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KRTAP12-2 keratin associated protein 12-2 [ Homo sapiens (human) ]

Gene ID: 353323, updated on 7-Apr-2024

Summary

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Official Symbol
KRTAP12-2provided by HGNC
Official Full Name
keratin associated protein 12-2provided by HGNC
Primary source
HGNC:HGNC:20530
See related
Ensembl:ENSG00000221864 AllianceGenome:HGNC:20530
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
KAP12.2; KRTAP12.2
Summary
Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
all
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Genomic context

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Location:
21q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44666189..44666927, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43026607..43027345, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46086106..46086844, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene thrombospondin type laminin G domain and EAR repeats Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46075040-46075540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46075541-46076041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46077511-46078482 Neighboring gene keratin associated protein 12-4 Neighboring gene keratin associated protein 12-3 Neighboring gene keratin associated protein 12-1 Neighboring gene inner membrane mitochondrial protein pseudogene 1

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. 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. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953
  4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Yang X, et al. Cell, 2016 Feb 11. PMID 26871637, Free PMC Article
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article

See all (9) 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

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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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in intermediate filament IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
keratin-associated protein 12-2
Names
high sulfur keratin-associated protein 12.2
keratin-associated protein 12.2

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_181684.3 → NP_859012.1  keratin-associated protein 12-2

    See identical proteins and their annotated locations for NP_859012.1

    Status: VALIDATED

    Source sequence(s)
    AJ566389
    Consensus CDS
    CCDS42965.1
    UniProtKB/Swiss-Prot
    A6NIS1, A6NMS9, P59991, Q0VAS4
    Related
    ENSP00000354001.3, ENST00000360770.3
    Conserved Domains (1) summary
    cl26067
    Location:3 → 132
    Keratin_B2; Keratin, high sulfur B2 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    44666189..44666927 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    43026607..43027345 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59991.1 GenPept UniProtKB/Swiss-Prot:P59991

Gene LinkOut

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