DDX31

Summary

DDX31 (DEAD-box helicase 31, HGNC:16715) is a protein-coding gene on chromosome 9q34.13, encoding ATP-dependent DNA helicase DDX31 (Q9H8H2). May have DNA helicase activity and RNA helicase activity.

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms.

Source: NCBI Gene 64794 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 170 total
• MANE Select transcript: NM_022779

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16715
Approved symbol	DDX31
Name	DEAD-box helicase 31
Location	9q34.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13633, FLJ23349, FLJ14578, PPP1R25
Ensembl gene	ENSG00000125485
Ensembl biotype	protein_coding
OMIM	616533
Entrez	64794

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 retained_intron

ENST00000310532, ENST00000372155, ENST00000372159, ENST00000480876, ENST00000482620, ENST00000893390, ENST00000893391, ENST00000893392, ENST00000893393, ENST00000919392, ENST00000919393

RefSeq mRNA: 7 — MANE Select: NM_022779 NM_001322340, NM_001322341, NM_001322342, NM_001322343, NM_001322344, NM_022779, NM_138620

CCDS: CCDS6951, CCDS6952, CCDS83433

Canonical transcript exons

ENST00000372159 — 20 exons

Exon	Start	End
ENSE00001593273	132630264	132630403
ENSE00001598735	132648432	132648551
ENSE00001600526	132650234	132650298
ENSE00001616213	132645895	132646071
ENSE00001623000	132632041	132632091
ENSE00001643006	132612087	132612255
ENSE00001658188	132618330	132618441
ENSE00001690003	132652448	132652492
ENSE00001699959	132646823	132647058
ENSE00001701610	132625664	132625745
ENSE00001713948	132651075	132651116
ENSE00001738338	132648189	132648295
ENSE00001775629	132642004	132642063
ENSE00002323582	132669860	132669983
ENSE00003563680	132662261	132662336
ENSE00003581690	132662439	132662695
ENSE00003673933	132592997	132595112
ENSE00003741421	132659710	132659780
ENSE00003750404	132661208	132661251
ENSE00003751220	132658671	132658735

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 86.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.3853 / max 88.6416, expressed in 1798 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102903	7.9836	1731
102902	4.4803	1604
102904	3.9104	1579
102901	0.0110	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.27	gold quality
right lobe of thyroid gland	UBERON:0001119	86.01	gold quality
left lobe of thyroid gland	UBERON:0001120	85.34	gold quality
thyroid gland	UBERON:0002046	85.10	gold quality
triceps brachii	UBERON:0001509	84.21	gold quality
cerebellar hemisphere	UBERON:0002245	83.83	gold quality
cerebellar cortex	UBERON:0002129	83.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.50	gold quality
skin of leg	UBERON:0001511	83.01	gold quality
islet of Langerhans	UBERON:0000006	82.62	gold quality
cerebellum	UBERON:0002037	82.30	gold quality
skin of abdomen	UBERON:0001416	82.29	gold quality
nerve	UBERON:0001021	82.22	gold quality
tibial nerve	UBERON:0001323	82.22	gold quality
lower esophagus mucosa	UBERON:0035834	81.74	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.42	gold quality
gluteal muscle	UBERON:0002000	81.31	gold quality
sural nerve	UBERON:0015488	80.92	gold quality
zone of skin	UBERON:0000014	80.42	gold quality
right lobe of liver	UBERON:0001114	80.03	gold quality
body of pancreas	UBERON:0001150	79.92	gold quality
pancreas	UBERON:0001264	79.80	gold quality
right ovary	UBERON:0002118	79.77	gold quality
gastrocnemius	UBERON:0001388	79.76	gold quality
left ovary	UBERON:0002119	79.76	gold quality
granulocyte	CL:0000094	79.11	gold quality
esophagus mucosa	UBERON:0002469	79.05	gold quality
mucosa of transverse colon	UBERON:0004991	79.01	gold quality
metanephros cortex	UBERON:0010533	78.97	gold quality
parotid gland	UBERON:0001831	78.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-36552	yes	86.05
E-ANND-3	no	5.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting DDX31, 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-3148	99.97	75.06	6478
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-3122	99.50	66.33	821
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-3977	98.00	68.17	1500
HSA-MIR-1302	97.92	67.27	844
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-4786-5P	97.45	67.89	924
HSA-MIR-125A-3P	97.04	66.92	902

Literature-anchored findings (GeneRIF, showing 2)

• Findings define a mechanism through which control of the DDX31-NPM1 complex is likely to play critical roles in renal carcinogenesis. (PMID:23019224)
• DDX31 cooperates with mutp53 and EGFR to promote progression of muscle invasive bladder cancer. (PMID:29440146)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ddx31	ENSDARG00000035507
mus_musculus	Ddx31	ENSMUSG00000026806
rattus_norvegicus	Ddx31	ENSRNOG00000013040
drosophila_melanogaster	CG8611	FBGN0027602

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), DDX55 (ENSG00000111364), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), 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 DNA helicase DDX31 — Q9H8H2 (reviewed: Q9H8H2)

Alternative names: DEAD box protein 31, Helicain, Probable ATP-dependent RNA helicase DDX31

All UniProt accessions (2): Q9H8H2, A0AAK2PNZ4

UniProt curated annotations — full annotation on UniProt →

Function. May have DNA helicase activity and RNA helicase activity. Probably have ssDNA and RNA dependent ATPase activity. Plays a role in ribosome biogenesis and TP53/p53 regulation through its interaction with NPM1.

Subunit / interactions. Interacts with NPM1; this interaction prevents interaction between NPM1 and HDM2.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Weakly or undetectably expressed in normal organs. Up-regulated in renal cell carcinoma.

Similarity. Belongs to the DEAD box helicase family. DDX31/DBP7 subfamily.

Isoforms (6)

UniProt ID	Names	Canonical?
Q9H8H2-1	1, Helicain B	yes
Q9H8H2-2	2, Helicain C
Q9H8H2-3	3, Helicain A
Q9H8H2-4	4
Q9H8H2-5	5
Q9H8H2-6	6

RefSeq proteins (7): NP_001309269, NP_001309270, NP_001309271, NP_001309272, NP_001309273, NP_073616, NP_619526 (=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 (25 total): splice variant 6, sequence variant 4, sequence conflict 4, region of interest 3, domain 2, short sequence motif 2, chain 1, modified residue 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H8H2-F1	67.63	0.33

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): 275–282

Post-translational modifications (1): 828

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 135 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_RIBOSOME_BIOGENESIS, GGGTGGRR_PAX4_03, EFC_Q6, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, BENPORATH_OCT4_TARGETS, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_DN, GOCC_NUCLEOLUS, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, LIU_LIVER_CANCER, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_ISOMERASE_ACTIVITY, CHEN_METABOLIC_SYNDROM_NETWORK

GO Biological Process (1): ribosome biogenesis (GO:0042254)

GO Molecular Function (10): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787), isomerase activity (GO:0016853)

GO Cellular Component (3): nucleus (GO:0005634), nucleolus (GO:0005730), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP-dependent activity	2
binding	2
catalytic activity	2
intracellular membrane-bounded organelle	2
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
nucleoside phosphate binding	1
heterocyclic compound binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
endomembrane system	1

Protein interactions and networks

STRING

3682 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DDX31	ZBED8L	Q8TCP9	608
DDX31	NCKAP5L	Q9HCH0	479
DDX31	DNHD1	Q96M86	447
DDX31	GTF3C5	Q9Y5Q8	429
DDX31	ZFP82	Q8N141	419
DDX31	HELB	Q8NG08	404
DDX31	TSG101	Q99816	353
DDX31	POLD3	Q15054	353
DDX31	XPO1	O14980	353
DDX31	RIGI	O95786	353
DDX31	EIF4E	P06730	353
DDX31	SUOX	P51687	353
DDX31	MAVS	Q7Z434	353
DDX31	ZNF654	Q8IZM8	353
DDX31	ITPA	Q9BY32	353

IntAct

216 interactions, top by confidence:

A	B	Type	Score
MED29	MED19	psi-mi:“MI:0914”(association)	0.890
MED19	MED19	psi-mi:“MI:0914”(association)	0.730
SART3	PRPF4	psi-mi:“MI:0914”(association)	0.730
RIOK1	PRMT5	psi-mi:“MI:0914”(association)	0.710
RPL14	RRP8	psi-mi:“MI:0914”(association)	0.640
NOP53	RRP8	psi-mi:“MI:0914”(association)	0.640
NOL12	RRP8	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
MECP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
RBM34	RRP8	psi-mi:“MI:0914”(association)	0.640
NPM1	NVL	psi-mi:“MI:0914”(association)	0.610
DDX31	SRP14	psi-mi:“MI:0915”(physical association)	0.560
PLEKHO1	UBA6	psi-mi:“MI:0914”(association)	0.530
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MAGEB10	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ZNF512	ZNF724	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
DDX31	IGLL5	psi-mi:“MI:0914”(association)	0.530
RRP8	NVL	psi-mi:“MI:0914”(association)	0.530
H1-4	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
ILF2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ZNF2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
ZNF71	NVL	psi-mi:“MI:0914”(association)	0.530
KNOP1	DHX15	psi-mi:“MI:0914”(association)	0.530
RPL30	RRP8	psi-mi:“MI:0914”(association)	0.530
RPL18A	RRP8	psi-mi:“MI:0914”(association)	0.530

BioGRID (384): DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS), DKC1 (Co-fractionation), NOC2L (Co-fractionation), DDX31 (Affinity Capture-RNA), DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS), DDX31 (Affinity Capture-MS)

ESM2 similar proteins: A0JPN4, A2AKB4, A2APT9, A4Q9E8, A4Q9F6, A6NNM8, A6QQJ8, A8CVX7, B2GUW6, D2H8V8, O88866, O94761, P48778, Q14154, Q2YDK1, Q3TYG6, Q49AM3, Q4KLY6, Q4QQS0, Q4R747, Q5D1E7, Q5D1E8, Q5NC05, Q5RA67, Q5REE2, Q5SXM2, Q60953, Q6ZQM0, Q6ZUX3, Q6ZW76, Q75NR7, Q7TSG2, Q8BIY3, Q8BP86, Q8C7W7, Q8IX06, Q8N841, Q8R2S1, Q8VCU0, Q8WTP8

Diamond homologs: A1CB55, A1CIQ5, A1CR32, A1CTZ2, A1CW14, A1DE84, A1DNF9, A2Q9T6, A2QS00, A2RA55, A2RB17, A3LNR6, A3LWH3, A4QX49, A4R8B5, A4RGD1, A4RGU2, A5DAR2, A5DID7, A5DQF1, A5E2Z9, A6QRQ7, A6RSH5, A6ZZY8, A7F8V8, A7TNT1, O60173, P0CQ82, P0CQ83, P0CQ84, P0CQ85, P0CQ94, P0CQ95, P0CR00, P0CR01, P36120, Q03532, Q09916, Q0CF43, Q0CMM5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 187 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
Formation of Senescence-Associated Heterochromatin Foci (SAHF)	5	28.2×	1e-05
Peptide chain elongation	21	22.4×	4e-21
Viral mRNA Translation	21	22.4×	4e-21
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	21	22.1×	4e-21
Selenocysteine synthesis	21	21.2×	7e-21
Eukaryotic Translation Termination	21	21.2×	7e-21
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	21	20.8×	9e-21
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	21	20.8×	9e-21

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of DNA recombination	7	46.8×	8e-09
chromosome condensation	7	35.1×	8e-08
cytoplasmic translation	22	24.2×	7e-22
ribosomal small subunit biogenesis	14	19.0×	3e-12
ribosomal large subunit biogenesis	6	15.8×	1e-04
rRNA processing	18	15.2×	4e-14
translation	23	14.1×	2e-17
regulation of alternative mRNA splicing, via spliceosome	8	11.6×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	134
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4068 predictions. Top by Δscore:

Variant	Effect	Δscore
9:132595122:A:T	acceptor_gain	1.0000
9:132595128:A:T	acceptor_gain	1.0000
9:132612081:TCTTA:T	donor_loss	1.0000
9:132612082:CTTAC:C	donor_loss	1.0000
9:132612083:TTA:T	donor_loss	1.0000
9:132612084:TAC:T	donor_loss	1.0000
9:132612085:A:AC	donor_gain	1.0000
9:132612085:A:C	donor_loss	1.0000
9:132612086:C:CC	donor_gain	1.0000
9:132612086:C:G	donor_loss	1.0000
9:132612251:CAGAG:C	acceptor_gain	1.0000
9:132612252:AGAG:A	acceptor_gain	1.0000
9:132612253:GAG:G	acceptor_gain	1.0000
9:132612254:AG:A	acceptor_gain	1.0000
9:132612256:C:CC	acceptor_gain	1.0000
9:132625282:A:AC	donor_gain	1.0000
9:132625282:ATTT:A	donor_gain	1.0000
9:132630262:A:AC	donor_gain	1.0000
9:132630263:C:CC	donor_gain	1.0000
9:132643830:CG:C	acceptor_gain	1.0000
9:132643838:C:CT	acceptor_gain	1.0000
9:132643845:A:T	acceptor_gain	1.0000
9:132645893:ACCT:A	donor_gain	1.0000
9:132645894:CCTC:C	donor_gain	1.0000
9:132645896:T:TA	donor_gain	1.0000
9:132646067:TCAAA:T	acceptor_gain	1.0000
9:132646068:CAAA:C	acceptor_gain	1.0000
9:132646068:CAAAC:C	acceptor_gain	1.0000
9:132646069:AAA:A	acceptor_gain	1.0000
9:132646070:AA:A	acceptor_gain	1.0000

AlphaMissense

5530 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:132630326:G:C	S628R	0.996
9:132630326:G:T	S628R	0.996
9:132630328:T:G	S628R	0.996
9:132630356:T:A	R618S	0.996
9:132630356:T:G	R618S	0.996
9:132630357:C:G	R618T	0.995
9:132648546:C:G	R354P	0.995
9:132651102:G:C	S321R	0.995
9:132651102:G:T	S321R	0.995
9:132651104:T:G	S321R	0.995
9:132658732:T:A	K281I	0.995
9:132630366:C:G	R615P	0.994
9:132642037:A:C	F574L	0.993
9:132642037:A:T	F574L	0.993
9:132642039:A:G	F574L	0.993
9:132648257:A:T	I405K	0.993
9:132651115:A:G	L317P	0.993
9:132658705:A:T	V290D	0.993
9:132648441:T:A	E389V	0.992
9:132648507:A:G	L367P	0.992
9:132648528:A:G	L360P	0.992
9:132648549:A:G	L353P	0.992
9:132652492:G:T	R302S	0.991
9:132648510:C:G	R366P	0.990
9:132648540:C:T	G356E	0.990
9:132648547:G:T	R354S	0.990
9:132648511:G:T	R366S	0.989
9:132650242:T:A	E349D	0.989
9:132650242:T:G	E349D	0.989
9:132651082:A:G	L328P	0.989

dbSNP variants (sampled 300 via entrez): RS1000002535 (9:132606481 C>T), RS1000065428 (9:132621661 T>C), RS1000102549 (9:132643381 A>T), RS1000103493 (9:132615278 T>C,G), RS1000135460 (9:132610241 G>A), RS1000162826 (9:132638708 G>C), RS1000188293 (9:132599904 G>A), RS1000202320 (9:132666615 G>A,C), RS1000214715 (9:132660561 C>T), RS1000218497 (9:132644959 A>G), RS1000308230 (9:132660826 A>C), RS1000312115 (9:132621427 C>G,T), RS1000422064 (9:132617378 A>G), RS1000457460 (9:132633358 A>G), RS1000470680 (9:132655004 G>A,T)

Disease associations

OMIM: gene MIM:616533 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
Arsenic	affects methylation, increases abundance, increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
Cadmium Chloride	decreases expression, increases expression	2
GSK-J4	increases expression	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
manganese chloride	increases abundance, increases expression	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Fulvestrant	increases methylation	1
Amiodarone	increases expression	1
Doxorubicin	increases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Estradiol	increases expression	1
Manganese	increases abundance, increases expression	1
Ribonucleotides	affects binding	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases expression	1
Gold Compounds	increases expression	1
Antirheumatic Agents	decreases expression	1
Magnetite Nanoparticles	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SK64	HAP1 DDX31 (-) 1	Cancer cell line	Male
CVCL_SK65	HAP1 DDX31 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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