Aliases for KRTAP10-2 Gene
Aliases for KRTAP10-2 Gene
External Ids for KRTAP10-2 Gene
- HGNC: 22967
- Entrez Gene: 386679
- Ensembl: ENSG00000205445
- UniProtKB: P60368
Previous HGNC Symbols for KRTAP10-2 Gene
- KRTAP18-2
Previous GeneCards Identifiers for KRTAP10-2 Gene
- GC21U900094
- GC21M044794
- GC21M045970
- GC21M031344
Summaries for KRTAP10-2 Gene
-
This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]
GeneCards Summary for KRTAP10-2 Gene
KRTAP10-2 (Keratin Associated Protein 10-2) is a Protein Coding gene. Among its related pathways are Keratinization and Developmental Biology. An important paralog of this gene is KRTAP10-11.
UniProtKB/Swiss-Prot for KRTAP10-2 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 KRTAP10-2 Gene
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP10-2 Gene
Genomics for KRTAP10-2 Gene
GeneHancer (GH) Regulatory Elements for KRTAP10-2 Gene
Promoters and enhancers for KRTAP10-2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KRTAP10-2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KRTAP10-2 gene promoter:
Regulatory Element Products
Genomic Locations for KRTAP10-2 Gene
Genomic Locations for KRTAP10-2 Gene
- chr21:44,550,357-44,551,505
- (GRCh38/hg38)
- Size:
- 1,149 bases
- Orientation:
- Minus strand
- chr21:45,970,240-45,971,388
- (GRCh37/hg19)
Genomic View for KRTAP10-2 Gene
Genes around KRTAP10-2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by Ensembl
- 21q22.3 by Entrez Gene
- 21q22.3 by HGNC
KRTAP10-2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KRTAP10-2 Gene
Proteins for KRTAP10-2 Gene
-
Protein details for KRTAP10-2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P60368-KR102_HUMAN
- Recommended name:
- Keratin-associated protein 10-2
- Protein Accession:
- P60368
- Q70LJ5
Protein attributes for KRTAP10-2 Gene
- Size:
- 255 amino acids
- Molecular mass:
- 25616 Da
- Quaternary structure:
-
- Interacts with hair keratins.
Alternative splice isoforms for KRTAP10-2 Gene
- UniProtKB/Swiss-Prot:
Post-translational modifications for KRTAP10-2 Gene
No Post-translational modifications
Other Protein References for KRTAP10-2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KRTAP10-2
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- Search GeneTex for Proteins for KRTAP10-2
Assay Products
No data available for DME Specific Peptides for KRTAP10-2 Gene
Domains & Families for KRTAP10-2 Gene
Gene Families for KRTAP10-2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for KRTAP10-2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P60368- Family:
-
- Belongs to the KRTAP type 10 family.
Function for KRTAP10-2 Gene
Molecular function for KRTAP10-2 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 for KRTAP10-2 Gene
- GenomeRNAi human phenotypes for KRTAP10-2:
Animal Model Products
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-
-
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- Search ViGene Biosciences for KRTAP10-2
CRISPR Products
- Browse CRISPR knockouts for KRTAP10-2
- genomics-online: gRNA clones - Search results for available KRTAP10-2 gene related products
- Applied Biological Materials CRISPR for KRTAP10-2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP10-2
- GenScript: Design CRISPR guide RNA sequences for KRTAP10-2
miRNA for KRTAP10-2 Gene
- miRTarBase miRNAs that target KRTAP10-2
miRNA Products
- Search ViGene Biosciences for KRTAP10-2
Inhibitory RNA Products
- genomics-online: shRNA clones - Search results for available KRTAP10-2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KRTAP10-2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available KRTAP10-2 gene related products
- orf clones - Search results for available KRTAP10-2 gene related products
- Applied Biological Materials Clones for KRTAP10-2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KRTAP10-2
-
ViGene Biosciences adenoviral particle packaged cDNA for KRTAP10-2 gene
-
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- Search ViGene Biosciences for KRTAP10-2
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP10-2 Gene
Localization for KRTAP10-2 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 3 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005882 | intermediate filament | IEA | -- |
| GO:0045095 | keratin filament | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRTAP10-2 Gene
Pathways & Interactions for KRTAP10-2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Developmental Biology | ||
| 2 | Keratinization |
.33
|
|
Pathways by source for KRTAP10-2 Gene
2 Reactome pathways for KRTAP10-2 Gene
Interacting Proteins for KRTAP10-2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031424 | keratinization | TAS | -- |
No data available for SIGNOR curated interactions for KRTAP10-2 Gene
Transcripts for KRTAP10-2 Gene
mRNA/cDNA for KRTAP10-2 Gene
- (1) REFSEQ mRNAs :
- (5) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
- Browse CRISPR knockouts for KRTAP10-2
- genomics-online: gRNA clones - Search results for available KRTAP10-2 gene related products
- Applied Biological Materials CRISPR for KRTAP10-2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP10-2
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miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for KRTAP10-2 gene
Clone Products
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KRTAP10-2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available KRTAP10-2 gene related products
- orf clones - Search results for available KRTAP10-2 gene related products
- Applied Biological Materials Clones for KRTAP10-2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for KRTAP10-2 Gene
mRNA differential expression in normal tissues according to GTEx for KRTAP10-2 Gene
This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.3) and Skin - Sun Exposed (Lower leg) (x5.2).
SOURCE GeneReport for Unigene cluster for KRTAP10-2 Gene:
Hs.664660mRNA Expression by UniProt/SwissProt for KRTAP10-2 Gene:
P60368-KR102_HUMAN
Tissue specificity:
Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.
Evidence on tissue expression from TISSUES for KRTAP10-2 Gene
- Skin(4)
Primer Products
- genomics-online: primer clones - Search results for available KRTAP10-2 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KRTAP10-2 Gene
Orthologs for KRTAP10-2 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KRTAP10-2 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gm3250 34 |
|
ManyToMany | |
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
ManyToMany |
- Species where no ortholog for KRTAP10-2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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)
Paralogs for KRTAP10-2 Gene
Paralogs for KRTAP10-2 Gene
(9) SIMAP similar genes for KRTAP10-2 Gene using alignment to 1 proteins:
Variants for KRTAP10-2 Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000174785 | -- | 44,553,115(-) | G/A | upstream_transcript_variant | |
| rs1005461429 | -- | 44,552,271(-) | C/T | upstream_transcript_variant | |
| rs1008861500 | -- | 44,552,359(-) | G/C | upstream_transcript_variant | |
| rs1009018611 | -- | 44,552,525(-) | C/T | upstream_transcript_variant | |
| rs1011285398 | -- | 44,552,804(-) | C/T | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4435n100 | CNV | gain | 25217958 |
| esv2723638 | CNV | deletion | 23290073 |
| esv2723673 | CNV | deletion | 23290073 |
| esv33817 | CNV | loss | 17666407 |
| esv3647132 | CNV | gain | 21293372 |
| esv7169 | OTHER | inversion | 19470904 |
| nsv1055163 | CNV | gain | 25217958 |
| nsv587803 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
89.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.77;
89.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KRTAP10-2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- KRTAP10-2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP10-2 Gene
Disorders for KRTAP10-2 Gene
Additional Disease Information for KRTAP10-2
No disorders were found for KRTAP10-2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP10-2 Gene
Publications for KRTAP10-2 Gene
- Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. (PMID: 14962103) Rogers MA … Schweizer J (The Journal of investigative dermatology 2004) 3 4 58
- A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. (PMID: 15028290) Shibuya K … Shimizu N (Genomics 2004) 3 4 58
- The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
- Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. (PMID: 12359730) Rogers MA … Schweizer J (The Journal of biological chemistry 2002) 3 58
Products for KRTAP10-2 Gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available KRTAP10-2 related products ranked by validation data
- antibodies-online: Search results for available KRTAP10-2 related products ranked by validation data
- antibodies-online: Search results for available KRTAP10-2 related products ranked by validation data
- Search GeneTex for Antibodies for KRTAP10-2
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Sources for KRTAP10-2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
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- (18) KEGG
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- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
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- (114) diseasecard
- (115) NIH Rare Diseases
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- (125) NCBI Bookshelf
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- (133) ENCODE
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew