HS2ST1

Summary

HS2ST1 (heparan sulfate 2-O-sulfotransferase 1, HGNC:5193) is a protein-coding gene on chromosome 1p22.3, encoding Heparan sulfate 2-O-sulfotransferase 1 (Q7LGA3). Catalyzes the transfer of a sulfo group from 3’-phospho-5’-adenylyl sulfate (PAPS) to the 2-OH position of iduronic acid (IdoA) or glucuronic acid (GlcA) within the heparan sulfate (HS) chain and participates in HS biosynthesis.

Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene.

Source: NCBI Gene 9653 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurofacioskeletal syndrome with or without renal agenesis (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 69 total — 5 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 60
• MANE Select transcript: NM_012262

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5193
Approved symbol	HS2ST1
Name	heparan sulfate 2-O-sulfotransferase 1
Location	1p22.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0448
Ensembl gene	ENSG00000153936
Ensembl biotype	protein_coding
OMIM	604844
Entrez	9653

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 nonsense_mediated_decay

ENST00000370550, ENST00000370551, ENST00000591456, ENST00000687893, ENST00000689904, ENST00000690674, ENST00000693745

RefSeq mRNA: 2 — MANE Select: NM_012262 NM_001134492, NM_012262

CCDS: CCDS44171, CCDS711

Canonical transcript exons

ENST00000370550 — 7 exons

Exon	Start	End
ENSE00001452994	87104470	87109982
ENSE00001817714	86914635	86915160
ENSE00003472687	87072934	87073172
ENSE00003528348	87103432	87103589
ENSE00003577788	87092531	87092669
ENSE00003618230	87097838	87097935
ENSE00003639239	87084194	87084279

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 96.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.4414 / max 110.3036, expressed in 1671 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3884	7.9211	1658
3885	0.5203	280

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	96.16	gold quality
buccal mucosa cell	CL:0002336	95.10	gold quality
germinal epithelium of ovary	UBERON:0001304	91.25	gold quality
endothelial cell	CL:0000115	90.45	gold quality
right adrenal gland cortex	UBERON:0035827	89.03	gold quality
left adrenal gland	UBERON:0001234	88.97	gold quality
adrenal gland	UBERON:0002369	88.93	gold quality
choroid plexus epithelium	UBERON:0003911	88.80	gold quality
right adrenal gland	UBERON:0001233	88.67	gold quality
left adrenal gland cortex	UBERON:0035825	88.45	gold quality
ventricular zone	UBERON:0003053	88.35	gold quality
stromal cell of endometrium	CL:0002255	88.25	gold quality
pigmented layer of retina	UBERON:0001782	88.04	gold quality
adrenal cortex	UBERON:0001235	87.72	gold quality
parietal pleura	UBERON:0002400	86.59	gold quality
islet of Langerhans	UBERON:0000006	86.12	gold quality
pleura	UBERON:0000977	85.38	gold quality
cortical plate	UBERON:0005343	85.34	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.07	gold quality
embryo	UBERON:0000922	84.87	gold quality
calcaneal tendon	UBERON:0003701	84.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.36	gold quality
visceral pleura	UBERON:0002401	84.15	gold quality
ganglionic eminence	UBERON:0004023	84.11	gold quality
cranial nerve II	UBERON:0000941	83.65	gold quality
corpus epididymis	UBERON:0004359	83.49	gold quality
gall bladder	UBERON:0002110	83.27	gold quality
entorhinal cortex	UBERON:0002728	82.97	gold quality
jejunal mucosa	UBERON:0000399	82.87	gold quality
caudate nucleus	UBERON:0001873	82.70	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.93

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HIF1A

miRNA regulators (miRDB)

239 targeting HS2ST1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-5696	99.98	72.36	4487
HSA-LET-7A-5P	99.98	72.29	1790

Literature-anchored findings (GeneRIF, showing 4)

• analysis of differences and similarities various residues play in the biological roles of the HS-2OST and CS-2OST enzymes (PMID:17227754)
• C5-epimerase and 2-O-sulfotransferase in association generate extended domains of consecutive GlcNS-IdoA2S Sequence. (PMID:25594747)
• HS2ST1-dependent signaling pathways determine breast cancer cell viability, matrix interactions, and invasive behavior. (PMID:32573871)
• Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. (PMID:33159882)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	hs2st1b	ENSDARG00000062008
danio_rerio	hs2st1a	ENSDARG00000099478
mus_musculus	Hs2st1	ENSMUSG00000040151
rattus_norvegicus	Hs2st1	ENSRNOG00000012549
drosophila_melanogaster	Hs2st	FBGN0024230
caenorhabditis_elegans		WBGENE00002029

Paralogs (1): UST (ENSG00000111962)

Protein

Protein identifiers

Heparan sulfate 2-O-sulfotransferase 1 — Q7LGA3 (reviewed: Q7LGA3)

Alternative names: 2-O-sulfotransferase, HS 2-O-sulfotransferase, Heparan sulfate 2-sulfotransferase

All UniProt accessions (6): Q7LGA3, A0A8I5KR52, A0A8I5KUP9, A0A8I5KW95, A0A8I5QKN0, K7EP71

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of a sulfo group from 3’-phospho-5’-adenylyl sulfate (PAPS) to the 2-OH position of iduronic acid (IdoA) or glucuronic acid (GlcA) within the heparan sulfate (HS) chain and participates in HS biosynthesis. Required for metanephric development of kidney formation, suggesting that 2-O-sulfation within HS is essential for signaling between ureteric bud and metanephric mesenchyme.

Subunit / interactions. Homotrimer. Interacts with the C5-epimerase GLCE.

Subcellular location. Golgi apparatus membrane.

Post-translational modifications. N-glycosylated.

Disease relevance. Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) [MIM:619194] An autosomal recessive syndrome characterized by developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands and feet with broad fingertips and toes, and dysmorphic features such as coarse face, upslanted palpebral fissures, broad nasal tip and wide mouth. Some patients manifest unilateral or bilateral renal agenesis. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the sulfotransferase 3 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q7LGA3-1	1	yes
Q7LGA3-2	2
Q7LGA3-3	3

RefSeq proteins (2): NP_001127964, NP_036394* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005331	Sulfotransferase	Family
IPR007734	Heparan_SO4_2-O-STrfase	Family
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF03567

Enzyme classification (BRENDA):

• EC 2.8.2.B6 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

UniProt features (29 total): binding site 12, splice variant 3, sequence variant 3, topological domain 2, glycosylation site 2, disulfide bond 2, active site 2, chain 1, transmembrane region 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7LGA3-F1	91.89	0.76

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 (2): 140; 142

Ligand- & substrate-binding residues (12): 86; 87; 88; 164; 172; 279; 285; 290; 293; 83; 84; 85

Disulfide bonds (2): 201–209, 222–228

Glycosylation sites (2): 108, 127

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2022928	HS-GAG biosynthesis

MSigDB gene sets: 441 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, SP1_Q2_01, EFC_Q6, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, PUJANA_CHEK2_PCC_NETWORK, WATANABE_ULCERATIVE_COLITIS_WITH_CANCER_UP, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_NEPHRON_EPITHELIUM_DEVELOPMENT, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS

GO Biological Process (4): gene expression (GO:0010467), heparan sulfate proteoglycan biosynthetic process (GO:0015012), heparin proteoglycan metabolic process (GO:0030202), ureteric bud formation (GO:0060676)

GO Molecular Function (4): heparan sulfate 2-sulfotransferase activity (GO:0004394), protein binding (GO:0005515), sulfotransferase activity (GO:0008146), transferase activity (GO:0016740)

GO Cellular Component (3): Golgi membrane (GO:0000139), membrane (GO:0016020), Golgi apparatus (GO:0005794)

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
macromolecule biosynthetic process	1
proteoglycan biosynthetic process	1
heparan sulfate proteoglycan metabolic process	1
protein O-linked glycosylation via xylose	1
proteoglycan metabolic process	1
ureteric bud morphogenesis	1
mesonephric tubule formation	1
heparan sulfate sulfotransferase activity	1
binding	1
transferase activity, transferring sulphur-containing groups	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

730 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HS2ST1	HS6ST1	O60243	996
HS2ST1	GLCE	O94923	881
HS2ST1	HS3ST1	O14792	877
HS2ST1	NDST1	P52848	821
HS2ST1	NDST2	P52849	803
HS2ST1	EXT1	Q16394	802
HS2ST1	EXT2	Q93063	774
HS2ST1	HS3ST5	Q8IZT8	737
HS2ST1	HS6ST2	Q96MM7	721
HS2ST1	NDST3	O95803	711
HS2ST1	HS3ST6	Q96QI5	711
HS2ST1	EXTL3	O43909	699
HS2ST1	HS3ST2	Q9Y278	681
HS2ST1	HS3ST4	Q9Y661	667
HS2ST1	CHST15	Q7LFX5	666

IntAct

95 interactions, top by confidence:

A	B	Type	Score
HS2ST1	SLC7A1	psi-mi:“MI:0914”(association)	0.730
STX5	GOSR2	psi-mi:“MI:0914”(association)	0.670
USE1	NBAS	psi-mi:“MI:0914”(association)	0.640
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
rep	AGPS	psi-mi:“MI:0914”(association)	0.530
PDPK1	AGRN	psi-mi:“MI:0914”(association)	0.530
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
FUT1	NDUFS4	psi-mi:“MI:0914”(association)	0.530
SLC7A1	STXBP3	psi-mi:“MI:0914”(association)	0.530
	VAPB	psi-mi:“MI:0914”(association)	0.500
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
HS2ST1	ADRB2	psi-mi:“MI:0915”(physical association)	0.370
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
OCRL	MYO1C	psi-mi:“MI:0914”(association)	0.350
UXS1	IPO7	psi-mi:“MI:0914”(association)	0.350
HS2ST1	USP9Y	psi-mi:“MI:0914”(association)	0.350
P2RX2	C1QL1	psi-mi:“MI:0914”(association)	0.350
	AP3D1	psi-mi:“MI:0914”(association)	0.350
rep	CEBPZOS	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
DNAJA1	HSPA8	psi-mi:“MI:0914”(association)	0.350
TMED10	PGRMC1	psi-mi:“MI:0914”(association)	0.350
VPS35	KIF2A	psi-mi:“MI:0914”(association)	0.350
YIPF5	EI24	psi-mi:“MI:0914”(association)	0.350
ATP2A1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SPPL2B	GPR89A	psi-mi:“MI:0914”(association)	0.350

BioGRID (185): ATP12A (Affinity Capture-MS), NMNAT3 (Affinity Capture-MS), DIAPH3 (Affinity Capture-MS), CKAP4 (Affinity Capture-MS), HLA-A (Affinity Capture-MS), TBC1D23 (Affinity Capture-MS), DYM (Affinity Capture-MS), PIGU (Affinity Capture-MS), HS2ST1 (Affinity Capture-MS), HS2ST1 (Affinity Capture-MS), HS2ST1 (Affinity Capture-MS), HS2ST1 (Affinity Capture-MS), HS2ST1 (Affinity Capture-MS), HS2ST1 (Affinity Capture-MS), NMNAT3 (Affinity Capture-MS)

ESM2 similar proteins: A0A8C2LVE3, A2BGL3, F4HXW9, O08889, O17645, O43909, O43916, O93336, O93403, O95461, P25722, P69478, P79948, Q0IIY2, Q2TBF2, Q5NDE4, Q5NDE5, Q5NDE6, Q5NDE7, Q5NDE8, Q5NVB3, Q5R621, Q5RJQ0, Q5XHM7, Q66PG1, Q66PG2, Q66PG3, Q6DBY9, Q6NVP8, Q6P9A2, Q6PA90, Q76EC5, Q76KB1, Q7LFX5, Q7LGA3, Q7LGC8, Q7T3S3, Q800H9, Q8BUB6, Q8CHI9

Diamond homologs: A0A8C2LVE3, O08889, O17645, O93336, P25722, Q5R621, Q76KB1, Q7LGA3, Q86BJ3, Q8BUB6, Q8R3H7, Q9Y2C2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 132 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Glycosaminoglycan-protein linkage region biosynthesis	5	23.2×	2e-04
R-HSA-425366	8	17.1×	3e-06
SLC-mediated transmembrane transport	12	8.3×	3e-06
Transport of small molecules	16	4.7×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
amino acid transport	6	16.1×	1e-03
transport across blood-brain barrier	7	10.8×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

69 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	1
Uncertain significance	41
Likely benign	8
Benign	2

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
997410	NM_012262.4(HS2ST1):c.342del (p.Pro114_Val115insTer)	Pathogenic
997411	NM_012262.4(HS2ST1):c.527T>C (p.Phe176Ser)	Pathogenic
997412	NM_012262.4(HS2ST1):c.493G>T (p.Asp165Tyr)	Pathogenic
997413	NM_012262.4(HS2ST1):c.59_62delinsGAA (p.Phe20_Ala21delinsTer)	Pathogenic
997414	NM_012262.4(HS2ST1):c.567A>C (p.Arg189Ser)	Pathogenic
3572969	NM_012262.4(HS2ST1):c.95_100del (p.Gln32_Lys33del)	Likely pathogenic

SpliceAI

2447 predictions. Top by Δscore:

Variant	Effect	Δscore
1:86915157:C:G	donor_gain	1.0000
1:86977866:A:T	donor_gain	1.0000
1:87072932:A:AG	acceptor_gain	1.0000
1:87072933:G:GG	acceptor_gain	1.0000
1:87072933:G:GT	acceptor_gain	1.0000
1:87072933:GA:G	acceptor_gain	1.0000
1:87072933:GAA:G	acceptor_gain	1.0000
1:87072933:GAAA:G	acceptor_gain	1.0000
1:87073168:ATCAG:A	donor_loss	1.0000
1:87073169:TCAG:T	donor_loss	1.0000
1:87073170:CAGG:C	donor_loss	1.0000
1:87073171:AGG:A	donor_loss	1.0000
1:87073172:GG:G	donor_loss	1.0000
1:87073172:GGTAA:G	donor_loss	1.0000
1:87073173:G:A	donor_loss	1.0000
1:87073174:T:A	donor_loss	1.0000
1:87073174:T:G	donor_loss	1.0000
1:87084188:TTTTA:T	acceptor_loss	1.0000
1:87084189:TTTA:T	acceptor_loss	1.0000
1:87084190:TTA:T	acceptor_loss	1.0000
1:87084191:TAG:T	acceptor_loss	1.0000
1:87084192:A:AG	acceptor_gain	1.0000
1:87084192:A:G	acceptor_loss	1.0000
1:87084192:A:T	acceptor_loss	1.0000
1:87084193:G:GC	acceptor_loss	1.0000
1:87084193:G:GG	acceptor_gain	1.0000
1:87084193:GGT:G	acceptor_gain	1.0000
1:87084193:GGTGC:G	acceptor_gain	1.0000
1:87084275:GCAAA:G	donor_gain	1.0000
1:87084276:CAAAG:C	donor_loss	1.0000

AlphaMissense

2366 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:87073046:C:A	N79K	1.000
1:87073046:C:G	N79K	1.000
1:87073048:G:C	R80T	1.000
1:87073049:A:C	R80S	1.000
1:87073049:A:T	R80S	1.000
1:87073051:T:A	V81D	1.000
1:87073057:A:T	K83I	1.000
1:87073058:A:C	K83N	1.000
1:87073058:A:T	K83N	1.000
1:87073063:C:A	A85E	1.000
1:87073065:A:C	S86R	1.000
1:87073066:G:A	S86N	1.000
1:87073066:G:T	S86I	1.000
1:87073067:C:A	S86R	1.000
1:87073067:C:G	S86R	1.000
1:87073071:T:C	S88P	1.000
1:87073087:C:A	A93D	1.000
1:87073125:C:G	H106D	1.000
1:87084252:G:A	G141E	1.000
1:87084254:C:G	H142D	1.000
1:87084255:A:G	H142R	1.000
1:87084256:C:A	H142Q	1.000
1:87084256:C:G	H142Q	1.000
1:87092564:T:A	N161K	1.000
1:87092564:T:G	N161K	1.000
1:87092572:G:C	R164T	1.000
1:87092572:G:T	R164M	1.000
1:87092573:G:C	R164S	1.000
1:87092573:G:T	R164S	1.000
1:87092607:T:C	F176L	1.000

dbSNP variants (sampled 300 via entrez): RS1000026662 (1:87050120 T>A,G), RS1000043027 (1:87102369 A>T), RS1000048937 (1:86941939 G>A), RS1000065441 (1:87095520 T>A), RS1000067630 (1:87008775 T>C), RS1000078144 (1:86928385 A>G), RS1000078510 (1:87009096 G>A), RS1000078703 (1:87049743 G>A), RS1000092992 (1:86993816 C>G), RS1000093795 (1:86962090 A>G), RS1000111241 (1:87076379 T>A,G), RS1000112626 (1:87106158 G>A), RS1000123775 (1:86918281 C>A), RS1000125274 (1:87006408 A>G), RS1000130656 (1:87078111 A>T)

Disease associations

OMIM: gene MIM:604844 | disease phenotypes: MIM:619194

GenCC curated gene-disease

Disease	Classification	Inheritance
neurofacioskeletal syndrome with or without renal agenesis	Strong	Autosomal recessive

Mondo (1): neurofacioskeletal syndrome with or without renal agenesis (MONDO:0030966)

Orphanet (0):

HPO phenotypes

60 total (30 of 60 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000072	Hydroureter
HP:0000122	Unilateral renal agenesis
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000176	Submucous cleft hard palate
HP:0000219	Thin upper lip vermilion
HP:0000278	Retrognathia
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000316	Hypertelorism
HP:0000341	Narrow forehead
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000455	Broad nasal tip
HP:0000470	Short neck
HP:0000582	Upslanted palpebral fissure
HP:0000627	Posterior embryotoxon
HP:0000629	Periorbital fullness
HP:0000691	Microdontia
HP:0000750	Delayed speech and language development
HP:0000767	Pectus excavatum
HP:0001134	Anterior polar cataract
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001263	Global developmental delay

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006088_51	Familial squamous cell lung carcinoma	5.000000e-06
GCST009391_1105	Metabolite levels	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006953	family history of lung cancer
EFO:0010447	3-hydroxyanthranilic acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression	4
Benzo(a)pyrene	decreases expression	3
Cisplatin	affects reaction, decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression	1
salinomycin	decreases expression	1
triacsin C	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Sunitinib	decreases expression	1
Carbamazepine	affects expression	1
Demecolcine	decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Piroxicam	affects reaction, decreases expression	1
Quercetin	decreases expression	1
Rotenone	increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Vincristine	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases methylation	1
Arachidonic Acid	decreases expression	1
Zinc Sulfate	decreases expression	1
Okadaic Acid	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1ZJ	HAP1 HS2ST1 (-) 1	Cancer cell line	Male
CVCL_E1ZK	HAP1 HS2ST1 (-) 2	Cancer cell line	Male
CVCL_E1ZL	HAP1 HS2ST1 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.