• Gene id: 201562

Gene Summary

• Gene Symbol: HACD2   Gene   UCSC   Ensembl
• Aliases: PTPLB
• Gene name: 3-hydroxyacyl-CoA dehydratase 2
• Alternate names: very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2, protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b, protein-tyrosine phosphatase-like member B, very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 2,
• Gene location: 3q21.1 (123585098: 123491547)     Exons: 13     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]
• OMIM: 615939

Protein Summary

• Protein general information: Q6Y1H2  
  • Name: Very long chain (3R) 3 hydroxyacyl CoA dehydratase 2 (EC 4.2.1.134) (3 hydroxyacyl CoA dehydratase 2) (HACD2) (Protein tyrosine phosphatase like member B)
  • Length: 254  
  • Mass: 28368
  • Tissue specificity: Highly expressed in testis, spleen, prostate, colon and heart, followed by moderate expression in thymus, ovary, small intestine, peripheral blood leukocytes, liver, skeletal muscle and pancreas. Weakly detected in kidney, placenta, br
• Sequence:

  MAAVAATAAAKGNGGGGGRAGAGDASGTRKKKGPGPLATAYLVIYNVVMTAGWLVIAVGLVRAYLAKGSYHSLYY
  SIEKPLKFFQTGALLEILHCAIGIVPSSVVLTSFQVMSRVFLIWAVTHSVKEVQSEDSVLLFVIAWTITEIIRYS
  FYTFSLLNHLPYLIKWARYTLFIVLYPMGVSGELLTIYAALPFVRQAGLYSISLPNKYNFSFDYYAFLILIMISY
  IPIFPQLYFHMIHQRRKILSHTEEHKKFE

• Structural information:
  • Interpro: IPR007482  
  • STRING: ENSP00000373153
• Other Databases: GeneCards:  HACD2  Malacards:  HACD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0042761	very long-chain fatty acid biosynthetic process	IBA	biological process
GO:0030497	fatty acid elongation	IBA	biological process
GO:0030148	sphingolipid biosynthetic process	IBA	biological process
GO:0018812	3-hydroxyacyl-CoA dehydratase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0042761	very long-chain fatty acid biosynthetic process	IDA	biological process
GO:0018812	3-hydroxyacyl-CoA dehydratase activity	IDA	molecular function
GO:0030497	fatty acid elongation	IDA	biological process
GO:0019899	enzyme binding	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IMP	NOT|molecular function
GO:0030148	sphingolipid biosynthetic process	IGI	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0102345	3-hydroxy-lignoceroyl-CoA dehydratase activity	IEA	molecular function
GO:0102344	3-hydroxy-behenoyl-CoA dehydratase activity	IEA	molecular function
GO:0102158	very-long-chain 3-hydroxyacyl-CoA dehydratase activity	IEA	molecular function
GO:0102343	3-hydroxy-arachidoyl-CoA dehydratase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa01040	Biosynthesis of unsaturated fatty acids
hsa00062	Fatty acid elongation

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq