HTD2
gene geneOn this page
Summary
HTD2 (hydroxyacyl-thioester dehydratase type 2, HGNC:53111) is a protein-coding gene on chromosome 3p14.3, encoding Hydroxyacyl-thioester dehydratase type 2, mitochondrial (P86397). Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis.
This gene encodes a protein that localizes to the mitochondria and can function as a 3-hydroxyacyl thioester dehydratase. This gene is located just downstream of the gene for ribonuclease P/MRP subunit p14 (RPP14) in a genomic context that is conserved among animals. The upstream RPP14 gene is thought to be co-transcribed with this gene, and bicistronic transcripts may include open reading frames for both proteins.
Source: NCBI Gene 109703458 — RefSeq curated summary.
At a glance
- Expression (HPA): Tissue enhanced — highest in skeletal muscle, hippocampal formation, dorsal hippocampus
- GTEx eGene: eQTL in 0 tissues, sQTL in 10 (q < 0.05)
- MANE Select transcript:
NM_001348712
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:53111 |
| Approved symbol | HTD2 |
| Name | hydroxyacyl-thioester dehydratase type 2 |
| Location | 3p14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000255154 |
| Ensembl biotype | protein_coding |
| OMIM | 620769 |
| Entrez | 109703458 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 14 protein_coding, 1 protein_coding_CDS_not_defined
MANE Select: ENST00000461393
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 3, TSL 3: 1, TSL 4: 1, TSL 5: 1
ENST00000461393, ENST00000474660, ENST00000475412, ENST00000476007, ENST00000477305, ENST00000481972, ENST00000498618, ENST00000992408, ENST00000992409, ENST00000992410, ENST00000992411, ENST00001035799, ENST00001035800, ENST00001035801, ENST00001144259
RefSeq mRNA: 4 — MANE Select: NM_001348712
NM_001348712, NM_001348713, NM_001348714, NM_001348715
CCDS: CCDS87096
Canonical transcript exons
ENST00000461393 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001849775 | 58317440 | 58320193 |
| ENSE00001897116 | 58306520 | 58306651 |
| ENSE00003724072 | 58316515 | 58316591 |
| ENSE00003741711 | 58316915 | 58316993 |
| ENSE00003746656 | 58310507 | 58310591 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 90.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.0521 / max 110.7990, expressed in 1774 samples.
Highest expression (Bgee): primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, muscle of leg, gastrocnemius, skeletal muscle tissue.
Genetic regulation across tissues (GTEx eQTL / sQTL)
HTD2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 0 tissues and its splicing (sQTL) in 10 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
10 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Muscle Skeletal | sqtl | 4.2e-06 | +0.55 | 3:58315733:A:G |
| Esophagus Mucosa | sqtl | 5.7e-05 | -0.42 | 3:58398516:A:C |
| Adipose Visceral Omentum | sqtl | 2.4e-03 | -0.40 | 3:58274433:C:T |
| Cells EBV-transformed lymphocytes | sqtl | 2.5e-03 | -0.71 | 3:58370859:T:TGTG |
| Testis | sqtl | 2.7e-03 | +0.70 | 3:58306798:T:G |
| Lung | sqtl | 9.0e-03 | -0.30 | 3:58343535:G:A |
| Esophagus Gastroesophageal Junction | sqtl | 1.7e-02 | +0.62 | 3:58315733:A:G |
| Breast Mammary Tissue | sqtl | 2.9e-02 | -0.35 | 3:58450761:C:T |
| Esophagus Muscularis | sqtl | 4.0e-02 | -0.34 | 3:58289968:C:T |
| Artery Tibial | sqtl | 4.7e-02 | +0.57 | 3:58197351:C:T |
FANTOM5 promoters
2 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 37039 | 8.0521 | 1774 |
| 37040 | 6.9940 | 1740 |
Top tissues by expression
showing 100 of 134 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.13 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.50 | gold quality |
| muscle of leg | UBERON:0001383 | 84.85 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.43 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 83.98 | gold quality |
| muscle tissue | UBERON:0002385 | 82.70 | gold quality |
| duodenum | UBERON:0002114 | 81.44 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.96 | gold quality |
| heart left ventricle | UBERON:0002084 | 80.83 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 80.60 | gold quality |
| rectum | UBERON:0001052 | 80.16 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 80.01 | gold quality |
| heart | UBERON:0000948 | 79.47 | gold quality |
| apex of heart | UBERON:0002098 | 78.84 | gold quality |
| right atrium auricular region | UBERON:0006631 | 78.63 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.41 | gold quality |
| prefrontal cortex | UBERON:0000451 | 78.02 | gold quality |
| adrenal tissue | UBERON:0018303 | 77.93 | gold quality |
| placenta | UBERON:0001987 | 77.72 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 77.57 | gold quality |
| ventricular zone | UBERON:0003053 | 77.56 | gold quality |
| gall bladder | UBERON:0002110 | 77.27 | gold quality |
| leukocyte | CL:0000738 | 77.13 | gold quality |
| monocyte | CL:0000576 | 76.90 | gold quality |
| vermiform appendix | UBERON:0001154 | 76.54 | gold quality |
| granulocyte | CL:0000094 | 76.53 | gold quality |
| lymph node | UBERON:0000029 | 76.47 | gold quality |
| endometrium | UBERON:0001295 | 76.37 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 76.22 | gold quality |
| adrenal gland | UBERON:0002369 | 76.10 | gold quality |
| urinary bladder | UBERON:0001255 | 75.95 | gold quality |
| right adrenal gland | UBERON:0001233 | 75.94 | gold quality |
| left adrenal gland | UBERON:0001234 | 75.79 | gold quality |
| fallopian tube | UBERON:0003889 | 75.71 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 75.67 | gold quality |
| omental fat pad | UBERON:0010414 | 75.63 | gold quality |
| cortical plate | UBERON:0005343 | 75.54 | gold quality |
| esophagus mucosa | UBERON:0002469 | 75.47 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 75.44 | gold quality |
| ovary | UBERON:0000992 | 75.25 | gold quality |
| left ovary | UBERON:0002119 | 75.21 | gold quality |
| left uterine tube | UBERON:0001303 | 75.17 | gold quality |
| pancreas | UBERON:0001264 | 75.14 | gold quality |
| adipose tissue | UBERON:0001013 | 75.07 | gold quality |
| esophagus | UBERON:0001043 | 75.02 | gold quality |
| mucosa of stomach | UBERON:0001199 | 74.99 | gold quality |
| frontal cortex | UBERON:0001870 | 74.96 | gold quality |
| colon | UBERON:0001155 | 74.80 | gold quality |
| ganglionic eminence | UBERON:0004023 | 74.72 | gold quality |
| lower esophagus | UBERON:0013473 | 74.71 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 74.71 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 74.64 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 74.56 | gold quality |
| transverse colon | UBERON:0001157 | 74.55 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 74.48 | gold quality |
| intestine | UBERON:0000160 | 74.21 | gold quality |
| skin of leg | UBERON:0001511 | 74.17 | gold quality |
| kidney | UBERON:0002113 | 74.02 | gold quality |
| tonsil | UBERON:0002372 | 73.97 | gold quality |
| cortex of kidney | UBERON:0001225 | 73.92 | gold quality |
| left coronary artery | UBERON:0001626 | 73.88 | gold quality |
| popliteal artery | UBERON:0002250 | 73.86 | gold quality |
| tibial artery | UBERON:0007610 | 73.83 | gold quality |
| zone of skin | UBERON:0000014 | 73.82 | gold quality |
| right ovary | UBERON:0002118 | 73.82 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 73.82 | gold quality |
| vagina | UBERON:0000996 | 73.81 | gold quality |
| multicellular organism | UBERON:0000468 | 73.74 | gold quality |
| body of stomach | UBERON:0001161 | 73.67 | gold quality |
| liver | UBERON:0002107 | 73.62 | gold quality |
| adenohypophysis | UBERON:0002196 | 73.62 | gold quality |
| body of uterus | UBERON:0009853 | 73.55 | gold quality |
| right lobe of liver | UBERON:0001114 | 73.53 | gold quality |
| skin of abdomen | UBERON:0001416 | 73.36 | gold quality |
| blood | UBERON:0000178 | 73.17 | gold quality |
| pituitary gland | UBERON:0000007 | 73.09 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 73.08 | gold quality |
| bone marrow | UBERON:0002371 | 73.07 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 73.03 | gold quality |
| ectocervix | UBERON:0012249 | 72.93 | gold quality |
| myometrium | UBERON:0001296 | 72.92 | gold quality |
| right coronary artery | UBERON:0001625 | 72.83 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 72.82 | gold quality |
| endocervix | UBERON:0000458 | 72.76 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 72.76 | gold quality |
| thoracic aorta | UBERON:0001515 | 72.72 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 72.70 | gold quality |
| thyroid gland | UBERON:0002046 | 72.63 | gold quality |
| minor salivary gland | UBERON:0001830 | 72.55 | gold quality |
| ascending aorta | UBERON:0001496 | 72.52 | gold quality |
| calcaneal tendon | UBERON:0003701 | 72.46 | gold quality |
| fundus of stomach | UBERON:0001160 | 72.41 | gold quality |
| stomach | UBERON:0000945 | 72.39 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 72.28 | gold quality |
| cerebral cortex | UBERON:0000956 | 72.17 | gold quality |
| body of pancreas | UBERON:0001150 | 72.10 | gold quality |
| small intestine | UBERON:0002108 | 72.08 | gold quality |
| lung | UBERON:0002048 | 71.85 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 71.84 | gold quality |
| metanephros cortex | UBERON:0010533 | 71.74 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.12 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 78 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Skeletal muscle | tissue | 41.0 | low |
| Hippocampal formation | tissue | 38.5 | |
| Frontal cortex | tissue | 37.1 | |
| Caudate putamen | tissue | 35.5 | |
| Tongue | tissue | 35.1 | |
| Cerebral cortex | tissue | 29.1 | low |
| Somatosensory cortex | tissue | 29.1 | |
| Thalamus | tissue | 28.5 | |
| Motor cortex | tissue | 28.3 | |
| Occipital cortex | tissue | 27.9 | |
| Pons | tissue | 27.6 | |
| Midbrain | tissue | 27.6 | |
| Superior colliculi | tissue | 26.7 | |
| Retrosplenial and cingulate cortex | tissue | 26.3 | |
| Prefrontal cortex | tissue | 26.1 | |
| Entorhinal cortex | tissue | 26.1 | |
| Putamen | tissue | 26.0 | |
| Septum | tissue | 25.7 | |
| Spinal cord | tissue | 25.6 | |
| Cerebellum | tissue | 25.3 | not detected |
| Corpus callosum | tissue | 25.3 | |
| Medulla oblongata | tissue | 25.2 | |
| Hypothalamus | tissue | 25.0 | |
| Substantia nigra | tissue | 24.7 | |
| Ventral forebrain | tissue | 24.4 | |
| Temporal cortex | tissue | 24.4 | |
| Retrosplenial cortex | tissue | 24.2 | |
| Insular cortex | tissue | 23.5 | |
| Periaqueductal gray | tissue | 23.1 | |
| Olfactory bulb | tissue | 23.1 | |
| Amygdala | tissue | 21.9 | |
| Basal ganglia | tissue | 21.5 | medium |
| Liver | tissue | 14.2 | medium |
| Choroid plexus | tissue | 12.5 | |
| Postcentral gyrus | tissue | 12.3 | |
| Nucleus accumbens | tissue | 12.2 | |
| Heart muscle | tissue | 11.7 | high |
| Parathyroid gland | tissue | 11.3 | |
| Duodenum | tissue | 11.2 | high |
| Locus coeruleus | tissue | 10.6 | |
| Kidney | tissue | 10.2 | high |
| Hippocampus | tissue | 9.9 | medium |
| Thyroid gland | tissue | 9.7 | medium |
| Ovary | tissue | 9.3 | medium |
| Retina | tissue | 8.5 | |
| Rectum | tissue | 8.5 | high |
| Colon | tissue | 8.3 | medium |
| Small intestine | tissue | 8.2 | high |
| Breast | tissue | 8.1 | low |
| Esophagus | tissue | 8.1 | not detected |
| Seminal vesicle | tissue | 8.0 | low |
| Endometrium 1 | tissue | 7.8 | low |
| Tonsil | tissue | 7.5 | medium |
| Skin 1 | tissue | 7.4 | not detected |
| Fallopian tube | tissue | 7.3 | not detected |
| Pituitary gland | tissue | 7.2 | |
| Adipose tissue | tissue | 7.2 | not detected |
| Smooth muscle | tissue | 7.1 | not detected |
| Testis | tissue | 7.0 | high |
| Salivary gland | tissue | 7.0 | high |
Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Dorsal hippocampus (38.5), Ventral hippocampus (31.4), Ventral spinal cord (25.6), Subiculum (25.3), White matter (25.3).
Regulation
Is transcription factor: no
Functional genomics
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000461393 — one region, missense o/e 1.88.
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Htd2 | ENSMUSG00000144287 |
| rattus_norvegicus | Rpp14 | ENSRNOG00000063660 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Aeromonas caviae | O32472 | 57.1% | Diamond |
| Methylorubrum extorquens AM1 | C5AZ74 | 53.0% | Diamond |
| Rhodospirillum rubrum ATCC 11170 | Q2RQ36 | 51.8% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| RPP14 | protein-coding | 11102 |
| PDHB | protein-coding | 5162 |
| PXK | protein-coding | 54899 |
| ABHD6 | protein-coding | 57406 |
| DNASE1L3 | protein-coding | 1776 |
| KCTD6 | protein-coding | 200845 |
Protein
Protein identifiers
Hydroxyacyl-thioester dehydratase type 2, mitochondrial — P86397 (reviewed: P86397)
Alternative names: 3-hydroxyacyl-[acyl-carrier-protein] dehydratase
All UniProt accessions (5): A0A087WTC8, A0A087WUW1, A0A087WYB6, L0R6P0, P86397
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis.
Subcellular location. Mitochondrion.
Tissue specificity. Highly expressed in heart and liver. Expressed at lower levels in skeletal muscle, spleen, kidney and placenta.
Miscellaneous. This protein is produced by a bicistronic gene which also produces the RPP14 protein from an overlapping reading frame.
Similarity. Belongs to the HTD2 family.
RefSeq proteins (4): NP_001335641, NP_001335642, NP_001335643, NP_001335644 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002539 | MaoC-like_dom | Domain |
| IPR029069 | HotDog_dom_sf | Homologous_superfamily |
| IPR050965 | UPF0336/Enoyl-CoA_hydratase | Family |
Pfam: PF01575
Catalyzed reactions (Rhea)
- a (3R)-hydroxyacyl-[ACP] = a (2E)-enoyl-[ACP] + H2O (RHEA:13097)
- (3R)-hydroxyhexanoyl-[ACP] = (2E)-hexenoyl-[ACP] + H2O (RHEA:41828)
- (3R)-hydroxydecanoyl-[ACP] = (2E)-decenoyl-[ACP] + H2O (RHEA:41860)
UniProt features (15 total): strand 5, helix 4, mutagenesis site 2, transit peptide 1, chain 1, turn 1, domain 1
Structure
Experimental structures (PDB)
1 structure by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 3IR3 | Crystal structure of human 3-hydroxyacyl-thioester dehydratase 2 (HTD2) | X-RAY DIFFRACTION | 1.99 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P86397-F1 | 84.54 | 0.74 |
Human Protein Atlas
Protein class: Enzymes, ENZYME proteins, Lyases, Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): mitochondria; nucleoli
Antibody reliability (HPA): IH approved · IF supported
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2)
| Position | Phenotype |
|---|---|
| 62 | abolishes ability to complement a htd2-delta mutant yeast. |
| 67 | abolishes ability to complement a htd2-delta mutant yeast. |
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
4 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-8978868 | Fatty acid metabolism | — |
| R-HSA-75105 | Fatty acyl-CoA biosynthesis | — |
| R-HSA-1430728 | Metabolism | — |
| R-HSA-556833 | Metabolism of lipids | — |
MSigDB gene sets: 67 (showing top):
GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS
GO Biological Process (4): fatty acid biosynthetic process (GO:0006633), fatty-acyl-CoA biosynthetic process (GO:0046949), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)
GO Molecular Function (4): 3-hydroxyacyl-CoA dehydratase activity (GO:0018812), (3R)-hydroxyacyl-[acyl-carrier-protein] dehydratase activity (GO:0019171), lyase activity (GO:0016829), hydro-lyase activity (GO:0016836)
GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)
Reactome top-level categories
3 top-level categories:
| Category | Pathways |
|---|---|
| Fatty acid metabolism | 1 |
| Metabolism | 1 |
| Metabolism of lipids | 1 |
GO top-level categories
17 GO namespaces:
| Category | Terms |
|---|---|
| fatty acid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| monocarboxylic acid biosynthetic process | 1 |
| fatty-acyl-CoA metabolic process | 1 |
| acyl-CoA biosynthetic process | 1 |
| fatty acid derivative biosynthetic process | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| enoyl-CoA hydratase activity | 1 |
| hydro-lyase activity | 1 |
| catalytic activity | 1 |
| carbon-oxygen lyase activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 10 annotations. The rest are phylogenetic / computational / electronic (IEA).
1 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| mitochondrion | CC | direct assay |
Protein interactions and networks
STRING
showing 15 of 768 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HTD2 | OXSM | Q9NWU1 | 412 |
| HTD2 | CHCHD1 | Q96BP2 | 407 |
| HTD2 | MCAT | Q8IVS2 | 406 |
| HTD2 | DMAC2 | Q9NW81 | 394 |
| HTD2 | PPP4R4 | Q6NUP7 | 386 |
| HTD2 | MRPL42 | Q9Y6G3 | 379 |
| HTD2 | MECR | Q9BV79 | 375 |
| HTD2 | UQCC3 | Q6UW78 | 372 |
| HTD2 | SCP2 | P22307 | 370 |
| HTD2 | SLC35A4 | Q96G79 | 364 |
| HTD2 | POP1 | Q99575 | 348 |
| HTD2 | NEURL3 | Q96EH8 | 345 |
| HTD2 | UQCC1 | Q9NVA1 | 332 |
| HTD2 | ACOT8 | O14734 | 331 |
| HTD2 | MYO19 | Q96H55 | 323 |
Disease & clinical
Genetic variants
ClinVar
No ClinVar records for this gene.
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 27 predictions of 343):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 3:58310497 | acceptor_gain | 1.0000 | |
| 3:58310505–58310506 | acceptor_loss | 1.0000 | 6 |
| 3:58310589 | donor_gain | 1.0000 | |
| 3:58310592–58310593 | donor_loss | 1.0000 | 4 |
| 3:58310592 | donor_loss | 0.9900 | |
| 3:58317438–58317439 | acceptor_loss | 0.9900 | 4 |
| 3:58317548 | acceptor_gain | 0.9900 | |
| 3:58313438 | donor_gain | 0.9800 | |
| 3:58316592–58316593 | donor_loss | 0.9800 | 6 |
| 3:58317438–58317439 | acceptor_loss | 0.9800 | 2 |
AlphaMissense
336 missense substitutions predicted likely pathogenic (of 1,092 scored), across 91 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| D62 | 8 | 0.972 | 0.986 |
| H67 | 8 | 0.904 | 0.982 |
| F48 | 8 | 0.878 | 0.989 |
| D52 | 8 | 0.756 | 0.893 |
| F114 | 7 | 0.984 | 0.996 |
| F56 | 7 | 0.961 | 0.994 |
| F78 | 7 | 0.901 | 0.983 |
| N64 | 7 | 0.894 | 0.982 |
| H84 | 7 | 0.882 | 0.958 |
| C144 | 7 | 0.869 | 0.984 |
| F72 | 7 | 0.813 | 0.967 |
| F107 | 7 | 0.812 | 0.953 |
| G102 | 6 | 0.942 | 0.966 |
| G156 | 6 | 0.923 | 0.984 |
| M154 | 6 | 0.895 | 0.957 |
| P101 | 6 | 0.867 | 0.952 |
| Q110 | 6 | 0.862 | 0.954 |
| V130 | 6 | 0.783 | 0.941 |
| M100 | 6 | 0.775 | 0.962 |
| G61 | 6 | 0.729 | 0.912 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 3.46e-05 |
| Kidney Renal Clear Cell Carcinoma (validation) | favorable | 8.11e-05 |
Disease associations
OMIM: gene MIM:620769 | disease phenotypes:
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
3 total (human), top 3 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Smoke | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| S-Nitrosoglutathione | decreases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.