Egfbp2 Gene Detail

Summary

• Symbol
  Egfbp2
• Name
  epidermal growth factor binding protein type B
• Synonyms
  Egfbp-2

• Feature Type
  protein coding gene
• IDs
  MGI:95292
  NCBI Gene: 13647
• Alliance
  gene page

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome 7, Syntenic
• Mapping Data
  1 experiment

Strain
Comparison

• Strain-Specific Marker

Homology

• Human Ortholog
  KLK1, kallikrein 1

• Vertebrate Orthologs
  12

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  KLK1, kallikrein 1
  
• Synonyms
  hK1, Klk6, KLKR
• Links
  HGNC:6357

  NCBI Gene ID: 3816

  neXtProt AC: NX_P06870

  UniProt: P06870

  
  
• Chr Location
  19q13.33; chr19:50819146-50823787 (-)  GRCh38

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• Human Ortholog
  KLK2, kallikrein related peptidase 2
  
• Synonyms
  hGK-1, hK2, KLK2A2
• Links
  HGNC:6363

  NCBI Gene ID: 3817

  neXtProt AC: NX_P20151

  UniProt: P20151

  
  
• Chr Location
  19q13.33; chr19:50861568-50880567 (+)  GRCh38

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• MGI Vertebrate Homology
  Egfbp2 stringent orthology
  2 human;1 mouse;10 rat
  
• HCOP
  vertebrate homology predictions: KLK1, KLK2

Human Diseases

• Diseases
  5 with human KLK1 associations

				Human Disease	Mouse Models
				cardiomyopathy IDs cardiomyopathy       DOID:0050700 ICD10CM:I42 ICD9CM:425 ICD9CM:425.9 MESH:D009202 NCI:C34830 NCI:C53654 UMLS_CUI:C0033141 UMLS_CUI:C0036529 UMLS_CUI:C0878544
				chronic kidney disease IDs chronic kidney disease       DOID:784 ICD10CM:N18.9 ICD9CM:585 ICD9CM:585.6 MESH:D007676 NCI:C9438 UMLS_CUI:C0022661
				end stage renal disease IDs end stage renal disease       DOID:783
				hypertension IDs hypertension       DOID:10763 EFO:0000537 ICD10CM:I10 ICD9CM:401-405.99 ICD9CM:997.91 MESH:D006973 NCI:C3117 UMLS_CUI:C0020538
				myocardial infarction IDs myocardial infarction       DOID:5844 EFO:0000612 ICD10CM:I21 MESH:D009203 NCI:C27996 OMIM:608557 UMLS_CUI:C0027051

Click on a disease name to see all genes associated with that disease.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  15
• GO References
  7

Expression

• cDNA Data
  3

• Other Mouse Links
  GEO

Sequences &
Gene Models

• All Sequences
  8
• RefSeq
  2
• UniProt
  2

• NCBI Gene
  13647

Representative Sequences			Length	Strain/Species
genomic	AH001901	GenBank | ENA | DDBJ | MGI Sequence Detail	3003	Not Specified
transcript	NM_010115	RefSeq | MGI Sequence Detail	858	ICR
polypeptide	P36368	UniProt | EBI | MGI Sequence Detail	261	Not Applicable

Protein
Information

• UniProt
  2 Sequences
• Protein Ontology
  PR:000007285 epidermal growth factor-binding protein type B
  (term hierarchy)
• PDB
  1AO5
• EC
  3.4.21.119
• InterPro Domains
  IPR001314 Peptidase S1A, chymotrypsin family
  IPR009003 Peptidase S1, PA clan
  IPR043504 Peptidase S1, PA clan, chymotrypsin-like fold
  IPR001254 Serine proteases, trypsin domain
  IPR018114 Serine proteases, trypsin family, histidine active site
• GlyGen
  P36368 2 sites

Molecular
Reagents

• All nucleic 87

  Genomic 82

  cDNA 5

  
  

  Microarray probesets 2

Other
Accession IDs

MGD-MRK-9317, MGD-MRK-9320

References

• Summaries
  All 23

  Gene Ontology 7
• Earliest
  J:7072 Mason AJ, et al., Structure of mouse kallikrein gene family suggests a role in specific processing of biologically active peptides. Nature. 1983 May 26;303(5915):300-7
• Latest
  J:96866 Takada K, et al., Autoimmunity against a tissue kallikrein in IQI/Jic Mice: a model for Sjogren's syndrome. J Biol Chem. 2005 Feb 4;280(5):3982-8