KRT6A (keratin 6A) - Rat Genome Database

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Gene: KRT6A (keratin 6A) Homo sapiens
Analyze
Symbol: KRT6A
Name: keratin 6A
RGD ID: 1346482
HGNC Page HGNC
Description: Involved in several processes, including defense response to other organism; negative regulation of cytolysis by symbiont of host cells; and negative regulation of entry of bacterium into host cell. Located in extracellular exosome; membrane; and nucleus. Implicated in pachyonychia congenita.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CK-6C; CK-6E; CK6A; CK6C; CK6D; cytokeratin 6A; cytokeratin 6C; cytokeratin 6D; cytokeratin-6C; cytokeratin-6E; K6A; K6C; K6D; kamp-keratin derived antimicrobial peptide; KDAMP; keratin 6A, , type II; keratin 6A, type II; keratin 6D; keratin K6h; keratin, epidermal type II, K6A; keratin, type II cytoskeletal 6A; keratin, type II cytoskeletal 6C; keratin-6C; KRT6C; KRT6D; PC3; type-II keratin Kb12; type-II keratin Kb6
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
GRCh38.p13 Ensembl1252,487,176 - 52,493,257 (-)EnsemblGRCh38hg38GRCh38
GRCh381252,487,176 - 52,493,257 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371252,880,960 - 52,887,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,167,225 - 51,173,448 (-)NCBINCBI36hg18NCBI36
Build 341251,167,243 - 51,173,287NCBI
Celera1252,527,198 - 52,533,425 (-)NCBI
Cytogenetic Map12q13.13NCBI
HuRef1249,924,865 - 49,931,092 (-)NCBIHuRef
CHM1_11252,847,818 - 52,854,045 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:1713141   PMID:6191871   PMID:7525601   PMID:7543104   PMID:7545493   PMID:9054461   PMID:11886499   PMID:12477932   PMID:15174051   PMID:15489334   PMID:15731013   PMID:15731017  
PMID:15737194   PMID:16189514   PMID:16344560   PMID:16831889   PMID:17650314   PMID:17719747   PMID:18489596   PMID:19199708   PMID:19380743   PMID:19416275   PMID:19699613   PMID:19720911  
PMID:19806570   PMID:19946888   PMID:20140871   PMID:20301457   PMID:20403371   PMID:20470930   PMID:21145461   PMID:21554383   PMID:21565611   PMID:21630459   PMID:22020285   PMID:22098151  
PMID:22119785   PMID:22264670   PMID:22623428   PMID:22668561   PMID:23006328   PMID:23075894   PMID:23398456   PMID:23455924   PMID:23533145   PMID:23662636   PMID:24326984   PMID:24457600  
PMID:24623722   PMID:24639526   PMID:24708461   PMID:24711643   PMID:25324306   PMID:25416956   PMID:25910212   PMID:26496610   PMID:26871637   PMID:26949739   PMID:27041546   PMID:27229929  
PMID:27545878   PMID:27591049   PMID:27609421   PMID:28515276   PMID:28977666   PMID:29191848   PMID:29357356   PMID:29507755   PMID:29563501   PMID:29587848   PMID:29795372   PMID:29845934  
PMID:29884220   PMID:29892012   PMID:30559450   PMID:30719818   PMID:30737378   PMID:30896882   PMID:31004504   PMID:31343991   PMID:31501420   PMID:31515488   PMID:31527668   PMID:31862882  
PMID:32041737   PMID:32162441   PMID:32296183   PMID:32329414   PMID:32780723   PMID:32814053   PMID:32877691   PMID:32989256   PMID:33086575   PMID:33194618   PMID:33435173  


Genomics

Comparative Map Data
KRT6A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1252,487,176 - 52,493,257 (-)EnsemblGRCh38hg38GRCh38
GRCh381252,487,176 - 52,493,257 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371252,880,960 - 52,887,041 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,167,225 - 51,173,448 (-)NCBINCBI36hg18NCBI36
Build 341251,167,243 - 51,173,287NCBI
Celera1252,527,198 - 52,533,425 (-)NCBI
Cytogenetic Map12q13.13NCBI
HuRef1249,924,865 - 49,931,092 (-)NCBIHuRef
CHM1_11252,847,818 - 52,854,045 (-)NCBICHM1_1
Krt6a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915101,598,363 - 101,602,740 (-)NCBIGRCm39mm39
GRCm39 Ensembl15101,598,345 - 101,602,742 (-)Ensembl
GRCm3815101,689,928 - 101,694,305 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15101,689,910 - 101,694,307 (-)EnsemblGRCm38mm10GRCm38
MGSCv3715101,520,359 - 101,524,736 (-)NCBIGRCm37mm9NCBIm37
MGSCv3615101,517,962 - 101,522,339 (-)NCBImm8
Celera15103,843,812 - 103,848,189 (-)NCBICelera
Cytogenetic Map15F2NCBI
cM Map1556.97NCBI
Krt6a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27132,829,278 - 132,833,665 (-)NCBI
Krt6a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555472,902,962 - 2,907,670 (-)NCBIChiLan1.0ChiLan1.0
KRT6A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11237,048,390 - 37,054,607 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1237,048,390 - 37,054,607 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01236,270,961 - 36,277,035 (+)NCBIMhudiblu_PPA_v0panPan3
LOC486523
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1272,609,414 - 2,623,810 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2743,630,209 - 43,644,448 (-)NCBI
ROS_Cfam_1.0272,607,992 - 2,613,493 (+)NCBI
UMICH_Zoey_3.1272,625,515 - 2,631,019 (+)NCBI
UNSW_CanFamBas_1.0272,610,753 - 2,625,394 (+)NCBI
UU_Cfam_GSD_1.02744,028,444 - 44,042,667 (-)NCBI
Krt6a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494563,256,954 - 63,261,682 (+)NCBI
SpeTri2.0NW_0049365129,903,206 - 9,908,009 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KRT6A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl517,780,928 - 17,868,402 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1517,830,147 - 17,851,113 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2518,185,925 - 18,188,037 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103238356
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11148,636,023 - 48,643,854 (-)NCBI
ChlSab1.1 Ensembl1148,636,573 - 48,642,096 (-)Ensembl
Vero_WHO_p1.0NW_0236670107 - 5,553 (-)NCBI
Krt6a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624904631,684 - 639,693 (-)NCBI

Position Markers
RH119759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,887,583 - 52,887,862UniSTSGRCh37
Build 361251,173,850 - 51,174,129RGDNCBI36
Celera1252,533,827 - 52,534,106RGD
Cytogenetic Map12q13.13UniSTS
HuRef1249,931,494 - 49,931,773UniSTS
TNG Radiation Hybrid Map1224577.0UniSTS
D12S761  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1252,527,260 - 52,527,621RGD
Cytogenetic Map12q13.13UniSTS
G64265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,880,931 - 52,881,082UniSTSGRCh37
Build 361251,167,198 - 51,167,349RGDNCBI36
Celera1252,527,171 - 52,527,322RGD
Cytogenetic Map12q13.13UniSTS
HuRef1249,924,838 - 49,924,989UniSTS
KRT6A_7810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,880,819 - 52,881,524UniSTSGRCh37
Build 361251,167,086 - 51,167,791RGDNCBI36
Celera1252,527,059 - 52,527,764RGD
HuRef1249,924,726 - 49,925,431UniSTS
D12S1938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,881,106 - 52,881,445UniSTSGRCh37
Build 361251,167,373 - 51,167,712RGDNCBI36
Celera1252,527,346 - 52,527,685RGD
Cytogenetic Map12q13.13UniSTS
HuRef1249,925,013 - 49,925,352UniSTS
Whitehead-YAC Contig Map12 UniSTS
RH17580  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1252,527,500 - 52,527,621RGD
Cytogenetic Map12q13.13UniSTS
GeneMap99-GB4 RH Map12225.96UniSTS
NCBI RH Map12420.0UniSTS
SHGC-35512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,862,595 - 52,862,817UniSTSGRCh37
Build 361251,148,862 - 51,149,084RGDNCBI36
Celera1252,508,835 - 52,509,057RGD
Cytogenetic Map12q13.13UniSTS
HuRef1249,906,493 - 49,906,715UniSTS
Stanford-G3 RH Map122140.0UniSTS
GeneMap99-GB4 RH Map12227.97UniSTS
Whitehead-RH Map12317.2UniSTS
NCBI RH Map12442.2UniSTS
GeneMap99-G3 RH Map122086.0UniSTS
RH17657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371252,881,082 - 52,881,223UniSTSGRCh37
Build 361251,167,349 - 51,167,490RGDNCBI36
Celera1252,527,322 - 52,527,463RGD
Cytogenetic Map12q13.13UniSTS
HuRef1249,924,989 - 49,925,130UniSTS
GeneMap99-GB4 RH Map12222.4UniSTS
NCBI RH Map12430.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1063
Count of miRNA genes:582
Interacting mature miRNAs:622
Transcripts:ENST00000330722, ENST00000548735, ENST00000549600, ENST00000549754, ENST00000549898
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 adipose tissue appendage entire extraembryonic component
High 3 33 1 217 1 7 124 41 39 77
Medium 133 39 54 77 19 6 1158 105 51 14 184 141 75 78 653
Low 1687 1588 1117 241 710 187 1427 1227 1652 85 956 987 59 752 1062 1
Below cutoff 538 1231 316 76 470 76 1225 766 1717 74 127 301 353 932 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC055736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG059253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA451441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V01516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000330722   ⟹   ENSP00000369317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1252,487,176 - 52,493,257 (-)Ensembl
RefSeq Acc Id: ENST00000548735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1252,489,896 - 52,490,622 (-)Ensembl
RefSeq Acc Id: ENST00000549600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1252,490,035 - 52,491,157 (-)Ensembl
RefSeq Acc Id: ENST00000549754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1252,490,280 - 52,491,625 (-)Ensembl
RefSeq Acc Id: ENST00000549898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1252,489,977 - 52,492,709 (-)Ensembl
RefSeq Acc Id: NM_005554   ⟹   NP_005545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,487,176 - 52,493,257 (-)NCBI
GRCh371252,880,958 - 52,887,181 (-)ENTREZGENE
Build 361251,167,225 - 51,173,448 (-)NCBI Archive
HuRef1249,924,865 - 49,931,092 (-)ENTREZGENE
CHM1_11252,847,818 - 52,854,045 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005545   ⟸   NM_005554
- UniProtKB: P02538 (UniProtKB/Swiss-Prot),   A0A0S2Z428 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000369317   ⟸   ENST00000330722
Protein Domains
IF rod   Keratin_2_head

Promoters
RGD ID:7224015
Promoter ID:EPDNEW_H17754
Type:initiation region
Name:KRT6A_1
Description:keratin 6A
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
GRCh381252,493,257 - 52,493,317EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005554.4(KRT6A):c.490C>T (p.Arg164Cys) single nucleotide variant not provided [RCV000520362] Chr12:52492699 [GRCh38]
Chr12:52886483 [GRCh37]
Chr12:12q13.13
pathogenic
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del) microsatellite Pachyonychia congenita 3 [RCV000015740]|not provided [RCV000057012] Chr12:52492671..52492673 [GRCh38]
Chr12:52886455..52886457 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.520T>G (p.Phe174Val) single nucleotide variant Pachyonychia congenita 3 [RCV000015741]|not provided [RCV000057013] Chr12:52492669 [GRCh38]
Chr12:52886453 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) single nucleotide variant Pachyonychia congenita 3 [RCV000015742]|not provided [RCV000056998] Chr12:52488338 [GRCh38]
Chr12:52882122 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg) single nucleotide variant Pachyonychia congenita 3 [RCV000015743]|not provided [RCV000056997] Chr12:52488346 [GRCh38]
Chr12:52882130 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.1303C>T (p.Gln435Ter) single nucleotide variant not provided [RCV000056985] Chr12:52488449 [GRCh38]
Chr12:52882233 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys) single nucleotide variant not provided [RCV000056986] Chr12:52488371 [GRCh38]
Chr12:52882155 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.1381G>C (p.Glu461Gln) single nucleotide variant not provided [RCV000056987] Chr12:52488371 [GRCh38]
Chr12:52882155 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn) single nucleotide variant not provided [RCV000056988] Chr12:52488367 [GRCh38]
Chr12:52882151 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|not provided
NM_005554.4(KRT6A):c.1385T>G (p.Ile462Ser) single nucleotide variant not provided [RCV000056989] Chr12:52488367 [GRCh38]
Chr12:52882151 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.1387G>C (p.Ala463Pro) single nucleotide variant not provided [RCV000056990] Chr12:52488365 [GRCh38]
Chr12:52882149 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.1390A>C (p.Thr464Pro) single nucleotide variant not provided [RCV000056991] Chr12:52488362 [GRCh38]
Chr12:52882146 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.1393T>C (p.Tyr465His) single nucleotide variant not provided [RCV000056992] Chr12:52488359 [GRCh38]
Chr12:52882143 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.1394A>G (p.Tyr465Cys) single nucleotide variant not provided [RCV000056993] Chr12:52488358 [GRCh38]
Chr12:52882142 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.1403T>A (p.Leu468Gln) single nucleotide variant not provided [RCV000056994] Chr12:52488349 [GRCh38]
Chr12:52882133 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.1403T>C (p.Leu468Pro) single nucleotide variant not provided [RCV000056995] Chr12:52488349 [GRCh38]
Chr12:52882133 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro) single nucleotide variant Pachyonychia congenita 3 [RCV000144075]|not provided [RCV000056996] Chr12:52488346 [GRCh38]
Chr12:52882130 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.1416G>C (p.Glu472Asp) single nucleotide variant not provided [RCV000056999] Chr12:52488336 [GRCh38]
Chr12:52882120 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.487G>A (p.Glu163Lys) single nucleotide variant not provided [RCV000057001] Chr12:52492702 [GRCh38]
Chr12:52886486 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.491G>C (p.Arg164Pro) single nucleotide variant not provided [RCV000057002] Chr12:52492698 [GRCh38]
Chr12:52886482 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.497A>C (p.Gln166Pro) single nucleotide variant not provided [RCV000057003] Chr12:52492692 [GRCh38]
Chr12:52886476 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.500T>A (p.Ile167Asn) single nucleotide variant not provided [RCV000057004] Chr12:52492689 [GRCh38]
Chr12:52886473 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.500T>G (p.Ile167Ser) single nucleotide variant not provided [RCV000057005] Chr12:52492689 [GRCh38]
Chr12:52886473 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.508C>T (p.Leu170Phe) single nucleotide variant not provided [RCV000057006] Chr12:52492681 [GRCh38]
Chr12:52886465 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp) single nucleotide variant Pachyonychia congenita 3 [RCV000128818]|not provided [RCV000057007] Chr12:52492678 [GRCh38]
Chr12:52886462 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr) single nucleotide variant Pachyonychia congenita 3 [RCV000128819]|not provided [RCV000057008] Chr12:52492678 [GRCh38]
Chr12:52886462 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.512A>C (p.Asn171Thr) single nucleotide variant not provided [RCV000057009] Chr12:52492677 [GRCh38]
Chr12:52886461 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) single nucleotide variant Pachyonychia congenita 3 [RCV000128820]|not provided [RCV000057010] Chr12:52492677 [GRCh38]
Chr12:52886461 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) single nucleotide variant Pachyonychia congenita 3 [RCV000128821]|not provided [RCV000057011] Chr12:52492676 [GRCh38]
Chr12:52886460 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.3(KRT6A):c.514_516delAAC (p.Asn172del) deletion not provided [RCV000057012] Chr12:52492673..52492675 [GRCh38]
Chr12:52886457..52886459 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser) single nucleotide variant Pachyonychia congenita 3 [RCV000144078]|not provided [RCV000057014] Chr12:52492668 [GRCh38]
Chr12:52886452 [GRCh37]
Chr12:12q13.13
pathogenic|not provided
NM_005554.4(KRT6A):c.521T>G (p.Phe174Cys) single nucleotide variant not provided [RCV000057015] Chr12:52492668 [GRCh38]
Chr12:52886452 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.526T>C (p.Ser176Pro) single nucleotide variant not provided [RCV000057016] Chr12:52492663 [GRCh38]
Chr12:52886447 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.533T>A (p.Ile178Asn) single nucleotide variant not provided [RCV000057017] Chr12:52492656 [GRCh38]
Chr12:52886440 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.541-1G>C single nucleotide variant not provided [RCV000057018] Chr12:52491737 [GRCh38]
Chr12:52885521 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.541-1G>T single nucleotide variant not provided [RCV000057019] Chr12:52491737 [GRCh38]
Chr12:52885521 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.541-2A>C single nucleotide variant not provided [RCV000057020] Chr12:52491738 [GRCh38]
Chr12:52885522 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.541-2A>G single nucleotide variant not provided [RCV000057021] Chr12:52491738 [GRCh38]
Chr12:52885522 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.3(KRT6A):c.1065G>A (p.Trp355Ter) single nucleotide variant Malignant melanoma [RCV000062527] Chr12:52490581 [GRCh38]
Chr12:52884365 [GRCh37]
Chr12:51170632 [NCBI36]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.1511dup (p.Ser505fs) duplication not provided [RCV000057000] Chr12:52487903..52487904 [GRCh38]
Chr12:52881687..52881688 [GRCh37]
Chr12:12q13.13
not provided
NM_005554.4(KRT6A):c.929del (p.Gln310fs) deletion Pachyonychia congenita 3 [RCV001333411] Chr12:52490717 [GRCh38]
Chr12:52884501 [GRCh37]
Chr12:12q13.13
pathogenic
KRT6A, LEU469PRO single nucleotide variant PC-K6a [RCV000144075]   pathogenic
KRT6A, ASN171SER single nucleotide variant PC-K6a [RCV000144076]   pathogenic
KRT6A, ASN171LYS single nucleotide variant PC-K6a [RCV000144077]   pathogenic
KRT6A, PHE174SER single nucleotide variant PC-K6a [RCV000144078]   pathogenic
NM_005554.4(KRT6A):c.1460-2A>C single nucleotide variant Pachyonychia congenita 3 [RCV000144079] Chr12:52487957 [GRCh38]
Chr12:52881741 [GRCh37]
Chr12:12q13.13
pathogenic
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
NM_005554.4(KRT6A):c.1327C>T (p.Arg443Trp) single nucleotide variant not specified [RCV000433909] Chr12:52488425 [GRCh38]
Chr12:52882209 [GRCh37]
Chr12:12q13.13
benign
NM_005554.4(KRT6A):c.529_531del (p.Phe177del) deletion not provided [RCV000483766] Chr12:52492658..52492660 [GRCh38]
Chr12:52886442..52886444 [GRCh37]
Chr12:12q13.13
pathogenic
NM_005554.4(KRT6A):c.511A>C (p.Asn171His) single nucleotide variant not provided [RCV000479543] Chr12:52492678 [GRCh38]
Chr12:52886462 [GRCh37]
Chr12:12q13.13
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
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(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
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 12q13.13(chr12:52869016-52883510)x3 copy number gain not provided [RCV000750414] Chr12:52869016..52883510 [GRCh37]
Chr12:12q13.13
benign
NM_005554.4(KRT6A):c.1003G>A (p.Ala335Thr) single nucleotide variant not provided [RCV000963964] Chr12:52490643 [GRCh38]
Chr12:52884427 [GRCh37]
Chr12:12q13.13
benign
NM_005554.4(KRT6A):c.684T>C (p.Ile228=) single nucleotide variant not provided [RCV000964331] Chr12:52491593 [GRCh38]
Chr12:52885377 [GRCh37]
Chr12:12q13.13
likely benign
NM_005554.4(KRT6A):c.816G>A (p.Lys272=) single nucleotide variant not provided [RCV000893058] Chr12:52491112 [GRCh38]
Chr12:52884896 [GRCh37]
Chr12:12q13.13
benign
NM_005554.4(KRT6A):c.106G>A (p.Val36Ile) single nucleotide variant not provided [RCV000899967] Chr12:52493083 [GRCh38]
Chr12:52886867 [GRCh37]
Chr12:12q13.13
likely benign
NM_005554.4(KRT6A):c.393C>A (p.Pro131=) single nucleotide variant not provided [RCV000906862] Chr12:52492796 [GRCh38]
Chr12:52886580 [GRCh37]
Chr12:12q13.13
benign
NM_005554.4(KRT6A):c.567G>A (p.Lys189=) single nucleotide variant not provided [RCV000965892] Chr12:52491710 [GRCh38]
Chr12:52885494 [GRCh37]
Chr12:12q13.13
benign
NM_005554.4(KRT6A):c.147T>C (p.Gly49=) single nucleotide variant not provided [RCV000899966] Chr12:52493042 [GRCh38]
Chr12:52886826 [GRCh37]
Chr12:12q13.13
likely benign
NM_005554.4(KRT6A):c.1459+7A>G single nucleotide variant not provided [RCV000898901] Chr12:52488062 [GRCh38]
Chr12:52881846 [GRCh37]
Chr12:12q13.13
benign
NM_005554.4(KRT6A):c.495A>G (p.Glu165=) single nucleotide variant not provided [RCV000947455] Chr12:52492694 [GRCh38]
Chr12:52886478 [GRCh37]
Chr12:12q13.13
likely benign
NM_005554.4(KRT6A):c.968A>T (p.Asp323Val) single nucleotide variant not provided [RCV001222270] Chr12:52490678 [GRCh38]
Chr12:52884462 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_005554.4(KRT6A):c.1078-10T>C single nucleotide variant Pachyonychia congenita 3 [RCV001195849] Chr12:52490078 [GRCh38]
Chr12:52883862 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_005554.4(KRT6A):c.628C>A (p.Leu210Met) single nucleotide variant not provided [RCV000949563] Chr12:52491649 [GRCh38]
Chr12:52885433 [GRCh37]
Chr12:12q13.13
benign
NM_005554.4(KRT6A):c.1244G>A (p.Arg415His) single nucleotide variant not provided [RCV000888289] Chr12:52488508 [GRCh38]
Chr12:52882292 [GRCh37]
Chr12:12q13.13
benign
NM_005554.4(KRT6A):c.1567G>A (p.Val523Ile) single nucleotide variant not provided [RCV000953315] Chr12:52487848 [GRCh38]
Chr12:52881632 [GRCh37]
Chr12:12q13.13
likely benign
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter) single nucleotide variant Pachyonychia congenita 3 [RCV001027734] Chr12:52488371 [GRCh38]
Chr12:52882155 [GRCh37]
Chr12:12q13.13
pathogenic
NM_005554.4(KRT6A):c.1449A>G (p.Gln483=) single nucleotide variant not provided [RCV001310992] Chr12:52488079 [GRCh38]
Chr12:52881863 [GRCh37]
Chr12:12q13.13
likely benign
NM_005554.4(KRT6A):c.1694A>G (p.Ter565=) single nucleotide variant Pachyonychia congenita 3 [RCV001333410] Chr12:52487721 [GRCh38]
Chr12:52881505 [GRCh37]
Chr12:12q13.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6443 AgrOrtholog
COSMIC KRT6A COSMIC
Ensembl Genes ENSG00000205420 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000369317 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000330722 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.1160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000205420 GTEx
HGNC ID HGNC:6443 ENTREZGENE
Human Proteome Map KRT6A 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_2_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3853 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3853 ENTREZGENE
OMIM 148041 OMIM
  615726 OMIM
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_2_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30231 PharmGKB
PRINTS TYPE2KERATIN 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 A0A0S2Z427_HUMAN UniProtKB/TrEMBL
  A0A0S2Z428 ENTREZGENE, UniProtKB/TrEMBL
  K2C6A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A4QPC1 UniProtKB/Swiss-Prot
  P48667 UniProtKB/Swiss-Prot
  Q08AR4 UniProtKB/Swiss-Prot
  Q6NT67 UniProtKB/Swiss-Prot
  Q96CL4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-24 KRT6A  keratin 6A  KRT6D  keratin 6D  Data Merged 737654 PROVISIONAL
2016-03-14 KRT6A  keratin 6A  KRT6A  keratin 6A, type II  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT6A  keratin 6A, type II  KRT6A  keratin 6A  Symbol and/or name change 5135510 APPROVED