KRT12 (keratin 12)

2014-11-01 Affiliation

Identity

HGNC

KRT12

LOCATION

17q21.2

LOCUSID

3859

ALIAS

K12,MECD1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3859
MIM: 601687
HGNC: 6414
Ensembl: ENSG00000187242

Variants:

dbSNP: 3859
ClinVar: 3859
TCGA: ENSG00000187242
COSMIC: KRT12

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000187242	ENST00000251643	Q99456
ENSG00000187242	ENST00000647902	A0A3B3ITG2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Developmental Biology	REACTOME	R-HSA-1266738
Keratinization	REACTOME	R-HSA-6805567

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
30535821	2019	In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.	5
30535821	2019	In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.	5
29162348	2018	Human aniridia limbal epithelial cells lack expression of keratins K3 and K12.	7
29162348	2018	Human aniridia limbal epithelial cells lack expression of keratins K3 and K12.	7
28567551	2017	Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy.	2
28567551	2017	Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy.	2
26899008	2016	PAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific Genes.	24
26899008	2016	PAX6 Isoforms, along with Reprogramming Factors, Differentially Regulate the Induction of Cornea-specific Genes.	24
24099278	2014	KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.	4
24801514	2014	siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy.	10
24099278	2014	KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.	4
24801514	2014	siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy.	10
23222558	2013	Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.	6
23233254	2013	Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.	13
23569037	2013	Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.	1

Citation

Dessen P

KRT12 (keratin 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65008/img/favicon/apple-touch-icon.png