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HACD2 3-hydroxyacyl-CoA dehydratase 2 [ Homo sapiens (human) ]

Gene ID: 201562, updated on 7-Jun-2020

Summary

Official Symbol
HACD2provided by HGNC
Official Full Name
3-hydroxyacyl-CoA dehydratase 2provided by HGNC
Primary source
HGNC:HGNC:9640
See related
Ensembl:ENSG00000206527 MIM:615939
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTPLB
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]
Expression
Ubiquitous expression in fat (RPKM 34.0), prostate (RPKM 10.4) and 24 other tissues See more
Orthologs

Genomic context

See HACD2 in Genome Data Viewer
Location:
3q21.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (123491548..123585099, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (123213363..123303924, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SEC22 homolog A, vesicle trafficking protein Neighboring gene adenylate cyclase 5 Neighboring gene MYLK antisense RNA 1 Neighboring gene myosin light chain kinase Neighboring gene MYLK antisense RNA 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-hydroxy-arachidoyl-CoA dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
3-hydroxy-behenoyl-CoA dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
3-hydroxy-lignoceroyl-CoA dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
3-hydroxyacyl-CoA dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3-hydroxyacyl-CoA dehydratase activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT protein tyrosine phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
very-long-chain 3-hydroxyacyl-CoA dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
fatty acid elongation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid elongation IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
sphingolipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingolipid biosynthetic process IGI
Inferred from Genetic Interaction
more info
PubMed 
very long-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
very long-chain fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2
Names
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
NP_001316712.1
NP_001316713.1
NP_001316715.1
NP_001316716.1
NP_940684.1
XP_016861345.1
XP_024309155.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001329783.2NP_001316712.1  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC020631, AC023165, AC025571
  2. NM_001329784.2NP_001316713.1  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AC020631, AC023165, AC025571, AC084039
    Conserved Domains (1) summary
    pfam04387
    Location:5152
    PTPLA; Protein tyrosine phosphatase-like protein, PTPLA
  3. NM_001329786.2NP_001316715.1  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1. The resulting isoform (d) is shorter at the N-teminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
    Source sequence(s)
    AC020631, AC023165, AC025571
    Conserved Domains (1) summary
    pfam04387
    Location:1134
    PTPLA; Protein tyrosine phosphatase-like protein, PTPLA
  4. NM_001329787.1NP_001316716.1  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-teminus compared to isoform a. Variants 4 and 5 both encode the same isoform (d).
    Source sequence(s)
    AC020631, AC023165, AC025571
    Conserved Domains (1) summary
    pfam04387
    Location:1134
    PTPLA; Protein tyrosine phosphatase-like protein, PTPLA
  5. NM_198402.5NP_940684.1  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform b

    See identical proteins and their annotated locations for NP_940684.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AY191814
    Consensus CDS
    CCDS46895.1
    UniProtKB/Swiss-Prot
    Q6Y1H2
    Related
    ENSP00000373153.5, ENST00000383657.10
    Conserved Domains (1) summary
    pfam04387
    Location:85245
    PTPLA; Protein tyrosine phosphatase-like protein, PTPLA

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    123491548..123585099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453387.1XP_024309155.1  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform X1

    Conserved Domains (1) summary
    pfam04387
    Location:5152
    PTPLA; Protein tyrosine phosphatase-like protein, PTPLA
  2. XM_017005856.2XP_016861345.1  very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform X2

RNA

  1. XR_001740056.2 RNA Sequence

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