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

Gene ID: 728279, updated on 2-Nov-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, Nov 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)

Genotypes

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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