Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	10994
Gene name	2-hydroxyacyl-CoA lyase 2
Gene symbol	HACL2
Synonyms (NCBI Gene)	209L8AHASHACL1LILV2HILVBL
Chromosome	19
Chromosome location	19p13.12

18 Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023636	hsa-miR-1-3p	Proteomics	18668040
MIRT046288	hsa-miR-23b-3p	CLASH	23622248
MIRT045928	hsa-miR-125b-5p	CLASH	23622248
MIRT041275	hsa-miR-193b-3p	CLASH	23622248
MIRT1065593	hsa-miR-136	CLIP-seq
MIRT1065594	hsa-miR-299-5p	CLIP-seq
MIRT1065595	hsa-miR-622	CLIP-seq
MIRT1065596	hsa-miR-876-3p	CLIP-seq
MIRT2015591	hsa-miR-1207-3p	CLIP-seq
MIRT2015592	hsa-miR-1272	CLIP-seq
MIRT2015593	hsa-miR-3145-5p	CLIP-seq
MIRT2015594	hsa-miR-3672	CLIP-seq
MIRT2015595	hsa-miR-3908	CLIP-seq
MIRT2015596	hsa-miR-455-3p	CLIP-seq
MIRT2015597	hsa-miR-4638-3p	CLIP-seq
MIRT2015598	hsa-miR-4685-5p	CLIP-seq
MIRT2015599	hsa-miR-4688	CLIP-seq
MIRT2015598	hsa-miR-4685-5p	CLIP-seq

17 Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001561	Process	Fatty acid alpha-oxidation	IDA	28289220
GO:0003824	Function	Catalytic activity	IEA
GO:0003984	Function	Acetolactate synthase activity	IBA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	28289220
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005948	Component	Acetolactate synthase complex	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0030976	Function	Thiamine pyrophosphate binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA

MIM	HGNC	e!Ensembl
605770	6041	ENSG00000105135

A1L0T0

Protein name

2-hydroxyacyl-CoA lyase 2 (EC 4.1.2.-) (Acetolactate synthase-like protein) (IlvB-like protein)

Protein function

Endoplasmic reticulum 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner. Involved in the phytosphingosine degradation pathway. {ECO:0000269|Pub

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00205	TPP_enzyme_M	273 → 405	Thiamine pyrophosphate enzyme, central domain	Domain
PF02775	TPP_enzyme_C	467 → 618	Thiamine pyrophosphate enzyme, C-terminal TPP binding domain	Domain
PF02776	TPP_enzyme_N	52 → 218	Thiamine pyrophosphate enzyme, N-terminal TPP binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested, with highest expression in heart, pancreas and placenta. {ECO:0000269|PubMed:28289220, ECO:0000269|PubMed:8954801}.

Sequence

METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLHKVDKASVRHGGENVAA
VLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAVFAADAMARLSGTVGVAAV
TAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGALQAVDQLSLFRPLCKFCVSVR
RVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFMVQKEMVPAKPPKGLVGRVVSWY
LENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRCVEILSRAKRPLMVLGSQALLTPTS
ADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIRENRSAALKKADVIVLAGTVCDFRLSY
GRVLSHSSKIIIVNRNREEMLLNSDIFWKPQEAVQGDVGSFVLKLVEGLQGQTWAPDWVE
ELREADRQKEQTFREKAAMPVAQHLNPVQVLQLVEETLPDNSILVVDGGDFVGTAAHLVQ
PRGPLRWLDPGAFGTLGVGAGFALGAKLCRPDAEVWCLFGDGAFGYSLIEFDTFVRHKIP
VMALVGNDAGWTQISREQVPSLGSNVACGLAYTDYHKAAMGLGARGLLLSRENEDQVVKV
LHDAQQQCRDGHPVVVNILIGRTDFRDGSIAV

Sequence length

632

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Lung cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	29246216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29246216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	29246216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with HACL2 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for HACL2.

Diseases Linked via Similar Genes Diseases curated for genes most similar to HACL2 (see Related Genes above), that are NOT already directly curated for HACL2 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to HACL2.

HACL2 (2-hydroxyacyl-CoA lyase 2)

Bookmark This Gene