KRTAP5-2 (keratin associated protein 5-2) - Rat Genome Database

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Gene: KRTAP5-2 (keratin associated protein 5-2) Homo sapiens
Analyze
Symbol: KRTAP5-2
Name: keratin associated protein 5-2
RGD ID: 1351556
HGNC Page HGNC:23597
Description: Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: keratin-associated protein 5-2; keratin-associated protein 5-8; keratin-associated protein 5.2; keratin-associated protein 5.8; KRTAP5-8; KRTAP5.2; ultrahigh sulfur keratin-associated protein 5.2
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,597,177 - 1,598,294 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,597,177 - 1,598,294 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,618,407 - 1,619,524 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,574,983 - 1,576,100 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,574,982 - 1,576,100NCBI
Celera111,655,845 - 1,656,962 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,411,397 - 1,412,514 (-)NCBIHuRef
CHM1_1111,617,352 - 1,618,469 (-)NCBICHM1_1
T2T-CHM13v2.0111,678,683 - 1,679,770 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15144888   PMID:23590728   PMID:32296183   PMID:36949045  


Genomics

Comparative Map Data
KRTAP5-2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,597,177 - 1,598,294 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,597,177 - 1,598,294 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,618,407 - 1,619,524 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,574,983 - 1,576,100 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,574,982 - 1,576,100NCBI
Celera111,655,845 - 1,656,962 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,411,397 - 1,412,514 (-)NCBIHuRef
CHM1_1111,617,352 - 1,618,469 (-)NCBICHM1_1
T2T-CHM13v2.0111,678,683 - 1,679,770 (-)NCBIT2T-CHM13v2.0
Krtap5-2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397141,728,269 - 141,729,742 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7141,728,272 - 141,729,742 (-)EnsemblGRCm39 Ensembl
GRCm387142,174,532 - 142,176,005 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7142,174,535 - 142,176,005 (-)EnsemblGRCm38mm10GRCm38
MGSCv377149,360,437 - 149,361,910 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,983,925 - 141,985,395 (-)NCBIMGSCv36mm8
Celera7141,929,022 - 141,930,495 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map787.71NCBI

Variants

.
Variants in KRTAP5-2
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 copy number loss See cases [RCV000052645] Chr11:758848..1998025 [GRCh38]
Chr11:758848..2019255 [GRCh37]
Chr11:748848..1975831 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
NM_001004325.1(KRTAP5-2):c.*16C>T single nucleotide variant Malignant melanoma [RCV000069266] Chr11:1597701 [GRCh38]
Chr11:1618931 [GRCh37]
Chr11:1575507 [NCBI36]
Chr11:11p15.5		 not provided
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 copy number gain See cases [RCV000136847] Chr11:1537379..3360769 [GRCh38]
Chr11:1558609..3381999 [GRCh37]
Chr11:1515185..3338575 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207104] Chr11:870446..1857751 [GRCh37]
Chr11:11p15.5		 uncertain significance
chr11:1092954..1857751 complex variant complex Breast ductal adenocarcinoma [RCV000207239] Chr11:1092954..1857751 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3 copy number gain not provided [RCV001259591] Chr11:1436158..2321134 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
GRCh37/hg19 11p15.5(chr11:1247127-1654552) copy number gain not specified [RCV002052910] Chr11:1247127..1654552 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_1278740)_(2906719_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV003113999] Chr11:1278740..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_001004325.2(KRTAP5-2):c.451G>A (p.Val151Met) single nucleotide variant Inborn genetic diseases [RCV002901574] Chr11:1597800 [GRCh38]
Chr11:1619030 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001004325.2(KRTAP5-2):c.167G>C (p.Cys56Ser) single nucleotide variant Inborn genetic diseases [RCV002685342] Chr11:1598084 [GRCh38]
Chr11:1619314 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001004325.2(KRTAP5-2):c.296G>T (p.Gly99Val) single nucleotide variant Inborn genetic diseases [RCV002778204] Chr11:1597955 [GRCh38]
Chr11:1619185 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001004325.2(KRTAP5-2):c.196G>A (p.Val66Met) single nucleotide variant Inborn genetic diseases [RCV002849745] Chr11:1598055 [GRCh38]
Chr11:1619285 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001004325.2(KRTAP5-2):c.269C>A (p.Ser90Tyr) single nucleotide variant Inborn genetic diseases [RCV002655244] Chr11:1597982 [GRCh38]
Chr11:1619212 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001004325.2(KRTAP5-2):c.332G>A (p.Cys111Tyr) single nucleotide variant Inborn genetic diseases [RCV003284780] Chr11:1597919 [GRCh38]
Chr11:1619149 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001004325.2(KRTAP5-2):c.451G>C (p.Val151Leu) single nucleotide variant Inborn genetic diseases [RCV003181179] Chr11:1597800 [GRCh38]
Chr11:1619030 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:1517714-1751986)x3 copy number gain not provided [RCV003484829] Chr11:1517714..1751986 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:325
Count of miRNA genes:275
Interacting mature miRNAs:279
Transcripts:ENST00000412090
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 2 2
Low 14 10 13 7 12 5 104 4 23 12 28 2 2 52
Below cutoff 60 14 67 60 52 62 70 15 48 26 53 74 2 1 10

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000412090   ⟹   ENSP00000400041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,597,177 - 1,598,294 (-)Ensembl
RefSeq Acc Id: NM_001004325   ⟹   NP_001004325
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,597,177 - 1,598,294 (-)NCBI
GRCh37111,618,407 - 1,619,524 (-)RGD
Build 36111,574,983 - 1,576,100 (-)NCBI Archive
Celera111,655,845 - 1,656,962 (-)RGD
HuRef111,411,397 - 1,412,514 (-)RGD
CHM1_1111,617,352 - 1,618,469 (-)NCBI
T2T-CHM13v2.0111,678,683 - 1,679,770 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001004325 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI32883 (Get FASTA)   NCBI Sequence Viewer  
  AAI32909 (Get FASTA)   NCBI Sequence Viewer  
  BAD20198 (Get FASTA)   NCBI Sequence Viewer  
  CAF31637 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000400041
  ENSP00000400041.1
  ENSP00000484511.1
  ENSP00000487099.1
  ENSP00000516912.1
GenBank Protein Q701N4 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001004325   ⟸   NM_001004325
- UniProtKB: A9JTZ1 (UniProtKB/Swiss-Prot),   Q701N4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000400041   ⟸   ENST00000412090

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q701N4-F1-model_v2 AlphaFold Q701N4 1-177 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23597 AgrOrtholog
COSMIC KRTAP5-2 COSMIC
Ensembl Genes ENSG00000205867 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000278489 UniProtKB/Swiss-Prot
  ENSG00000281533 UniProtKB/Swiss-Prot
  ENSG00000291434 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000412090 ENTREZGENE
  ENST00000412090.2 UniProtKB/Swiss-Prot
  ENST00000612541.2 UniProtKB/Swiss-Prot
  ENST00000628787.1 UniProtKB/Swiss-Prot
  ENST00000707559.1 UniProtKB/Swiss-Prot
GTEx ENSG00000205867 GTEx
  ENSG00000278489 GTEx
  ENSG00000281533 GTEx
  ENSG00000291434 GTEx
HGNC ID HGNC:23597 ENTREZGENE
Human Proteome Map KRTAP5-2 Human Proteome Map
KEGG Report hsa:440021 UniProtKB/Swiss-Prot
NCBI Gene 440021 ENTREZGENE
PharmGKB PA134981423 PharmGKB
UniProt A9JTZ1 ENTREZGENE
  KRA52_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A9JTZ1 UniProtKB/Swiss-Prot