KRTAP4-12 (keratin associated protein 4-12) - Rat Genome Database

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Gene: KRTAP4-12 (keratin associated protein 4-12) Homo sapiens
Analyze
No known orthologs.
Symbol: KRTAP4-12
Name: keratin associated protein 4-12
RGD ID: 1343990
HGNC Page HGNC:16776
Description: Predicted to be located in cytosol and keratin filament.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KAP4.12; keratin-associated protein 4-12; keratin-associated protein 4.12; KRTAP4.12; ultrahigh sulfur keratin-associated protein 4.12
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,123,091 - 41,124,182 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,123,091 - 41,124,182 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,279,343 - 39,280,434 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,532,869 - 36,533,945 (-)NCBINCBI36Build 36hg18NCBI36
Celera1735,941,327 - 35,942,403 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1735,053,586 - 35,054,662 (-)NCBIHuRef
CHM1_11739,514,690 - 39,515,766 (-)NCBICHM1_1
T2T-CHM13v2.01741,987,947 - 41,989,038 (-)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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11279113   PMID:12477932   PMID:15489334   PMID:16189514   PMID:16713569   PMID:21516116   PMID:23088713   PMID:25416956   PMID:26871637   PMID:27107014   PMID:29892012   PMID:31515488  
PMID:32296183   PMID:36217029   PMID:36949045  


Genomics

Variants

.
Variants in KRTAP4-12
15 total Variants

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
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
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
GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1 copy number loss See cases [RCV000137698] Chr17:40927571..41313858 [GRCh38]
Chr17:39083823..39470110 [GRCh37]
Chr17:36337349..36723636 [NCBI36]
Chr17:17q21.2		 likely 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_031854.3(KRTAP4-12):c.458C>G (p.Pro153Arg) single nucleotide variant Inborn genetic diseases [RCV003275904] Chr17:41123665 [GRCh38]
Chr17:39279917 [GRCh37]
Chr17:17q21.2		 uncertain significance
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 17q21.2(chr17:39043189-39492499)x1 copy number loss not provided [RCV000683934] Chr17:39043189..39492499 [GRCh37]
Chr17:17q21.2		 likely benign
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_031854.3(KRTAP4-12):c.441C>G (p.Ile147Met) single nucleotide variant Inborn genetic diseases [RCV003290948] Chr17:41123682 [GRCh38]
Chr17:39279934 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.350G>A (p.Arg117His) single nucleotide variant Inborn genetic diseases [RCV003239987] Chr17:41123773 [GRCh38]
Chr17:39280025 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.521T>C (p.Val174Ala) single nucleotide variant Inborn genetic diseases [RCV002970490] Chr17:41123602 [GRCh38]
Chr17:39279854 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.143C>T (p.Pro48Leu) single nucleotide variant Inborn genetic diseases [RCV002865882] Chr17:41123980 [GRCh38]
Chr17:39280232 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.122G>C (p.Cys41Ser) single nucleotide variant Inborn genetic diseases [RCV002954528] Chr17:41124001 [GRCh38]
Chr17:39280253 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.307C>T (p.Pro103Ser) single nucleotide variant Inborn genetic diseases [RCV002983665] Chr17:41123816 [GRCh38]
Chr17:39280068 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.566C>G (p.Thr189Ser) single nucleotide variant Inborn genetic diseases [RCV002699377] Chr17:41123557 [GRCh38]
Chr17:39279809 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.184C>T (p.Arg62Cys) single nucleotide variant Inborn genetic diseases [RCV002896421] Chr17:41123939 [GRCh38]
Chr17:39280191 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.503G>A (p.Arg168His) single nucleotide variant Inborn genetic diseases [RCV002677184] Chr17:41123620 [GRCh38]
Chr17:39279872 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.91T>C (p.Cys31Arg) single nucleotide variant Inborn genetic diseases [RCV002724703] Chr17:41124032 [GRCh38]
Chr17:39280284 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.16T>G (p.Cys6Gly) single nucleotide variant Inborn genetic diseases [RCV003173831] Chr17:41124107 [GRCh38]
Chr17:39280359 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.386A>C (p.Gln129Pro) single nucleotide variant Inborn genetic diseases [RCV003205873] Chr17:41123737 [GRCh38]
Chr17:39279989 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_031854.3(KRTAP4-12):c.222C>T (p.Thr74=) single nucleotide variant not provided [RCV003419732] Chr17:41123901 [GRCh38]
Chr17:39280153 [GRCh37]
Chr17:17q21.2		 likely benign
NM_031854.3(KRTAP4-12):c.306C>T (p.Arg102=) single nucleotide variant not provided [RCV003419731] Chr17:41123817 [GRCh38]
Chr17:39280069 [GRCh37]
Chr17:17q21.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:198
Count of miRNA genes:179
Interacting mature miRNAs:184
Transcripts:ENST00000394014
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
UniSTS:482170  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1735,109,358 - 35,109,479UniSTS
HuRef1735,109,118 - 35,109,479UniSTS
HuRef1735,099,347 - 35,099,480UniSTS
HuRef1735,091,982 - 35,092,103UniSTS
HuRef1735,054,399 - 35,054,640UniSTS
HuRef1735,081,079 - 35,081,200UniSTS
HuRef1735,080,899 - 35,081,200UniSTS
HuRef1735,054,519 - 35,054,640UniSTS
HuRef1735,091,907 - 35,092,103UniSTS
UniSTS:484054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,279,474 - 39,280,411UniSTSGRCh37
Celera1735,941,458 - 35,942,395UniSTS
HuRef1735,053,717 - 35,054,654UniSTS


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 4
Medium 187 1 81
Low 6 16 4 24 189 9 21 1 5 11 6 92
Below cutoff 310 527 171 55 346 28 759 297 410 17 218 211 27 194 482

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000394014   ⟹   ENSP00000377582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,123,091 - 41,124,182 (-)Ensembl
RefSeq Acc Id: NM_031854   ⟹   NP_114060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,123,091 - 41,124,182 (-)NCBI
GRCh371739,279,343 - 39,280,419 (-)RGD
Build 361736,532,869 - 36,533,945 (-)NCBI Archive
Celera1735,941,327 - 35,942,403 (-)RGD
HuRef1735,053,586 - 35,054,662 (-)ENTREZGENE
CHM1_11739,514,690 - 39,515,766 (-)NCBI
T2T-CHM13v2.01741,987,947 - 41,989,038 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_114060   ⟸   NM_031854
- UniProtKB: A3KMC5 (UniProtKB/Swiss-Prot),   Q495I0 (UniProtKB/Swiss-Prot),   Q9BQ66 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000377582   ⟸   ENST00000394014

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BQ66-F1-model_v2 AlphaFold Q9BQ66 1-201 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16776 AgrOrtholog
COSMIC KRTAP4-12 COSMIC
Ensembl Genes ENSG00000213416 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000263236 UniProtKB/Swiss-Prot
  ENSG00000292039 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000394014 ENTREZGENE
  ENST00000394014.2 UniProtKB/Swiss-Prot
  ENST00000571271.1 UniProtKB/Swiss-Prot
  ENST00000709603.1 UniProtKB/Swiss-Prot
GTEx ENSG00000213416 GTEx
  ENSG00000263236 GTEx
  ENSG00000292039 GTEx
HGNC ID HGNC:16776 ENTREZGENE
Human Proteome Map KRTAP4-12 Human Proteome Map
InterPro KAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83755 UniProtKB/Swiss-Prot
NCBI Gene 83755 ENTREZGENE
PANTHER HCG2042993-RELATED UniProtKB/Swiss-Prot
  PTHR23262 UniProtKB/Swiss-Prot
Pfam Keratin_B2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38416 PharmGKB
UniProt A3KMC5 ENTREZGENE
  KR412_HUMAN UniProtKB/Swiss-Prot
  Q495H9_HUMAN UniProtKB/TrEMBL
  Q495I0 ENTREZGENE
  Q9BQ66 ENTREZGENE
UniProt Secondary A3KMC5 UniProtKB/Swiss-Prot
  C9JSV2 UniProtKB/TrEMBL
  Q495I0 UniProtKB/Swiss-Prot