Details for: KRT12

Gene ID: 3859

Symbol: KRT12

Ensembl ID: ENSG00000187242

Description: keratin 12

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: T cell (CL0000084)
    Fold Change: 2.4
    Marker Score: 4,138
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.36
    Marker Score: 2,605
  • Cell Name: basal cell (CL0000646)
    Fold Change: 2.34
    Marker Score: 3,025
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 2.17
    Marker Score: 1,201
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 2.07
    Marker Score: 2,862
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.66
    Marker Score: 1,850
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 857
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.25
    Marker Score: 1,195
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 490
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.17
    Marker Score: 1,234
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.12
    Marker Score: 7,459
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.08
    Marker Score: 629
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.03
    Marker Score: 474
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 512
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 465
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,405
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,411
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.9
    Marker Score: 5,157
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.89
    Marker Score: 357
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,282
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.85
    Marker Score: 491
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.74
    Marker Score: 1,188
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 466
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.73
    Marker Score: 382
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2,858
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.64
    Marker Score: 615
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.64
    Marker Score: 507
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.61
    Marker Score: 444
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.58
    Marker Score: 327
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.57
    Marker Score: 231
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.52
    Marker Score: 217
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.5
    Marker Score: 158
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.44
    Marker Score: 163
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.38
    Marker Score: 342
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.28
    Marker Score: 188
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 66
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.23
    Marker Score: 226
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 76
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.16
    Marker Score: 56
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.15
    Marker Score: 37
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.15
    Marker Score: 91
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.14
    Marker Score: 39
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.14
    Marker Score: 39
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.14
    Marker Score: 37
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.14
    Marker Score: 38
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.14
    Marker Score: 210
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.13
    Marker Score: 75
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.12
    Marker Score: 31
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.11
    Marker Score: 247
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.11
    Marker Score: 35
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.11
    Marker Score: 31
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.11
    Marker Score: 37
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 0.1
    Marker Score: 46
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1
    Marker Score: 35
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.1
    Marker Score: 320
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1
    Marker Score: 24
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.1
    Marker Score: 204
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.09
    Marker Score: 49
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.09
    Marker Score: 25
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.09
    Marker Score: 37
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.08
    Marker Score: 31
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.08
    Marker Score: 41
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.08
    Marker Score: 80
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.08
    Marker Score: 58
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.07
    Marker Score: 22
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.07
    Marker Score: 31
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.07
    Marker Score: 65
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.07
    Marker Score: 25
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.07
    Marker Score: 30
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.06
    Marker Score: 34
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.06
    Marker Score: 37
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.06
    Marker Score: 30
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.06
    Marker Score: 28
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.06
    Marker Score: 33
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.06
    Marker Score: 59
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.06
    Marker Score: 37
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.05
    Marker Score: 33
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.05
    Marker Score: 37
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.05
    Marker Score: 31
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.05
    Marker Score: 36
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.05
    Marker Score: 55
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.05
    Marker Score: 37
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.05
    Marker Score: 31
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.04
    Marker Score: 37
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.04
    Marker Score: 36
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.04
    Marker Score: 32
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.04
    Marker Score: 34
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.04
    Marker Score: 38
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.04
    Marker Score: 36
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 0.03
    Marker Score: 31
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.03
    Marker Score: 165
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.03
    Marker Score: 34
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.03
    Marker Score: 38
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.03
    Marker Score: 39

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Genevisible 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 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 Reactome 2 RefSeq 1 SAM 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.