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    KRTAP2-2 keratin associated protein 2-2 [ Homo sapiens (human) ]

    Gene ID: 728279, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KRTAP2-2provided by HGNC
    Official Full Name
    keratin associated protein 2-2provided by HGNC
    Primary source
    HGNC:HGNC:18905
    See related
    Ensembl:ENSG00000214518 AllianceGenome:HGNC:18905
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KAP2.1; KAP2.2; KRTAP2-1; KRTAP2.1A; KRTAP2.1B
    Summary
    Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See KRTAP2-2 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41054498..41055230, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41919008..41919845, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39210750..39211482, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 1-1 Neighboring gene keratin associated protein 2-1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39215536-39216110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39216111-39216685 Neighboring gene keratin associated protein 2-3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39221327-39221864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39221865-39222401 Neighboring gene keratin associated protein 2-4

    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. Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. Rogers MA, et al. J Biol Chem, 2001 Jun 1. PMID 11279113
    2. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article
    3. Ephrin-As, Eph receptors and integrin α3 interact and colocalise at membrane protrusions of U251MG glioblastoma cells. Makarov A, et al. Cell Biol Int, 2013 Oct. PMID 23686814
    4. DDX24 promotes metastasis by regulating RPL5 in non-small cell lung cancer. Hu X, et al. Cancer Med, 2022 Dec. PMID 35864588, Free PMC Article
    5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    See all (6) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    General protein information

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    Preferred Names
    putative keratin-associated protein ENSP00000381495
    Names
    High sulfur keratin-associated protein 2.1
    Keratin-associated protein 2-1
    Keratin-associated protein 2.1

    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_033032.3 → NP_149021.2  putative keratin-associated protein ENSP00000381495

      See identical proteins and their annotated locations for NP_149021.2

      Status: VALIDATED

      Source sequence(s)
      AC100808
      Consensus CDS
      CCDS54122.1
      UniProtKB/Swiss-Prot
      A8MTN3, A8MXM4, Q9BYT5
      UniProtKB/TrEMBL
      F5H1T9
      Related
      ENSP00000381494.1, ENST00000398477.1
      Conserved Domains (2) summary
      pfam01500
      Location:2 → 123
      Keratin_B2; Keratin, high sulfur B2 protein
      pfam13885
      Location:58 → 102
      Keratin_B2_2; Keratin, high sulfur B2 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
      41054498..41055230 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791801.1 Reference GRCh38.p14 PATCHES

      Range
      4301..5033 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
      203891..204709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017030240.1 → XP_016885729.1  putative keratin-associated protein ENSP00000381495 isoform X1

      UniProtKB/Swiss-Prot
      Q9BYU5
      Conserved Domains (1) summary
      pfam01500
      Location:2 → 128
      Keratin_B2; Keratin, high sulfur B2 protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      41919008..41919845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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