KRT84 (keratin 84) - Rat Genome Database

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Gene: KRT84 (keratin 84) Homo sapiens
Analyze
Symbol: KRT84
Name: keratin 84
RGD ID: 1343377
HGNC Page HGNC:6461
Description: Predicted to be a structural constituent of skin epidermis. Predicted to be involved in intermediate filament organization and keratinization. Located in keratin filament.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hard keratin, type II, 4; HB4; K84; keratin 84, type II; keratin, hair, basic, 4; keratin, type II cuticular Hb4; keratin-84; KRTHB4; type II hair keratin 4; type II hair keratin Hb4; type-II keratin Kb24
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
GRCh381252,377,812 - 52,386,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,377,812 - 52,385,652 (-)EnsemblGRCh38hg38GRCh38
GRCh371252,771,596 - 52,779,436 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,057,863 - 51,065,684 (-)NCBINCBI36Build 36hg18NCBI36
Build 341251,057,298 - 51,065,684NCBI
Celera1252,417,750 - 52,425,573 (-)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1249,815,148 - 49,822,969 (-)NCBIHuRef
CHM1_11252,738,243 - 52,746,057 (-)NCBICHM1_1
T2T-CHM13v2.01252,341,722 - 52,350,890 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2431943   PMID:10692104   PMID:12477932   PMID:15489334   PMID:15737194   PMID:16831889   PMID:19380743   PMID:19615732   PMID:21145461   PMID:21873635   PMID:23533145   PMID:24711643  
PMID:26460568   PMID:27591049   PMID:28977666   PMID:29507755   PMID:29845934   PMID:31594818   PMID:32181476   PMID:32203420   PMID:32989256   PMID:35864588   PMID:36526897   PMID:36912080  


Genomics

Comparative Map Data
KRT84
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381252,377,812 - 52,386,977 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,377,812 - 52,385,652 (-)EnsemblGRCh38hg38GRCh38
GRCh371252,771,596 - 52,779,436 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,057,863 - 51,065,684 (-)NCBINCBI36Build 36hg18NCBI36
Build 341251,057,298 - 51,065,684NCBI
Celera1252,417,750 - 52,425,573 (-)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1249,815,148 - 49,822,969 (-)NCBIHuRef
CHM1_11252,738,243 - 52,746,057 (-)NCBICHM1_1
T2T-CHM13v2.01252,341,722 - 52,350,890 (-)NCBIT2T-CHM13v2.0
Krt84
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915101,433,461 - 101,441,255 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl15101,433,461 - 101,441,255 (-)EnsemblGRCm39 Ensembl
GRCm3815101,525,026 - 101,532,820 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15101,525,026 - 101,532,820 (-)EnsemblGRCm38mm10GRCm38
MGSCv3715101,355,457 - 101,363,251 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3615101,353,060 - 101,360,810 (-)NCBIMGSCv36mm8
Celera15103,677,059 - 103,684,855 (-)NCBICelera
Cytogenetic Map15F2NCBI
cM Map1556.9NCBI
Krt84
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87134,527,787 - 134,535,608 (-)NCBIGRCr8
mRatBN7.27132,649,064 - 132,656,885 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7132,649,061 - 132,656,874 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7134,451,116 - 134,458,933 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07136,680,638 - 136,688,455 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07136,590,278 - 136,598,099 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07143,180,212 - 143,187,684 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7143,179,835 - 143,187,648 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07140,981,032 - 140,988,077 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47140,281,992 - 140,287,752 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17140,358,428 - 140,364,189 (-)NCBI
Celera7129,113,991 - 129,119,751 (-)NCBICelera
Cytogenetic Map7q36NCBI
Krt84
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555472,729,046 - 2,737,142 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555472,729,046 - 2,737,142 (-)NCBIChiLan1.0ChiLan1.0
KRT84
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21041,809,385 - 41,817,222 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11241,806,148 - 41,813,985 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01236,376,965 - 36,384,798 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11237,153,987 - 37,161,819 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1237,154,048 - 37,162,672 (+)Ensemblpanpan1.1panPan2
KRT84
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1272,683,826 - 2,692,267 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl272,683,792 - 2,692,267 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2743,561,822 - 43,570,171 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0272,682,898 - 2,691,247 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl272,682,907 - 2,691,312 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1272,699,774 - 2,708,121 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0272,685,309 - 2,693,649 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02743,960,019 - 43,968,406 (-)NCBIUU_Cfam_GSD_1.0
Krt84
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494563,372,488 - 63,381,130 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365129,784,467 - 9,792,289 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365129,784,467 - 9,792,289 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KRT84
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl517,698,336 - 17,707,023 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1517,698,343 - 17,706,976 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2518,008,417 - 18,017,066 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KRT84
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11148,525,364 - 48,535,567 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037197,558,537 - 197,566,783 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Krt84
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624904514,338 - 522,228 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624904514,338 - 522,228 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KRT84
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033045.3(KRT84):c.394C>T (p.Pro132Ser) single nucleotide variant Malignant melanoma [RCV000062525] Chr12:52385192 [GRCh38]
Chr12:52778976 [GRCh37]
Chr12:51065243 [NCBI36]
Chr12:12q13.13
not provided
GRCh38/hg38 12q13.13(chr12:52310983-52385900)x3 copy number gain See cases [RCV000134416] Chr12:52310983..52385900 [GRCh38]
Chr12:52704767..52779684 [GRCh37]
Chr12:50991034..51065951 [NCBI36]
Chr12:12q13.13
benign
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_033045.4(KRT84):c.664C>T (p.Arg222Trp) single nucleotide variant Inborn genetic diseases [RCV003253189] Chr12:52383681 [GRCh38]
Chr12:52777465 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1328G>A (p.Arg443Gln) single nucleotide variant Inborn genetic diseases [RCV003270274] Chr12:52380459 [GRCh38]
Chr12:52774243 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.901C>G (p.Leu301Val) single nucleotide variant Inborn genetic diseases [RCV003256399] Chr12:52382448 [GRCh38]
Chr12:52776232 [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
GRCh37/hg19 12q13.13(chr12:52688766-52786026)x3 copy number gain not provided [RCV000750412] Chr12:52688766..52786026 [GRCh37]
Chr12:12q13.13
benign
NM_033045.4(KRT84):c.976C>T (p.Arg326Cys) single nucleotide variant Inborn genetic diseases [RCV003273001] Chr12:52381462 [GRCh38]
Chr12:52775246 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1163T>A (p.Ile388Asn) single nucleotide variant Inborn genetic diseases [RCV003285288] Chr12:52381120 [GRCh38]
Chr12:52774904 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1618G>A (p.Ala540Thr) single nucleotide variant Inborn genetic diseases [RCV002991282] Chr12:52378219 [GRCh38]
Chr12:52772003 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.232C>T (p.Arg78Cys) single nucleotide variant Inborn genetic diseases [RCV002990201] Chr12:52385354 [GRCh38]
Chr12:52779138 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1478G>T (p.Gly493Val) single nucleotide variant Inborn genetic diseases [RCV002689172] Chr12:52378359 [GRCh38]
Chr12:52772143 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.257G>T (p.Gly86Val) single nucleotide variant Inborn genetic diseases [RCV002992814] Chr12:52385329 [GRCh38]
Chr12:52779113 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.448C>G (p.Leu150Val) single nucleotide variant Inborn genetic diseases [RCV002752587] Chr12:52385138 [GRCh38]
Chr12:52778922 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1387G>A (p.Ala463Thr) single nucleotide variant Inborn genetic diseases [RCV002974072] Chr12:52380400 [GRCh38]
Chr12:52774184 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1205G>A (p.Arg402His) single nucleotide variant Inborn genetic diseases [RCV002684845] Chr12:52380582 [GRCh38]
Chr12:52774366 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1093G>A (p.Val365Met) single nucleotide variant Inborn genetic diseases [RCV002864073] Chr12:52381190 [GRCh38]
Chr12:52774974 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.341G>T (p.Gly114Val) single nucleotide variant Inborn genetic diseases [RCV002732606] Chr12:52385245 [GRCh38]
Chr12:52779029 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1744G>A (p.Gly582Ser) single nucleotide variant Inborn genetic diseases [RCV002844849] Chr12:52378093 [GRCh38]
Chr12:52771877 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.215C>A (p.Pro72His) single nucleotide variant Inborn genetic diseases [RCV002692092] Chr12:52385371 [GRCh38]
Chr12:52779155 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1622C>T (p.Pro541Leu) single nucleotide variant Inborn genetic diseases [RCV002977030] Chr12:52378215 [GRCh38]
Chr12:52771999 [GRCh37]
Chr12:12q13.13
likely benign
NM_033045.4(KRT84):c.1009G>C (p.Val337Leu) single nucleotide variant Inborn genetic diseases [RCV002869911] Chr12:52381429 [GRCh38]
Chr12:52775213 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1748G>A (p.Arg583His) single nucleotide variant Inborn genetic diseases [RCV002782778] Chr12:52378089 [GRCh38]
Chr12:52771873 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.569A>G (p.Asn190Ser) single nucleotide variant Inborn genetic diseases [RCV002703961] Chr12:52383776 [GRCh38]
Chr12:52777560 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1677C>A (p.Ser559Arg) single nucleotide variant Inborn genetic diseases [RCV002798263] Chr12:52378160 [GRCh38]
Chr12:52771944 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.947C>T (p.Thr316Met) single nucleotide variant Inborn genetic diseases [RCV002785050] Chr12:52381491 [GRCh38]
Chr12:52775275 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1720G>C (p.Gly574Arg) single nucleotide variant Inborn genetic diseases [RCV002665016] Chr12:52378117 [GRCh38]
Chr12:52771901 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.83T>C (p.Leu28Pro) single nucleotide variant Inborn genetic diseases [RCV002719101] Chr12:52385503 [GRCh38]
Chr12:52779287 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.793A>G (p.Asn265Asp) single nucleotide variant Inborn genetic diseases [RCV002897836] Chr12:52383028 [GRCh38]
Chr12:52776812 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1741G>A (p.Gly581Ser) single nucleotide variant Inborn genetic diseases [RCV002748195] Chr12:52378096 [GRCh38]
Chr12:52771880 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1613G>A (p.Arg538Gln) single nucleotide variant Inborn genetic diseases [RCV002897625] Chr12:52378224 [GRCh38]
Chr12:52772008 [GRCh37]
Chr12:12q13.13
likely benign
NM_033045.4(KRT84):c.1759G>C (p.Val587Leu) single nucleotide variant Inborn genetic diseases [RCV002718027] Chr12:52378078 [GRCh38]
Chr12:52771862 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1123C>T (p.Arg375Cys) single nucleotide variant Inborn genetic diseases [RCV002719432] Chr12:52381160 [GRCh38]
Chr12:52774944 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1039C>T (p.Arg347Cys) single nucleotide variant Inborn genetic diseases [RCV002677953] Chr12:52381399 [GRCh38]
Chr12:52775183 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1138G>A (p.Glu380Lys) single nucleotide variant Inborn genetic diseases [RCV003299488] Chr12:52381145 [GRCh38]
Chr12:52774929 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.823G>A (p.Asp275Asn) single nucleotide variant Inborn genetic diseases [RCV003178915] Chr12:52382526 [GRCh38]
Chr12:52776310 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1705C>T (p.Pro569Ser) single nucleotide variant Inborn genetic diseases [RCV003190743] Chr12:52378132 [GRCh38]
Chr12:52771916 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1454T>C (p.Ile485Thr) single nucleotide variant Inborn genetic diseases [RCV003205273] Chr12:52379878 [GRCh38]
Chr12:52773662 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1130T>A (p.Ile377Lys) single nucleotide variant Inborn genetic diseases [RCV003208463] Chr12:52381153 [GRCh38]
Chr12:52774937 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1298C>A (p.Ala433Asp) single nucleotide variant Inborn genetic diseases [RCV003216224] Chr12:52380489 [GRCh38]
Chr12:52774273 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.658A>T (p.Asn220Tyr) single nucleotide variant Inborn genetic diseases [RCV003265783] Chr12:52383687 [GRCh38]
Chr12:52777471 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1157G>A (p.Arg386His) single nucleotide variant Inborn genetic diseases [RCV003350515] Chr12:52381126 [GRCh38]
Chr12:52774910 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.913G>A (p.Glu305Lys) single nucleotide variant Inborn genetic diseases [RCV003368437] Chr12:52381525 [GRCh38]
Chr12:52775309 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.1322T>C (p.Met441Thr) single nucleotide variant Inborn genetic diseases [RCV003371157] Chr12:52380465 [GRCh38]
Chr12:52774249 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_033045.4(KRT84):c.663G>T (p.Leu221=) single nucleotide variant not provided [RCV003391836] Chr12:52383682 [GRCh38]
Chr12:52777466 [GRCh37]
Chr12:12q13.13
likely benign
NM_033045.4(KRT84):c.541G>T (p.Asp181Tyr) single nucleotide variant not provided [RCV003391837] Chr12:52385045 [GRCh38]
Chr12:52778829 [GRCh37]
Chr12:12q13.13
likely benign
NM_033045.4(KRT84):c.211C>T (p.Arg71Trp) single nucleotide variant not provided [RCV003391838] Chr12:52385375 [GRCh38]
Chr12:52779159 [GRCh37]
Chr12:12q13.13
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:335
Count of miRNA genes:290
Interacting mature miRNAs:304
Transcripts:ENST00000257951
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-146512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,774,971 - 52,775,271UniSTSGRCh37
Build 361251,061,238 - 51,061,538RGDNCBI36
Celera1252,421,124 - 52,421,424RGD
Cytogenetic Map12q13UniSTS
HuRef1249,818,523 - 49,818,823UniSTS
TNG Radiation Hybrid Map1224141.0UniSTS


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
High
Medium 1 42 6 1 2 11
Low 12 25 2 264 2 30 6 28 9 1 4 115
Below cutoff 847 822 579 123 388 48 1821 539 1432 43 733 506 79 494 1142

Sequence


RefSeq Acc Id: ENST00000257951   ⟹   ENSP00000257951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,377,812 - 52,385,652 (-)Ensembl
RefSeq Acc Id: NM_033045   ⟹   NP_149034
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,377,812 - 52,385,652 (-)NCBI
GRCh371252,771,596 - 52,779,417 (-)RGD
Build 361251,057,863 - 51,065,684 (-)NCBI Archive
Celera1252,417,750 - 52,425,573 (-)RGD
HuRef1249,815,148 - 49,822,969 (-)RGD
CHM1_11252,738,243 - 52,746,057 (-)NCBI
T2T-CHM13v2.01252,341,722 - 52,349,565 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011538335   ⟹   XP_011536637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,377,812 - 52,386,977 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054372043   ⟹   XP_054228018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01252,341,722 - 52,350,890 (-)NCBI
RefSeq Acc Id: NP_149034   ⟸   NM_033045
- UniProtKB: Q6ISB0 (UniProtKB/Swiss-Prot),   B2RA43 (UniProtKB/Swiss-Prot),   Q701L6 (UniProtKB/Swiss-Prot),   Q9NSB2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536637   ⟸   XM_011538335
- Peptide Label: isoform X1
- UniProtKB: Q6ISB0 (UniProtKB/Swiss-Prot),   B2RA43 (UniProtKB/Swiss-Prot),   Q701L6 (UniProtKB/Swiss-Prot),   Q9NSB2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000257951   ⟸   ENST00000257951
RefSeq Acc Id: XP_054228018   ⟸   XM_054372043
- Peptide Label: isoform X1
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NSB2-F1-model_v2 AlphaFold Q9NSB2 1-600 view protein structure

Promoters
RGD ID:7224005
Promoter ID:EPDNEW_H17748
Type:single initiation site
Name:KRT84_1
Description:keratin 84
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,385,652 - 52,385,712EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6461 AgrOrtholog
COSMIC KRT84 COSMIC
Ensembl Genes ENSG00000161849 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000257951 ENTREZGENE
  ENST00000257951.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
  Single helix bin UniProtKB/Swiss-Prot
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot
GTEx ENSG00000161849 GTEx
HGNC ID HGNC:6461 ENTREZGENE
Human Proteome Map KRT84 Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot
  IF_rod_dom UniProtKB/Swiss-Prot
  Keratin_2_head UniProtKB/Swiss-Prot
  Keratin_II UniProtKB/Swiss-Prot
KEGG Report hsa:3890 UniProtKB/Swiss-Prot
NCBI Gene 3890 ENTREZGENE
OMIM 602766 OMIM
PANTHER GATA-TYPE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  KERATIN, TYPE II CUTICULAR HB4 UniProtKB/Swiss-Prot
Pfam Filament UniProtKB/Swiss-Prot
  Keratin_2_head UniProtKB/Swiss-Prot
PharmGKB PA30250 PharmGKB
PRINTS TYPE2KERATIN UniProtKB/Swiss-Prot
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot
  IF_ROD_2 UniProtKB/Swiss-Prot
SMART Filament UniProtKB/Swiss-Prot
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot
UniProt B2RA43 ENTREZGENE
  KRT84_HUMAN UniProtKB/Swiss-Prot
  Q6ISB0 ENTREZGENE
  Q701L6 ENTREZGENE
  Q9NSB2 ENTREZGENE
UniProt Secondary B2RA43 UniProtKB/Swiss-Prot
  Q6ISB0 UniProtKB/Swiss-Prot
  Q701L6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT84  keratin 84  KRT84  keratin 84, type II  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT84  keratin 84, type II  KRT84  keratin 84  Symbol and/or name change 5135510 APPROVED