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    KRT76 keratin 76 [ Homo sapiens (human) ]

    Gene ID: 51350, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KRT76provided by HGNC
    Official Full Name
    keratin 76provided by HGNC
    Primary source
    HGNC:HGNC:24430
    See related
    Ensembl:ENSG00000185069 MIM:616671; AllianceGenome:HGNC:24430
    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
    KRT2B; KRT2P; HUMCYT2A
    Summary
    Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See KRT76 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52768155..52777345, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52732608..52741798, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53161939..53171129, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 127, pseudogene Neighboring gene ARF like GTPase 2 binding protein pseudogene 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689 Neighboring gene keratin 3 Neighboring gene MPRA-validated peak1735 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53206971-53207472 Neighboring gene keratin 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Suprabasal marker proteins distinguishing keratinizing squamous epithelia: cytokeratin 2 polypeptides of oral masticatory epithelium and epidermis are different. Collin C, et al. Differentiation, 1992 Oct. PMID 1282112
    2. K(2P)2.1 is a regulator of inflammatory cell responses in idiopathic inflammatory myopathies. Nelke C, et al. J Autoimmun, 2024 Jan. PMID 37935063
    3. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. Rogers MA, et al. J Invest Dermatol, 2005 Mar. PMID 15737194
    4. Immunomodulatory role of Keratin 76 in oral and gastric cancer. Sequeira I, et al. Nat Commun, 2018 Aug 24. PMID 30143634, Free PMC Article
    5. RNF208, an estrogen-inducible E3 ligase, targets soluble Vimentin to suppress metastasis in triple-negative breast cancers. Pang K, et al. Nat Commun, 2019 Dec 20. PMID 31862882, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. K2P2.1 is a regulator of inflammatory cell responses in idiopathic inflammatory myopathies.
      Title: K(2P)2.1 is a regulator of inflammatory cell responses in idiopathic inflammatory myopathies.
    2. Data shows that immunomodulatory role of Keratin 76 in oral and gastric cancer.
      Title: Immunomodulatory role of Keratin 76 in oral and gastric cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of skin epidermis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in keratinization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pigmentation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sebaceous gland development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in intermediate filament NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in keratin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    keratin, type II cytoskeletal 2 oral
    Names
    CK-2P
    K2P
    K76
    cytokeratin 2
    cytokeratin-2P
    keratin 2p
    keratin 76, type II
    type-II keratin Kb9

    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_012420.1 RefSeqGene

      Range
      5001..14191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015848.4 → NP_056932.2  keratin, type II cytoskeletal 2 oral

      See identical proteins and their annotated locations for NP_056932.2

      Status: REVIEWED

      Source sequence(s)
      AK299390, M99063
      Consensus CDS
      CCDS8838.1
      UniProtKB/Swiss-Prot
      B4DRR3, Q01546, Q7Z795
      Related
      ENSP00000330101.2, ENST00000332411.2
      Conserved Domains (3) summary
      pfam00038
      Location:182 → 495
      Filament; Intermediate filament protein
      pfam16208
      Location:16 → 179
      Keratin_2_head; Keratin type II head
      cl23720
      Location:408 → 469
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      52768155..52777345 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52732608..52741798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01546.2 GenPept UniProtKB/Swiss-Prot:Q01546

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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