HS6ST2
geneOn this page
Also known as HS6ST-2
Summary
HS6ST2 (heparan sulfate 6-O-sulfotransferase 2, HGNC:19133) is a protein-coding gene on chromosome Xq26.2, encoding Heparan-sulfate 6-O-sulfotransferase 2 (Q96MM7). 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3’-phosphoadenosine 5’-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate.
Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 90161 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Paganini-Miozzo syndrome (Limited, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 118 total — 1 pathogenic
- Phenotypes (HPO): 26
- MANE Select transcript:
NM_001394073
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19133 |
| Approved symbol | HS6ST2 |
| Name | heparan sulfate 6-O-sulfotransferase 2 |
| Location | Xq26.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HS6ST-2 |
| Ensembl gene | ENSG00000171004 |
| Ensembl biotype | protein_coding |
| OMIM | 300545 |
| Entrez | 90161 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000370833, ENST00000370836, ENST00000406696, ENST00000521489, ENST00000602570, ENST00000640529
RefSeq mRNA: 4 — MANE Select: NM_001394073
NM_001077188, NM_001394073, NM_001394074, NM_147175
CCDS: CCDS48169, CCDS48170
Canonical transcript exons
ENST00000370833 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001154195 | 132669113 | 132669199 |
| ENSE00001154202 | 132708462 | 132708494 |
| ENSE00003459518 | 132956808 | 132957326 |
| ENSE00003719920 | 132958175 | 132958629 |
| ENSE00003808713 | 132626015 | 132629093 |
Expression profiles
Bgee: expression breadth ubiquitous, 215 present calls, max score 97.50.
FANTOM5 (CAGE): breadth broad, TPM avg 3.7773 / max 334.7052, expressed in 623 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200543 | 1.1502 | 424 |
| 200539 | 1.0561 | 297 |
| 200541 | 0.4361 | 284 |
| 200542 | 0.3292 | 189 |
| 200540 | 0.2477 | 162 |
| 200545 | 0.1835 | 105 |
| 200544 | 0.1300 | 52 |
| 200532 | 0.1272 | 44 |
| 200538 | 0.0623 | 26 |
| 200547 | 0.0403 | 12 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 97.50 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.50 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.30 | gold quality |
| renal medulla | UBERON:0000362 | 92.16 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.92 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.21 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.99 | gold quality |
| placenta | UBERON:0001987 | 86.34 | gold quality |
| ventricular zone | UBERON:0003053 | 85.92 | gold quality |
| entorhinal cortex | UBERON:0002728 | 84.89 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 84.31 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.12 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 82.95 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.75 | gold quality |
| gingival epithelium | UBERON:0001949 | 82.58 | gold quality |
| occipital lobe | UBERON:0002021 | 82.49 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 82.49 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 82.31 | gold quality |
| oral cavity | UBERON:0000167 | 82.27 | gold quality |
| nucleus accumbens | UBERON:0001882 | 81.57 | gold quality |
| postcentral gyrus | UBERON:0002581 | 80.70 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 80.64 | gold quality |
| parietal lobe | UBERON:0001872 | 80.29 | gold quality |
| caput epididymis | UBERON:0004358 | 80.11 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 80.02 | gold quality |
| cerebellar vermis | UBERON:0004720 | 79.94 | gold quality |
| left ovary | UBERON:0002119 | 79.67 | gold quality |
| gingiva | UBERON:0001828 | 79.09 | gold quality |
| ovary | UBERON:0000992 | 79.03 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 78.58 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 59.29 |
| E-ANND-3 | yes | 3.57 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 8)
- we have characterized HS6ST-2 and HS6ST-1 human isologues, including their chromosomal localizations,HS6STs could also transfer sulfate to N -sulfoglucosamine residues located at the non-reducing terminal of HS with high affinity. (PMID:12492399)
- HS6ST2 knockdown disrupts epithelial-mesenchymal transition and suggesets that HS6ST2 potentiates Notch signaling in pancreatic cancer cells. (PMID:21443520)
- HS6ST-1 and HS6ST-2 have roles in regulating the angiogenic program in ovarian cancer cells affecting HB-EGF signaling and subsequent expression of angiogenic cytokines by cancer cells (PMID:24563483)
- RT-PCR analysis showed that the overall transcriptional activity of the main Heparan Sulfate biosynthesis-involved genes (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1, HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade II-III glioma. (PMID:29104277)
- downregulated HS6ST2 targeted by miR-23b-3p promotes matrix degradation by activating p38 MAPK in chondrocytes and OA cartilage. (PMID:29899528)
- we identified a novel c.916G>C variant in the HS6ST2 gene. The mutation caused a significantly reduction in HS6ST2 6-O-sulfotransferase activity and was associated with a previously undescribed form of syndromic XLID with severe congenital myopia (PMID:30471091)
- Role of lncRNA FAM83H antisense RNA1 (FAM83H-AS1) in the progression of non-small cell lung cancer by regulating the miR-545-3p/heparan sulfate 6-O-sulfotransferase (HS6ST2) axis. (PMID:35260044)
- Downregulation of HS6ST2 Inhibits Cervical Cancer Cell Migration and Invasion in Vivo and in Vitro. (PMID:38058080)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hs6st2 | ENSDARG00000012025 |
| mus_musculus | Hs6st2 | ENSMUSG00000062184 |
| rattus_norvegicus | Hs6st2 | ENSRNOG00000030880 |
| drosophila_melanogaster | Hs6st | FBGN0038755 |
| caenorhabditis_elegans | WBGENE00002031 |
Paralogs (2): HS6ST1 (ENSG00000136720), HS6ST3 (ENSG00000185352)
Protein
Protein identifiers
Heparan-sulfate 6-O-sulfotransferase 2 — Q96MM7 (reviewed: Q96MM7)
All UniProt accessions (2): Q96MM7, A0A1W2PQ14
UniProt curated annotations — full annotation on UniProt →
Function. 6-O-sulfation enzyme which catalyzes the transfer of sulfate from 3’-phosphoadenosine 5’-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate.
Subcellular location. Membrane.
Disease relevance. Paganini-Miozzo syndrome (MRXSPM) [MIM:301025] An X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism. The disease may be caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the sulfotransferase 6 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96MM7-1 | 1 | yes |
| Q96MM7-2 | 2, HS6ST-2S | |
| Q96MM7-3 | 3, HS6ST-2 | |
| Q96MM7-4 | 4 |
RefSeq proteins (4): NP_001070656, NP_001381002, NP_001381003, NP_671704 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005331 | Sulfotransferase | Family |
| IPR010635 | Heparan_SO4-6-sulfoTrfase | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF03567
Catalyzed reactions (Rhea), 1 shown:
- alpha-D-glucosaminyl-heparan sulfate + 3’-phosphoadenylyl sulfate = 6-sulfo-alpha-D-glucosaminyl-heparan sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:56604)
UniProt features (39 total): binding site 11, glycosylation site 8, sequence conflict 6, compositionally biased region 3, topological domain 2, splice variant 2, sequence variant 2, region of interest 2, chain 1, transmembrane region 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96MM7-F1 | 74.28 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 290 (proton acceptor)
Ligand- & substrate-binding residues (11): 233–241; 263–264; 280; 285; 290; 325; 333; 337; 344; 457–459; 463–464
Glycosylation sites (8): 209, 404, 460, 544, 556, 564, 589, 592
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022928 | HS-GAG biosynthesis |
MSigDB gene sets: 212 (showing top):
AP1_01, WHITEHURST_PACLITAXEL_SENSITIVITY, GOZGIT_ESR1_TARGETS_DN, CREBP1_Q2, TGACCTY_ERR1_Q2, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, SREBP1_02, IRF7_01, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, TGCTGAY_UNKNOWN, E4F1_Q6, OCT1_07, ATF3_Q6, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP
GO Biological Process (1): heparan sulfate proteoglycan biosynthetic process (GO:0015012)
GO Molecular Function (3): heparan sulfate 6-sulfotransferase activity (GO:0017095), sulfotransferase activity (GO:0008146), transferase activity (GO:0016740)
GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Heparan sulfate/heparin (HS-GAG) metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| proteoglycan biosynthetic process | 1 |
| heparan sulfate proteoglycan metabolic process | 1 |
| protein O-linked glycosylation via xylose | 1 |
| heparan sulfate sulfotransferase activity | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| catalytic activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
820 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HS6ST2 | HS2ST1 | Q7LGA3 | 721 |
| HS6ST2 | NDST2 | P52849 | 670 |
| HS6ST2 | HS3ST1 | O14792 | 662 |
| HS6ST2 | NDST1 | P52848 | 652 |
| HS6ST2 | GLCE | O94923 | 645 |
| HS6ST2 | EXT1 | Q16394 | 581 |
| HS6ST2 | SULF2 | Q8IWU5 | 579 |
| HS6ST2 | NDST3 | O95803 | 571 |
| HS6ST2 | GPC3 | P51654 | 568 |
| HS6ST2 | HS3ST3A1 | Q9Y663 | 557 |
| HS6ST2 | SULF1 | Q8IWU6 | 556 |
| HS6ST2 | HS3ST4 | Q9Y661 | 547 |
| HS6ST2 | HS3ST6 | Q96QI5 | 543 |
| HS6ST2 | HS3ST5 | Q8IZT8 | 522 |
| HS6ST2 | NDST4 | Q9H3R1 | 518 |
IntAct
69 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| PLOD2 | psi-mi:“MI:0914”(association) | 0.530 | |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| OGFOD3 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| PON2 | NPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | LAMA5 | psi-mi:“MI:0914”(association) | 0.530 |
| GINM1 | ADCY9 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| KIF20A | NEURL4 | psi-mi:“MI:0914”(association) | 0.350 |
| NETO2 | TIA1 | psi-mi:“MI:0914”(association) | 0.350 |
| Pafah1b1 | ATXN3 | psi-mi:“MI:0914”(association) | 0.350 |
| SURF4 | psi-mi:“MI:0914”(association) | 0.350 | |
| CACNA1C | DISP2 | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| LDLRAD1 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC12B | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GINM1 | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| ST14 | LIPT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| NRSN1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM59 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB4 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF7 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (76): HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-RNA), HS6ST2 (Affinity Capture-MS), HS6ST2 (Affinity Capture-MS)
ESM2 similar proteins: A0A8C2LVE3, A0MGZ5, A0MGZ7, A4IID1, A5D7I4, A9X1C8, O08889, O12971, O60243, O93336, O97583, P0DJQ9, P52849, P52850, P61642, P69478, P97464, Q16394, Q56UJ5, Q5IGR7, Q5IGR8, Q5R621, Q5RBC3, Q5U4X8, Q6GQK9, Q6KFX9, Q6ZXD2, Q76KB1, Q76KB2, Q7LFX5, Q7LGA3, Q7T3S3, Q800H9, Q80UW0, Q86V40, Q8CHI9, Q8IZP7, Q8R3H7, Q91XQ5, Q91ZB4
Diamond homologs: A0MGZ5, A0MGZ7, O60243, Q56UJ5, Q76KB2, Q76LW2, Q800H9, Q80UW0, Q8IZP7, Q91ZB4, Q96MM7, Q9QYK4, Q9QYK5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
118 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 9 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 633697 | NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg) | Pathogenic |
SpliceAI
3682 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:132629092:TCC:T | acceptor_loss | 1.0000 |
| X:132629093:CCT:C | acceptor_loss | 1.0000 |
| X:132629094:C:CC | acceptor_gain | 1.0000 |
| X:132629095:T:G | acceptor_loss | 1.0000 |
| X:132629100:A:AC | acceptor_gain | 1.0000 |
| X:132710259:G:C | acceptor_gain | 1.0000 |
| X:132629090:GTTC:G | acceptor_gain | 0.9900 |
| X:132629091:TTC:T | acceptor_gain | 0.9900 |
| X:132629092:TC:T | acceptor_gain | 0.9900 |
| X:132629093:CC:C | acceptor_gain | 0.9900 |
| X:132629100:A:C | acceptor_gain | 0.9900 |
| X:132710247:CA:C | acceptor_gain | 0.9900 |
| X:132710248:A:AC | acceptor_gain | 0.9900 |
| X:132710248:A:C | acceptor_gain | 0.9900 |
| X:132710259:G:GC | acceptor_gain | 0.9900 |
| X:132758254:A:AC | donor_gain | 0.9900 |
| X:132758255:C:CC | donor_gain | 0.9900 |
| X:132841263:C:T | acceptor_gain | 0.9900 |
| X:132956805:CACC:C | donor_loss | 0.9900 |
| X:132956806:A:AC | donor_gain | 0.9900 |
| X:132956806:ACCT:A | donor_loss | 0.9900 |
| X:132956807:C:A | donor_loss | 0.9900 |
| X:132956807:C:CC | donor_gain | 0.9900 |
| X:132957325:CG:C | acceptor_gain | 0.9900 |
| X:132629089:AGTTC:A | acceptor_gain | 0.9800 |
| X:132639632:A:AC | donor_gain | 0.9800 |
| X:132639633:C:CC | donor_gain | 0.9800 |
| X:132710240:CAAAG:C | acceptor_gain | 0.9800 |
| X:132710241:A:T | acceptor_gain | 0.9800 |
| X:132841263:C:CT | acceptor_gain | 0.9800 |
AlphaMissense
4241 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:132628547:C:A | R498S | 1.000 |
| X:132628547:C:G | R498S | 1.000 |
| X:132628548:C:A | R498M | 1.000 |
| X:132628548:C:G | R498T | 1.000 |
| X:132628560:A:G | L494P | 1.000 |
| X:132628569:G:T | A491D | 1.000 |
| X:132628570:C:G | A491P | 1.000 |
| X:132628590:T:A | D484V | 1.000 |
| X:132628590:T:G | D484A | 1.000 |
| X:132628591:C:A | D484Y | 1.000 |
| X:132628591:C:G | D484H | 1.000 |
| X:132628598:A:C | N481K | 1.000 |
| X:132628598:A:T | N481K | 1.000 |
| X:132628673:A:C | F456L | 1.000 |
| X:132628673:A:T | F456L | 1.000 |
| X:132628674:A:C | F456C | 1.000 |
| X:132628674:A:G | F456S | 1.000 |
| X:132628675:A:G | F456L | 1.000 |
| X:132628685:A:C | F452L | 1.000 |
| X:132628685:A:T | F452L | 1.000 |
| X:132628686:A:C | F452C | 1.000 |
| X:132628686:A:G | F452S | 1.000 |
| X:132628687:A:G | F452L | 1.000 |
| X:132628698:A:G | F448S | 1.000 |
| X:132628699:A:T | F448I | 1.000 |
| X:132628706:C:A | E445D | 1.000 |
| X:132628706:C:G | E445D | 1.000 |
| X:132628707:T:A | E445V | 1.000 |
| X:132628709:A:C | F444L | 1.000 |
| X:132628709:A:T | F444L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000013089 (X:132780340 T>A), RS1000024263 (X:132879453 T>C,G), RS1000037374 (X:132668198 G>A,C), RS1000046375 (X:132946632 C>G,T), RS1000046849 (X:132798084 A>G), RS1000047775 (X:132857412 A>G), RS1000063846 (X:132934705 T>C), RS1000076982 (X:132661063 C>T), RS1000115174 (X:132724662 A>C), RS1000115883 (X:132634029 T>C), RS1000140273 (X:132826430 C>G), RS1000154441 (X:132698352 C>G), RS1000162888 (X:132733560 A>T), RS1000166672 (X:132916453 T>C), RS1000171051 (X:132696379 C>T)
Disease associations
OMIM: gene MIM:300545 | disease phenotypes: MIM:301025
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Paganini-Miozzo syndrome | Limited | X-linked |
Mondo (1): Paganini-Miozzo syndrome (MONDO:0026724)
Orphanet (0):
HPO phenotypes
26 total (26 of 26 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000020 | Urinary incontinence |
| HP:0000233 | Thin vermilion border |
| HP:0000272 | Malar flattening |
| HP:0000303 | Mandibular prognathia |
| HP:0000325 | Triangular face |
| HP:0000341 | Narrow forehead |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000490 | Deeply set eye |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000750 | Delayed speech and language development |
| HP:0001263 | Global developmental delay |
| HP:0001419 | X-linked recessive inheritance |
| HP:0002003 | Large forehead |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002465 | Poor speech |
| HP:0002714 | Downturned corners of mouth |
| HP:0003348 | Hyperalaninemia |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0008551 | Microtia |
| HP:0011003 | High myopia |
| HP:0011463 | Childhood onset |
| HP:0011968 | Feeding difficulties |
| HP:0031936 | Delayed ability to walk |
| HP:0032653 | Elevated lactate:pyruvate ratio |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002127_28 | Periodontitis (Mean PAL) | 9.000000e-06 |
| GCST006442_462 | Educational attainment (years of education) | 9.000000e-13 |
| GCST90000050_86 | Age at first birth | 4.000000e-13 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004784 | self reported educational attainment |
| EFO:0009101 | age at first birth measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 6 |
| methylmercuric chloride | decreases expression, increases expression, affects cotreatment | 3 |
| trichostatin A | increases expression | 2 |
| Benzo(a)pyrene | affects expression, affects methylation | 2 |
| Estradiol | decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | decreases methylation, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| glycidamide | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Fluorouracil | decreases expression | 1 |
| Lead | affects expression | 1 |
| Methotrexate | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: Paganini-Miozzo syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Paganini-Miozzo syndrome, periodontitis