 0.1562
Cell Significance Index: 10.5000 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.1549
Cell Significance Index: 291.6900 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.1393
Cell Significance Index: 61.5900 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.1174
Cell Significance Index: 3.1400 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.1141
Cell Significance Index: 78.8900 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.1120
Cell Significance Index: 2.8000 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.1047
Cell Significance Index: 19.9300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0895
Cell Significance Index: 6.8700 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.0781
Cell Significance Index: 2.2500 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0683
Cell Significance Index: 2.4000 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.0459
Cell Significance Index: 5.8900 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0366
Cell Significance Index: 67.4800 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.0324
Cell Significance Index: 2.0400 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0296
Cell Significance Index: 18.7900 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.0254
Cell Significance Index: 22.9100 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0245
Cell Significance Index: 4.1900 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0169
Cell Significance Index: 26.0200 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.0007
Cell Significance Index: 0.3300 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0017
Cell Significance Index: -0.0800 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0026
Cell Significance Index: -3.4700 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0049
Cell Significance Index: -0.1300 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0107
Cell Significance Index: -7.8600 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0127
Cell Significance Index: -1.8400 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0159
Cell Significance Index: -12.0300 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.0160
Cell Significance Index: -1.8900 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0283
Cell Significance Index: -20.9400 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0289
Cell Significance Index: -2.9500 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.0329
Cell Significance Index: -0.7000 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0384
Cell Significance Index: -21.6700 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0423
Cell Significance Index: -26.3900 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.0550
Cell Significance Index: -7.1100 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0715
Cell Significance Index: -20.5600 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.0755
Cell Significance Index: -3.3400 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0838
Cell Significance Index: -9.6000 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.0884
Cell Significance Index: -6.2500 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.0911
Cell Significance Index: -1.8900 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.1004
Cell Significance Index: -7.4800 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.1056
Cell Significance Index: -4.0000 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.1094
Cell Significance Index: -6.1400 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.1147
Cell Significance Index: -1.9200 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1186
Cell Significance Index: -24.9800 - Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.1217
Cell Significance Index: -2.2500 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.1357
Cell Significance Index: -4.7200 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1627
Cell Significance Index: -16.9400 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.1655
Cell Significance Index: -10.1700 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.1980
Cell Significance Index: -5.3900 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.2415
Cell Significance Index: -7.7400 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.2455
Cell Significance Index: -15.0500 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.2621
Cell Significance Index: -20.7600 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.2897
Cell Significance Index: -7.4000 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.3023
Cell Significance Index: -7.9500 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: -0.3330
Cell Significance Index: -4.9900 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.3393
Cell Significance Index: -5.8200 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.3583
Cell Significance Index: -18.6700 - Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: -0.3588
Cell Significance Index: -3.0500 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.4210
Cell Significance Index: -12.4000 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.4311
Cell Significance Index: -9.1500 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.4330
Cell Significance Index: -13.7900 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.4513
Cell Significance Index: -14.7800 - Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: -0.4580
Cell Significance Index: -3.5300 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.4722
Cell Significance Index: -10.3400 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.4949
Cell Significance Index: -9.6600 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.5084
Cell Significance Index: -17.8100 - Cell Name: corneal epithelial cell (CL0000575)
Fold Change: -0.5100
Cell Significance Index: -7.2600
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 1972890951
Symbol: CLCN7_HUMAN
Name: H(+)/Cl(-) exchange transporter 7
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15616553
Title: The sequence and analysis of duplication-rich human chromosome 16.
PubMed ID: 15616553
DOI: 10.1038/nature03187
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 8543009
Title: ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family.
PubMed ID: 8543009
PubMed ID: 9565675
Title: The exon-intron architecture of human chloride channel genes is not conserved.
PubMed ID: 9565675
PubMed ID: 17081983
Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
PubMed ID: 17081983
PubMed ID: 17897319
Title: Integral and associated lysosomal membrane proteins.
PubMed ID: 17897319
PubMed ID: 18449189
Title: The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.
PubMed ID: 18449189
DOI: 10.1038/nature06907
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 21527911
Title: ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
PubMed ID: 21527911
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 11207362
Title: Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
PubMed ID: 11207362
PubMed ID: 11741829
Title: Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
PubMed ID: 11741829
PubMed ID: 14584882
Title: Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
PubMed ID: 14584882
PubMed ID: 17033731
Title: DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.
PubMed ID: 17033731
PubMed ID: 19288050
Title: Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).
PubMed ID: 19288050
PubMed ID: 19953639
Title: Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
PubMed ID: 19953639
DOI: 10.1002/humu.21167
PubMed ID: 26395888
Title: Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
PubMed ID: 26395888
PubMed ID: 26477479
Title: A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.
PubMed ID: 26477479
PubMed ID: 31155284
Title: Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
PubMed ID: 31155284
Sequence Information:
- Length: 805
- Mass: 88679
- Checksum: E56BC0B4ADE1C695
- Sequence:
MANVSKKVSW SGRDRDDEEA APLLRRTARP GGGTPLLNGA GPGAARQSPR SALFRVGHMS SVELDDELLD PDMDPPHPFP KEIPHNEKLL SLKYESLDYD NSENQLFLEE ERRINHTAFR TVEIKRWVIC ALIGILTGLV ACFIDIVVEN LAGLKYRVIK GNIDKFTEKG GLSFSLLLWA TLNAAFVLVG SVIVAFIEPV AAGSGIPQIK CFLNGVKIPH VVRLKTLVIK VSGVILSVVG GLAVGKEGPM IHSGSVIAAG ISQGRSTSLK RDFKIFEYFR RDTEKRDFVS AGAAAGVSAA FGAPVGGVLF SLEEGASFWN QFLTWRIFFA SMISTFTLNF VLSIYHGNMW DLSSPGLINF GRFDSEKMAY TIHEIPVFIA MGVVGGVLGA VFNALNYWLT MFRIRYIHRP CLQVIEAVLV AAVTATVAFV LIYSSRDCQP LQGGSMSYPL QLFCADGEYN SMAAAFFNTP EKSVVSLFHD PPGSYNPLTL GLFTLVYFFL ACWTYGLTVS AGVFIPSLLI GAAWGRLFGI SLSYLTGAAI WADPGKYALM GAAAQLGGIV RMTLSLTVIM MEATSNVTYG FPIMLVLMTA KIVGDVFIEG LYDMHIQLQS VPFLHWEAPV TSHSLTAREV MSTPVTCLRR REKVGVIVDV LSDTASNHNG FPVVEHADDT QPARLQGLIL RSQLIVLLKH KVFVERSNLG LVQRRLRLKD FRDAYPRFPP IQSIHVSQDE RECTMDLSEF MNPSPYTVPQ EASLPRVFKL FRALGLRHLV VVDNRNQVVG LVTRKDLARY RLGKRGLEEL SLAQT
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.