KRT17 (keratin 17) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: KRT17 (keratin 17) Homo sapiens
Analyze
Symbol: KRT17
Name: keratin 17
RGD ID: 1353171
HGNC Page HGNC
Description: Predicted to have structural molecule activity. Predicted to be involved in hair follicle morphogenesis. Localizes to intermediate filament cytoskeleton. Implicated in ectodermal dysplasia; pachyonychia congenita; and steatocystoma multiplex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 39.1; CK-17; cytokeratin-17; K17; keratin 17 epitope S1; keratin 17 epitope S2; keratin 17 epitope S3; keratin 17 epitope S4; keratin 17, type I; keratin, type I cytoskeletal 17; keratin-17; PC; PC2; PCHC1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: KRT17P1   KRT17P2   KRT17P3   KRT17P4   KRT17P6   KRT17P7   KRT17P8  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1741,619,442 - 41,624,842 (-)EnsemblGRCh38hg38GRCh38
GRCh381741,619,442 - 41,624,575 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371739,775,692 - 39,780,882 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,029,220 - 37,034,335 (-)NCBINCBI36hg18NCBI36
Build 341737,029,220 - 37,034,335NCBI
Celera1736,428,841 - 36,434,031 (-)NCBI
Cytogenetic Map17q21.2NCBI
HuRef1735,538,739 - 35,543,929 (-)NCBIHuRef
CHM1_11740,011,007 - 40,016,197 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
8'-apo-beta,psi-caroten-8'-al  (EXP)
9-cis-retinoic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (EXP)
amphetamine  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bexarotene  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium sulfate  (EXP)
calcipotriol  (EXP)
calcitriol  (EXP)
carmustine  (EXP)
chromium trinitrate  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diazinon  (EXP)
diethylstilbestrol  (EXP)
dimercaprol  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
GW 4064  (ISO)
hydralazine  (EXP)
isotretinoin  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (EXP)
methyl methanesulfonate  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
nickel sulfate  (EXP)
paracetamol  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sodium arsenite  (EXP)
sodium chromate  (ISO)
sulforaphane  (EXP)
sulindac sulfide  (EXP)
tamoxifen  (EXP,ISO)
testosterone  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
triclosan  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1281771   PMID:1372562   PMID:1690428   PMID:7523421   PMID:7529318   PMID:7577575   PMID:9008238   PMID:9630597   PMID:9767294   PMID:9786956   PMID:10341211   PMID:10571744  
PMID:11348474   PMID:11591653   PMID:11874497   PMID:11886499   PMID:12429849   PMID:12466114   PMID:12477932   PMID:12577067   PMID:14702039   PMID:14744259   PMID:14761598   PMID:15102078  
PMID:15342556   PMID:15489334   PMID:15795121   PMID:16189514   PMID:16638858   PMID:16831889   PMID:16964243   PMID:17192395   PMID:17388661   PMID:17719747   PMID:17786476   PMID:17906640  
PMID:18029348   PMID:18547302   PMID:18936942   PMID:19102940   PMID:19107515   PMID:19199708   PMID:19366057   PMID:19380743   PMID:19460752   PMID:19470054   PMID:19558792   PMID:19615732  
PMID:19701759   PMID:19882246   PMID:20301457   PMID:20618440   PMID:20936779   PMID:21145461   PMID:21287500   PMID:21356351   PMID:21443102   PMID:21565611   PMID:21796151   PMID:22006917  
PMID:22076435   PMID:22235123   PMID:22264670   PMID:22336949   PMID:22466643   PMID:22639854   PMID:22695933   PMID:22795618   PMID:22808266   PMID:22863883   PMID:22939629   PMID:23278621  
PMID:23414517   PMID:23430585   PMID:23455924   PMID:23855588   PMID:24043308   PMID:24051697   PMID:24168496   PMID:24247036   PMID:24335642   PMID:24471966   PMID:24705354   PMID:24711643  
PMID:25111597   PMID:25324306   PMID:25416956   PMID:25713416   PMID:25736868   PMID:26109559   PMID:26165312   PMID:26168014   PMID:26191283   PMID:26217791   PMID:26496610   PMID:26740287  
PMID:26968559   PMID:27065324   PMID:27342126   PMID:27432155   PMID:27512993   PMID:27513074   PMID:27591049   PMID:27816721   PMID:27880917   PMID:27936398   PMID:28027390   PMID:28299464  
PMID:28342001   PMID:28378594   PMID:28515276   PMID:28576737   PMID:28642156   PMID:28685749   PMID:28703907   PMID:28821199   PMID:28977666   PMID:29218738   PMID:29349514   PMID:29507755  
PMID:29563501   PMID:29666398   PMID:29845934   PMID:29859926   PMID:29991674   PMID:30021884   PMID:30066921   PMID:30209976   PMID:30224337   PMID:30413534   PMID:30443013   PMID:30619335  
PMID:30655611   PMID:30737378   PMID:30928404   PMID:31180492   PMID:31237972   PMID:31343991   PMID:31375762   PMID:31598941   PMID:31655037   PMID:31655172   PMID:31754689   PMID:33236603  


Genomics

Comparative Map Data
KRT17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1741,619,442 - 41,624,842 (-)EnsemblGRCh38hg38GRCh38
GRCh381741,619,442 - 41,624,575 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371739,775,692 - 39,780,882 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,029,220 - 37,034,335 (-)NCBINCBI36hg18NCBI36
Build 341737,029,220 - 37,034,335NCBI
Celera1736,428,841 - 36,434,031 (-)NCBI
Cytogenetic Map17q21.2NCBI
HuRef1735,538,739 - 35,543,929 (-)NCBIHuRef
CHM1_11740,011,007 - 40,016,197 (-)NCBICHM1_1
Krt17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911100,147,041 - 100,151,855 (-)NCBIGRCm39mm39
GRCm3811100,256,215 - 100,261,029 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11100,256,217 - 100,261,029 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711100,117,531 - 100,122,303 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611100,072,307 - 100,077,079 (-)NCBImm8
Celera11110,873,531 - 110,878,303 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1163.44NCBI
Krt17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01088,158,993 - 88,163,712 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1088,118,001 - 88,163,723 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01087,952,322 - 87,957,041 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41089,185,097 - 89,189,816 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11089,199,618 - 89,204,133 (-)NCBI
Celera1083,898,003 - 83,902,722 (-)NCBICelera
Cytogenetic Map10q31NCBI
Krt17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545115,940,137 - 15,944,392 (-)NCBIChiLan1.0ChiLan1.0
LOC100976433
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11715,910,681 - 15,916,079 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1715,910,899 - 15,916,079 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01715,692,319 - 15,697,455 (+)NCBIMhudiblu_PPA_v0panPan3
KRT17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl921,156,045 - 21,265,564 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1921,155,007 - 21,161,407 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
KRT17
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11664,615,194 - 64,622,931 (+)NCBI
ChlSab1.1 Ensembl1664,617,219 - 64,622,971 (+)Ensembl

Position Markers
KRT17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,780,724 - 39,780,919UniSTSGRCh37
Build 361737,034,250 - 37,034,445RGDNCBI36
Celera1736,433,873 - 36,434,068RGD
HuRef1735,543,771 - 35,543,966UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1938
Count of miRNA genes:759
Interacting mature miRNAs:914
Transcripts:ENST00000311208, ENST00000463128, ENST00000491673, ENST00000493253, ENST00000577817, ENST00000590038
Prediction methods:Microtar, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 3 4 1 8 1 1 471 1 10 48 25 12 193
Medium 136 988 133 168 23 17 1410 40 311 46 626 331 158 42 1029
Low 1453 705 876 80 765 80 1312 796 2063 161 631 985 3 645 815 3
Below cutoff 812 1231 575 244 876 242 1108 1314 1270 125 132 227 1 1 512 735 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_009090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC130686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP226061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF608068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF608069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF608070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF608071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z19574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311208   ⟹   ENSP00000308452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,619,442 - 41,624,575 (-)Ensembl
RefSeq Acc Id: ENST00000463128   ⟹   ENSP00000468672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,621,026 - 41,624,842 (-)Ensembl
RefSeq Acc Id: ENST00000491673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,622,873 - 41,624,575 (-)Ensembl
RefSeq Acc Id: ENST00000493253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,619,446 - 41,624,296 (-)Ensembl
RefSeq Acc Id: ENST00000540235   ⟹   ENSP00000441751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,619,443 - 41,624,541 (-)Ensembl
RefSeq Acc Id: ENST00000577817   ⟹   ENSP00000467418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,621,627 - 41,624,464 (-)Ensembl
RefSeq Acc Id: ENST00000590038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,621,662 - 41,623,268 (-)Ensembl
RefSeq Acc Id: ENST00000648859   ⟹   ENSP00000497161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,620,180 - 41,620,829 (-)Ensembl
RefSeq Acc Id: ENST00000649249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,619,485 - 41,621,201 (-)Ensembl
RefSeq Acc Id: NM_000422   ⟹   NP_000413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,619,442 - 41,624,575 (-)NCBI
GRCh371739,775,692 - 39,780,882 (-)ENTREZGENE
GRCh371739,775,692 - 39,780,882 (-)NCBI
Build 361737,029,220 - 37,034,335 (-)NCBI Archive
HuRef1735,538,739 - 35,543,929 (-)ENTREZGENE
CHM1_11740,011,007 - 40,016,197 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000413   ⟸   NM_000422
- UniProtKB: Q04695 (UniProtKB/Swiss-Prot),   Q14666 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000468672   ⟸   ENST00000463128
RefSeq Acc Id: ENSP00000497161   ⟸   ENST00000648859
RefSeq Acc Id: ENSP00000308452   ⟸   ENST00000311208
RefSeq Acc Id: ENSP00000467418   ⟸   ENST00000577817
RefSeq Acc Id: ENSP00000441751   ⟸   ENST00000540235
Protein Domains
IF rod

Promoters
RGD ID:6794278
Promoter ID:HG_KWN:26135
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000340966,   OTTHUMT00000257460,   OTTHUMT00000257461,   OTTHUMT00000257462,   OTTHUMT00000257463
Position:
Human AssemblyChrPosition (strand)Source
Build 361737,034,041 - 37,034,541 (-)MPROMDB
RGD ID:7235003
Promoter ID:EPDNEW_H23247
Type:initiation region
Name:KRT17_1
Description:keratin 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23222  EPDNEW_H23223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,624,575 - 41,624,635EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_000422.3(KRT17):c.274A>G (p.Asn92Asp) single nucleotide variant Pachyonychia congenita 2 [RCV000015688]|not provided [RCV000056510] Chr17:41624236 [GRCh38]
Chr17:39780488 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) single nucleotide variant Pachyonychia congenita 2 [RCV000015689]|Pachyonychia congenita syndrome [RCV000788087]|not provided [RCV000056512] Chr17:41624235 [GRCh38]
Chr17:39780487 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|not provided
NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp) single nucleotide variant Pachyonychia congenita 2 [RCV000015690]|not provided [RCV000056521] Chr17:41624218 [GRCh38]
Chr17:39780470 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.274A>C (p.Asn92His) single nucleotide variant Steatocystoma multiplex [RCV000015691]|not provided [RCV000056509] Chr17:41624236 [GRCh38]
Chr17:39780488 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.263T>C (p.Met88Thr) single nucleotide variant Pachyonychia congenita 2 [RCV000015696]|not provided [RCV000056508] Chr17:41624247 [GRCh38]
Chr17:39780499 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del) deletion Pachyonychia congenita 2 [RCV000015697]|not provided [RCV000056514] Chr17:41624215..41624229 [GRCh38]
Chr17:39780467..39780481 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.281G>C (p.Arg94Pro) single nucleotide variant Pachyonychia congenita 2 [RCV000015698]|not provided [RCV000056516] Chr17:41624229 [GRCh38]
Chr17:39780481 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.284T>A (p.Leu95Gln) single nucleotide variant Pachyonychia congenita 2 [RCV000015699]|not provided [RCV000056517] Chr17:41624226 [GRCh38]
Chr17:39780478 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) single nucleotide variant Pachyonychia congenita 2 [RCV000015700]|not provided [RCV000056518] Chr17:41624226 [GRCh38]
Chr17:39780478 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.2(KRT17):c.289_291delTCC (p.Ser97del) deletion Pachyonychia congenita type 2 [RCV000015701]|not provided [RCV000056520] Chr17:41624219..41624221 [GRCh38]
Chr17:39780471..39780473 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.296T>C (p.Leu99Pro) single nucleotide variant Pachyonychia congenita 2 [RCV000015702]|not provided [RCV000056523] Chr17:41624214 [GRCh38]
Chr17:39780466 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.304G>A (p.Val102Met) single nucleotide variant Pachyonychia congenita 2 [RCV000015703]|not provided [RCV000056524] Chr17:41624206 [GRCh38]
Chr17:39780458 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.281G>A (p.Arg94His) single nucleotide variant Pachyonychia congenita 2 [RCV000114414]|Steatocystoma multiplex [RCV000015692]|not provided [RCV000056515] Chr17:41624229 [GRCh38]
Chr17:39780481 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) single nucleotide variant Pachyonychia congenita 2 [RCV000114415]|Steatocystoma multiplex [RCV000015694]|not provided [RCV000056513] Chr17:41624230 [GRCh38]
Chr17:39780482 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
NM_000422.2(KRT17):c.439A>C (p.Thr147Pro) single nucleotide variant Malignant melanoma [RCV000071483] Chr17:41623026 [GRCh38]
Chr17:39779278 [GRCh37]
Chr17:37032804 [NCBI36]
Chr17:17q21.2
not provided
NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro) single nucleotide variant not provided [RCV000056505] Chr17:41620728 [GRCh38]
Chr17:39776980 [GRCh37]
Chr17:17q21.2
not provided
NM_000422.3(KRT17):c.1163T>C (p.Leu388Pro) single nucleotide variant not provided [RCV000056506] Chr17:41620677 [GRCh38]
Chr17:39776929 [GRCh37]
Chr17:17q21.2
not provided
NM_000422.3(KRT17):c.263T>A (p.Met88Lys) single nucleotide variant not provided [RCV000056507] Chr17:41624247 [GRCh38]
Chr17:39780499 [GRCh37]
Chr17:17q21.2
not provided
NM_000422.3(KRT17):c.274_297del (p.Asn92_Leu99del) deletion not provided [RCV000056511] Chr17:41624213..41624236 [GRCh38]
Chr17:39780465..39780488 [GRCh37]
Chr17:17q21.2
not provided
NM_000422.2(KRT17):c.280_294delCGCCTGGCCTCCTAC (p.Arg94_Tyr98del) deletion not provided [RCV000056514] Chr17:41624216..41624230 [GRCh38]
Chr17:39780468..39780482 [GRCh37]
Chr17:17q21.2
not provided
NM_000422.3(KRT17):c.287_298del (p.Ala96_Leu99del) deletion not provided [RCV000056519] Chr17:41624212..41624223 [GRCh38]
Chr17:39780464..39780475 [GRCh37]
Chr17:17q21.2
not provided
NM_000422.3(KRT17):c.295_303del (p.Leu99_Lys101del) deletion not provided [RCV000056522] Chr17:41624207..41624215 [GRCh38]
Chr17:39780459..39780467 [GRCh37]
Chr17:17q21.2
not provided
NM_000422.3(KRT17):c.309T>C (p.Arg103=) single nucleotide variant not provided [RCV000056525] Chr17:41624201 [GRCh38]
Chr17:39780453 [GRCh37]
Chr17:17q21.2
not provided
NM_000422.3(KRT17):c.325A>G (p.Asn109Asp) single nucleotide variant not provided [RCV000056526] Chr17:41624185 [GRCh38]
Chr17:39780437 [GRCh37]
Chr17:17q21.2
not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_000422.3(KRT17):c.287_289CCT[1] (p.Ser97del) microsatellite Pachyonychia congenita 2 [RCV000015701]|not provided [RCV000255904] Chr17:41624218..41624220 [GRCh38]
Chr17:39780470..39780472 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000422.3(KRT17):c.-6G>C single nucleotide variant not specified [RCV000433488] Chr17:41624515 [GRCh38]
Chr17:39780767 [GRCh37]
Chr17:17q21.2
benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000422.3(KRT17):c.960+5G>A single nucleotide variant Anonychia [RCV000626685] Chr17:41620961 [GRCh38]
Chr17:39777213 [GRCh37]
Chr17:17q21.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000422.3(KRT17):c.99C>T (p.Gly33=) single nucleotide variant not provided [RCV000976543] Chr17:41624411 [GRCh38]
Chr17:39780663 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.138C>T (p.Gly46=) single nucleotide variant not provided [RCV000893835] Chr17:41624372 [GRCh38]
Chr17:39780624 [GRCh37]
Chr17:17q21.2
likely benign
NM_000422.3(KRT17):c.16C>T (p.Arg6Cys) single nucleotide variant not provided [RCV000961490] Chr17:41624494 [GRCh38]
Chr17:39780746 [GRCh37]
Chr17:17q21.2
likely benign
NM_000422.3(KRT17):c.508C>T (p.Arg170Cys) single nucleotide variant not provided [RCV000966029] Chr17:41622957 [GRCh38]
Chr17:39779209 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.48C>G (p.Gly16=) single nucleotide variant not provided [RCV000901164] Chr17:41624462 [GRCh38]
Chr17:39780714 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.1271G>A (p.Arg424His) single nucleotide variant not provided [RCV000903034] Chr17:41619622 [GRCh38]
Chr17:39775874 [GRCh37]
Chr17:17q21.2
likely benign
NM_000422.3(KRT17):c.379C>T (p.Pro127Ser) single nucleotide variant not provided [RCV000996533] Chr17:41624131 [GRCh38]
Chr17:39780383 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000422.3(KRT17):c.666C>T (p.His222=) single nucleotide variant not provided [RCV000884893] Chr17:41622361 [GRCh38]
Chr17:39778613 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.784A>T (p.Lys262Ter) single nucleotide variant not provided [RCV000977423] Chr17:41621643 [GRCh38]
Chr17:39777895 [GRCh37]
Chr17:17q21.2
likely benign
NM_000422.3(KRT17):c.762C>T (p.Asn254=) single nucleotide variant not provided [RCV000896201] Chr17:41621665 [GRCh38]
Chr17:39777917 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.606C>T (p.Ala202=) single nucleotide variant not provided [RCV000901851] Chr17:41622421 [GRCh38]
Chr17:39778673 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.447C>G (p.Thr149=) single nucleotide variant not provided [RCV000976649] Chr17:41623018 [GRCh38]
Chr17:39779270 [GRCh37]
Chr17:17q21.2
likely benign
NM_000422.3(KRT17):c.903G>A (p.Ser301=) single nucleotide variant not provided [RCV000892679] Chr17:41621023 [GRCh38]
Chr17:39777275 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.319G>A (p.Glu107Lys) single nucleotide variant not provided [RCV000885318] Chr17:41624191 [GRCh38]
Chr17:39780443 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.834+5G>A single nucleotide variant not provided [RCV000953041] Chr17:41621588 [GRCh38]
Chr17:39777840 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.667G>A (p.Glu223Lys) single nucleotide variant not provided [RCV000947822] Chr17:41622360 [GRCh38]
Chr17:39778612 [GRCh37]
Chr17:17q21.2
benign
NM_000422.3(KRT17):c.568C>T (p.Leu190=) single nucleotide variant not provided [RCV000885748] Chr17:41622459 [GRCh38]
Chr17:39778711 [GRCh37]
Chr17:17q21.2
likely benign
NM_000422.3(KRT17):c.1239A>G (p.Glu413=) single nucleotide variant not provided [RCV000982406] Chr17:41619654 [GRCh38]
Chr17:39775906 [GRCh37]
Chr17:17q21.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6427 AgrOrtholog
COSMIC KRT17 COSMIC
Ensembl Genes ENSG00000128422 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000308452 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000441751 UniProtKB/TrEMBL
  ENSP00000467418 UniProtKB/TrEMBL
  ENSP00000468672 UniProtKB/TrEMBL
  ENSP00000497161 UniProtKB/TrEMBL
Ensembl Transcript ENST00000311208 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000463128 UniProtKB/TrEMBL
  ENST00000540235 UniProtKB/TrEMBL
  ENST00000577817 UniProtKB/TrEMBL
  ENST00000648859 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.1160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000128422 GTEx
HGNC ID HGNC:6427 ENTREZGENE
Human Proteome Map KRT17 Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom_coil1B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3872 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3872 ENTREZGENE
OMIM 148069 OMIM
  167210 OMIM
  184500 OMIM
PANTHER PTHR23239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30214 PharmGKB
PRINTS TYPE1KERATIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IS58_HUMAN UniProtKB/TrEMBL
  F5GWP8_HUMAN UniProtKB/TrEMBL
  K1C17_HUMAN UniProtKB/Swiss-Prot
  K7EPJ9_HUMAN UniProtKB/TrEMBL
  K7ESE1_HUMAN UniProtKB/TrEMBL
  Q04695 ENTREZGENE
  Q14666 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A5Z1M9 UniProtKB/Swiss-Prot
  A5Z1N0 UniProtKB/Swiss-Prot
  A5Z1N1 UniProtKB/Swiss-Prot
  A5Z1N2 UniProtKB/Swiss-Prot
  A6NDV6 UniProtKB/Swiss-Prot
  A6NKQ2 UniProtKB/Swiss-Prot
  Q6IP98 UniProtKB/Swiss-Prot
  Q8N1P6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT17  keratin 17  KRT17  keratin 17, type I  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT17  keratin 17, type I  KRT17  keratin 17  Symbol and/or name change 5135510 APPROVED