DDX55

Summary

DDX55 (DEAD-box helicase 55, HGNC:20085) is a protein-coding gene on chromosome 12q24.31, encoding ATP-dependent RNA helicase DDX55 (Q8NHQ9). Probable ATP-binding RNA helicase. It is a common-essential gene (DepMap: required in 99.2% of cancer cell lines).

This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12.

Source: NCBI Gene 57696 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 120 total
• Cancer dependency (DepMap): dependent in 99.2% of screened cell lines (common-essential)
• MANE Select transcript: NM_020936

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20085
Approved symbol	DDX55
Name	DEAD-box helicase 55
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1595
Ensembl gene	ENSG00000111364
Ensembl biotype	protein_coding
OMIM	620176
Entrez	57696

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 6 protein_coding, 6 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000238146, ENST00000354291, ENST00000421670, ENST00000536079, ENST00000538744, ENST00000539934, ENST00000540763, ENST00000541259, ENST00000542286, ENST00000543016, ENST00000544429, ENST00000544738, ENST00000545042, ENST00000912242, ENST00000912243, ENST00000946226

RefSeq mRNA: 1 — MANE Select: NM_020936 NM_020936

CCDS: CCDS9251

Canonical transcript exons

ENST00000238146 — 14 exons

Exon	Start	End
ENSE00000805083	123619432	123619724
ENSE00001298982	123619964	123620943
ENSE00003473971	123605931	123605981
ENSE00003503965	123618669	123618837
ENSE00003505675	123606073	123606159
ENSE00003507775	123616511	123616603
ENSE00003527759	123615185	123615316
ENSE00003539407	123607432	123607523
ENSE00003581770	123617758	123617872
ENSE00003589172	123607600	123607662
ENSE00003595456	123608680	123608829
ENSE00003629673	123613170	123613252
ENSE00003665805	123609939	123610128
ENSE00003669274	123602099	123602256

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 92.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.9093 / max 238.9639, expressed in 1803 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128588	18.3054	1802
128589	0.6039	375

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	92.84	gold quality
body of pancreas	UBERON:0001150	89.63	gold quality
right uterine tube	UBERON:0001302	89.46	gold quality
cerebellar hemisphere	UBERON:0002245	88.61	gold quality
cerebellar cortex	UBERON:0002129	88.51	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.27	gold quality
granulocyte	CL:0000094	87.97	gold quality
embryo	UBERON:0000922	87.90	gold quality
ganglionic eminence	UBERON:0004023	87.90	gold quality
calcaneal tendon	UBERON:0003701	87.67	gold quality
right ovary	UBERON:0002118	87.52	gold quality
skin of abdomen	UBERON:0001416	87.51	gold quality
right lobe of liver	UBERON:0001114	87.47	gold quality
left ovary	UBERON:0002119	87.31	gold quality
cerebellum	UBERON:0002037	87.22	gold quality
skin of leg	UBERON:0001511	87.08	gold quality
monocyte	CL:0000576	86.78	gold quality
tibial nerve	UBERON:0001323	86.68	gold quality
ventricular zone	UBERON:0003053	86.67	gold quality
body of uterus	UBERON:0009853	86.57	gold quality
leukocyte	CL:0000738	86.56	gold quality
endocervix	UBERON:0000458	86.17	gold quality
vermiform appendix	UBERON:0001154	86.16	gold quality
pancreas	UBERON:0001264	86.10	gold quality
left uterine tube	UBERON:0001303	86.06	gold quality
ectocervix	UBERON:0012249	86.01	gold quality
spleen	UBERON:0002106	85.97	gold quality
right lobe of thyroid gland	UBERON:0001119	85.82	gold quality
lymph node	UBERON:0000029	85.81	gold quality
body of stomach	UBERON:0001161	85.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting DDX55, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-8070	99.07	69.30	1303

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.2% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• The DExD box ATPase DDX55 is recruited to domain IV of the 28S ribosomal RNA by its C-terminal region. (PMID:33048000)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ddx55	ENSDARG00000009864
mus_musculus	Ddx55	ENSMUSG00000029389
rattus_norvegicus	Ddx55	ENSRNOG00000001043
drosophila_melanogaster	CG9630	FBGN0037561
caenorhabditis_elegans		WBGENE00013983

Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), DDX50 (ENSG00000107625), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), TDRD12 (ENSG00000173809), DDX23 (ENSG00000174243), DDX10 (ENSG00000178105), DDX28 (ENSG00000182810), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)

Protein

Protein identifiers

ATP-dependent RNA helicase DDX55 — Q8NHQ9 (reviewed: Q8NHQ9)

Alternative names: DEAD box protein 55

All UniProt accessions (5): E7EX41, Q8NHQ9, F5H2I2, F5H5U2, F5H735

UniProt curated annotations — full annotation on UniProt →

Function. Probable ATP-binding RNA helicase. Has ATPase activity and is involved in the maturation of precursor large subunit rRNAs.

Subunit / interactions. Interacts with 28S rRNA. Interacts with double-stranded RNA substrates in vitro; the interaction stimulates ATPase activity.

Subcellular location. Nucleus. Nucleoplasm.

Domain organisation. The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis. The C-terminal region is required for DDX55 nuclear import and association with pre-ribosomal complexes.

Similarity. Belongs to the DEAD box helicase family. DDX55/SPB4 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NHQ9-1	1	yes
Q8NHQ9-2	2

RefSeq proteins (1): NP_065987* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000629	RNA-helicase_DEAD-box_CS	Conserved_site
IPR001650	Helicase_C-like	Domain
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR014014	RNA_helicase_DEAD_Q_motif	Domain
IPR025313	SPB4-like_CTE	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00270, PF00271, PF13959

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (23 total): sequence conflict 5, sequence variant 4, domain 2, modified residue 2, region of interest 2, short sequence motif 2, compositionally biased region 2, chain 1, splice variant 1, mutagenesis site 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHQ9-F1	84.56	0.53

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 (1): 53–60

Post-translational modifications (2): 544, 594

Mutagenesis-validated functional residues (1):

Position	Phenotype
60	loss of atpase activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 118 (showing top): GOBP_RIBOSOME_BIOGENESIS, GGAANCGGAANY_UNKNOWN, GOBP_MATURATION_OF_LSU_RRNA, DODD_NASOPHARYNGEAL_CARCINOMA_UP, ELK1_01, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, GOCC_NUCLEOLUS, SCGGAAGY_ELK1_02, chr12q24, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_RRNA_BINDING, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_ISOMERASE_ACTIVITY

GO Biological Process (3): maturation of LSU-rRNA (GO:0000470), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254)

GO Molecular Function (11): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), large ribosomal subunit rRNA binding (GO:0070180), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787), rRNA binding (GO:0019843)

GO Cellular Component (5): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), membrane (GO:0016020), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ATP-dependent activity	2
binding	2
nuclear lumen	2
rRNA processing	1
ribosomal large subunit biogenesis	1
RNA processing	1
rRNA metabolic process	1
ribosome biogenesis	1
ribonucleoprotein complex biogenesis	1
nucleic acid binding	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
rRNA binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
catalytic activity	1
RNA binding	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

4133 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DDX55	ATP5F1A	P25705	518
DDX55	DHX15	O43143	502
DDX55	POLDIP3	Q9BY77	501
DDX55	PABPC4	Q13310	500
DDX55	PSME3IP1	Q9GZU8	494
DDX55	LARP4	Q71RC2	493
DDX55	TRIR	Q9BQ61	491
DDX55	ARMCX2	Q7L311	490
DDX55	DHX32	Q7L7V1	485
DDX55	DHX35	Q9H5Z1	477
DDX55	ATP6V1E2	Q96A05	470
DDX55	BAZ2A	Q9UIF9	466
DDX55	ATP6V0A2	Q9Y487	463
DDX55	DDX11	Q96FC9	461
DDX55	CHAF1A	Q13111	458
DDX55	BCAS4	Q8TDM0	458

IntAct

127 interactions, top by confidence:

A	B	Type	Score
NOL12	RRP8	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
DDX55	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560
DDX55	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	DDX55	psi-mi:“MI:0915”(physical association)	0.560
DDX55	PICK1	psi-mi:“MI:0915”(physical association)	0.560
H1-4	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
MRPS34	ZZEF1	psi-mi:“MI:0914”(association)	0.530
H1-4	RRP8	psi-mi:“MI:0914”(association)	0.530
KRR1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPLP0	GTPBP10	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
DDX55		psi-mi:“MI:0915”(physical association)	0.370
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
NOP56	C12orf43	psi-mi:“MI:0914”(association)	0.350
Eif3i	CBX4	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
MRPS34	CIBAR1	psi-mi:“MI:0914”(association)	0.350
FGF8	ANKHD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (202): DDX55 (Two-hybrid), KRTAP10-8 (Two-hybrid), DDX55 (Affinity Capture-MS), DDX55 (Co-fractionation), DDX55 (Co-fractionation), DDX55 (Co-fractionation), DDX55 (Co-fractionation), DDX55 (Co-fractionation), DDX55 (Co-fractionation), DDX56 (Co-fractionation), RPL23 (Co-fractionation), SETD4 (Co-fractionation), DDX55 (Affinity Capture-MS), DDX55 (Reconstituted Complex), DDX55 (Proximity Label-MS)

ESM2 similar proteins: A0A023PXF5, A6QSQ0, A6SBT4, A7EY76, F1RCY6, O13559, O18475, O48534, P18708, P40105, P40434, P40889, P43538, P46063, P46459, P46460, P46461, P54351, Q14527, Q1EB85, Q2TBP1, Q2U587, Q3B7N1, Q3E7Y4, Q5R410, Q5RF63, Q6AYJ1, Q6PCN7, Q7ZU90, Q86WJ1, Q8NHQ9, Q8R5F7, Q95216, Q96C10, Q99J87, Q9BYX4, Q9CXF7, Q9DGP9, Q9EPU0, Q9FF61

Diamond homologs: A1CIQ5, A1CTZ2, A1CW14, A1DNF9, A2Q9T6, A2QS00, A2RB17, A3GGE9, A3LNR6, A4R8B5, A4RGU2, A5DID7, A5DLF4, A5E2Z9, A5E3K3, A6ZPU3, A7ESL8, A7TJ71, P0CQ82, P0CQ83, P0CQ84, P0CQ85, P0CQ92, P0CQ93, P20448, P34580, Q03532, Q09903, Q09916, Q0CMM5, Q0CZS8, Q0D622, Q0DBS1, Q0DBU5, Q0DLB9, Q0JL73, Q0UK12, Q0UMB9, Q0UR48, Q13206

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 144 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
SARS-CoV-1 modulates host translation machinery	8	26.0×	1e-08
Eukaryotic Translation Initiation	7	22.7×	3e-07
Cap-dependent Translation Initiation	7	22.7×	3e-07
Peptide chain elongation	17	22.7×	6e-17
Viral mRNA Translation	17	22.7×	6e-17
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	17	22.5×	6e-17
Selenocysteine synthesis	17	21.5×	9e-17
Eukaryotic Translation Termination	17	21.5×	9e-17

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	18	26.9×	2e-18
ribosomal small subunit biogenesis	10	18.4×	3e-08
ribosomal large subunit biogenesis	5	17.9×	8e-04
translation	20	16.6×	1e-16
rRNA processing	12	13.7×	2e-08
mitochondrial translation	8	11.2×	7e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	89
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2333 predictions. Top by Δscore:

Variant	Effect	Δscore
12:123602253:GCAG:G	donor_loss	1.0000
12:123602254:CAGG:C	donor_loss	1.0000
12:123602255:AG:A	donor_loss	1.0000
12:123602258:T:G	donor_loss	1.0000
12:123605929:A:AG	acceptor_gain	1.0000
12:123605930:G:GG	acceptor_gain	1.0000
12:123605930:GTCC:G	acceptor_gain	1.0000
12:123607594:TTGTA:T	acceptor_loss	1.0000
12:123607595:T:A	acceptor_gain	1.0000
12:123607595:TGTA:T	acceptor_loss	1.0000
12:123607596:GTA:G	acceptor_loss	1.0000
12:123607597:TAGCC:T	acceptor_loss	1.0000
12:123607598:A:AG	acceptor_gain	1.0000
12:123607598:AGCC:A	acceptor_loss	1.0000
12:123607599:G:GT	acceptor_gain	1.0000
12:123607599:G:T	acceptor_loss	1.0000
12:123607599:GC:G	acceptor_gain	1.0000
12:123607599:GCC:G	acceptor_gain	1.0000
12:123607599:GCCA:G	acceptor_gain	1.0000
12:123607648:GTT:G	donor_gain	1.0000
12:123607649:TTT:T	donor_gain	1.0000
12:123607658:CAAGG:C	donor_gain	1.0000
12:123607660:AGG:A	donor_gain	1.0000
12:123607660:AGGG:A	donor_loss	1.0000
12:123607661:GG:G	donor_gain	1.0000
12:123607661:GGG:G	donor_gain	1.0000
12:123607662:GG:G	donor_gain	1.0000
12:123607663:G:GG	donor_gain	1.0000
12:123607663:GTGA:G	donor_loss	1.0000
12:123607664:T:A	donor_loss	1.0000

AlphaMissense

3979 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:123608819:T:C	F181L	1.000
12:123608821:T:A	F181L	1.000
12:123608821:T:G	F181L	1.000
12:123616526:C:G	C324W	1.000
12:123617780:C:A	R358S	1.000
12:123605979:G:C	A53P	0.999
12:123606086:G:A	G58D	0.999
12:123606089:A:T	K59I	0.999
12:123607460:G:C	R92P	0.999
12:123607466:T:C	L94P	0.999
12:123607617:G:A	G119E	0.999
12:123608706:G:A	G143D	0.999
12:123608708:C:A	R144S	0.999
12:123608709:G:C	R144P	0.999
12:123608793:A:C	E172A	0.999
12:123608793:A:T	E172V	0.999
12:123608794:G:C	E172D	0.999
12:123608794:G:T	E172D	0.999
12:123608798:G:C	D174H	0.999
12:123608799:A:C	D174A	0.999
12:123608799:A:T	D174V	0.999
12:123608805:T:C	L176P	0.999
12:123609975:G:C	R196S	0.999
12:123609975:G:T	R196S	0.999
12:123609986:T:C	L200P	0.999
12:123609991:T:C	S202P	0.999
12:123609995:C:A	A203D	0.999
12:123610022:T:C	L212P	0.999
12:123610037:T:C	L217P	0.999
12:123616524:T:C	C324R	0.999

dbSNP variants (sampled 300 via entrez): RS1000045355 (12:123601044 C>CA), RS1000172969 (12:123600257 G>A), RS1000199663 (12:123610898 T>G), RS1000208823 (12:123611837 G>C), RS1000219779 (12:123604385 T>A,C), RS1000365217 (12:123608020 A>G,T), RS1000700624 (12:123616964 C>T), RS1000709488 (12:123603806 G>GT), RS1001208876 (12:123612784 C>A,T), RS1001401106 (12:123615843 A>G), RS1001504149 (12:123616376 A>G), RS1001724182 (12:123618657 G>A,T), RS1002012365 (12:123602087 C>T), RS1002364943 (12:123615382 C>T), RS1002477794 (12:123615720 C>G)

Disease associations

OMIM: gene MIM:620176 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001875_4	Pubertal anthropometrics	3.000000e-06
GCST005956_10	Waist-to-hip ratio adjusted for BMI	6.000000e-08
GCST005958_11	Waist-to-hip ratio adjusted for BMI (age >50)	4.000000e-07
GCST005962_22	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases oxidation, decreases expression, affects cotreatment, increases abundance	2
Arsenic	decreases methylation, increases abundance, affects cotreatment, increases expression	2
FR900359	increases phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
4-phenylbutyric acid	decreases expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Acrolein	increases oxidation, increases abundance, affects cotreatment	1
Atrazine	decreases expression	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Diuron	decreases expression	1
Estradiol	increases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Ribonucleotides	affects binding	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases expression	1
Metals, Heavy	decreases methylation, increases abundance	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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