DDX19B

Summary

DDX19B (DEAD-box helicase 19B, HGNC:2742) is a protein-coding gene on chromosome 16q22.1, encoding ATP-dependent RNA helicase DDX19B (Q9UMR2). ATP-dependent RNA helicase involved in mRNA export from the nucleus.

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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 11269 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_007242

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2742
Approved symbol	DDX19B
Name	DEAD-box helicase 19B
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	DBP5
Ensembl gene	ENSG00000157349
Ensembl biotype	protein_coding
OMIM	605812
Entrez	11269

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 16 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000288071, ENST00000355992, ENST00000393657, ENST00000451014, ENST00000562519, ENST00000562912, ENST00000563206, ENST00000563392, ENST00000566216, ENST00000568008, ENST00000568408, ENST00000568460, ENST00000568625, ENST00000569099, ENST00000569224, ENST00000570055, ENST00000872520, ENST00000872521, ENST00000872522, ENST00000872523, ENST00000912196, ENST00000912197, ENST00000912198, ENST00000951225

RefSeq mRNA: 8 — MANE Select: NM_007242 NM_001014449, NM_001014451, NM_001257172, NM_001257173, NM_001257174, NM_001257175, NM_001363938, NM_007242

CCDS: CCDS10888, CCDS32475, CCDS42187, CCDS58478, CCDS86540

Canonical transcript exons

ENST00000288071 — 12 exons

Exon	Start	End
ENSE00001955602	70333521	70335305
ENSE00002614269	70299186	70299354
ENSE00003471344	70329831	70330068
ENSE00003490278	70332968	70333159
ENSE00003499660	70312609	70312657
ENSE00003507355	70331722	70331884
ENSE00003535008	70329292	70329469
ENSE00003556329	70324585	70324687
ENSE00003557344	70325574	70325688
ENSE00003589407	70315969	70316104
ENSE00003605430	70314902	70314955
ENSE00003641343	70317496	70317588

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 93.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.2684 / max 220.5806, expressed in 1816 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154870	27.0528	1816
154869	0.2156	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	93.15	gold quality
right testis	UBERON:0004534	92.74	gold quality
calcaneal tendon	UBERON:0003701	91.86	gold quality
skin of leg	UBERON:0001511	91.30	gold quality
ganglionic eminence	UBERON:0004023	91.13	gold quality
mucosa of stomach	UBERON:0001199	90.81	gold quality
granulocyte	CL:0000094	90.67	gold quality
bone marrow cell	CL:0002092	90.46	gold quality
testis	UBERON:0000473	90.35	gold quality
ventricular zone	UBERON:0003053	90.31	gold quality
gastrocnemius	UBERON:0001388	90.06	gold quality
smooth muscle tissue	UBERON:0001135	89.98	gold quality
muscle of leg	UBERON:0001383	89.78	gold quality
rectum	UBERON:0001052	89.59	gold quality
body of stomach	UBERON:0001161	89.51	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.34	gold quality
skin of abdomen	UBERON:0001416	89.32	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.32	gold quality
cortical plate	UBERON:0005343	89.27	gold quality
tibial artery	UBERON:0007610	89.25	gold quality
popliteal artery	UBERON:0002250	89.24	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.99	gold quality
descending thoracic aorta	UBERON:0002345	88.98	gold quality
lower esophagus	UBERON:0013473	88.96	gold quality
islet of Langerhans	UBERON:0000006	88.89	gold quality
right lobe of liver	UBERON:0001114	88.82	gold quality
left adrenal gland	UBERON:0001234	88.80	gold quality
right adrenal gland	UBERON:0001233	88.72	gold quality
leukocyte	CL:0000738	88.47	gold quality
left adrenal gland cortex	UBERON:0035825	88.45	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-112	no	2.87
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting DDX19B, 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-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4803	99.98	71.99	3117
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-141-5P	99.57	67.86	897
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-5689	99.50	71.26	1154

Literature-anchored findings (GeneRIF, showing 12)

• identification and characterization of a gene coding a novel isoform (PMID:12219940)
• Using in vitro assays, the authors demonstrate that NUP214 decreases both the RNA binding and ATPase activities of DBP5. (PMID:19219046)
• Results describe the crystal structures of human DDX19, a DEXD/H-box protein, in its open and closed cleft conformations. (PMID:19244245)
• Dbp5, Gle1-IP6 and Nup159: a working model for mRNP export. (PMID:22064466)
• Ddx19 is an RNA export factor required for nuclear import of the SRF coactivator MKL1 (PMID:25585691)
• DDX19 interacts with pre-termination complexes (preTCs) in a nucleotide-dependent manner. Furthermore, DDX19 increases the efficiency of termination complex (TC) formation and the peptide release in the presence of eukaryotic release factors. DDX19 also stabilizes ribosome complexes with translation elongation factors eEF1 and eEF2. (PMID:28180304)
• These results imply that DBP5, GLE1 and IP6 have a conserved and individual function in the cytoplasmic mRNA expression. Variations in phenotype are due to the difference in each function of DBP5, GLE1 and IPPK in intracellular mRNA metabolism. (PMID:29746542)
• Results found that Nup159 did not accelerate ADP release, while Gle1 actually slowed it independently of Mg(2+) which is not consistent with Nup159 acting as a nucleotide exchange factor to promote ADP release and Dbp5 ATPase cycling. Instead, in the presence of Nup159, the interaction between Gle1 and ADP-bound Dbp5 was found more reduced, suggesting that Nup159 alters the Dbp5-Gle1 to aid Gle1 release from Dbp5. (PMID:29782832)
• Dbp5/DDX19 between Translational Readthrough and Nonsense Mediated Decay. (PMID:32041247)
• Emerging molecular functions and novel roles for the DEAD-box protein Dbp5/DDX19 in gene expression. (PMID:33205304)
• Translation mediated by the nuclear cap-binding complex is confined to the perinuclear region via a CTIF-DDX19B interaction. (PMID:34232997)
• SUMOylation modulates the function of DDX19 in mRNA export. (PMID:35080244)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ddx19b	ENSDARG00000005699
danio_rerio	ddx19a	ENSDARG00000044325
mus_musculus	Ddx19b	ENSMUSG00000033658
rattus_norvegicus	Ddx19b	ENSRNOG00000064019

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), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), 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 DDX19B — Q9UMR2 (reviewed: Q9UMR2)

Alternative names: DEAD box RNA helicase DEAD5, DEAD box protein 19B

All UniProt accessions (8): Q9UMR2, A0A0U4B4U6, H3BMQ5, H3BMV7, H3BPV3, H3BQK0, H3BTX1, H3BUH0

UniProt curated annotations — full annotation on UniProt →

Function. ATP-dependent RNA helicase involved in mRNA export from the nucleus. Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins.

Subunit / interactions. Associates with the nuclear pore complex via interaction with NUP214. Interacts with NUP214 or RNA in a mutually exclusive manner.

Subcellular location. Cytoplasm. Nucleus. Nucleoplasm.

Domain organisation. The N-terminal extension helix acts as an autoinhibitory domain, preventing ATP hydrolysis, unless the N-terminus of the protein is displaced by RNA binding, allowing cleft closure to bring key side chains into position for catalysis.

Similarity. Belongs to the DEAD box helicase family. DDX19/DBP5 subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9UMR2-1	1	yes
Q9UMR2-2	2
Q9UMR2-3	3
Q9UMR2-4	4

RefSeq proteins (8): NP_001014449, NP_001014451, NP_001244101, NP_001244102, NP_001244103, NP_001244104, NP_001350867, NP_009173* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001650	Helicase_C-like	Domain
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR014014	RNA_helicase_DEAD_Q_motif	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00270, PF00271

Enzyme classification (BRENDA):

• EC 3.6.4.13 — RNA helicase (BRENDA: 3 organisms, 3 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (73 total): helix 22, strand 20, mutagenesis site 5, binding site 4, sequence conflict 4, region of interest 4, splice variant 3, turn 3, domain 2, short sequence motif 2, initiator methionine 1, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
3FHT	X-RAY DIFFRACTION	2.2
6B4K	X-RAY DIFFRACTION	2.2
3FMO	X-RAY DIFFRACTION	2.51
3EWS	X-RAY DIFFRACTION	2.7
3G0H	X-RAY DIFFRACTION	2.7
3FHC	X-RAY DIFFRACTION	2.8
3FMP	X-RAY DIFFRACTION	3.19
6B4J	X-RAY DIFFRACTION	3.4
6B4I	X-RAY DIFFRACTION	3.62

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UMR2-F1	81.79	0.49

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 (4): 119; 138–145; 429; 432

Post-translational modifications (1): 2

Mutagenesis-validated functional residues (5):

Position	Phenotype
223	impairs interaction with nup214 and rna.
243	loss of activity.
258	impairs interaction with nup214.
259	impairs interaction with nup214.
262	impairs interaction with nup214.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 151 (showing top): MORF_DNMT1, ACTACCT_MIR196A_MIR196B, MORF_ESPL1, chr16q22, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MORF_UBE2N, MORF_HDAC2, GOBP_NUCLEAR_TRANSPORT, MORF_BUB3, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, MORF_RFC4, MORF_PRKDC, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, GOBP_NUCLEAR_EXPORT

GO Biological Process (2): mRNA export from nucleus (GO:0006406), poly(A)+ mRNA export from nucleus (GO:0016973)

GO Molecular Function (10): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), mRNA binding (GO:0003729), helicase activity (GO:0004386), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (8): nucleus (GO:0005634), nuclear envelope (GO:0005635), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytoplasmic stress granule (GO:0010494), membrane (GO:0016020), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ATP-dependent activity	2
binding	2
RNA export from nucleus	1
gene expression	1
mRNA transport	1
mRNA export from nucleus	1
nucleic acid binding	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
RNA binding	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
nucleus	1
endomembrane system	1
organelle envelope	1
nuclear envelope	1
nuclear protein-containing complex	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasmic ribonucleoprotein granule	1
extracellular vesicle	1

Protein interactions and networks

STRING

1056 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DDX19B	DBP	Q10586	431
DDX19B	TEF	Q10587	378
DDX19B	RNF19A	Q9NV58	353
DDX19B	TUBG1	P23258	352
DDX19B	TUBGCP3	Q96CW5	350
DDX19B	BMP8A	Q7Z5Y6	348
DDX19B	BMP8B	P34820	348
DDX19B	GLE1	Q53GS7	315
DDX19B	COTL1	Q14019	309
DDX19B	RAE1	P78406	296
DDX19B	NUP214	P35658	293
DDX19B	HLF	Q16534	289
DDX19B	CFHR5	Q9BXR6	272
DDX19B	FGFBP2	Q9BYJ0	259
DDX19B	NANOS1	Q8WY41	248
DDX19B	LSAMP	Q13449	248

IntAct

178 interactions, top by confidence:

A	B	Type	Score
CCM2	KRIT1	psi-mi:“MI:0914”(association)	0.960
MIF4GD	DDX19B	psi-mi:“MI:0915”(physical association)	0.870
DDX19B	MIF4GD	psi-mi:“MI:0915”(physical association)	0.870
DDX19B	MIF4GD	psi-mi:“MI:0407”(direct interaction)	0.870
DDX19B	MIF4GD	psi-mi:“MI:0914”(association)	0.870
ARL4C	RGS12	psi-mi:“MI:0914”(association)	0.640
MIF4GD	DDX19B	psi-mi:“MI:0915”(physical association)	0.600
CTIF	DDX19B	psi-mi:“MI:0915”(physical association)	0.560
DDX19B	TGFBR2	psi-mi:“MI:0915”(physical association)	0.560
CBX5	DDX19B	psi-mi:“MI:0915”(physical association)	0.560
PRSS22	PPM1A	psi-mi:“MI:0914”(association)	0.560
UPK3B	AP1G2	psi-mi:“MI:0914”(association)	0.560
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
CD79A	METTL15	psi-mi:“MI:0914”(association)	0.530
LRP1	NME4	psi-mi:“MI:0914”(association)	0.530
INSYN2A	CHUK	psi-mi:“MI:0914”(association)	0.530

BioGRID (333): MIF4GD (Two-hybrid), DDX19B (Affinity Capture-MS), DDX19B (Affinity Capture-MS), DDX19B (Affinity Capture-MS), IGKC (Affinity Capture-MS), TF (Affinity Capture-MS), PLEC (Affinity Capture-MS), EPPK1 (Affinity Capture-MS), EVPL (Affinity Capture-MS), C3 (Affinity Capture-MS), ANXA1 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), TRIM29 (Affinity Capture-MS), CALML5 (Affinity Capture-MS), GSN (Affinity Capture-MS)

ESM2 similar proteins: A1CFV3, A1CYG5, A3GH91, A3LNR6, A4R8B5, A4RIF1, A5DBI5, A5DID7, A5DZX2, A6RC50, A6SBT4, A6ZNQ1, A7EY76, O61305, P0CQ84, P0CQ86, P0CQ87, P20449, Q03532, Q09747, Q0CDT1, Q0UCB9, Q0UR48, Q1EB85, Q2HGF7, Q2U8K6, Q2UUN6, Q3ZBV2, Q4HY71, Q4IEK8, Q4P7Z8, Q4WIN6, Q5AJD0, Q5AK59, Q5AVM1, Q5BBY1, Q61655, Q6BH93, Q6BRE4, Q6C3X7

Diamond homologs: A1CFV3, A1CJT5, A1CYG5, A1D7N3, A2QEN5, A2QUY7, A3GFI4, A3GH91, A4HRK0, A4QVP2, A4RIF1, A5A6N4, A5DB98, A5DBI5, A5DVM3, A5DZX2, A6RC50, A6RJ45, A6SBT4, A6ZNQ1, A6ZQJ1, A7EGL7, A7EY76, O02494, O61305, O62591, P0CQ70, P0CQ71, P0CQ86, P0CQ87, P10081, P10630, P20449, P27639, P29562, P35683, P41376, P41378, P41379, P41381

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2289 predictions. Top by Δscore:

Variant	Effect	Δscore
16:70299337:G:GT	donor_gain	1.0000
16:70299351:GTCG:G	donor_gain	1.0000
16:70299353:CGG:C	donor_loss	1.0000
16:70299355:G:GG	donor_gain	1.0000
16:70299355:GT:G	donor_loss	1.0000
16:70299355:GTGA:G	donor_loss	1.0000
16:70299356:T:A	donor_loss	1.0000
16:70312607:A:AG	acceptor_gain	1.0000
16:70312608:G:GA	acceptor_gain	1.0000
16:70312608:GTT:G	acceptor_gain	1.0000
16:70312608:GTTGA:G	acceptor_gain	1.0000
16:70315963:T:TA	acceptor_gain	1.0000
16:70315967:A:AG	acceptor_gain	1.0000
16:70315967:AGAG:A	acceptor_gain	1.0000
16:70315968:G:GA	acceptor_gain	1.0000
16:70315968:G:GG	acceptor_gain	1.0000
16:70315968:GA:G	acceptor_gain	1.0000
16:70315968:GAGG:G	acceptor_gain	1.0000
16:70316080:TG:T	donor_gain	1.0000
16:70316101:GGCT:G	donor_gain	1.0000
16:70316102:GCT:G	donor_gain	1.0000
16:70316102:GCTG:G	donor_gain	1.0000
16:70316105:G:GG	donor_gain	1.0000
16:70316109:G:GG	donor_gain	1.0000
16:70317584:GAGCC:G	donor_gain	1.0000
16:70317586:GCC:G	donor_gain	1.0000
16:70317589:G:GG	donor_gain	1.0000
16:70325689:G:GG	donor_gain	1.0000
16:70330064:GCCAT:G	donor_gain	1.0000
16:70330065:CCAT:C	donor_gain	1.0000

AlphaMissense

3184 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:70317552:T:A	I118K	1.000
16:70317556:A:C	Q119H	1.000
16:70317556:A:T	Q119H	1.000
16:70324602:C:A	A136D	1.000
16:70324607:T:C	S138P	1.000
16:70324616:G:C	G141R	1.000
16:70324617:G:A	G141D	1.000
16:70324622:G:C	G143R	1.000
16:70324622:G:T	G143C	1.000
16:70324623:G:A	G143D	1.000
16:70324623:G:T	G143V	1.000
16:70324625:A:C	K144Q	1.000
16:70324626:A:T	K144I	1.000
16:70324627:A:C	K144N	1.000
16:70324627:A:T	K144N	1.000
16:70324629:C:T	T145I	1.000
16:70324632:C:A	A146D	1.000
16:70324635:C:A	A147D	1.000
16:70324637:T:C	F148L	1.000
16:70324639:C:A	F148L	1.000
16:70324639:C:G	F148L	1.000
16:70325580:T:C	C167R	1.000
16:70325582:T:G	C167W	1.000
16:70325598:G:A	E173K	1.000
16:70325602:T:A	L174H	1.000
16:70325602:T:C	L174P	1.000
16:70325612:A:C	Q177H	1.000
16:70325612:A:T	Q177H	1.000
16:70325671:C:A	A197D	1.000
16:70329325:T:A	V214D	1.000

dbSNP variants (sampled 300 via entrez): RS1000108116 (16:70328796 G>T), RS1000152214 (16:70320965 T>TC), RS1000162255 (16:70320720 A>G,T), RS1000185848 (16:70287901 G>C), RS1000238431 (16:70299099 G>A), RS1000367411 (16:70323039 G>A,T), RS1000407161 (16:70335287 T>C), RS1000424449 (16:70316323 C>T), RS1000717600 (16:70322635 T>C), RS1000722050 (16:70304127 G>A,C), RS1000738473 (16:70303477 A>T), RS1000829241 (16:70321202 T>C), RS1000837538 (16:70297754 T>A), RS1000839872 (16:70309715 G>A), RS1000917915 (16:70291561 C>A)

Disease associations

OMIM: gene MIM:605812 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): peripheral nervous system disorder (MONDO:0003620)

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005024_82	Pursuit maintenance gain	5.000000e-06
GCST007267_230	Systolic blood pressure	9.000000e-12
GCST010243_51	Apolipoprotein B levels	2.000000e-08
GCST010703_100	Brain morphology (MOSTest)	2.000000e-40
GCST010725_47	Malaria	6.000000e-07

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0008433	pursuit maintenance gain measurement
EFO:0006335	systolic blood pressure
EFO:0004615	apolipoprotein B measurement
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D010523	Peripheral Nervous System Diseases	C10.668.829

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	increases expression, affects cotreatment, decreases expression	2
methylmercuric chloride	decreases expression	1
quercitrin	decreases expression	1
tetrahydropalmatine	decreases expression	1
bisphenol B	increases expression	1
abrine	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ozone	affects expression, increases abundance	1
Potassium Dichromate	increases expression	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Tretinoin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00380965	PHASE4	COMPLETED	Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy
NCT00487981	PHASE4	TERMINATED	Spinal Cord Stimulation for Painful Diabetic Neuropathy
NCT00832572	PHASE4	TERMINATED	Study of Ranexa in Patients With Coronary Artery Disease and Painful Polyneuropathy
NCT00904202	PHASE4	COMPLETED	A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions
NCT01192113	PHASE4	COMPLETED	Safety and Efficacy of Mecobalamin Injection in Peripheral Neuropathies Patients (Study JGAZSY091109)
NCT01373983	PHASE4	COMPLETED	Intrathecal Bolus Doses of Ziconotide
NCT01458015	PHASE4	TERMINATED	Tapentadol Versus Oxycodone - a Mechanism-based Treatment Approach in Neuropathic Pain
NCT02372149	PHASE4	UNKNOWN	IVIg for Demyelination in Diabetes Mellitus
NCT07025005	PHASE4	RECRUITING	Fenofibrate Role in the Prophylaxis From Peripheral Neuropathy Induced by Bortezomib, Lenalidomide and Dexamethasone (VRd) Protocol in the Treatment of Patients With Multiple Myeloma (MM)
NCT00058071	PHASE3	COMPLETED	Amifostine in Treating Peripheral Neuropathy in Patients Who Have Received Chemotherapy for Cancer
NCT00064623	PHASE3	COMPLETED	Study of NGX-4010 for the Treatment of Painful HIV-Associated Neuropathy
NCT00068081	PHASE3	COMPLETED	Controlled Study of NGX-4010 for the Treatment of Postherpetic Neuralgia
NCT00085761	PHASE3	TERMINATED	Study of NGX-4010 for Treatment of Painful HIV-Associated Neuropathy
NCT00115310	PHASE3	COMPLETED	Study of NGX-4010 for the Treatment of Postherpetic Neuralgia
NCT00125268	PHASE3	TERMINATED	Near Infrared Light for the Treatment of Painful Peripheral Neuropathy
NCT00195013	PHASE3	COMPLETED	Randomized Placebo-Controlled Trial of Glutamine for Breast Cancer Patients With Peripheral Neuropathy
NCT00232141	PHASE3	COMPLETED	Study of Pregabalin Versus Placebo in the Treatment of Nerve Pain Associated With HIV Neuropathy
NCT00264875	PHASE3	COMPLETED	Open Label Safety And Efficacy Study Of Pregabalin In Subjects With Nerve Pain Asociated With Human Immunodeficiency Virus (HIV) Neuropathy
NCT00300222	PHASE3	COMPLETED	Study of NGX-4010 for the Treatment of Postherpetic Neuralgia
NCT00321672	PHASE3	COMPLETED	Study of NGX-4010 for the Treatment of Painful HIV-Associated Neuropathy
NCT00369564	PHASE3	COMPLETED	Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer
NCT00471445	PHASE3	COMPLETED	Topical Amitriptyline and Ketamine Cream in Treating Peripheral Neuropathy Caused by Chemotherapy in Cancer Patients
NCT00489411	PHASE3	COMPLETED	Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer
NCT00710554	PHASE3	COMPLETED	A Study of Sativex® for Pain Relief of Peripheral Neuropathic Pain, Associated With Allodynia
NCT00711880	PHASE3	COMPLETED	A Study of Sativex® for Relief of Peripheral Neuropathic Pain Associated With Allodynia.
NCT00713323	PHASE3	COMPLETED	A Study to Compare the Safety and Tolerability of Sativex® in Patients With Neuropathic Pain.
NCT00713817	PHASE3	COMPLETED	A Study to Determine the Maintenance of Effect After Long-term Treatment of Sativex® in Subjects With Neuropathic Pain
NCT00872352	PHASE3	UNKNOWN	Evaluation of Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients
NCT01288937	PHASE3	TERMINATED	A Placebo Controlled, Randomized, Double Blind Trial of Milnacipran for the Treatment of Idiopathic Neuropathy Pain
NCT01465620	PHASE3	COMPLETED	Dietetic and Hygiene Measures in Metabolic Neuropathies: the Neurodiet Study
NCT02024191	PHASE3	UNKNOWN	The Role of Glutamine for Preventing Oxaliplatin-Induced Peripheral Neuropathy
NCT02217267	PHASE3	COMPLETED	Long Term Outcome After Serial Lidocaine Infusion in Peripheral Neuropathic Pain
NCT06071936	PHASE3	UNKNOWN	Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy
NCT06071975	PHASE3	UNKNOWN	Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy
NCT06071988	PHASE3	UNKNOWN	Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy
NCT06072573	PHASE3	UNKNOWN	Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy
NCT06672237	PHASE3	RECRUITING	A Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT00000793	PHASE2	COMPLETED	A Phase II/III Double-Blind Study of Amitriptyline and Mexiletine for Painful Neuropathy in HIV Infection
NCT00000842	PHASE2	COMPLETED	A Phase II, Double-Blind Trial of Recombinant Human Nerve Growth Factor for Treatment of HIV-Associated Sensory Neuropathy
NCT00006072	PHASE2	UNKNOWN	A Study of Rituxan in the Treatment of Polyneuropathies Associated With Serum IgM Autoantibodies