ECHDC2 (enoyl-CoA hydratase domain containing 2)

Gene

• Entrez ID: 55268
• Gene name: Enoyl-CoA hydratase domain containing 2
• Gene symbol: ECHDC2
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p32.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041810	hsa-miR-484	CLASH	23622248
MIRT951755	hsa-miR-4643	CLIP-seq
MIRT951756	hsa-miR-642b	CLIP-seq
MIRT951757	hsa-miR-759	CLIP-seq
MIRT951758	hsa-miR-127-5p	CLIP-seq
MIRT951759	hsa-miR-4521	CLIP-seq
MIRT951755	hsa-miR-4643	CLIP-seq
MIRT951760	hsa-miR-4656	CLIP-seq
MIRT951761	hsa-miR-4676-5p	CLIP-seq
MIRT951762	hsa-miR-575	CLIP-seq
MIRT951756	hsa-miR-642b	CLIP-seq
MIRT951757	hsa-miR-759	CLIP-seq
MIRT2216694	hsa-miR-1297	CLIP-seq
MIRT2216695	hsa-miR-26a	CLIP-seq
MIRT2216696	hsa-miR-26b	CLIP-seq
MIRT2216697	hsa-miR-412	CLIP-seq
MIRT2216698	hsa-miR-4457	CLIP-seq
MIRT2216699	hsa-miR-4465	CLIP-seq
MIRT2216700	hsa-miR-4639-5p	CLIP-seq
MIRT2216701	hsa-miR-4694-3p	CLIP-seq
MIRT2216702	hsa-miR-513b	CLIP-seq
MIRT2216703	hsa-miR-516b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0016829	Function	Lyase activity	IEA

Other IDs

• MIM: 620724
• HGNC: 23408
• e!Ensembl: ENSG00000121310

Protein

• UniProt ID: Q86YB7
• Protein name: Enoyl-CoA hydratase domain-containing protein 2, mitochondrial
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00378	ECH_1	37 → 292	Enoyl-CoA hydratase/isomerase	Domain

• Sequence:

  MLRVLCLLRPWRPLRARGCASDGAAGGSEIQVRALAGPDQGITEILMNRPSARNALGNVF
  VSELLETLAQLREDRQVRVLLFRSGVKGVFCAGADLKEREQMSEAEVGVFVQRLRGLMND
  IAAFPAPTIAAMDGFALGGGLELALACDLRVAASSAVMGLIETTRGLLPGAGGTQRLPRC
  LGVALAKELIFTGRRLSGTEAHVLGLVNHAVAQNEEGDAAYQRARALAQEILPQAPIAVR
  LGKVAIDRGTEVDIASGMAIEGMCYAQNIPTRDRLEGMAAFREKRTPKFVGK

• Sequence length: 292

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	32084215	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29896284		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	24005033	Associate	★☆☆☆☆ Found in Text Mining only