HTD2 (hydroxyacyl-thioester dehydratase type 2) - Rat Genome Database

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Gene: HTD2 (hydroxyacyl-thioester dehydratase type 2) Homo sapiens
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Symbol: HTD2
Name: hydroxyacyl-thioester dehydratase type 2
RGD ID: 12904515
HGNC Page HGNC:53111
Description: Predicted to enable (3R)-hydroxyacyl-[acyl-carrier-protein] dehydratase activity. Predicted to be involved in fatty acid biosynthetic process. Predicted to act upstream of or within lipoate biosynthetic process. Located in mitochondrion and nucleolus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3-hydroxyacyl-[acyl-carrier-protein] dehydratase; hydroxyacyl-thioester dehydratase type 2, mitochondrial
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38358,306,245 - 58,320,193 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl358,306,262 - 58,320,193 (+)Ensemblhg38GRCh38
GRCh37358,291,972 - 58,305,920 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3p14.3NCBI
T2T-CHM13v2.0358,346,652 - 58,360,600 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrial matrix  (TAS)
mitochondrion  (HTP,IBA,IDA,IEA)
nucleolus  (IDA)

Molecular Function

References
Additional References at PubMed
PMID:15342556   PMID:16641997   PMID:17898086   PMID:21873635   PMID:23950983   PMID:24870542   PMID:26578573   PMID:34800366  


Genomics

Comparative Map Data
HTD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38358,306,245 - 58,320,193 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl358,306,262 - 58,320,193 (+)Ensemblhg38GRCh38
GRCh37358,291,972 - 58,305,920 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3p14.3NCBI
T2T-CHM13v2.0358,346,652 - 58,360,600 (+)NCBIT2T-CHM13v2.0
Htd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391414,377,937 - 14,389,436 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1414,378,353 - 14,389,396 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38148,080,313 - 8,091,846 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl148,080,367 - 8,091,834 (+)Ensemblmm10GRCm38
Cytogenetic Map14A1NCBI
Htd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82107,151,876 - 107,152,337 (+)NCBIGRCr8GRCr8GRCr8
mRatBN7.22105,222,958 - 105,223,419 (+)NCBImRatBN7.2mRatBN7.2
Cytogenetic Map2q24NCBI
HTD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1358,290,602 - 58,297,141 (+)NCBINHGRI_mPanPan1
HTD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12032,280,815 - 32,288,844 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2032,205,831 - 32,213,858 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02032,548,965 - 32,556,984 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2032,546,560 - 32,562,139 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12032,005,272 - 32,013,298 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02032,361,810 - 32,369,844 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02032,533,416 - 32,541,444 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Htd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118169,529,612 - 169,532,647 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364732,670,676 - 2,671,179 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364732,669,483 - 2,671,225 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HTD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1340,071,665 - 40,076,049 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11340,062,149 - 40,078,179 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21344,022,445 - 44,033,133 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HTD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12219,600,138 - 19,601,722 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041147,223,387 - 147,236,364 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in HTD2
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3 copy number gain See cases [RCV000051468] Chr3:57911290..58409928 [GRCh38]
Chr3:57897017..58395655 [GRCh37]
Chr3:57872057..58370695 [NCBI36]
Chr3:3p14.3		 uncertain significance
GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1 copy number loss See cases [RCV000139570] Chr3:57430538..64884522 [GRCh38]
Chr3:57416265..64870197 [GRCh37]
Chr3:57391305..64845237 [NCBI36]
Chr3:3p14.3-14.1		 pathogenic
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1		 pathogenic
NM_007042.6(RPP14):c.308G>A (p.Arg103Gln) single nucleotide variant not provided [RCV000965643] Chr3:58316983 [GRCh38]
Chr3:58302710 [GRCh37]
Chr3:3p14.3		 benign
NM_007042.6(RPP14):c.163-8A>G single nucleotide variant not provided [RCV000910357] Chr3:58316507 [GRCh38]
Chr3:58302234 [GRCh37]
Chr3:3p14.3		 benign
NM_007042.6(RPP14):c.284A>G (p.Tyr95Cys) single nucleotide variant not specified [RCV004210513] Chr3:58316959 [GRCh38]
Chr3:58302686 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_007042.6(RPP14):c.352A>G (p.Ser118Gly) single nucleotide variant not specified [RCV004178054] Chr3:58317473 [GRCh38]
Chr3:58303200 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_007042.6(RPP14):c.49T>G (p.Ser17Ala) single nucleotide variant not specified [RCV004178055] Chr3:58310378 [GRCh38]
Chr3:58296105 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_007042.6(RPP14):c.175T>A (p.Leu59Ile) single nucleotide variant not specified [RCV004452016] Chr3:58316527 [GRCh38]
Chr3:58302254 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_007042.6(RPP14):c.47C>T (p.Pro16Leu) single nucleotide variant not specified [RCV004452017] Chr3:58310376 [GRCh38]
Chr3:58296103 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_007042.6(RPP14):c.11C>T (p.Pro4Leu) single nucleotide variant not specified [RCV004665756] Chr3:58310340 [GRCh38]
Chr3:58296067 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_007042.6(RPP14):c.146A>G (p.Lys49Arg) single nucleotide variant not specified [RCV004665755] Chr3:58310575 [GRCh38]
Chr3:58296302 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_007042.6(RPP14):c.255G>T (p.Leu85Phe) single nucleotide variant not specified [RCV004860863] Chr3:58316930 [GRCh38]
Chr3:58302657 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_007042.6(RPP14):c.52G>A (p.Glu18Lys) single nucleotide variant not specified [RCV005272395] Chr3:58310381 [GRCh38]
Chr3:58296108 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_007042.6(RPP14):c.289G>A (p.Gly97Ser) single nucleotide variant not specified [RCV005272396] Chr3:58316964 [GRCh38]
Chr3:58302691 [GRCh37]
Chr3:3p14.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:147
Count of miRNA genes:145
Interacting mature miRNAs:146
Transcripts:ENST00000528153
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597215352GWAS1311426_Htotal cholesterol measurement QTL GWAS1311426 (human)9e-09blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)35831573358315734Human
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
597175798GWAS1271872_Hprotein measurement QTL GWAS1271872 (human)5e-13protein amount (VT:0010120)35831092858310929Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
957 1804 1791 1443 3058 1200 1620 6 304 1029 176 1828 4227 4172 51 2015 1 458 1219 1259 141 1

Sequence


Ensembl Acc Id: ENST00000461393   ⟹   ENSP00000484277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,306,520 - 58,320,193 (+)Ensembl
Ensembl Acc Id: ENST00000474660   ⟹   ENSP00000477762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,306,272 - 58,317,842 (+)Ensembl
Ensembl Acc Id: ENST00000475412   ⟹   ENSP00000481678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,306,262 - 58,317,775 (+)Ensembl
Ensembl Acc Id: ENST00000476007   ⟹   ENSP00000478964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,307,763 - 58,317,828 (+)Ensembl
Ensembl Acc Id: ENST00000477305   ⟹   ENSP00000481593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,306,272 - 58,318,484 (+)Ensembl
Ensembl Acc Id: ENST00000481972   ⟹   ENSP00000482940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,306,314 - 58,318,472 (+)Ensembl
Ensembl Acc Id: ENST00000498618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl358,306,365 - 58,316,580 (+)Ensembl
RefSeq Acc Id: NM_001348712   ⟹   NP_001335641
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,306,520 - 58,320,193 (+)NCBI
T2T-CHM13v2.0358,346,927 - 58,360,600 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348713   ⟹   NP_001335642
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,306,245 - 58,320,193 (+)NCBI
T2T-CHM13v2.0358,346,652 - 58,360,600 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348714   ⟹   NP_001335643
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,306,245 - 58,320,193 (+)NCBI
T2T-CHM13v2.0358,346,652 - 58,360,600 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348715   ⟹   NP_001335644
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38358,306,245 - 58,320,193 (+)NCBI
T2T-CHM13v2.0358,346,652 - 58,360,600 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001335641   ⟸   NM_001348712
- UniProtKB: P86397 (UniProtKB/Swiss-Prot),   A0A024R310 (UniProtKB/TrEMBL),   L0R6P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335642   ⟸   NM_001348713
- UniProtKB: P86397 (UniProtKB/Swiss-Prot),   A0A024R310 (UniProtKB/TrEMBL),   L0R6P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335643   ⟸   NM_001348714
- UniProtKB: P86397 (UniProtKB/Swiss-Prot),   A0A024R310 (UniProtKB/TrEMBL),   L0R6P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335644   ⟸   NM_001348715
- UniProtKB: P86397 (UniProtKB/Swiss-Prot),   A0A024R310 (UniProtKB/TrEMBL),   L0R6P0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000481593   ⟸   ENST00000477305
Ensembl Acc Id: ENSP00000482940   ⟸   ENST00000481972
Ensembl Acc Id: ENSP00000477762   ⟸   ENST00000474660
Ensembl Acc Id: ENSP00000481678   ⟸   ENST00000475412
Ensembl Acc Id: ENSP00000484277   ⟸   ENST00000461393
Ensembl Acc Id: ENSP00000478964   ⟸   ENST00000476007
Protein Domains
MaoC-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P86397-F1-model_v2 AlphaFold P86397 1-168 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:53111 AgrOrtholog
COSMIC HTD2 COSMIC
Ensembl Genes ENSG00000255154 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000461393 ENTREZGENE
  ENST00000461393.7 UniProtKB/Swiss-Prot
  ENST00000477305 ENTREZGENE
  ENST00000477305.5 UniProtKB/Swiss-Prot
  ENST00000481972 ENTREZGENE
  ENST00000481972.5 UniProtKB/Swiss-Prot
Gene3D-CATH Hotdog Thioesterase UniProtKB/Swiss-Prot
GTEx ENSG00000255154 GTEx
HGNC ID HGNC:53111 ENTREZGENE
Human Proteome Map HTD2 Human Proteome Map
InterPro HotDog_dom_sf UniProtKB/Swiss-Prot
  MaoC-like_dom UniProtKB/Swiss-Prot
  UPF0336/Enoyl-CoA_hydratase UniProtKB/Swiss-Prot
KEGG Report hsa:109703458 UniProtKB/Swiss-Prot
NCBI Gene HTD2 ENTREZGENE
OMIM 620769 OMIM
PANTHER HYDROXYACYL-THIOESTER DEHYDRATASE TYPE 2, MITOCHONDRIAL UniProtKB/Swiss-Prot
  HYDROXYACYL-THIOESTER DEHYDRATASE TYPE 2, MITOCHONDRIAL-RELATED UniProtKB/Swiss-Prot
Pfam MaoC_dehydratas UniProtKB/Swiss-Prot
PharmGKB PA166181546 PharmGKB
Superfamily-SCOP SSF54637 UniProtKB/Swiss-Prot
UniProt A0A024R310 ENTREZGENE
  A0A087WTC8_HUMAN UniProtKB/TrEMBL
  A0A087WUW1_HUMAN UniProtKB/TrEMBL
  A0A087WYB6_HUMAN UniProtKB/TrEMBL
  HTD2_HUMAN UniProtKB/Swiss-Prot
  L0R6P0 ENTREZGENE, UniProtKB/TrEMBL
  P86397 ENTREZGENE