1. Gene
  2. HACD2 - 3-hydroxyacyl-CoA dehydratase 2 Gene

HACD2 - 3-hydroxyacyl-CoA dehydratase 2 Gene

Homo sapiens

Also known as PTPLB

Gene ID: 201562 | Gene type: protein coding

About HACD2

Cytogenetic location: 3q21.1 Genomic coordinates (GRCh38): 3:123,491,554-123,585,053 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues and 3 paralogues. Ubiquitous expression in fat (RPKM 34.0), prostate (RPKM 10.4) and 24 other tissues.

Summary

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]

HACD2 Products(5)

mRNA Protein Name
NM_001329783.2 NP_001316712.1 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform a
NM_001329784.2 NP_001316713.1 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform c
NM_001329786.2 NP_001316715.1 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform d
NM_001329787.2 NP_001316716.1 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform d
NM_198402.5 NP_940684.1 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform b

HACD2 Protein Structure

PTPLA

PTPLA: Protein tyrosine phosphatase-like protein, PTPLA (85 - 246)

  • 0
  • 100
  • 200
  • 254 a.a.
Protein Preferred Names Protein Names

very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2

protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b

Related Diseases

Diseases Alias
Unilateral Focal Polymicrogyria
Spinocerebellar Ataxia 34

Erythrokeratodermia With Ataxia

Spinocerebellar Ataxia Type 34

SCA34

Erythrokeratodermia - Ataxia

Giroux Barbeau Syndrome

Spinocerebellar Ataxia And Erythrokeratodermia

Erythrokeratodermia Ataxia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus HACD2 VGNC VGNC:102753
Rattus norvegicus HACD2 RGD RGD:1306337
Mus musculus HACD2 MGD MGI:1918007
Bos taurus HACD2 VGNC VGNC:50252
Macaca mulatta HACD2 VGNC VGNC:73382
Canis familiaris HACD2 VGNC VGNC:53075