STEEP1

Summary

STEEP1 (STING1 ER exit protein 1, HGNC:26239) is a protein-coding gene on chromosome Xq24, encoding STING ER exit protein (Q9H5V9). Molecular adapter that stimulates membrane curvature formation and subsequent endoplasmic reticulum exit site (ERES) establishment by recruiting PI3K complex I, leading to COPII vesicle-mediated transport. It is a selective cancer dependency (DepMap: 16.3% of cell lines).

While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 63932 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability, X-linked 107 (Moderate, ClinGen) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 87 total — 4 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 21
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 16.3% of screened cell lines
• MANE Select transcript: NM_022101

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26239
Approved symbol	STEEP1
Name	STING1 ER exit protein 1
Location	Xq24
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22965
Ensembl gene	ENSG00000018610
Ensembl biotype	protein_coding
OMIM	301012
Entrez	63932

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000320339, ENST00000469448, ENST00000536133, ENST00000644802, ENST00000868973

RefSeq mRNA: 3 — MANE Select: NM_022101 NM_001170569, NM_001170570, NM_022101

CCDS: CCDS55484, CCDS55485, CCDS94660

Canonical transcript exons

ENST00000644802 — 7 exons

Exon	Start	End
ENSE00000361338	119545463	119545504
ENSE00000675662	119544353	119544491
ENSE00000675663	119542505	119542594
ENSE00003553268	119541328	119541420
ENSE00003645881	119560268	119560385
ENSE00003816949	119565232	119565409
ENSE00003903412	119538149	119539789

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 92.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.7141 / max 175.6751, expressed in 1802 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200282	14.7141	1802

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	92.90	gold quality
stromal cell of endometrium	CL:0002255	87.27	gold quality
secondary oocyte	CL:0000655	87.24	gold quality
buccal mucosa cell	CL:0002336	86.68	gold quality
calcaneal tendon	UBERON:0003701	86.38	gold quality
islet of Langerhans	UBERON:0000006	85.79	gold quality
colonic epithelium	UBERON:0000397	85.60	gold quality
monocyte	CL:0000576	85.58	gold quality
cerebellar cortex	UBERON:0002129	85.50	gold quality
cerebellar hemisphere	UBERON:0002245	85.45	gold quality
mononuclear cell	CL:0000842	85.26	gold quality
popliteal artery	UBERON:0002250	85.24	gold quality
tibial artery	UBERON:0007610	85.23	gold quality
leukocyte	CL:0000738	85.03	gold quality
prefrontal cortex	UBERON:0000451	84.70	gold quality
skin of leg	UBERON:0001511	84.57	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.42	gold quality
aorta	UBERON:0000947	84.33	gold quality
cerebellum	UBERON:0002037	84.18	gold quality
skin of abdomen	UBERON:0001416	83.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.81	gold quality
hindlimb stylopod muscle	UBERON:0004252	83.80	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.77	gold quality
descending thoracic aorta	UBERON:0002345	83.76	gold quality
ganglionic eminence	UBERON:0004023	83.68	gold quality
sural nerve	UBERON:0015488	83.61	gold quality
ventricular zone	UBERON:0003053	83.58	gold quality
right coronary artery	UBERON:0001625	83.45	gold quality
nucleus accumbens	UBERON:0001882	83.45	gold quality
right ovary	UBERON:0002118	83.35	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.15
E-GEOD-124858	no	75.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

77 targeting STEEP1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 16.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• Pathogenic CXorf56 variant was identified in the family with X-linked intellectual disability. (PMID:29374277)
• Novel clinical and genetic insight into CXorf56-associated intellectual disability. (PMID:31822863)
• STEEP mediates STING ER exit and activation of signaling. (PMID:32690950)
• The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes. (PMID:33673493)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	steep1	ENSDARG00000067981
mus_musculus	Steep1	ENSMUSG00000006423
rattus_norvegicus	Steep1	ENSRNOG00000012564
drosophila_melanogaster	CG16865	FBGN0028919
caenorhabditis_elegans		WBGENE00013434

Protein

Protein identifiers

STING ER exit protein — Q9H5V9 (reviewed: Q9H5V9)

All UniProt accessions (1): Q9H5V9

UniProt curated annotations — full annotation on UniProt →

Function. Molecular adapter that stimulates membrane curvature formation and subsequent endoplasmic reticulum exit site (ERES) establishment by recruiting PI3K complex I, leading to COPII vesicle-mediated transport. Promotes endoplasmic reticulum (ER) exit of cGAMP-activated STING1 oligomers.

Subunit / interactions. Interacts with STING1; interaction takes place upon cGAMP-activation and STING1 phosphorylation by MAP3K7/TAK1 and leads to recruitment of PI3K complex I. Interacts with PIK3C3; the STING1-STEEP1 interaction leads to recruitment of PI3K complex I. Interacts with ATG14.

Subcellular location. Cytoplasm. Endoplasmic reticulum membrane. Nucleus.

Disease relevance. Intellectual developmental disorder, X-linked 107 (XLID107) [MIM:301013] A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the STEEP1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H5V9-1	1	yes
Q9H5V9-2	2
Q9H5V9-3	3

RefSeq proteins (3): NP_001164040, NP_001164041, NP_071384* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029704	STEEP-like	Family
IPR057965	STEEP1_dom	Domain

Pfam: PF25809

UniProt features (6 total): splice variant 2, chain 1, coiled-coil region 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8C6J	ELECTRON MICROSCOPY	2.8
9FMD	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H5V9-F1	76.15	0.37

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 (1):

Position	Phenotype
149–178	abrogates interaction with sting1 and impairs sting1-mediated signaling.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 136 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, REACTOME_MRNA_SPLICING, ABBUD_LIF_SIGNALING_1_DN, USF_02, GOBP_MEMBRANE_ORGANIZATION, GOBP_ENDOPLASMIC_RETICULUM_ORGANIZATION, GOBP_PROTEIN_EXIT_FROM_ENDOPLASMIC_RETICULUM, REACTOME_METABOLISM_OF_RNA, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_CELL_BODY

GO Biological Process (5): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), protein exit from endoplasmic reticulum (GO:0032527), endoplasmic reticulum membrane organization (GO:0090158), positive regulation of type I interferon production (GO:0032481), cGAS/STING signaling pathway (GO:0140896)

GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), centrosome (GO:0005813), cell body (GO:0044297), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
mRNA Splicing	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
intracellular membrane-bounded organelle	2
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
intracellular protein transport	1
endoplasmic reticulum organization	1
membrane organization	1
positive regulation of cytokine production	1
regulation of type I interferon production	1
type I interferon production	1
cytoplasmic pattern recognition receptor signaling pathway	1
protein binding	1
molecular adaptor activity	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
endomembrane system	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
centriole	1
microtubule organizing center	1

Protein interactions and networks

STRING

1052 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STEEP1	WDR27	A2RRH5	646
STEEP1	SLC25A43	Q8WUT9	582
STEEP1	ERLIN2	O94905	523
STEEP1	HTR5A	P47898	521
STEEP1	UBE2A	P49459	512
STEEP1	PDXDC1	Q6P996	501
STEEP1	PRSS21	Q9Y6M0	476
STEEP1	SNU13	P55769	451
STEEP1	CRIP2	P52943	443
STEEP1	KIAA2013	Q8IYS2	438
STEEP1	PPP1R26	Q5T8A7	433
STEEP1	HNRNPA1L2	Q32P51	416
STEEP1	EIF1	P41567	416
STEEP1	FUNDC2	Q9BWH2	407
STEEP1	PLD5	Q8N7P1	397

IntAct

41 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
	STEEP1	psi-mi:“MI:0915”(physical association)	0.560
STEEP1		psi-mi:“MI:0915”(physical association)	0.560
PIBF1	STEEP1	psi-mi:“MI:0915”(physical association)	0.560
STEEP1	KIF9	psi-mi:“MI:0915”(physical association)	0.560
HAT1	STEEP1	psi-mi:“MI:0915”(physical association)	0.560
STEEP1	RPRD1B	psi-mi:“MI:0915”(physical association)	0.560
STEEP1	KLHL36	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
STEEP1	SNW1	psi-mi:“MI:0915”(physical association)	0.370
RBM4	STEEP1	psi-mi:“MI:0915”(physical association)	0.370
OTUB1		psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
ORF2	PRMT3	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
SLC16A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
TNPO3	NUDT21	psi-mi:“MI:0914”(association)	0.350
STEEP1	GSTA2	psi-mi:“MI:0914”(association)	0.350
DHX8	RPL14	psi-mi:“MI:0914”(association)	0.350
LMNA	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
DDX52	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
HNRNPC	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
QKI	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
SRSF1	MED19	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (102): PDCL2 (Two-hybrid), CACTIN (Affinity Capture-MS), CHMP3 (Affinity Capture-MS), KLHL36 (Affinity Capture-MS), CXorf56 (Affinity Capture-MS), CACTIN (Affinity Capture-MS), CHMP3 (Affinity Capture-MS), KLHL36 (Affinity Capture-MS), CXorf56 (Affinity Capture-MS), CXorf56 (Proximity Label-MS), CXorf56 (Affinity Capture-MS), CXorf56 (Affinity Capture-MS), CXorf56 (Affinity Capture-MS), CXorf56 (Affinity Capture-MS), CXorf56 (Proximity Label-MS)

ESM2 similar proteins: A0M8R4, A0M8U6, A1AXY8, A2QBH6, A4YZ37, A5EP16, B0RNW7, B2ACV0, B2W9N9, B6HE56, B6QNA1, B8NDP1, C7Z147, C8VDQ3, C9S7Z6, E3QRY8, E3S405, P0AEX5, P0AEX6, P0CL54, Q07DX3, Q07HI5, Q09YK3, Q09YL5, Q0CMY6, Q0V314, Q21D57, Q2IBA3, Q2IBC3, Q2QLE3, Q3BXJ3, Q3T197, Q4UYL9, Q51669, Q5RAT0, Q61419, Q6GML1, Q7RX39, Q7XTG7, Q89GX9

Diamond homologs: Q3T197, Q5RAT0, Q5U515, Q66I61, Q6P338, Q8GWQ6, Q8VDP2, Q9H5V9, Q9V412, A1AFD9, A6TDW3, A8APH3, B0TGP1, B1IT54, B1LDG2, B1XFB3, B4UGV4, B5XU96, B5YQF1, B6I789, B7LFL6, B7LPS0, B7LYY3, B7MME1, B7MZQ2, B7N7K6, B7NI16, B7UI00, B8JFX1, C1D6C4, C5A0M2, C5BCR7, P52060, Q0TDP8, Q2IPY3, Q3A6Y1, Q3ZBP8, Q505I4, Q83JS1, Q8DHG5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 34 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
mRNA Polyadenylation	5	16.9×	7e-04
Processing of Capped Intron-Containing Pre-mRNA	5	15.8×	8e-04
mRNA Splicing - Major Pathway	6	12.6×	7e-04
Dengue Virus-Host Interactions	7	12.3×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	5	13.9×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	2
Uncertain significance	18
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1526423	NM_022101.4(STEEP1):c.598C>T (p.Gln200Ter)	Pathogenic
253628	GRCh37/hg19 Xq24(chrX:118673728-118717682)x0	Pathogenic
523092	NM_022101.4(STEEP1):c.159_160insTA (p.Asp54Ter)	Pathogenic
976767	NM_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del)	Pathogenic
1698675	NM_022101.4(STEEP1):c.163del (p.Arg55fs)	Likely pathogenic
2578554	NM_022101.4(STEEP1):c.79del (p.Leu27fs)	Likely pathogenic

SpliceAI

1002 predictions. Top by Δscore:

Variant	Effect	Δscore
X:119539786:CAGC:C	acceptor_gain	1.0000
X:119541323:CTCA:C	donor_loss	1.0000
X:119541324:TCAC:T	donor_loss	1.0000
X:119541325:CA:C	donor_loss	1.0000
X:119541326:A:AC	donor_gain	1.0000
X:119541326:A:C	donor_loss	1.0000
X:119541326:AC:A	donor_gain	1.0000
X:119541326:ACCAG:A	donor_gain	1.0000
X:119541327:C:CC	donor_gain	1.0000
X:119541327:CC:C	donor_gain	1.0000
X:119541327:CCA:C	donor_gain	1.0000
X:119541327:CCAG:C	donor_gain	1.0000
X:119541327:CCAGC:C	donor_gain	1.0000
X:119541416:TCCCT:T	acceptor_gain	1.0000
X:119541417:CCCT:C	acceptor_gain	1.0000
X:119541417:CCCTC:C	acceptor_gain	1.0000
X:119541418:CCT:C	acceptor_gain	1.0000
X:119541418:CCTC:C	acceptor_gain	1.0000
X:119541419:CT:C	acceptor_gain	1.0000
X:119541419:CTC:C	acceptor_gain	1.0000
X:119541420:TC:T	acceptor_loss	1.0000
X:119541420:TCT:T	acceptor_gain	1.0000
X:119541421:C:A	acceptor_gain	1.0000
X:119541421:C:CC	acceptor_gain	1.0000
X:119541421:C:CG	acceptor_loss	1.0000
X:119542501:TTA:T	donor_loss	1.0000
X:119542502:TAC:T	donor_loss	1.0000
X:119542503:A:AC	donor_gain	1.0000
X:119542503:ACAG:A	donor_gain	1.0000
X:119542503:ACAGC:A	donor_gain	1.0000

AlphaMissense

1464 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:119539749:A:G	L216S	1.000
X:119539755:C:T	G214E	1.000
X:119539756:C:A	G214W	1.000
X:119539756:C:G	G214R	1.000
X:119539756:C:T	G214R	1.000
X:119541362:C:G	R191P	1.000
X:119541363:G:T	R191S	1.000
X:119541368:A:G	L189P	1.000
X:119541371:T:G	Q188P	1.000
X:119541380:A:C	I185S	1.000
X:119541380:A:T	I185N	1.000
X:119541389:G:T	A182D	1.000
X:119541390:C:G	A182P	1.000
X:119541391:A:C	N181K	1.000
X:119541391:A:T	N181K	1.000
X:119541393:T:C	N181D	1.000
X:119541399:C:G	A179P	1.000
X:119541402:A:C	Y178D	1.000
X:119541402:A:G	Y178H	1.000
X:119541405:A:G	S177P	1.000
X:119541410:G:T	A175D	1.000
X:119541411:C:G	A175P	1.000
X:119541417:C:T	E173K	1.000
X:119542507:C:G	A171P	1.000
X:119542533:A:T	I162N	1.000
X:119542536:G:A	T161I	1.000
X:119542539:G:A	S160F	1.000
X:119542539:G:T	S160Y	1.000
X:119542540:A:G	S160P	1.000
X:119542542:A:C	V159G	1.000

dbSNP variants (sampled 300 via entrez): RS1000028074 (X:119562757 A>T), RS1000089773 (X:119549363 T>C), RS1000137636 (X:119554025 G>A,C), RS1000170705 (X:119553601 A>T), RS1000374092 (X:119544662 C>A,T), RS1000466846 (X:119549289 A>C), RS1000593837 (X:119565085 G>A,T), RS1000601964 (X:119563771 G>A,C), RS1000690645 (X:119547172 T>C), RS1000743888 (X:119545126 G>A), RS1000966179 (X:119557516 A>T), RS1000971507 (X:119539296 C>A), RS1001123972 (X:119546612 C>T), RS1001347473 (X:119543085 C>T), RS1001446322 (X:119552352 T>G)

Disease associations

OMIM: gene MIM:301012 | disease phenotypes: MIM:301013

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, X-linked 107	Moderate	X-linked
X-linked syndromic intellectual disability	Limited	X-linked

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
intellectual disability, X-linked 107	Moderate	XL

Mondo (2): intellectual disability, X-linked 107 (MONDO:0049222), X-linked syndromic intellectual disability (MONDO:0020119)

Orphanet (0):

HPO phenotypes

21 total (21 of 21 shown, HPO-id order):

HPO	Term
HP:0000219	Thin upper lip vermilion
HP:0000275	Narrow face
HP:0000276	Long face
HP:0000303	Mandibular prognathia
HP:0000319	Smooth philtrum
HP:0000337	Broad forehead
HP:0000400	Macrotia
HP:0000582	Upslanted palpebral fissure
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000739	Anxiety
HP:0000752	Hyperactivity
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001417	X-linked inheritance
HP:0001513	Obesity
HP:0007018	Attention deficit hyperactivity disorder
HP:0009899	Prominent crus of helix
HP:0011245	Abnormality of superior crus of antihelix
HP:0011822	Broad chin

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007876_61	Estimated glomerular filtration rate	5.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725082 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects cotreatment, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	2
Valproic Acid	decreases expression	2
bisphenol F	affects cotreatment, increases expression	1
bisphenol A	affects cotreatment, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Copper	affects binding, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Disulfiram	affects binding, decreases expression	1
Gallic Acid	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Sodium Selenite	decreases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697594	Binding	Inhibition of CXORF56 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

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