Details for: CLN8

Gene ID: 2055

Symbol: CLN8

Ensembl ID: ENSG00000182372

Description: CLN8 transmembrane ER and ERGIC protein

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 1.64
    Marker Score: 1781
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.45
    Marker Score: 1452.5
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.36
    Marker Score: 46152
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.33
    Marker Score: 13489.5
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.33
    Marker Score: 1954
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.31
    Marker Score: 327
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.3
    Marker Score: 327
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.28
    Marker Score: 3010
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.26
    Marker Score: 4683
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.17
    Marker Score: 489
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.17
    Marker Score: 378
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.14
    Marker Score: 1197
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.04
    Marker Score: 327
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.04
    Marker Score: 2562
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.01
    Marker Score: 532
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71717
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47941
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.99
    Marker Score: 406
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.99
    Marker Score: 2408
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.98
    Marker Score: 1518
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30395
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2396
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.93
    Marker Score: 3664
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.93
    Marker Score: 23860.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 477
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 433
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.92
    Marker Score: 356
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 0.91
    Marker Score: 1317
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2701
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.89
    Marker Score: 3444
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.88
    Marker Score: 692.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5238
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.86
    Marker Score: 31799
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4825
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.84
    Marker Score: 8002
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.83
    Marker Score: 3445
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.83
    Marker Score: 473
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.81
    Marker Score: 49643.5
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.8
    Marker Score: 920
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.79
    Marker Score: 540
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.79
    Marker Score: 6806
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.79
    Marker Score: 2046
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.79
    Marker Score: 6783
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.77
    Marker Score: 267
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.76
    Marker Score: 308
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.76
    Marker Score: 270
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 303
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 574
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.75
    Marker Score: 779
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.74
    Marker Score: 442
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.74
    Marker Score: 234
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.73
    Marker Score: 144
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.72
    Marker Score: 170
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.72
    Marker Score: 871
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 372
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.72
    Marker Score: 418
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.72
    Marker Score: 174
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.71
    Marker Score: 391
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7
    Marker Score: 451
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 0.7
    Marker Score: 348
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.69
    Marker Score: 6472
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.69
    Marker Score: 762
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.67
    Marker Score: 5841
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.67
    Marker Score: 384
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.66
    Marker Score: 606
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.66
    Marker Score: 419
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.66
    Marker Score: 25044
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.66
    Marker Score: 3996
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.65
    Marker Score: 1482
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.65
    Marker Score: 938
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.64
    Marker Score: 1171
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.64
    Marker Score: 5010
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.64
    Marker Score: 185
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.64
    Marker Score: 129
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.64
    Marker Score: 329
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.64
    Marker Score: 731
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.63
    Marker Score: 214
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.63
    Marker Score: 590
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.62
    Marker Score: 305
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 0.61
    Marker Score: 1561
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.61
    Marker Score: 471
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0.61
    Marker Score: 733
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.61
    Marker Score: 284.5
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.61
    Marker Score: 516
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 395
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.59
    Marker Score: 494
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.59
    Marker Score: 317
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.59
    Marker Score: 961.5
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.58
    Marker Score: 1167
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.58
    Marker Score: 1062
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.58
    Marker Score: 614
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.58
    Marker Score: 567.5
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.58
    Marker Score: 621
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.57
    Marker Score: 967
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.57
    Marker Score: 942
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.57
    Marker Score: 637

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Other Information

**Key characteristics:** - CLN8 is a transmembrane protein with a molecular weight of approximately 120 kDa. - It is expressed in a variety of cell types, including B cells, fibroblasts, and kidney cells. - CLN8 is a key regulator of cell size, as it is expressed in cells that are responsible for regulating their size. - It is also involved in protein catabolism and social behavior. **Pathways and functions:** - CLN8 is involved in the regulation of cell size by binding to the CLN1 and CLN3 proteins and promoting their interaction. This interaction stabilizes the CLN1 and CLN3 proteins, which are otherwise very labile. - CLN8 is also involved in the regulation of protein catabolism. It binds to ceramide, a bioactive lipid molecule, and promotes its degradation. - CLN8 is involved in social behavior by regulating the differentiation of sympathetic neurons. It is expressed in neurons that are located in the central nervous system and is required for the development of social behaviors such as aggression and fear. **Clinical significance:** - Mutations in the CLN8 gene have been linked to several human diseases, including autism spectrum disorder, schizophrenia, and cancer. - CLN8 is a promising target for the development of new treatments for these diseases. **Additional information:** - CLN8 is a conserved protein, with a similar protein found in mice. - It is expressed in all tissues examined in humans. - CLN8 is a highly versatile protein that plays a critical role in various cellular processes.

Genular Protein ID: 1570997331

Symbol: CLN8_HUMAN

Name: Protein CLN8

UniProtKB Accession Codes:

Q9UBY8 Q86U71 Q96I95

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EPD 1 Ensembl 7 ExpressionAtlas 1 GO 35 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 6 SIGNOR 1 SMART 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10508524

Title: The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

PubMed ID: 10508524

DOI: 10.1038/13868

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: 10861296

Title: The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.

PubMed ID: 10861296

DOI: 10.1093/hmg/9.11.1691

PubMed ID: 17237713

Title: Neuronal ceroid lipofuscinosis: a common pathway?

PubMed ID: 17237713

DOI: 10.1203/pdr.0b013e31802d8a4a

PubMed ID: 19941651

Title: Novel interactions of CLN5 support molecular networking between neuronal ceroid lipofuscinosis proteins.

PubMed ID: 19941651

DOI: 10.1186/1471-2121-10-83

PubMed ID: 15024724

Title: Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

PubMed ID: 15024724

DOI: 10.1002/humu.20018

PubMed ID: 16570191

Title: Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

PubMed ID: 16570191

DOI: 10.1007/s10048-005-0024-y

PubMed ID: 19201763

Title: Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

PubMed ID: 19201763

DOI: 10.1093/brain/awn366

PubMed ID: 19431184

Title: A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

PubMed ID: 19431184

DOI: 10.1002/humu.21012

PubMed ID: 19807737

Title: Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

PubMed ID: 19807737

DOI: 10.1111/j.1399-0004.2009.01285.x

PubMed ID: 21990111

Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PubMed ID: 21990111

DOI: 10.1002/humu.21624

PubMed ID: 26443629

Title: Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

PubMed ID: 26443629

DOI: 10.1016/j.braindev.2015.09.008

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 286
  • Mass: 32787
  • Checksum: 1A5995B13E14DCDC
  • Sequence:
    • MNPASDGGTS ESIFDLDYAS WGIRSTLMVA GFVFYLGVFV VCHQLSSSLN ATYRSLVARE 
KVFWDLAATR AVFGVQSTAA GLWALLGDPV LHADKARGQQ NWCWFHITTA TGFFCFENVA 
VHLSNLIFRT FDLFLVIHHL FAFLGFLGCL VNLQAGHYLA MTTLLLEMST PFTCVSWMLL 
KAGWSESLFW KLNQWLMIHM FHCRMVLTYH MWWVCFWHWD GLVSSLYLPH LTLFLVGLAL 
LTLIINPYWT HKKTQQLLNP VDWNFAQPEA KSRPEGNGQL LRKKRP

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. For the full schema, download it here.