KRTAP3-2 Gene (Protein Coding)

Keratin Associated Protein 3-2

GC17M040999
GIFtS:
31
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high s... See more...

Aliases for KRTAP3-2 Gene

Aliases for KRTAP3-2 Gene

  • Keratin Associated Protein 3-2 2 3 5
  • KAP3.2 2 3 4
  • High Sulfur Keratin-Associated Protein 3.2 3 4
  • Keratin-Associated Protein 3-2 3 4
  • KRTAP3.2 3 4
  • Keratin Associated Protein 3.2 3
  • Keratin-Associated Protein 3.2 4
  • KRTAP3-2 5

External Ids for KRTAP3-2 Gene

Previous GeneCards Identifiers for KRTAP3-2 Gene

  • GC17M038655
  • GC17M041331
  • GC17M039064
  • GC17M039528
  • GC17P9W0128
  • GC17M036408
  • GC17M039155
  • GC17M034950

Summaries for KRTAP3-2 Gene

Entrez Gene Summary for KRTAP3-2 Gene

  • This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRTAP3-2 Gene

KRTAP3-2 (Keratin Associated Protein 3-2) is a Protein Coding gene. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRTAP3-3.

UniProtKB/Swiss-Prot Summary for KRTAP3-2 Gene

  • 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.

Additional gene information for KRTAP3-2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP3-2 Gene

Genomics for KRTAP3-2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KRTAP3-2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRTAP3-2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP3-2

Top Transcription factor binding sites by QIAGEN in the KRTAP3-2 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • HEN1
  • IRF-1
  • LCR-F1
  • Lhx3a
  • Nkx2-2
  • TBP

Genomic Locations for KRTAP3-2 Gene

Genomic Locations for KRTAP3-2 Gene
chr17:40,999,193-40,999,906
(GRCh38/hg38)
Size:
714 bases
Orientation:
Minus strand
chr17:39,155,445-39,156,138
(GRCh37/hg19)
Size:
694 bases
Orientation:
Minus strand

Genomic View for KRTAP3-2 Gene

Genes around KRTAP3-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP3-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP3-2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KRTAP3-2 Gene

Proteins for KRTAP3-2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KRTAP3-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYR7-KRA32_HUMAN
    Recommended name:
    Keratin-associated protein 3-2
    Protein Accession:
    Q9BYR7

    Protein attributes for KRTAP3-2 Gene

    Size:
    98 amino acids
    Molecular mass:
    10407 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP3-2 Gene

Protein Expression for KRTAP3-2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KRTAP3-2 Gene

No Post-translational modifications

Other Protein References for KRTAP3-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP3-2 Gene

Domains & Families for KRTAP3-2 Gene

Gene Families for KRTAP3-2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KRTAP3-2 Gene

InterPro:
Blocks:
  • Keratin, high-sulphur matrix protein
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP3-2 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-associated protein 3.2 (KRA32_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYR7

UniProtKB/Swiss-Prot:

KRA32_HUMAN :
  • Belongs to the KRTAP type 3 family.
Family:
  • Belongs to the KRTAP type 3 family.
genes like me logo Genes that share domains with KRTAP3-2: view

Function for KRTAP3-2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for KRTAP3-2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for KRTAP3-2 Gene

Gene Ontology (GO) - Molecular Function for KRTAP3-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 23088713
genes like me logo Genes that share ontologies with KRTAP3-2: view
genes like me logo Genes that share phenotypes with KRTAP3-2: view

Animal Model Products

CRISPR Products

miRNA for KRTAP3-2 Gene

miRTarBase miRNAs that target KRTAP3-2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP3-2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP3-2 Gene

Localization for KRTAP3-2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRTAP3-2 gene
Compartment Confidence
cytosol 4
extracellular 3
cytoskeleton 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KRTAP3-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRTAP3-2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP3-2 Gene

Pathways & Interactions for KRTAP3-2 Gene

PathCards logo

SuperPathways for KRTAP3-2 Gene

SuperPathway Contained pathways
1 Developmental Biology
Developmental Biology
.51
2 Keratinization
Keratinization
.33
genes like me logo Genes that share pathways with KRTAP3-2: view

Pathways by source for KRTAP3-2 Gene

2 Reactome pathways for KRTAP3-2 Gene

Gene Ontology (GO) - Biological Process for KRTAP3-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization TAS --
genes like me logo Genes that share ontologies with KRTAP3-2: view

No data available for SIGNOR curated interactions for KRTAP3-2 Gene

Drugs & Compounds for KRTAP3-2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for KRTAP3-2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KRTAP3-2 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRTAP3-2

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP3-2 Gene

No ASD Table

Relevant External Links for KRTAP3-2 Gene

GeneLoc Exon Structure for
KRTAP3-2

Expression for KRTAP3-2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRTAP3-2 Gene

mRNA expression in normal human tissues for KRTAP3-2 Gene
mRNA expression by BioGPS for KRTAP3-2 GenemRNA expression by GTEx for KRTAP3-2 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP3-2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.3).

Protein differential expression in normal tissues from HIPED for KRTAP3-2 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRTAP3-2 Gene



Protein tissue co-expression partners for KRTAP3-2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP3-2

SOURCE GeneReport for Unigene cluster for KRTAP3-2 Gene:

Hs.307026

Evidence on tissue expression from TISSUES for KRTAP3-2 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with KRTAP3-2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP3-2 Gene

Orthologs for KRTAP3-2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRTAP3-2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KRTAP3-2 30
  • 98.3 (n)
-- 31
  • 98 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia KRTAP3-3 31
  • 84 (a)
 ManyToMany
-- 31
  • 84 (a)
 ManyToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 83 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Krtap3-3 31
  • 82 (a)
 ManyToMany
Krtap3-2 31
  • 82 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 75 (a)
 ManyToMany
-- 31
  • 75 (a)
 ManyToMany
Species where no ortholog for KRTAP3-2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRTAP3-2 Gene

ENSEMBL:
Gene Tree for KRTAP3-2 (if available)
TreeFam:
Gene Tree for KRTAP3-2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRTAP3-2: view image

Paralogs for KRTAP3-2 Gene

Paralogs for KRTAP3-2 Gene

(2) SIMAP similar genes for KRTAP3-2 Gene using alignment to 1 proteins:

  • KRA32_HUMAN
genes like me logo Genes that share paralogs with KRTAP3-2: view

Variants for KRTAP3-2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP3-2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs3813050 - p.Ile46Thr
rs3829598 - p.Arg27Cys
rs9897046 - p.Ser8Gly

Additional dbSNP identifiers (rs#s) for KRTAP3-2 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRTAP3-2 Gene

Variant ID Type Subtype PubMed ID
dgv5590n54 CNV loss 21841781
esv2190143 CNV deletion 18987734
esv2666089 CNV deletion 23128226
esv2761957 CNV gain 21179565
esv28462 CNV loss 19812545
esv3640559 CNV gain 21293372
esv3640560 CNV gain 21293372
esv3640563 CNV loss 21293372
nsv1146669 OTHER inversion 26484159
nsv575002 CNV loss 21841781
nsv9550 CNV loss 18304495
nsv960599 CNV duplication 23825009

Variation tolerance for KRTAP3-2 Gene

Residual Variation Intolerance Score: 81.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.33; 94.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRTAP3-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRTAP3-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP3-2 Gene

Disorders for KRTAP3-2 Gene

Additional Disease Information for KRTAP3-2

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for KRTAP3-2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP3-2 Gene

Publications for KRTAP3-2 Gene

  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. (PMID: 11279113) Rogers MA … Schweizer J (The Journal of biological chemistry 2001) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. (PMID: 29892012) Chen S … Yu H (Nature genetics 2018) 3

ExternalLinks

View latest publications for KRTAP3-2 gene in Mastermind

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