Human Gene KRTAP2-4 (ENST00000394015.3_6) from GENCODE V47lift37
  Description: keratin associated protein 2-4 (from RefSeq NM_033184.4)
Gencode Transcript: ENST00000394015.3_6
Gencode Gene: ENSG00000213417.3_7
Transcript (Including UTRs)
   Position: hg19 chr17:39,221,368-39,222,131 Size: 764 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr17:39,221,711-39,222,097 Size: 387 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:39,221,368-39,222,131)mRNA (may differ from genome)Protein (128 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KRA24_HUMAN
DESCRIPTION: RecName: Full=Keratin-associated protein 2-4; AltName: Full=High sulfur keratin-associated protein 2.4; AltName: Full=Keratin-associated protein 2.4;
FUNCTION: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity).
SUBUNIT: Interacts with hair keratins (By similarity).
TISSUE SPECIFICITY: Expressed specifically in the middle/upper portions of the hair cortex, in the region termed the keratogenous zone.
SIMILARITY: Belongs to the KRTAP type 2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.00 RPKM in (null)
Total median expression: 0.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00340.000 Picture PostScript Text
3' UTR -75.20343-0.219 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002494 - Keratin-assoc

Pfam Domains:
PF01500 - Keratin, high sulfur B2 protein
PF13885 - Keratin, high sulfur B2 protein

ModBase Predicted Comparative 3D Structure on Q9BYR9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0031424 keratinization

Cellular Component:
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0045095 keratin filament


-  Descriptions from all associated GenBank mRNAs
  AJ406929 - Homo sapiens partial mRNA for keratin associated protein 2.1b (KRTAP2.1B gene).
AJ406930 - Homo sapiens mRNA for keratin associated protein 2.4 (KRTAP2.4 gene).
BC101147 - Homo sapiens keratin associated protein 2-4, mRNA (cDNA clone MGC:119882 IMAGE:40015180), complete cds.
BC101148 - Homo sapiens keratin associated protein 2-4, mRNA (cDNA clone MGC:119884 IMAGE:40015187), complete cds.
BC101149 - Homo sapiens keratin associated protein 2-4, mRNA (cDNA clone MGC:119885 IMAGE:40015188), complete cds.
JD281370 - Sequence 262394 from Patent EP1572962.
JD166294 - Sequence 147318 from Patent EP1572962.
JD490738 - Sequence 471762 from Patent EP1572962.
JD258254 - Sequence 239278 from Patent EP1572962.
JD491018 - Sequence 472042 from Patent EP1572962.
JD184587 - Sequence 165611 from Patent EP1572962.
JD121357 - Sequence 102381 from Patent EP1572962.
JD470502 - Sequence 451526 from Patent EP1572962.
JD272485 - Sequence 253509 from Patent EP1572962.
JD423935 - Sequence 404959 from Patent EP1572962.
JD400147 - Sequence 381171 from Patent EP1572962.
JD437668 - Sequence 418692 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BYR9 (Reactome details) participates in the following event(s):

R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000394015.1, ENST00000394015.2, KAP2.4, KRA24_HUMAN, KRTAP2.4, NM_033184, Q495J2, Q9BYR9, uc318wht.1, uc318wht.2
UCSC ID: ENST00000394015.3_6
RefSeq Accession: NM_033184.4
Protein: Q9BYR9 (aka KRA24_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.