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KRT12 keratin 12 [ Homo sapiens (human) ]

Gene ID: 3859, updated on 17-Sep-2024

Summary

Official Symbol
KRT12provided by HGNC
Official Full Name
keratin 12provided by HGNC
Primary source
HGNC:HGNC:6414
See related
Ensembl:ENSG00000187242 MIM:601687; AllianceGenome:HGNC:6414
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
K12; MECD1
Summary
KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See KRT12 in Genome Data Viewer
Location:
17q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (40861303..40867223, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41725618..41731542, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39017555..39023475, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371776 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:38975907-38977106 Neighboring gene KRT10 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:38983418-38984617 Neighboring gene keratin 10 Neighboring gene uncharacterized LOC105371777 Neighboring gene Sharpr-MPRA regulatory region 3631 Neighboring gene keratin 20 Neighboring gene uncharacterized LOC107985072 Neighboring gene keratin 23

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cornea development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epithelial cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in intermediate filament organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in morphogenesis of an epithelium IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in morphogenesis of an epithelium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
keratin, type I cytoskeletal 12
Names
CK-12
cytokeratin-12
keratin 12, type I

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008077.1 RefSeqGene

    Range
    4988..10908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1343

mRNA and Protein(s)

  1. NM_000223.4NP_000214.1  keratin, type I cytoskeletal 12

    Status: REVIEWED

    Source sequence(s)
    AK313747, CV573989, D78367
    Consensus CDS
    CCDS11378.1
    UniProtKB/Swiss-Prot
    B2R9E0, Q99456
    Related
    ENSP00000251643.4, ENST00000251643.5
    Conserved Domains (1) summary
    pfam00038
    Location:124436
    Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    40861303..40867223 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003871091.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    10571..16491 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    41725618..41731542 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)