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    KRTAP10-2 keratin associated protein 10-2 [ Homo sapiens (human) ]

    Gene ID: 386679, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KRTAP10-2provided by HGNC
    Official Full Name
    keratin associated protein 10-2provided by HGNC
    Primary source
    HGNC:HGNC:22967
    See related
    Ensembl:ENSG00000205445 AllianceGenome:HGNC:22967
    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
    KAP10.2; KAP18-2; KAP18.2; KRTAP10.2; KRTAP18-2; KRTAP18.2
    Summary
    This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See KRTAP10-2 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44550357..44551505, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42910748..42911896, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45970240..45971388, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene thrombospondin type laminin G domain and EAR repeats Neighboring gene uncharacterized LOC124905038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45957963-45958462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45958816-45959480 Neighboring gene keratin associated protein 10-1 Neighboring gene Sharpr-MPRA regulatory region 850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45969969-45970518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45970519-45971066 Neighboring gene keratin associated protein 10-3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45993821-45994338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45994339-45994857 Neighboring gene keratin associated protein 10-4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. Rogers MA, et al. J Invest Dermatol, 2004 Jan. PMID 14962103
    2. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. Shibuya K, et al. Genomics, 2004 Apr. PMID 15028290
    3. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. Rogers MA, et al. J Biol Chem, 2002 Dec 13. PMID 12359730
    4. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953
    5. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Pathways from PubChem

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    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

    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in keratin filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    keratin-associated protein 10-2
    Names
    high sulfur keratin-associated protein 10.2
    keratin-associated protein 18-2
    keratin-associated protein 18.2

    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.

    mRNA and Protein(s)

    1. NM_198693.4 → NP_941966.1  keratin-associated protein 10-2

      See identical proteins and their annotated locations for NP_941966.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AB076348, AJ566381
      Consensus CDS
      CCDS42955.1
      UniProtKB/Swiss-Prot
      P60368, Q70LJ5
      Related
      ENSP00000375479.1, ENST00000391621.1
      Conserved Domains (2) summary
      pfam01500
      Location:70 → 229
      Keratin_B2; Keratin, high sulfur B2 protein
      pfam13885
      Location:74 → 115
      Keratin_B2_2; Keratin, high sulfur B2 protein

    RNA

    1. NR_130165.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal segment compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AB076349, AJ566381
      Related
      ENST00000498210.1

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      44550357..44551505 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      42910748..42911896 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60368.1 GenPept UniProtKB/Swiss-Prot:P60368

    Gene LinkOut

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