Krtap12-20 Gene Detail

Summary

• Symbol
  Krtap12-20
• Name
  keratin associated protein 12-20
• Synonyms
  Gm10100

• Feature Type
  protein coding gene
• IDs
  MGI:3642388
  NCBI Gene: 100502953
• Alliance
  gene page
• Transcription Start Sites
  1 TSS

Location &
Maps

• Sequence Map
  Chr10:77562320-77562682 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 10, 39.72 cM
• Mapping Data
  1 experiment

Strain
Comparison

• SNPs within 2kb
  104 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3642388	protein coding gene	Chr10:77562286-77562682 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017407	protein coding gene	Chr10:78071608-78071970 (+)
A/J	MGP_AJ_G0017383	protein coding gene	Chr10:75350992-75351354 (+)
AKR/J	MGP_AKRJ_G0017345	protein coding gene	Chr10:77361042-77361404 (+)
BALB/cJ	MGP_BALBcJ_G0017344	protein coding gene	Chr10:75545151-75545513 (+)
C3H/HeJ	MGP_C3HHeJ_G0017168	protein coding gene	Chr10:77444715-77445077 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017802	protein coding gene	Chr10:80820759-80821121 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015491	protein coding gene	Chr10:71782963-71783355 (+)
CAST/EiJ	MGP_CASTEiJ_G0016738	protein coding gene	Chr10:77811438-77811800 (+)
CBA/J	MGP_CBAJ_G0017140	protein coding gene	Chr10:83919819-83920181 (+)
DBA/2J	MGP_DBA2J_G0017245	protein coding gene	Chr10:74626752-74627114 (+)
FVB/NJ	MGP_FVBNJ_G0017237	protein coding gene	Chr10:73804687-73805049 (+)
LP/J	MGP_LPJ_G0017318	protein coding gene	Chr10:78532533-78532895 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017266	protein coding gene	Chr10:85955848-85956210 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017841	protein coding gene	Chr10:77452511-77452873 (+)
PWK/PhJ	MGP_PWKPhJ_G0016521	protein coding gene	Chr10:74510942-74511304 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016305	protein coding gene	Chr10:76703377-76703739 (+)
WSB/EiJ	MGP_WSBEiJ_G0016800	protein coding gene	Chr10:77423801-77424163 (+)

Homology

• Human Ortholog
  KRTAP12-2, keratin associated protein 12-2

• Vertebrate Orthologs
  4

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  KRTAP12-2, keratin associated protein 12-2
  
• Synonyms
  KAP12.2, KRTAP12.2
• Links
  HGNC:20530

  NCBI Gene ID: 353323

  neXtProt AC: NX_P59991

  UniProt: P59991

  
  
• Chr Location
  21q22.3; chr21:44666189-44666927 (-)  GRCh38

---

• Human Ortholog
  KRTAP12-3, keratin associated protein 12-3
  
• Synonyms
  KRTAP12.3
• Links
  HGNC:20531

  NCBI Gene ID: 386683

  neXtProt AC: NX_P60328

  UniProt: P60328

  
  
• Chr Location
  21q22.3; chr21:44657932-44658341 (+)  GRCh38

---

• MGI Vertebrate Homology
  Krtap12-20 stringent orthology
  2 human;1 mouse;2 rat
  
• HCOP
  vertebrate homology predictions: KRTAP12-2, KRTAP12-3
• Gene Tree
  Krtap12-20
  

Human Diseases

• References
  2 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  29 phenotype references
  

• All Mutations and Alleles
  4
• Chemically induced (other)
  1
• Targeted
  3
• Genomic Mutations
  4 involving Krtap12-20
• Find Mice (IMSR)
  4 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  1
• GO References
  1

Expression

• Assay Results
  706

Tissue x Stage Matrix

• Other Mouse Links
  GEO
  Expression Atlas

Sequences &
Gene Models

• All Sequences
  25
• RefSeq
  2
• UniProt
  1
• CCDS
  CCDS56725.1

• Ensembl
  ENSMUSG00000096421 (Evidence)
• NCBI Gene
  100502953

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000096421	Ensembl Gene Model | MGI Sequence Detail	363	C57BL/6J
transcript	ENSMUST00000179726	Ensembl | MGI Sequence Detail	363	Not Applicable
polypeptide	ENSMUSP00000137358	Ensembl | MGI Sequence Detail	120	Not Applicable

Protein
Information

• UniProt
  1 Sequence
• InterPro Domains
  IPR002494 Keratin-associated protein

Other
Accession IDs

MGI:7580929

References

• Summaries
  All 38

  Diseases 2

  Gene Ontology 1

  Phenotypes 29
• Earliest
  J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
• Latest
  J:357279 Donovan MG, et al., Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599

TSS for Krtap12-20:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94285	Chr10:77562283-77562286 (+)	-35 bp