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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] See more...
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 Developmental Biology and Keratinization. An important paralog of this gene is KRTAP10-9.
UniProtKB/Swiss-Prot Summary 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
- HGNC(22967)
- Entrez Gene(386679)
- Ensembl(ENSG00000205445)
- UniProtKB(P60368)
- Open Targets Platform(ENSG00000205445)
- Search for KRTAP10-2 at DataMed
- Search for KRTAP10-2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRTAP10-2 Gene
Genomics for KRTAP10-2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KRTAP10-2 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 KRTAP10-2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRTAP10-2
- Top Transcription factor binding sites by QIAGEN in the KRTAP10-2 gene promoter:
-
- AP-4
- E47
- HEN1
- HNF-4alpha1
- NF-1
- NF-1/L
- Olf-1
- Pbx1a
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)
- Size:
- 1,149 bases
- Orientation:
- Minus strand
Genomic View for KRTAP10-2 Gene
Genes around KRTAP10-2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by HGNC
- 21q22.3 by Entrez Gene
- 21q22.3 by Ensembl
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:
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KRTAP10-2
- Origene Custom Protein Services for KRTAP10-2
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:
-
- Keratin-associated protein 18.2 (KR102_HUMAN)
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 From GWAS Catalog for KRTAP10-2 Gene
Phenotypes for KRTAP10-2 Gene
- GenomeRNAi human phenotypes for KRTAP10-2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KRTAP10-2 - Select products 50% OFF >
- * KRTAP10-2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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-
OriGene CRISPR knockouts for KRTAP10-2
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-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP10-2
miRNA for KRTAP10-2 Gene
- miRTarBase miRNAs that target KRTAP10-2
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for KRTAP10-2 - Select products 50% OFF >
- * KRTAP10-2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for KRTAP10-2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRTAP10-2
Cell Line Products
-
Horizon Cell Lines for KRTAP10-2
No data available for Enzyme Numbers (IUBMB) , 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 | 4 |
| extracellular | 2 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| mitochondrion | 0 |
| 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
GPS-Prot Interaction Network for KRTAP10-2
| 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 :
- 3 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000391621 1149 nts (view in UCSC)
- ENST00000498210 366 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KRTAP10-2 - Select products 50% OFF >
- * KRTAP10-2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for KRTAP10-2
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-
Santa Cruz Biotechnology (SCBT) CRISPR for KRTAP10-2
miRNA Products
Inhibitory RNA Products
- Origene shrna and sirna products in human, mouse, rat for KRTAP10-2
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Clone Products
- Applied Biological Materials (abm): Clones for KRTAP10-2 - Select products 50% OFF >
- * KRTAP10-2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for KRTAP10-2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRTAP10-2
Relevant External Links for KRTAP10-2 Gene
- GeneLoc Exon Structure for
- KRTAP10-2
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).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRTAP10-2
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
Gene Expression Assay 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 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gm3250 31 |
|
ManyToMany | |
| Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany |
- Species where no ortholog for KRTAP10-2 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 KRTAP10-2 Gene
- ENSEMBL:
- Gene Tree for KRTAP10-2 (if available)
- TreeFam:
- Gene Tree for KRTAP10-2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KRTAP10-2: view image
Paralogs for KRTAP10-2 Gene
Paralogs for KRTAP10-2 Gene
- KRTAP10-9 5
- KRTAP10-11 5
- KRTAP10-1 5
- KRTAP10-5 5
- KRTAP10-7 5
- KRTAP10-6 5
- KRTAP10-10 5
- KRTAP10-4 5
- KRTAP10-12 5
- KRTAP10-3 5
- KRTAP10-8 5
- KRTAP16-1 5
- KRTAP4-5 5
- KRTAP4-11 5
- KRTAP4-12 5
- KRTAP9-1 5
- KRTAP4-8 5
- KRTAP4-4 5
- KRTAP4-3 5
- KRTAP4-16 5
- KRTAP9-2 5
- KRTAP9-9 5
- KRTAP4-7 5
- KRTAP4-9 5
- KRTAP4-6 5
- KRTAP9-6 5
- KRTAP9-7 5
- KRTAP12-2 5
- KRTAP5-8 5
- KRTAP4-1 5
- KRTAP4-2 5
- KRTAP9-3 5
- KRTAP9-8 5
- KRTAP9-4 5
- KRTAP5-5 5
- KRTAP1-3 5
- KRTAP1-1 5
- KRTAP1-5 5
- KRTAP2-1 5
- KRTAP2-3 5
- KRTAP2-4 5
- KRTAP2-2 5
- KRTAP5-2 5
- KRTAP12-1 5
- KRTAP1-4 5
- KRTAP12-3 5
- KRTAP5-6 5
(9) SIMAP similar genes for KRTAP10-2 Gene using alignment to 1 proteins:
- KR102_HUMAN
Variants for KRTAP10-2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRTAP10-2 Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs146792277 | - | p.Arg241Gly | |||
| rs2329834 | - | p.Pro177Leu | |||
| rs233239 | - | p.Ala117Pro | |||
| rs233240 | - | p.Asn15Asp | |||
| rs478967 | - | p.Pro107Thr |
| 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
SNP Genotyping and Copy Number Assay Products
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
- 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
- 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
- The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4
- 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
Products for KRTAP10-2 Gene
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- VectorBuilder Virus packaging for KRTAP10-2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for KRTAP10-2
- antibodies-online: Search results for available KRTAP10-2 / KAP10.2 related products ranked by validation data
- antibodies-online: Search results for available KRTAP10-2 / KAP10.2 related products ranked by validation data
- antibodies-online: Search results for available KRTAP10-2 / KAP10.2 related products ranked by validation data
- Horizon Cell Lines for KRTAP10-2
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Sources for KRTAP10-2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
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- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB