DBR1

Summary

DBR1 (debranching RNA lariats 1, HGNC:15594) is a protein-coding gene on chromosome 3q22.3, encoding Lariat debranching enzyme (Q9UK59). Cleaves the 2’-5’ phosphodiester linkage at the branch point of excised lariat intron RNA and converts them into linear molecules that can be subsequently degraded, thereby facilitating ribonucleotide turnover. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2’-5’ prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication.

Source: NCBI Gene 51163 — RefSeq curated summary.

At a glance

• Gene–disease (curated): encephalitis, acute, infection (viral)-induced, susceptibility to, 11 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 257 total — 1 pathogenic
• Phenotypes (HPO): 34
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_016216

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15594
Approved symbol	DBR1
Name	debranching RNA lariats 1
Location	3q22.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000138231
Ensembl biotype	protein_coding
OMIM	607024
Entrez	51163

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000260803, ENST00000460271, ENST00000463982, ENST00000477557, ENST00000698921, ENST00000698922, ENST00000698923, ENST00000698924, ENST00000698925, ENST00000698926

RefSeq mRNA: 1 — MANE Select: NM_016216 NM_016216

CCDS: CCDS33863

Canonical transcript exons

ENST00000260803 — 8 exons

Exon	Start	End
ENSE00001426898	138174599	138174921
ENSE00003975185	138173502	138173626
ENSE00003975190	138167081	138167305
ENSE00003975191	138163778	138163858
ENSE00003975197	138170107	138170192
ENSE00003975198	138160988	138162582
ENSE00003975199	138163349	138163494
ENSE00003975203	138171633	138171713

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 90.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.3588 / max 125.4906, expressed in 1781 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
44752	9.0881	1771
44751	1.2707	546

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	90.43	silver quality
calcaneal tendon	UBERON:0003701	87.96	gold quality
tendon of biceps brachii	UBERON:0008188	87.81	gold quality
tendon	UBERON:0000043	86.92	gold quality
amniotic fluid	UBERON:0000173	85.72	gold quality
germinal epithelium of ovary	UBERON:0001304	85.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.83	gold quality
epithelium of nasopharynx	UBERON:0001951	82.79	gold quality
nasopharynx	UBERON:0001728	82.78	gold quality
ganglionic eminence	UBERON:0004023	82.72	gold quality
islet of Langerhans	UBERON:0000006	82.21	gold quality
cortical plate	UBERON:0005343	82.18	gold quality
ventricular zone	UBERON:0003053	81.69	gold quality
endometrium	UBERON:0001295	81.48	gold quality
monocyte	CL:0000576	81.41	gold quality
medial globus pallidus	UBERON:0002477	81.41	gold quality
leukocyte	CL:0000738	81.40	gold quality
body of pancreas	UBERON:0001150	81.37	gold quality
mononuclear cell	CL:0000842	81.19	gold quality
descending thoracic aorta	UBERON:0002345	80.70	gold quality
pancreas	UBERON:0001264	80.64	gold quality
spleen	UBERON:0002106	80.55	gold quality
granulocyte	CL:0000094	80.54	gold quality
left ovary	UBERON:0002119	80.41	gold quality
right adrenal gland cortex	UBERON:0035827	80.38	gold quality
ovary	UBERON:0000992	80.35	gold quality
corpus epididymis	UBERON:0004359	80.33	gold quality
bone marrow	UBERON:0002371	80.30	gold quality
right adrenal gland	UBERON:0001233	80.15	gold quality
body of stomach	UBERON:0001161	80.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.33
E-GEOD-110499	no	523.37

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting DBR1, 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-340-5P	100.00	72.50	4437
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-33A-3P	99.70	70.27	3362

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 11)

• Dbr1 protein cleaves the 2’-5’ phosphodiester bond of intron lariats, necessary for subsequent intron degradation that follows pre-mRNA splicing. (PMID:1850323)
• Inhibition of DBR1 caused a significant reduction in the formation of intermediate and full-length HIV-1 cDNA. (PMID:24672043)
• Results of protein-protein interaction between human Dbr1 and factors found in the Intron Large complex identify Xab2 and a novel protein CWF19L1 as specific interactors of DBR1. (PMID:25671812)
• saturation mutagenesis of DBR1 and Gal4 and show that the experimental phenotypes for over 80% of the mutations correlate well with predicted effects of mutations on protein stability and RNA binding affinity. (PMID:26797105)
• Transcriptomic sequencing confirmed the effect of hDBR1 on RNA splicing, and metabolite profiling supported the observation that neoplasm is triggered by a decrease in hDBR1 expression both in vitro and in vivo. (PMID:28504715)
• findings support a new view of the early steps in HIV genome replication - they support a model in which lariat formation of viral genomic RNA is important for minus-strand transfer, with DBR1 being required to resolve the lariat to allow reverse transcription to proceed (PMID:28931690)
• The Role of DBR1 as a Candidate Prognosis Biomarker in Esophageal Squamous Cell Carcinoma. (PMID:35244467)
• Crystal Structure of the RNA Lariat Debranching Enzyme Dbr1 with Hydrolyzed Phosphorothioate RNA Product. (PMID:36484984)
• A founder DBR1 variant causes a lethal form of congenital ichthyosis. (PMID:37656279)
• Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. (PMID:37800682)
• The debranching enzyme Dbr1 regulates lariat turnover and intron splicing. (PMID:38816363)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dbr1	ENSDARG00000056923
mus_musculus	Dbr1	ENSMUSG00000032469
rattus_norvegicus	Dbr1	ENSRNOG00000014588
drosophila_melanogaster	ldbr	FBGN0035838
caenorhabditis_elegans	dbr-1	WBGENE00000937

Protein

Protein identifiers

Lariat debranching enzyme — Q9UK59 (reviewed: Q9UK59)

All UniProt accessions (7): A0A8V8TMF7, A0A8V8TMH0, A0A8V8TMX5, A0A8V8TNX0, A0A8V8TP85, Q9UK59, F8WAY1

UniProt curated annotations — full annotation on UniProt →

Function. Cleaves the 2’-5’ phosphodiester linkage at the branch point of excised lariat intron RNA and converts them into linear molecules that can be subsequently degraded, thereby facilitating ribonucleotide turnover. Linked to its role in pre-mRNA processing mechanism, may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis and have an antiviral cell-intrinsic defense function in the brainstem.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed, strongest expression in the spinal cord and brainstem.

Disease relevance. Encephalitis, acute, infection (viral)-induced, 11 (IIAE11) [MIM:619441] An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis affecting the brainstem and induced by neurotropic viruses, such as herpes simplex virus-1, influenza B virus or norovirus. Disease susceptibility is associated with variants affecting the gene represented in this entry. Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) [MIM:620510] An autosomal recessive disorder characterized by premature birth, severe intrauterine growth deficiency, congenital ichthyosis-like features such as collodion membrane, severe skin peeling and xerosis, and death before the first year of life. Patients also exhibit bronchopulmonary disease, thrombocytopenia, and neutropenia. Additional variable features include cardiac anomalies, seizures, encephalopathy, cholestasis, and cataract. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Active in presence of diverse metals including Fe(2+), Zn(2+), Mn(2+). Also activated by Ca(2+). Binds two metal cations in two adjacent alpha and beta metal-binding pockets.

Cofactor. Binds 2 divalent metal cations per subunit.

Similarity. Belongs to the lariat debranching enzyme family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UK59-1	1	yes
Q9UK59-2	2

RefSeq proteins (1): NP_057300* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004843	Calcineurin-like_PHP	Domain
IPR007708	DBR1_C	Domain
IPR029052	Metallo-depent_PP-like	Homologous_superfamily
IPR041816	Dbr1_N	Domain

Pfam: PF00149, PF05011

UniProt features (34 total): modified residue 8, binding site 7, sequence variant 5, compositionally biased region 5, region of interest 3, splice variant 2, sequence conflict 2, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UK59-F1	79.04	0.67

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (7): 10; 39; 84; 174; 226; 228; 8

Post-translational modifications (8): 128, 464, 474, 478, 479, 485, 499, 514

Mutagenesis-validated functional residues (1):

Position	Phenotype
85	no effect on protein abundance. loss of rna lariat debranching enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 213 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, TAATAAT_MIR126, GOMF_NUCLEASE_ACTIVITY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_PROTEIN_STABILIZATION, GOBP_RNA_SPLICING, GOBP_REGULATION_OF_PROTEIN_STABILITY, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, ELK1_01, chr3q22, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_MAGENTA_DN, BENPORATH_OCT4_TARGETS

GO Biological Process (5): RNA fragment catabolic process (GO:0000292), RNA splicing, via transesterification reactions (GO:0000375), mRNA splicing, via spliceosome (GO:0000398), protein stabilization (GO:0050821), mRNA processing (GO:0006397)

GO Molecular Function (5): RNA binding (GO:0003723), RNA lariat debranching enzyme activity (GO:0008419), metal ion binding (GO:0046872), hydrolase activity (GO:0016787), hydrolase activity, acting on ester bonds (GO:0016788)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA catabolic process	1
RNA splicing	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
regulation of protein stability	1
RNA processing	1
mRNA metabolic process	1
nucleic acid binding	1
RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism	1
cation binding	1
catalytic activity	1
hydrolase activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1496 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DBR1	DROSHA	Q9NRR4	627
DBR1	XPO5	Q9HAV4	626
DBR1	DICER1	Q9UPY3	593
DBR1	DHX38	Q92620	561
DBR1	CWF19L2	Q2TBE0	549
DBR1	DHX15	O43143	531
DBR1	TARDBP	Q13148	530
DBR1	XAB2	Q9HCS7	518
DBR1	NME8	Q8N427	516
DBR1	PRPF18	Q99633	494
DBR1	TFIP11	Q9UBB9	486
DBR1	SUPT5H	O00267	479
DBR1	SNRPC	P09234	472
DBR1	DGCR8	Q8WYQ5	443
DBR1	HSP90AA1	P07900	432

IntAct

35 interactions, top by confidence:

A	B	Type	Score
CSNK1A1	FAM83G	psi-mi:“MI:0914”(association)	0.900
EGFR	CTNND1	psi-mi:“MI:0914”(association)	0.750
PLK1	C1orf226	psi-mi:“MI:0914”(association)	0.560
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
DBR1	SPTAN1	psi-mi:“MI:0915”(physical association)	0.400
DBR1	CWF19L1	psi-mi:“MI:0915”(physical association)	0.400
Immt	GOSR1	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
DBR1	CWF19L1	psi-mi:“MI:0914”(association)	0.350
TIFAB	DDX3X	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
	GTPBP10	psi-mi:“MI:0914”(association)	0.350
	EIF3F	psi-mi:“MI:0914”(association)	0.350
	POLRMT	psi-mi:“MI:0914”(association)	0.350
	SUPT5H	psi-mi:“MI:0914”(association)	0.350
	GTPBP1	psi-mi:“MI:0914”(association)	0.350
	HNRNPDL	psi-mi:“MI:0914”(association)	0.350
	DDX3X	psi-mi:“MI:0914”(association)	0.350
	RTCA	psi-mi:“MI:0914”(association)	0.350
	KIF2A	psi-mi:“MI:0914”(association)	0.350

BioGRID (49): DBR1 (Affinity Capture-MS), DHX38 (Co-fractionation), SKIV2L2 (Co-fractionation), DBR1 (Affinity Capture-MS), DBR1 (Biochemical Activity), DBR1 (Affinity Capture-MS), DBR1 (Affinity Capture-MS), DBR1 (Affinity Capture-MS), MPLKIP (Affinity Capture-MS), CWF19L1 (Affinity Capture-MS), DBR1 (Affinity Capture-MS), DBR1 (Affinity Capture-MS), DBR1 (Proximity Label-MS), DBR1 (Affinity Capture-MS), DBR1 (Proximity Label-MS)

ESM2 similar proteins: A1L251, A1Z8J0, A8XUS3, B8ARK7, C4M1P9, O13648, O13765, O17403, O44476, O74516, O74927, O81395, P24309, P32783, P38207, P48460, P87175, Q09683, Q10155, Q10264, Q10313, Q10414, Q18161, Q22306, Q23255, Q29FE1, Q45EK7, Q5RBG4, Q5ZLM2, Q61D44, Q61E36, Q6CKI0, Q6FML4, Q6FPH9, Q6GPB8, Q6P886, Q7T3E4, Q7XWV4, Q7ZWU9, Q84WU9

Diamond homologs: C4M1P9, O13765, P24309, Q29FE1, Q5ZLM2, Q61D44, Q6AU07, Q6GPB8, Q6P886, Q7T3E4, Q7ZWU9, Q923B1, Q94K01, Q966M6, Q9UK59, Q9VSD7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	135
Likely benign	95
Benign	16

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3254746	NM_016216.4(DBR1):c.589dup (p.Arg197fs)	Pathogenic

SpliceAI

807 predictions. Top by Δscore:

Variant	Effect	Δscore
3:138162578:CCCAC:C	acceptor_gain	1.0000
3:138162579:CCAC:C	acceptor_gain	1.0000
3:138162579:CCACC:C	acceptor_gain	1.0000
3:138162580:CAC:C	acceptor_gain	1.0000
3:138162580:CACC:C	acceptor_gain	1.0000
3:138162581:ACCTA:A	acceptor_loss	1.0000
3:138162583:C:CA	acceptor_loss	1.0000
3:138162583:C:CC	acceptor_gain	1.0000
3:138163345:TTA:T	donor_loss	1.0000
3:138163346:TACCT:T	donor_loss	1.0000
3:138163347:A:AC	donor_gain	1.0000
3:138163347:A:AG	donor_loss	1.0000
3:138163347:AC:A	donor_gain	1.0000
3:138163348:C:CC	donor_gain	1.0000
3:138163348:CC:C	donor_gain	1.0000
3:138163348:CCT:C	donor_gain	1.0000
3:138163348:CCTT:C	donor_gain	1.0000
3:138163348:CCTTG:C	donor_gain	1.0000
3:138163491:ATAT:A	acceptor_gain	1.0000
3:138163492:TAT:T	acceptor_gain	1.0000
3:138163495:C:CC	acceptor_gain	1.0000
3:138163495:CTAC:C	acceptor_loss	1.0000
3:138167075:TTCTA:T	donor_loss	1.0000
3:138167076:TCTAC:T	donor_loss	1.0000
3:138167077:CTA:C	donor_loss	1.0000
3:138167078:TAC:T	donor_loss	1.0000
3:138167080:CCTG:C	donor_loss	1.0000
3:138167177:T:TA	donor_gain	1.0000
3:138167307:T:C	acceptor_gain	1.0000
3:138167310:C:CT	acceptor_gain	1.0000

AlphaMissense

3629 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:138167113:G:C	H228D	1.000
3:138167115:A:G	L227P	1.000
3:138167117:G:C	H226Q	1.000
3:138167117:G:T	H226Q	1.000
3:138167119:G:C	H226D	1.000
3:138167269:A:G	W176R	1.000
3:138167269:A:T	W176R	1.000
3:138167275:G:C	H174D	1.000
3:138170142:G:C	H152D	1.000
3:138173570:T:G	H85P	1.000
3:138173571:G:C	H85D	1.000
3:138173572:G:C	N84K	1.000
3:138173572:G:T	N84K	1.000
3:138173576:C:A	G83V	1.000
3:138174680:T:A	D39V	1.000
3:138161940:C:A	R528S	0.999
3:138161940:C:G	R528S	0.999
3:138161941:C:G	R528T	0.999
3:138161943:C:A	R527S	0.999
3:138161943:C:G	R527S	0.999
3:138163790:T:A	R261S	0.999
3:138163790:T:G	R261S	0.999
3:138163791:C:A	R261I	0.999
3:138163791:C:G	R261T	0.999
3:138163805:T:A	K256N	0.999
3:138163805:T:G	K256N	0.999
3:138163806:T:A	K256I	0.999
3:138163807:T:C	K256E	0.999
3:138163809:T:A	D255V	0.999
3:138163815:G:T	A253D	0.999

dbSNP variants (sampled 300 via entrez): RS1000010717 (3:138162853 A>C), RS1000043395 (3:138163191 CA>C), RS1000314495 (3:138167875 A>T), RS1000442683 (3:138174045 A>G,T), RS1000449621 (3:138160714 C>G), RS1000654771 (3:138166054 G>C), RS1000728648 (3:138175792 AAAAG>A), RS1000760227 (3:138176251 G>C), RS1000793243 (3:138173030 T>G), RS1000855787 (3:138174323 G>A), RS1001183093 (3:138172656 C>G), RS1001340926 (3:138166552 G>A), RS1001514107 (3:138173398 A>G), RS1001607502 (3:138173690 A>G), RS1001668605 (3:138169170 T>C)

Disease associations

OMIM: gene MIM:607024 | disease phenotypes: MIM:619441, MIM:620510

GenCC curated gene-disease

Disease	Classification	Inheritance
encephalitis, acute, infection (viral)-induced, susceptibility to, 11	Strong	Autosomal recessive
xerosis and growth failure with immune and pulmonary dysfunction syndrome	Moderate	Autosomal recessive

Mondo (2): encephalitis, acute, infection (viral)-induced, susceptibility to, 11 (MONDO:0030334), xerosis and growth failure with immune and pulmonary dysfunction syndrome (MONDO:0957786)

Orphanet (0):

HPO phenotypes

34 total (30 of 34 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000278	Retrognathia
HP:0000316	Hypertelorism
HP:0000343	Long philtrum
HP:0000494	Downslanted palpebral fissures
HP:0000586	Shallow orbits
HP:0000656	Ectropion
HP:0000958	Dry skin
HP:0001134	Anterior polar cataract
HP:0001250	Seizure
HP:0001298	Encephalopathy
HP:0001347	Hyperreflexia
HP:0001511	Intrauterine growth retardation
HP:0001631	Atrial septal defect
HP:0001712	Left ventricular hypertrophy
HP:0002181	Cerebral edema
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0004349	Reduced bone mineral density
HP:0005281	Hypoplastic nasal bridge
HP:0007479	Congenital nonbullous ichthyosiform erythroderma
HP:0008551	Microtia
HP:0008897	Postnatal growth retardation
HP:0010783	Erythema
HP:0010946	Dilatation of the renal pelvis
HP:0011342	Mild global developmental delay
HP:0011463	Childhood onset
HP:0011968	Feeding difficulties
HP:0012382	Left-to-right shunt
HP:0012472	Eclabion

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90002396_250	Mean reticulocyte volume	2.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
p-Chloromercuribenzoic Acid	decreases expression, affects cotreatment	2
FR900359	decreases phosphorylation	1
salinomycin	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases expression, increases abundance	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Formaldehyde	increases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Ribonucleotides	affects binding	1
Tetrachlorodibenzodioxin	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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