KRT80 (keratin 80) - Rat Genome Database

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Gene: KRT80 (keratin 80) Homo sapiens
Analyze
Symbol: KRT80
Name: keratin 80
RGD ID: 1606454
HGNC Page HGNC:27056
Description: Predicted to be a structural constituent of skin epidermis. Predicted to be involved in intermediate filament organization and keratinization. Located in cytoplasm and intermediate filament.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CK-80; cytokeratin-80; K80; KB20; keratin 80, type II; keratin b20; keratin, type II cytoskeletal 80; keratin-80; type II keratin; type-II keratin Kb20
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381252,168,996 - 52,192,014 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,168,996 - 52,192,014 (-)EnsemblGRCh38hg38GRCh38
GRCh371252,562,780 - 52,585,798 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361250,849,047 - 50,872,051 (-)NCBINCBI36Build 36hg18NCBI36
Celera1251,365,224 - 51,388,227 (-)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1249,596,065 - 49,619,064 (-)NCBIHuRef
CHM1_11252,529,044 - 52,552,043 (-)NCBICHM1_1
T2T-CHM13v2.01252,132,581 - 52,155,594 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
7,12-dimethyltetraphene  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
Archazolid B  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP)
ethylparaben  (EXP)
etoposide  (EXP)
gentamycin  (ISO)
hexadecanoic acid  (EXP)
hydroquinone  (EXP)
lipopolysaccharide  (EXP)
metformin  (EXP)
methamphetamine  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
N-nitrosodiethylamine  (EXP)
nicotine  (EXP)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
propanal  (EXP)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
valproic acid  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15737194   PMID:16831889   PMID:17207965   PMID:20843789   PMID:21145461   PMID:21654808   PMID:21800051   PMID:21873635   PMID:24465473   PMID:24711643   PMID:25324306  
PMID:25416956   PMID:25476789   PMID:26181054   PMID:26618866   PMID:27591049   PMID:28007894   PMID:28977666   PMID:29507755   PMID:29563501   PMID:29844126   PMID:29845934   PMID:29911972  
PMID:30262880   PMID:30561431   PMID:30737378   PMID:31073170   PMID:32296183   PMID:32687490   PMID:32780723   PMID:32989256   PMID:33961781   PMID:34445801   PMID:34537242   PMID:35013556  
PMID:35474131   PMID:35748914   PMID:35831895   PMID:35864588   PMID:35944360   PMID:36057605   PMID:36217029   PMID:36526897   PMID:36604567   PMID:37120454   PMID:37129345   PMID:37211956  
PMID:37782686   PMID:38241178  


Genomics

Comparative Map Data
KRT80
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381252,168,996 - 52,192,014 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,168,996 - 52,192,014 (-)EnsemblGRCh38hg38GRCh38
GRCh371252,562,780 - 52,585,798 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361250,849,047 - 50,872,051 (-)NCBINCBI36Build 36hg18NCBI36
Celera1251,365,224 - 51,388,227 (-)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1249,596,065 - 49,619,064 (-)NCBIHuRef
CHM1_11252,529,044 - 52,552,043 (-)NCBICHM1_1
T2T-CHM13v2.01252,132,581 - 52,155,594 (-)NCBIT2T-CHM13v2.0
Krt80
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915101,246,196 - 101,268,043 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl15101,245,325 - 101,268,043 (-)EnsemblGRCm39 Ensembl
GRCm3815101,348,315 - 101,370,162 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15101,347,444 - 101,370,162 (-)EnsemblGRCm38mm10GRCm38
MGSCv3715101,180,002 - 101,200,556 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3615101,175,481 - 101,198,366 (-)NCBIMGSCv36mm8
Celera15103,497,804 - 103,518,340 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1556.78NCBI
Krt80
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87134,341,951 - 134,363,872 (-)NCBIGRCr8
mRatBN7.27132,463,216 - 132,485,134 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7132,463,218 - 132,485,508 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7134,266,548 - 134,286,776 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07136,496,053 - 136,516,283 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07136,405,779 - 136,426,014 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07142,995,715 - 143,015,932 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7142,994,119 - 143,016,040 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07140,796,567 - 140,816,784 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47140,096,091 - 140,115,890 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17140,172,527 - 140,192,327 (-)NCBI
Celera7128,929,953 - 128,950,211 (-)NCBICelera
Cytogenetic Map7q36NCBI
Krt80
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555472,511,235 - 2,531,630 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555472,511,235 - 2,531,631 (-)NCBIChiLan1.0ChiLan1.0
KRT80
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21042,003,383 - 42,026,325 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11242,000,161 - 42,023,088 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01236,561,484 - 36,593,887 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11237,348,186 - 37,371,250 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1237,348,186 - 37,371,250 (+)Ensemblpanpan1.1panPan2
KRT80
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1272,862,179 - 2,883,727 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl272,860,735 - 2,884,680 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2743,371,083 - 43,392,776 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0272,860,345 - 2,882,050 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl272,859,091 - 2,882,086 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1272,877,103 - 2,898,785 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0272,863,095 - 2,884,772 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02743,769,282 - 43,790,971 (-)NCBIUU_Cfam_GSD_1.0
Krt80
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494563,565,725 - 63,587,967 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365129,576,851 - 9,599,037 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365129,576,867 - 9,599,050 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KRT80
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl517,482,460 - 17,508,513 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1517,482,454 - 17,506,462 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KRT80
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11148,316,539 - 48,339,552 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1148,315,946 - 48,338,923 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037197,752,635 - 197,775,923 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Krt80
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624816177,066 - 197,698 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624816176,804 - 197,612 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KRT80
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1 copy number loss See cases [RCV000140716] Chr12:50633888..52851909 [GRCh38]
Chr12:51027671..53245693 [GRCh37]
Chr12:49313938..51531960 [NCBI36]
Chr12:12q13.12-13.13		 pathogenic
GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1 copy number loss See cases [RCV000142033] Chr12:50122359..53248460 [GRCh38]
Chr12:50516142..53642244 [GRCh37]
Chr12:48802409..51928511 [NCBI36]
Chr12:12q13.12-13.13		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_182507.3(KRT80):c.134G>C (p.Ser45Thr) single nucleotide variant Inborn genetic diseases [RCV003279356] Chr12:52191769 [GRCh38]
Chr12:52585553 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.273T>G (p.Asn91Lys) single nucleotide variant Inborn genetic diseases [RCV003276662] Chr12:52191630 [GRCh38]
Chr12:52585414 [GRCh37]
Chr12:12q13.13		 uncertain significance
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_182507.3(KRT80):c.727C>T (p.Arg243Cys) single nucleotide variant not provided [RCV000963584] Chr12:52173704 [GRCh38]
Chr12:52567488 [GRCh37]
Chr12:12q13.13		 benign
NM_182507.3(KRT80):c.431G>A (p.Arg144His) single nucleotide variant Inborn genetic diseases [RCV003241315] Chr12:52185457 [GRCh38]
Chr12:52579241 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.712G>A (p.Val238Ile) single nucleotide variant not provided [RCV000967268] Chr12:52173719 [GRCh38]
Chr12:52567503 [GRCh37]
Chr12:12q13.13		 benign
NM_182507.3(KRT80):c.430C>T (p.Arg144Cys) single nucleotide variant not provided [RCV000889082] Chr12:52185458 [GRCh38]
Chr12:52579242 [GRCh37]
Chr12:12q13.13		 benign
NM_182507.3(KRT80):c.379G>A (p.Asp127Asn) single nucleotide variant Inborn genetic diseases [RCV002969328] Chr12:52185509 [GRCh38]
Chr12:52579293 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.886C>T (p.Arg296Cys) single nucleotide variant Inborn genetic diseases [RCV002993190] Chr12:52173109 [GRCh38]
Chr12:52566893 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.320G>A (p.Arg107His) single nucleotide variant Inborn genetic diseases [RCV002992048] Chr12:52185568 [GRCh38]
Chr12:52579352 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.1331T>G (p.Phe444Cys) single nucleotide variant Inborn genetic diseases [RCV002884137] Chr12:52171426 [GRCh38]
Chr12:52565210 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.898G>A (p.Ala300Thr) single nucleotide variant Inborn genetic diseases [RCV002841509] Chr12:52173097 [GRCh38]
Chr12:52566881 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.143G>A (p.Gly48Asp) single nucleotide variant Inborn genetic diseases [RCV002659854] Chr12:52191760 [GRCh38]
Chr12:52585544 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.891C>A (p.Ser297Arg) single nucleotide variant Inborn genetic diseases [RCV002759037] Chr12:52173104 [GRCh38]
Chr12:52566888 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.383T>C (p.Leu128Pro) single nucleotide variant Inborn genetic diseases [RCV002892360] Chr12:52185505 [GRCh38]
Chr12:52579289 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.553T>C (p.Phe185Leu) single nucleotide variant Inborn genetic diseases [RCV002893653] Chr12:52180920 [GRCh38]
Chr12:52574704 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.1330T>G (p.Phe444Val) single nucleotide variant Inborn genetic diseases [RCV002983269] Chr12:52171427 [GRCh38]
Chr12:52565211 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.73C>T (p.Arg25Trp) single nucleotide variant Inborn genetic diseases [RCV002986360] Chr12:52191830 [GRCh38]
Chr12:52585614 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.1182G>A (p.Met394Ile) single nucleotide variant Inborn genetic diseases [RCV002673998] Chr12:52171710 [GRCh38]
Chr12:52565494 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.314A>T (p.Glu105Val) single nucleotide variant Inborn genetic diseases [RCV002965300] Chr12:52185574 [GRCh38]
Chr12:52579358 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.596G>A (p.Arg199Gln) single nucleotide variant Inborn genetic diseases [RCV003008573] Chr12:52180583 [GRCh38]
Chr12:52574367 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.716G>A (p.Gly239Asp) single nucleotide variant Inborn genetic diseases [RCV002879298] Chr12:52173715 [GRCh38]
Chr12:52567499 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.1081C>T (p.Arg361Trp) single nucleotide variant Inborn genetic diseases [RCV002668449] Chr12:52172295 [GRCh38]
Chr12:52566079 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.232C>A (p.Gln78Lys) single nucleotide variant Inborn genetic diseases [RCV002723851] Chr12:52191671 [GRCh38]
Chr12:52585455 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.1036G>T (p.Ala346Ser) single nucleotide variant Inborn genetic diseases [RCV002678866] Chr12:52172340 [GRCh38]
Chr12:52566124 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.1210G>A (p.Ala404Thr) single nucleotide variant Inborn genetic diseases [RCV002655810] Chr12:52171682 [GRCh38]
Chr12:52565466 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.449G>A (p.Arg150Gln) single nucleotide variant Inborn genetic diseases [RCV002814009] Chr12:52185439 [GRCh38]
Chr12:52579223 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.1235C>T (p.Ala412Val) single nucleotide variant Inborn genetic diseases [RCV003280467] Chr12:52171522 [GRCh38]
Chr12:52565306 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.524T>C (p.Ile175Thr) single nucleotide variant Inborn genetic diseases [RCV003188417] Chr12:52180949 [GRCh38]
Chr12:52574733 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.853T>A (p.Ser285Thr) single nucleotide variant Inborn genetic diseases [RCV003186582] Chr12:52173142 [GRCh38]
Chr12:52566926 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.26G>A (p.Gly9Asp) single nucleotide variant Inborn genetic diseases [RCV003207198] Chr12:52191877 [GRCh38]
Chr12:52585661 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.13T>C (p.Ser5Pro) single nucleotide variant Inborn genetic diseases [RCV003377047] Chr12:52191890 [GRCh38]
Chr12:52585674 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.486G>T (p.Glu162Asp) single nucleotide variant Inborn genetic diseases [RCV003347019] Chr12:52185402 [GRCh38]
Chr12:52579186 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.74G>A (p.Arg25Gln) single nucleotide variant Inborn genetic diseases [RCV003355974]|KRT80-related condition [RCV003901019] Chr12:52191829 [GRCh38]
Chr12:52585613 [GRCh37]
Chr12:12q13.13		 likely benign|uncertain significance
NM_182507.3(KRT80):c.1082G>A (p.Arg361Gln) single nucleotide variant Inborn genetic diseases [RCV003348008] Chr12:52172294 [GRCh38]
Chr12:52566078 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_182507.3(KRT80):c.233A>T (p.Gln78Leu) single nucleotide variant Inborn genetic diseases [RCV003366271] Chr12:52191670 [GRCh38]
Chr12:52585454 [GRCh37]
Chr12:12q13.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3321
Count of miRNA genes:850
Interacting mature miRNAs:1003
Transcripts:ENST00000313234, ENST00000394815, ENST00000466011
Prediction methods:Miranda, Rnahybrid, Targetscan
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.

Markers in Region
SHGC-156072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,581,409 - 52,581,695UniSTSGRCh37
Build 361250,867,676 - 50,867,962RGDNCBI36
Celera1251,383,852 - 51,384,138RGD
Cytogenetic Map12q13.13UniSTS
HuRef1249,614,689 - 49,614,975UniSTS
TNG Radiation Hybrid Map1224301.0UniSTS


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 entire extraembryonic component pharyngeal arch
High 3
Medium 157 4 142 190 10 43 1352 44 49 120 344 387 160 6 717 2
Low 516 1078 1113 166 180 154 785 519 331 249 758 1101 11 362 659 1 1
Below cutoff 1734 1862 439 241 1188 241 2159 1605 3056 45 349 112 1 830 1402 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000313234   ⟹   ENSP00000369361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,168,996 - 52,192,000 (-)Ensembl
RefSeq Acc Id: ENST00000394815   ⟹   ENSP00000378292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,168,996 - 52,192,014 (-)Ensembl
RefSeq Acc Id: ENST00000466011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,169,523 - 52,185,749 (-)Ensembl
RefSeq Acc Id: NM_001081492   ⟹   NP_001074961
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,168,996 - 52,192,014 (-)NCBI
GRCh371252,562,780 - 52,585,798 (-)NCBI
Build 361250,849,047 - 50,872,051 (-)NCBI Archive
Celera1251,365,224 - 51,388,227 (-)RGD
HuRef1249,596,065 - 49,619,064 (-)RGD
CHM1_11252,529,044 - 52,552,043 (-)NCBI
T2T-CHM13v2.01252,132,581 - 52,155,594 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182507   ⟹   NP_872313
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,168,996 - 52,192,014 (-)NCBI
GRCh371252,562,780 - 52,585,798 (-)NCBI
Build 361250,849,047 - 50,872,051 (-)NCBI Archive
Celera1251,365,224 - 51,388,227 (-)RGD
HuRef1249,596,065 - 49,619,064 (-)RGD
CHM1_11252,529,044 - 52,552,043 (-)NCBI
T2T-CHM13v2.01252,132,581 - 52,155,594 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005268676   ⟹   XP_005268733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,168,996 - 52,185,749 (-)NCBI
GRCh371252,562,780 - 52,585,798 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054371193   ⟹   XP_054227168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01252,132,581 - 52,149,278 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001074961   ⟸   NM_001081492
- Peptide Label: isoform K80.1
- UniProtKB: Q6KB66 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_872313   ⟸   NM_182507
- Peptide Label: isoform K80
- UniProtKB: Q6P1A5 (UniProtKB/Swiss-Prot),   Q7Z3Q0 (UniProtKB/Swiss-Prot),   Q6KB66 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005268733   ⟸   XM_005268676
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000369361   ⟸   ENST00000313234
RefSeq Acc Id: ENSP00000378292   ⟸   ENST00000394815
RefSeq Acc Id: XP_054227168   ⟸   XM_054371193
- Peptide Label: isoform X1
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6KB66-F1-model_v2 AlphaFold Q6KB66 1-452 view protein structure

Promoters
RGD ID:6790183
Promoter ID:HG_KWN:15684
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000316758
Position:
Human AssemblyChrPosition (strand)Source
Build 361250,865,821 - 50,866,321 (-)MPROMDB
RGD ID:6790184
Promoter ID:HG_KWN:15685
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001081492,   NM_182507
Position:
Human AssemblyChrPosition (strand)Source
Build 361250,871,771 - 50,872,271 (-)MPROMDB
RGD ID:7223987
Promoter ID:EPDNEW_H17739
Type:initiation region
Name:KRT80_1
Description:keratin 80
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17740  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,192,014 - 52,192,074EPDNEW
RGD ID:7223989
Promoter ID:EPDNEW_H17740
Type:initiation region
Name:KRT80_2
Description:keratin 80
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17739  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,192,305 - 52,192,365EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27056 AgrOrtholog
COSMIC KRT80 COSMIC
Ensembl Genes ENSG00000167767 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000313234 ENTREZGENE
  ENST00000313234.9 UniProtKB/Swiss-Prot
  ENST00000394815 ENTREZGENE
  ENST00000394815.3 UniProtKB/Swiss-Prot
  ENST00000466011 ENTREZGENE
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
  Single helix bin UniProtKB/Swiss-Prot
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot
GTEx ENSG00000167767 GTEx
HGNC ID HGNC:27056 ENTREZGENE
Human Proteome Map KRT80 Human Proteome Map
InterPro IF_rod_dom UniProtKB/Swiss-Prot
  Keratin_II UniProtKB/Swiss-Prot
KEGG Report hsa:144501 UniProtKB/Swiss-Prot
NCBI Gene 144501 ENTREZGENE
OMIM 611161 OMIM
PANTHER GATA-TYPE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  KERATIN, TYPE II CYTOSKELETAL 80 UniProtKB/Swiss-Prot
Pfam Filament UniProtKB/Swiss-Prot
PharmGKB PA147357831 PharmGKB
PRINTS TYPE2KERATIN UniProtKB/Swiss-Prot
PROSITE IF_ROD_2 UniProtKB/Swiss-Prot
SMART Filament UniProtKB/Swiss-Prot
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot
UniProt K2C80_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P1A5 ENTREZGENE
  Q7Z3Q0 ENTREZGENE
UniProt Secondary Q6P1A5 UniProtKB/Swiss-Prot
  Q7Z3Q0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT80  keratin 80    keratin 80, type II  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT80  keratin 80, type II    keratin 80  Symbol and/or name change 5135510 APPROVED