Details for: KRT12

Gene ID: 3859

Symbol: KRT12

Ensembl ID: ENSG00000187242

Description: keratin 12

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: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 9.3952
    Cell Significance Index: 67.6100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 8.5731
    Cell Significance Index: 122.0400
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.7711
    Cell Significance Index: 19.6500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4471
    Cell Significance Index: 85.0900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3511
    Cell Significance Index: 4.7900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.2885
    Cell Significance Index: 4.1000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2643
    Cell Significance Index: 238.6200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1011
    Cell Significance Index: 10.0000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0248
    Cell Significance Index: 4.0400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0212
    Cell Significance Index: 0.6100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0211
    Cell Significance Index: 0.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0161
    Cell Significance Index: 2.0600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0124
    Cell Significance Index: 8.5600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0004
    Cell Significance Index: 0.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0006
    Cell Significance Index: -0.4100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0007
    Cell Significance Index: -0.4000
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0024
    Cell Significance Index: -0.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0029
    Cell Significance Index: -0.3400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0070
    Cell Significance Index: -0.1700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0132
    Cell Significance Index: -0.3600
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0138
    Cell Significance Index: -0.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0156
    Cell Significance Index: -29.2900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0191
    Cell Significance Index: -35.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0212
    Cell Significance Index: -0.9900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0229
    Cell Significance Index: -35.2800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0239
    Cell Significance Index: -0.5000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0242
    Cell Significance Index: -0.6000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0262
    Cell Significance Index: -35.5800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0270
    Cell Significance Index: -0.5500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0282
    Cell Significance Index: -0.5500
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: -0.0385
    Cell Significance Index: -0.4200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0412
    Cell Significance Index: -1.1000
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.0422
    Cell Significance Index: -0.6000
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: -0.0442
    Cell Significance Index: -0.4600
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0461
    Cell Significance Index: -0.4400
  • Cell Name: immature NK T cell (CL0000914)
    Fold Change: -0.0469
    Cell Significance Index: -0.6000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0481
    Cell Significance Index: -30.5300
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: -0.0485
    Cell Significance Index: -0.5900
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0505
    Cell Significance Index: -0.4800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0523
    Cell Significance Index: -28.5900
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.0529
    Cell Significance Index: -0.5100
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: -0.0530
    Cell Significance Index: -0.5000
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: -0.0540
    Cell Significance Index: -0.5400
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0542
    Cell Significance Index: -0.5800
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.0543
    Cell Significance Index: -0.5200
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.0572
    Cell Significance Index: -0.5300
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: -0.0580
    Cell Significance Index: -0.4900
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: -0.0613
    Cell Significance Index: -0.6000
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: -0.0647
    Cell Significance Index: -0.6900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0660
    Cell Significance Index: -29.9400
  • Cell Name: peptic cell (CL0000155)
    Fold Change: -0.0675
    Cell Significance Index: -0.6000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0688
    Cell Significance Index: -3.1200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0737
    Cell Significance Index: -0.8600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0776
    Cell Significance Index: -1.9400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0853
    Cell Significance Index: -30.6000
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: -0.0873
    Cell Significance Index: -0.7300
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0889
    Cell Significance Index: -0.5900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0927
    Cell Significance Index: -0.6300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.1003
    Cell Significance Index: -10.9100
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: -0.1055
    Cell Significance Index: -1.0700
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: -0.1165
    Cell Significance Index: -0.8000
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1208
    Cell Significance Index: -1.6700
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.1210
    Cell Significance Index: -1.4300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1232
    Cell Significance Index: -22.2100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1299
    Cell Significance Index: -6.7500
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: -0.1365
    Cell Significance Index: -0.6500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1472
    Cell Significance Index: -1.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1542
    Cell Significance Index: -30.9400
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.1674
    Cell Significance Index: -1.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1823
    Cell Significance Index: -36.1800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1970
    Cell Significance Index: -1.1900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2090
    Cell Significance Index: -30.3900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2111
    Cell Significance Index: -28.9900
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.2279
    Cell Significance Index: -2.9800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2375
    Cell Significance Index: -16.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2390
    Cell Significance Index: -14.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2393
    Cell Significance Index: -29.4200
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.2491
    Cell Significance Index: -2.4100
  • Cell Name: neutrophil (CL0000775)
    Fold Change: -0.2810
    Cell Significance Index: -3.5100
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.2880
    Cell Significance Index: -5.6300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.3082
    Cell Significance Index: -4.8900
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.3194
    Cell Significance Index: -3.8600
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: -0.3264
    Cell Significance Index: -3.5100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.3483
    Cell Significance Index: -20.9100
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.3741
    Cell Significance Index: -3.8800
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.3812
    Cell Significance Index: -4.8300
  • Cell Name: immature B cell (CL0000816)
    Fold Change: -0.3995
    Cell Significance Index: -3.7800
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.4246
    Cell Significance Index: -3.7800
  • Cell Name: salivary gland cell (CL0009005)
    Fold Change: -0.4300
    Cell Significance Index: -5.3400
  • Cell Name: naive B cell (CL0000788)
    Fold Change: -0.4568
    Cell Significance Index: -4.8100
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: -0.4742
    Cell Significance Index: -5.2500
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: -0.4836
    Cell Significance Index: -5.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4870
    Cell Significance Index: -22.8900
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: -0.4879
    Cell Significance Index: -5.6600
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: -0.4952
    Cell Significance Index: -3.5600
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.5068
    Cell Significance Index: -5.4200
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.5244
    Cell Significance Index: -5.0400
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.5267
    Cell Significance Index: -5.4800
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: -0.5322
    Cell Significance Index: -5.5200
  • Cell Name: osteoclast (CL0000092)
    Fold Change: -0.5339
    Cell Significance Index: -5.4500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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

**Key Characteristics:** KRT12 is a type I keratin protein, which is characterized by its ability to form dimers and cross-link with other keratin proteins to form a stable filament network. This network provides mechanical strength and resistance to mechanical stress, while also regulating cell shape and morphology. KRT12 is highly expressed in epithelial cells, where it plays a critical role in maintaining the integrity of the epithelial barrier. Additionally, KRT12 has been shown to interact with other proteins, such as keratin 5 and 14, to regulate the formation of the cornified envelope, a specialized structure found in the skin and cornea that provides mechanical strength and resistance to water loss. **Pathways and Functions:** KRT12 is involved in several cellular pathways, including: 1. **Cytoskeleton organization**: KRT12 interacts with other keratin proteins to form a stable filament network that regulates cell shape and morphology. 2. **Epithelial cell differentiation**: KRT12 plays a critical role in the differentiation of epithelial cells, particularly in the formation of the cornified envelope. 3. **Cell migration**: KRT12 has been shown to regulate cell migration in epithelial cells, which is essential for tissue repair and regeneration. 4. **Apoptosis regulation**: KRT12 has been shown to regulate apoptosis in epithelial cells, preventing excessive cell death and maintaining tissue homeostasis. **Clinical Significance:** Dysregulation of KRT12 expression has been implicated in various human diseases, including: 1. **Corneal dystrophies**: Mutations in the KRT12 gene have been associated with corneal dystrophies, a group of genetic disorders that affect the cornea and lead to vision loss. 2. **Skin disorders**: KRT12 has been implicated in various skin disorders, including epidermolysis bullosa simplex and ichthyosis vulgaris. 3. **Cancer**: Aberrant expression of KRT12 has been observed in various types of cancer, including breast and lung cancer. 4. **Neurological disorders**: KRT12 has been implicated in neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, KRT12 is a critical component of the cytoskeleton that plays a vital role in maintaining epithelial function and development. Its dysregulation has been implicated in various human diseases, highlighting the importance of further research into the mechanisms of KRT12 function and its role in human disease.

Genular Protein ID: 2452957933

Symbol: K1C12_HUMAN

Name: Keratin, type I cytoskeletal 12

UniProtKB Accession Codes:

Q99456 B2R9E0

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 DrugBank 2 EMBL 5 Ensembl 2 ExpressionAtlas 1 GO 10 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRIDE 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8759347

Title: A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA.

PubMed ID: 8759347

PubMed ID: 9399908

Title: Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.

PubMed ID: 9399908

DOI: 10.1086/301650

PubMed ID: 10644419

Title: Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

PubMed ID: 10644419

DOI: 10.1006/exer.1999.0769

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 26758872

Title: Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.

PubMed ID: 26758872

DOI: 10.1093/hmg/ddw001

PubMed ID: 9171831

Title: Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

PubMed ID: 9171831

DOI: 10.1038/ng0697-184

PubMed ID: 10612503

Title: A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.

PubMed ID: 10612503

DOI: 10.1016/s0002-9394(99)00317-7

PubMed ID: 10781519

Title: A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.

PubMed ID: 10781519

DOI: 10.1136/bjo.84.5.527

PubMed ID: 12543196

Title: Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.

PubMed ID: 12543196

DOI: 10.1016/s0021-5155(02)00563-4

PubMed ID: 15148206

Title: A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.

PubMed ID: 15148206

DOI: 10.1136/bjo.2003.032870

PubMed ID: 16227835

Title: Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

PubMed ID: 16227835

DOI: 10.1097/01.ico.0000159732.29930.26

PubMed ID: 16352477

Title: Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.

PubMed ID: 16352477

DOI: 10.1080/13816810500374391

PubMed ID: 17653038

Title: A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.

PubMed ID: 17653038

PubMed ID: 18245975

Title: A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.

PubMed ID: 18245975

DOI: 10.1097/ico.0b013e31815652fd

PubMed ID: 18661274

Title: A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.

PubMed ID: 18661274

DOI: 10.1007/s10384-007-0518-2

PubMed ID: 20577595

Title: Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.

PubMed ID: 20577595

PubMed ID: 23222558

Title: Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.

PubMed ID: 23222558

DOI: 10.1038/eye.2012.261

PubMed ID: 24099278

Title: KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.

PubMed ID: 24099278

DOI: 10.1016/j.ajo.2013.08.008

PubMed ID: 30535821

Title: In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.

PubMed ID: 30535821

DOI: 10.1007/s10384-018-00643-6

Sequence Information:

  • Length: 494
  • Mass: 53511
  • Checksum: 75C981380532B682
  • Sequence:
    • MDLSNNTMSL SVRTPGLSRR LSSQSVIGRP RGMSASSVGS GYGGSAFGFG ASCGGGFSAA 
SMFGSSSGFG GGSGSSMAGG LGAGYGRALG GGSFGGLGMG FGGSPGGGSL GILSGNDGGL 
LSGSEKETMQ NLNDRLASYL DKVRALEEAN TELENKIREW YETRGTGTAD ASQSDYSKYY 
PLIEDLRNKI ISASIGNAQL LLQIDNARLA AEDFRMKYEN ELALRQGVEA DINGLRRVLD 
ELTLTRTDLE MQIESLNEEL AYMKKNHEDE LQSFRVGGPG EVSVEMDAAP GVDLTRLLND 
MRAQYETIAE QNRKDAEAWF IEKSGELRKE ISTNTEQLQS SKSEVTDLRR AFQNLEIELQ 
SQLAMKKSLE DSLAEAEGDY CAQLSQVQQL ISNLEAQLLQ VRADAERQNV DHQRLLNVKA 
RLELEIETYR RLLDGEAQGD GLEESLFVTD SKSQAQSTDS SKDPTKTRKI KTVVQEMVNG 
EVVSSQVQEI EELM

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.