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ECHDC2 Gene

protein-coding   GIFtS: 49

GC01M053074
enoyl Coenzyme A hydratase domain containing 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
FLJ10948 1, 2
OTTHUMP00000010482 2
Descriptions
enoyl Coenzyme A hydratase domain containing 2 2
External Ids
HGNC: 234081
Entrez Gene: 552682
UniProtKB: Q86YB73
Ensembl: ENSG000001213107
Search outside databases for aliases for ECHDC2 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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  --
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ECHDC2 gene  

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32.3

ECHDC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M053074:     (about GC identifiers)

Start:
53,134,492 bp from pter
End:
53,160,034 bp from pter
Size:
25,543 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000001.9  NT_032977.8  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ECHD2_HUMAN, Q86YB7 (See protein sequence)
Recommended Name: Enoyl-CoA hydratase domain-containing protein 2, mitochondrial precursor  
Size: 292 amino acids; 31126 Da
Subcellular location: Mitochondrion (Potential)
Secondary accessions: Q9NV38
Alternative splicing: 2 isoforms:  Q86YB7-1   Q86YB7-2   

REFSEQ proteins: NP_060751.2  

ENSEMBL proteins: 
ENSP00000351125 ENSP00000360575 ENSP00000360577 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (ECHDC2)
Human Recombinant Proteins from Abnova (ECHDC2)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005739 mitochondrion IEA--
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Antibodies for ECHDC2: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for ECHDC2
Browse R&D Systems for Antibodies
Antibodies from Abcam (ECHDC2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (ECHDC2)
Novus Biologicals Antibodies for ECHDC2

Assays for ECHDC2: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro domains/families:
 IPR018376 Enoyl-CoA_hyd/isom_CS
 IPR001753 Crotonase_core


   GeneDecks  ECHDC2 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q86YB7

ProtoNet protein and cluster: Q86YB7

1 Blocks protein family: IPB001753 Enoyl-CoA hydratase/isomerase

UniProtKB/Swiss-Prot: ECHD2_HUMAN, Q86YB7
Similarity: Belongs to the enoyl-CoA hydratase/isomerase family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ECHDC2)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018281

              Applied Biosystems Silencer® siRNAs for ECHDC2

              Sigma-Aldrich siRNA for ECHDC2  
                     Sigma-Aldrich shRNA for ECHDC2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for ECHDC2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_018281
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_018281
                                 untagged cDNA clone in CMV expression vector: NM_018281 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_018281

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016829 lyase activity IEA--
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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/16 Interacting proteins for ECHDC2 (ENSP000003605773) via UniProtKB, MINT, and/or STRING (see all 16 )
InteractantInteraction Details
GeneCardExternal ID(s)
HADHENSP000002651683STRING (score=.973)
SAPS1ENSP000003210133STRING (score=.943)
HIBCHENSP000003527063STRING (score=.936)
ANKRD28ENSP000003732873STRING (score=.931)
PECIENSP000003694613STRING (score=.914)
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3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006629 lipid metabolic process IEA--
GO:0006631 fatty acid metabolic process IEA--
GO:0008152 metabolic process IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ECHDC2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ECHDC2)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018281

              Sigma-Aldrich siRNA for ECHDC2  
                     Sigma-Aldrich shRNA for ECHDC2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_018281  

REFSEQ mRNAs for ECHDC2 gene: 

NM_018281.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_018281  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_018281
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_018281
                                 untagged cDNA clone in CMV expression vector: NM_018281 

Additional cDNA sequence: 

AF258590.1 AK001810.1 AK299834.1 AK300896.1 AK302285.1 AK307381.1 AK309535.1 AK310650.1 
AK315906.1 AL832874.1 BC038389.1 BC044574.1 BC051887.1 BX648522.1 CR614256.1 

23 DOTS entries:

DT.100014157  DT.91713948  DT.100039018  DT.431154  DT.95286454  DT.70104440  DT.75125291  DT.100039020 
DT.95286392  DT.91656919  DT.311844  DT.91924163  DT.100816117  DT.121332326  DT.97795641  DT.101979943 
DT.121332282  DT.95286409  DT.97794698  DT.99946437  DT.100740866  DT.121332267  DT.95187267 

24/296 AceView cDNA sequences (see all 296 ):

AI215705 BP431924 BM695024 CR614256 CA450358 BU785506 AI298655 AI810968 
BI963726 BI870480 AA700546 CB163700 AI798643 CB164723 BE676756 BG749464 
BG164862 AA345229 AL603043 CF528553 BM673239 AI682312 AA317298 CA396460 

highest scoring ESTs for ECHDC2:

AA504193 AA632135 AI478342 AK001810 AW025350 BC038389 BC044574 BC051887 BG164862 BG743057 

Unigene Cluster for ECHDC2:

Enoyl Coenzyme A hydratase domain containing 2
Hs.476319  [show with all ESTs]
Unigene Representative Sequence: BC051887


GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for ECHDC2 (see all 21 )

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^
SP1:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                   -   
SP2:                                      -     -     -                       -     -     -     -     -     -     -                                         -   
SP3:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                   -   
SP4:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                   -   
SP5:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                   -   

ExUns: 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c · 18d
SP1:        -           -                       -                                 
SP2:  -     -           -                       -                                 
SP3:  -     -           -                       -                                 
SP4:                    -                       -     -                           
SP5:  -     -           -                 -     -                                 

About this scheme

ECgene alternative splicing isoforms for ECHDC2

3 Ensembl transcripts including schematic representations:
ENST00000358358  ENST00000371520  ENST00000371522  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ECHDC2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ECHDC2

1 / 2 / 3

6 probe-sets matching ECHDC2 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

63872_g_at2, 3 U95-C 1 1.00 1.00 0.87 1.31 AW025350 0.80 1.00 0.91 1

48762_r_at2, 3 U95-C 1 1.00 1.00 0.93 1.15 AA632135 0.80 1.00 0.91 1

92068_r_at2, 3 U95-D 2 1.00 0.94 0.77 0.96 AI478342 0.80 1.00 0.91 1

85064_r_at*2, 3 U95-E 1 -- -- 0.87 0.59 AI922838 0.40 1.00 0.76 1

218552_at2, 3 U133-A 1 1.00 1.00 -- -- NM_018281 0.60 1.00 0.82 1

218552_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CCCTGAAGAG

SOURCE GeneReport for Unigene cluster: Hs.476319
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for ECHDC2 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
ECHDC21   -- enoyl Coenzyme A hydratase domain containing 2 97.45(n)
96.93(a)
737617  XM_001147566.1  XP_001147566.1 
cow
(Bos taurus)
ECHDC21   -- enoyl Coenzyme A hydratase domain containing 2 86.46(n)
87.36(a)
513795  NM_001038536.1  NP_001033625.1 
rat
(Rattus norvegicus)
Echdc21   -- enoyl Coenzyme A hydratase domain containing 2 84.68(n)
85.71(a)
298381  XM_216479.4  XP_216479.4 
mouse
(Mus musculus)
Echdc21, 5 4 (51.00 cM)5
enoyl Coenzyme A hydratase domain containing 21, 5 85.89(n)1
89.77(a)1
524301  NM_026728.21  NP_081004.11 
 AI8393295  AK0050305  (see all 16)
chicken
(Gallus gallus)
ECHDC21   -- enoyl Coenzyme A hydratase domain containing 2 69.11(n)
76.72(a)
424646  XM_422480.2  XP_422480.1 
About this table        Species with no ortholog for ECHDC2

ENSEMBL Gene Tree for ECHDC2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for ECHDC2 gene
AUH2  ECHS12  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/120 NCBI SNPs in ECHDC2 are shown (see all 120 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 38)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs75521391,2
A,C,F,H53159967(+) TCTCCG/CGCCCT 1 -- ut51 ese317Minor allele frequency- C:0.29WA NA EA CA CSAM EU 1569
rs10443651,2
C,F,H53134516(-) TCTACT/CTGAAT 1 -- ut31 ese314Minor allele frequency- C:0.05EA NS EU WA 2446
rs120871241,2
F,H53161254(+) ctataT/Gcacag 1 -- ng314Minor allele frequency- G:0.03EU EA WA 418
--
rs28975611,2
A,C53161335(+) tccaaA/Cacttt 1 -- ng310--------
--
rs97829751,2
A53134019(+) agtgaC/Gctgag 1 -- ng510--------
rs5115991,2
A,C,F,H,O53135406(+) GCATCC/TGATAC 1 -- int112Minor allele frequency- T:0.46EA NA EU WA 936
rs120949721,2
A,C,F,H53157880(+) GAAGAA/GTGGTT 1 -- int18Minor allele frequency- G:0.05EU EA WA 836
rs5768911,2
A,C,F,H53137564(+) GTTTTA/GAAGGA 1 -- int1 trp313Minor allele frequency- G:0.42EA EU WA NA 2678
rs5202811,2
A,C,F53137823(+) CTGATC/GACCCA 1 -- int14Minor allele frequency- G:0.36NA EA MN 436
rs22981461,2
C,F,H53144507(+) TCCTTG/AGCTCG 1 -- int18Minor allele frequency- A:0.19EA NA EU WA 2058
About this table

HapMap Linkage Disequilibrium images for ECHDC2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

  --

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

3 PubMed articles for ECHDC2 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 55268 HGNC: 23408 AceView: FLJ10948 Ensembl:ENSG00000121310 euGenes: HUgn55268
ECgene: ECHDC2 H-InvDB: ECHDC2
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for ECHDC2:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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 Predesigned and custom siRNAs for ECHDC2 Antibodies for ECHDC2
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 Lentivirus-delivered shRNAs for ECHDC2 Browse small molecules at Sigma-Aldrich
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