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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
EFHD1 80303 EF-hand domain family, member D1  2FLJ13612 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
24861485   2014Cell line : -

Source : Department of Digestive Surgery, Graduate School of Medicine, Nihon University.

Sample Type : CRC tumor and normal tissue

No. of Sample : 144

Stage : AJCC Stage I,II,III,IV

Bisulfite treatment of genomic DNA,Methylation-specific PCR,Pyrosequencing analysisMethylation- EFHD1 methylation was highly positive in CRC plasma samples, and they might be useful in detection of CRC, especially for early-stage CRCs.


Gene Details



NC_000002.11 (233470767..233547491)

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Gene Type protein coding
Gene Family EF-hand domain containing
Description EFHD1 is an EF-hand domain-containing protein that displays increased expression during neuronal differentiation (Tominaga and Tomooka, 2002 [PubMed 12270117]).[supplied by OMIM, Mar 2008]  
Chromosome 2
Location 2q37.1
Start 233470767  
End 233547491  
Strand +  
Gene Sequence

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Length 76725  
OMIM ID 611617   
HGNC ID HGNC:29556   
Unigene ID Hs.516769   
Ensembl ID ENSG00000115468   
PharmGKB ID PA134935372   

mRNA Information


mRNA ID ?NM_001243252.1
Exon  
mRNA Sequence

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Length  



CDS Information


   
Location
CDS Sequence

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CCDS ID CCDS2497.1



Protein Information


      
Protein IDNP_001230181.1
Protein NameEF-hand domain family, member D1
Molecular Wt. (Da)0
Protein Sequence

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Length 239  
Uniprot IDQ9C0C2
Ensembl Protein ID ENSP00000350990  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation22
SPhosphorylation60

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

No matching records from HPRD source could be found.

Pathway Information


No matching records could be found.

Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd0005194-152  EFh
cl0830294-152  EFh superfamily
pfam1340594-123  EF-hand_6
cl2363494-123  EF-hand_6 superfamily
cd0005296-156  EH
cd0502385-152  S-100A11
pfam0003694-122  EF-hand_1
cl2348994-122  EF-hand_1 superfamily
pfam13833107-152  EF-hand_8
smart0005494-122  EFh
cl2334794-122  EFh superfamily
cd00213114-159  S-100
pfam13499100-155  EF-hand_7
COG512679-151  FRQ1
PTZ0018379-154  PTZ00183
PTZ0018492-152  PTZ00184
PTZ0018483-151  PTZ00184
PTZ0018398-157  PTZ00183
COG512683-152  FRQ1
smart0002796-156  EH


Ontology Information


   
HPRD ID10114
Molecular ClassCalcium binding protein
Molecular FunctionMolecular function unknown (GO:0005554)
Biological ProcessRegulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO