DYNLRB1

Summary

DYNLRB1 (dynein light chain roadblock-type 1, HGNC:15468) is a protein-coding gene on chromosome 20q11.22, encoding Dynein light chain roadblock-type 1 (Q9NP97). Component of dynein, a family of motor proteins essential for movement along microtubules. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18.

Source: NCBI Gene 83658 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 18 total
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_014183

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15468
Approved symbol	DYNLRB1
Name	dynein light chain roadblock-type 1
Location	20q11.22
Locus type	gene with protein product
Status	Approved
Aliases	DNLC2A, ROBLD1
Ensembl gene	ENSG00000125971
Ensembl biotype	protein_coding
OMIM	607167
Entrez	83658

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay

ENST00000300469, ENST00000357156, ENST00000374846, ENST00000480759, ENST00000696986, ENST00000930605, ENST00000930606

RefSeq mRNA: 5 — MANE Select: NM_014183 NM_001319157, NM_001382365, NM_001382366, NM_001382367, NM_014183

CCDS: CCDS13235

Canonical transcript exons

ENST00000357156 — 4 exons

Exon	Start	End
ENSE00003513582	34526268	34526343
ENSE00003969198	34540581	34540958
ENSE00003969200	34516422	34516461
ENSE00003969201	34534628	34534795

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 99.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 323.8759 / max 5264.0718, expressed in 1828 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184224	317.2569	1828
184226	2.5324	1026
184228	2.3765	1250
184229	1.0885	679
184227	0.3566	74
184223	0.2650	129

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 9	UBERON:0013540	99.46	gold quality
right frontal lobe	UBERON:0002810	99.44	gold quality
anterior cingulate cortex	UBERON:0009835	99.37	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.25	gold quality
tibial nerve	UBERON:0001323	99.12	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.08	gold quality
cortical plate	UBERON:0005343	99.07	gold quality
metanephros cortex	UBERON:0010533	99.07	gold quality
islet of Langerhans	UBERON:0000006	99.06	gold quality
cerebellar hemisphere	UBERON:0002245	99.05	gold quality
left coronary artery	UBERON:0001626	99.04	gold quality
lower esophagus	UBERON:0013473	99.03	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.03	gold quality
popliteal artery	UBERON:0002250	99.01	gold quality
tibial artery	UBERON:0007610	99.01	gold quality
ascending aorta	UBERON:0001496	99.00	gold quality
thoracic aorta	UBERON:0001515	99.00	gold quality
adenohypophysis	UBERON:0002196	99.00	gold quality
right uterine tube	UBERON:0001302	98.99	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.99	gold quality
right coronary artery	UBERON:0001625	98.96	gold quality
apex of heart	UBERON:0002098	98.93	gold quality
descending thoracic aorta	UBERON:0002345	98.91	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.89	gold quality
cerebellar cortex	UBERON:0002129	98.87	gold quality
left uterine tube	UBERON:0001303	98.86	gold quality
skin of leg	UBERON:0001511	98.85	gold quality
right adrenal gland	UBERON:0001233	98.84	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.83	gold quality
smooth muscle tissue	UBERON:0001135	98.82	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	15.47
E-CURD-120	no	30.20
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting DYNLRB1, 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-4481	100.00	66.42	1669
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-520G-3P	98.91	67.38	1914
HSA-MIR-520H	98.91	67.38	1914
HSA-MIR-487A-5P	98.85	69.37	993
HSA-MIR-487B-5P	98.85	69.48	987
HSA-MIR-6885-5P	98.71	64.33	902
HSA-MIR-6754-5P	98.60	65.54	1627
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-619-3P	98.38	65.58	693

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 10)

• Silencing of km23, either through somatic genetic mutation or promoter hypermethylation, is rare in ovarian, breast, and colorectal cancers. (PMID:16778097)
• report the 2.1-A crystal structure of Dnlc2A using single anomalous diffraction (PMID:16970917)
• Infrequently mutated in human colorectal and gastric cancers. (PMID:17556076)
• DYNLRB1 specifically interacts with all three Rab6 isoforms and co-localises at the Golgi. (PMID:18044744)
• Identification of dynein light chain road block-1 as a novel interaction partner with the human reduced folate carrier. (PMID:19571232)
• Findings indicate that km23-2 (DYNLRB2) is required for Smad3-dependent TGFbeta signaling. Km23-2 has functions in TGFbeta signaling that are distinct from those for km23-1 (DYNLRB1). (PMID:19711352)
• km23-1 is required for TGFbeta1 autoinduction through Smad2-independent Ras/ERK/JNK pathways (PMID:22637579)
• these findings demonstrate that km23-1 regulates RhoA and motility-associated actin modulating proteins, suggesting that km23-1 may represent a novel target for anti-metastatic therapy. (PMID:23079622)
• TGFbeta regulates km23-1 interaction with the R1beta regulatory subunit of protein kinase A. (PMID:23333499)
• Human colorectal carcinoma cells display decreased tumor progression and invasion when a novel anti-cell motility target, DYNLRB1, is being silenced. (PMID:23755307)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dynlrb1	ENSDARG00000021582
mus_musculus	Dynlrb1	ENSMUSG00000047459
rattus_norvegicus	Dynlrb1	ENSRNOG00000025715
caenorhabditis_elegans		WBGENE00012004

Paralogs (1): DYNLRB2 (ENSG00000168589)

Protein

Protein identifiers

Dynein light chain roadblock-type 1 — Q9NP97 (reviewed: Q9NP97)

Alternative names: Bithoraxoid-like protein, Dynein light chain 2A, cytoplasmic, Dynein-associated protein Km23, Roadblock domain-containing protein 1

All UniProt accessions (3): Q9NP97, A0A8V8TKK9, B1AKR6

UniProt curated annotations — full annotation on UniProt →

Function. Component of dynein, a family of motor proteins essential for movement along microtubules. Required for structural and functional integrity of cilia. Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules.

Subunit / interactions. Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Part of the ciliary outer dynein arms (ODAs), at least consisting of dynein axonemal heavy chains, light chains and intermediate chains. The ODAs interact with DNAAF9; this interaction inactivates the dyneins. Interacts with DYNLRB2. Interacts with DYNC1I1 and DYNC1I2. Interacts with RAB6A isoform 1 (GTP-bound); the interaction is direct. Interacts with RAB6A isoform 2 (GDP-bound); the interaction is direct. Interacts with RAB6B (GDP-bound).

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. High expression in heart, liver, brain and pancreas; moderate in placenta, skeletal muscle and kidney; low in lung, prostate, testis, small intestine and colon. Isoform 1 expression is up-regulated in 64% hepatocellular carcinoma (HCC) patients.

Miscellaneous. May result from the retention of an intron in the cDNA.

Similarity. Belongs to the GAMAD family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NP97-1	1	yes
Q9NP97-2	2

RefSeq proteins (5): NP_001306086, NP_001369294, NP_001369295, NP_001369296, NP_054902* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004942	Roadblock/LAMTOR2_dom	Domain
IPR016561	DYNLRB1/2	Family

Pfam: PF03259

UniProt features (16 total): strand 7, helix 2, splice variant 2, sequence variant 2, initiator methionine 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

24 structures.

PDB	Method	Resolution (Å)
2HZ5	X-RAY DIFFRACTION	2.1
6F1Z	ELECTRON MICROSCOPY	3.4
6F1T	ELECTRON MICROSCOPY	3.5
9BLY	ELECTRON MICROSCOPY	3.5
6SC2	ELECTRON MICROSCOPY	3.9
8RGH	ELECTRON MICROSCOPY	3.9
8RGG	ELECTRON MICROSCOPY	4
8J07	ELECTRON MICROSCOPY	4.1
9E28	ELECTRON MICROSCOPY	4.4
6RLB	ELECTRON MICROSCOPY	4.5
9E12	ELECTRON MICROSCOPY	4.5
9E13	ELECTRON MICROSCOPY	4.5
9E14	ELECTRON MICROSCOPY	5
9YNH	ELECTRON MICROSCOPY	5.5
9E23	ELECTRON MICROSCOPY	6.2
9HHL	ELECTRON MICROSCOPY	6.53
6F38	ELECTRON MICROSCOPY	6.7
6F3A	ELECTRON MICROSCOPY	8.2
8PR1	ELECTRON MICROSCOPY	8.2
8PTK	ELECTRON MICROSCOPY	10
7Z8F	ELECTRON MICROSCOPY	20
1Z09	SOLUTION NMR
2B95	SOLUTION NMR
2E8J	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NP97-F1	93.15	0.89

Functional residue map

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

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5620924	Intraflagellar transport

MSigDB gene sets: 203 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, GOBP_BEHAVIOR, TGCGCANK_UNKNOWN, GOBP_REGULATION_OF_NUCLEAR_DIVISION, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_CHROMOSOME_SEPARATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, VERNELL_RETINOBLASTOMA_PATHWAY_DN, GOBP_ORGANELLE_FISSION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS

GO Biological Process (3): microtubule-based movement (GO:0007018), visual behavior (GO:0007632), positive regulation of intracellular transport (GO:0032388)

GO Molecular Function (4): microtubule motor activity (GO:0003777), identical protein binding (GO:0042802), dynein intermediate chain binding (GO:0045505), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), centrosome (GO:0005813), cytoplasmic dynein complex (GO:0005868), microtubule (GO:0005874), cilium (GO:0005929), membrane (GO:0016020), ciliary tip (GO:0097542), cytoskeleton (GO:0005856), dynein complex (GO:0030286)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein binding	2
microtubule-based process	1
behavior	1
response to light stimulus	1
regulation of intracellular transport	1
intracellular transport	1
positive regulation of cellular process	1
positive regulation of transport	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
binding	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
dynein complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1
intracellular membraneless organelle	1
microtubule associated complex	1
catalytic complex	1

Protein interactions and networks

STRING

1622 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DYNLRB1	DYNC1LI2	O43237	835
DYNLRB1	DYNLL1	P63167	820
DYNLRB1	DYNLL2	Q96FJ2	785
DYNLRB1	DYNC1LI1	Q9Y6G9	783
DYNLRB1	DYNC1H1	Q14204	770
DYNLRB1	DYNLT3	P51808	743
DYNLRB1	DYNLT1	P63172	741
DYNLRB1	DYNLT2B	Q8WW35	737
DYNLRB1	RAB6A	P20340	694
DYNLRB1	DYNC2LI1	Q8TCX1	662
DYNLRB1	DYNC1I1	O14576	659
DYNLRB1	DCTN6	O00399	654
DYNLRB1	DYNC2I2	Q96EX3	653
DYNLRB1	DYNC2I1	Q8WVS4	646
DYNLRB1	DYNC1I2	Q13409	636

IntAct

87 interactions, top by confidence:

A	B	Type	Score
DYNC1I2	DYNLRB1	psi-mi:“MI:0915”(physical association)	0.750
DYNLRB1	DYNC1I2	psi-mi:“MI:0915”(physical association)	0.750
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
DYNC1I2	DYNC1LI2	psi-mi:“MI:0914”(association)	0.680
DYNLT1	DYNC1LI2	psi-mi:“MI:0914”(association)	0.640
DYNC2I2	DYNLL1	psi-mi:“MI:0914”(association)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
CHCHD4	SSNA1	psi-mi:“MI:0914”(association)	0.640
MAGEA2	DYNLRB1	psi-mi:“MI:0915”(physical association)	0.560
CRCP	DYNLRB1	psi-mi:“MI:0915”(physical association)	0.560
DYNC1I1	DYNLRB1	psi-mi:“MI:0915”(physical association)	0.550
DYNC1H1	DYNC1LI2	psi-mi:“MI:0914”(association)	0.530
DYNC1LI1	DYNC1LI2	psi-mi:“MI:0914”(association)	0.530
DYNLT2B	TIPRL	psi-mi:“MI:0914”(association)	0.510
DYNLRB1	Bcl2l11	psi-mi:“MI:0915”(physical association)	0.510
DYNLRB1	NAGK	psi-mi:“MI:0915”(physical association)	0.460
DYNLRB1	NAGK	psi-mi:“MI:0403”(colocalization)	0.460
Dynll1		psi-mi:“MI:0915”(physical association)	0.400
Dync1h1	DYNLT3	psi-mi:“MI:0915”(physical association)	0.400
Dync1i2	DYNLT3	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (145): DYNLRB1 (Two-hybrid), DYNLRB1 (Two-hybrid), DYNLRB1 (Proximity Label-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS), DYNLRB1 (Affinity Capture-MS)

ESM2 similar proteins: A7RT29, A7S6M8, A9UMU8, B0G185, D3ZVF4, E2QV03, F1SRI0, O02173, O43041, O94697, P0DI81, P0DI82, P22214, P35181, P49231, P53290, P62627, P62628, Q00582, Q08CN0, Q0P3X8, Q21193, Q28IG8, Q32P85, Q3T0F2, Q3T140, Q4PM15, Q54BN3, Q54CU7, Q54QW5, Q54RV6, Q54UB5, Q54UU1, Q557G3, Q5RES6, Q5ZKP4, Q6C880, Q6CJA0, Q74ZD2, Q7TN05

Diamond homologs: P62627, P62628, Q32P85, Q3T140, Q8TF09, Q9DAJ5, Q9NP97

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRKACA	up-regulates	DYNLRB1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 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
Aggrephagy	11	49.6×	3e-14
COPI-independent Golgi-to-ER retrograde traffic	11	41.5×	6e-14
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	10	35.2×	6e-12
Intraflagellar transport	8	29.1×	4e-09
Loss of Nlp from mitotic centrosomes	10	28.8×	3e-11
Loss of proteins required for interphase microtubule organization from the centrosome	10	28.8×	3e-11
AURKA Activation by TPX2	10	27.7×	5e-11
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	12	25.4×	1e-12

GO biological processes:

GO term	Partners	Fold	FDR
intraciliary retrograde transport	5	85.1×	4e-07
microtubule-based movement	8	35.8×	4e-08
microtubule cytoskeleton organization	10	18.4×	5e-08
cell division	12	8.4×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

974 predictions. Top by Δscore:

Variant	Effect	Δscore
20:34526262:T:TA	acceptor_gain	1.0000
20:34526263:G:A	acceptor_gain	1.0000
20:34526263:GGCA:G	acceptor_loss	1.0000
20:34526264:GCAG:G	acceptor_loss	1.0000
20:34526266:A:AG	acceptor_gain	1.0000
20:34526267:G:GA	acceptor_gain	1.0000
20:34526267:GGC:G	acceptor_gain	1.0000
20:34526267:GGCA:G	acceptor_gain	1.0000
20:34526340:GAAG:G	donor_gain	1.0000
20:34526341:AAGGT:A	donor_loss	1.0000
20:34526342:AGGTA:A	donor_loss	1.0000
20:34526344:GT:G	donor_loss	1.0000
20:34526345:T:G	donor_loss	1.0000
20:34534623:CTCA:C	acceptor_loss	1.0000
20:34534624:TCA:T	acceptor_loss	1.0000
20:34534625:CAG:C	acceptor_loss	1.0000
20:34534626:A:AG	acceptor_gain	1.0000
20:34534626:A:T	acceptor_loss	1.0000
20:34534626:AG:A	acceptor_gain	1.0000
20:34534627:G:GA	acceptor_gain	1.0000
20:34534627:GG:G	acceptor_gain	1.0000
20:34534627:GGC:G	acceptor_gain	1.0000
20:34534627:GGCA:G	acceptor_gain	1.0000
20:34534627:GGCAT:G	acceptor_gain	1.0000
20:34534791:ACCAG:A	donor_loss	1.0000
20:34534792:CCAGG:C	donor_loss	1.0000
20:34534793:CAGGT:C	donor_loss	1.0000
20:34534795:GGTAA:G	donor_loss	1.0000
20:34534796:G:A	donor_loss	1.0000
20:34534797:T:G	donor_loss	1.0000

AlphaMissense

637 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:34526329:T:A	V22D	0.999
20:34526343:G:C	G27R	0.999
20:34534705:G:C	A53P	0.999
20:34526319:G:A	G19R	0.998
20:34526319:G:C	G19R	0.998
20:34526320:G:A	G19E	0.998
20:34534628:G:T	G27V	0.998
20:34534642:A:C	S32R	0.998
20:34534644:C:A	S32R	0.998
20:34534644:C:G	S32R	0.998
20:34534745:T:A	L66H	0.998
20:34534750:T:C	F68L	0.998
20:34534752:C:A	F68L	0.998
20:34534752:C:G	F68L	0.998
20:34534754:T:C	L69P	0.998
20:34534757:G:C	R70P	0.998
20:34534765:T:C	S73P	0.998
20:34534787:T:A	V80D	0.998
20:34540596:T:C	L88P	0.998
20:34540602:T:A	V90E	0.998
20:34526287:T:C	L8P	0.997
20:34526293:G:C	R10P	0.997
20:34534676:C:A	A43D	0.997
20:34534706:C:A	A53E	0.997
20:34534721:G:C	R58P	0.997
20:34534763:G:C	R72P	0.997
20:34534777:G:A	E77K	0.997
20:34534778:A:T	E77V	0.997
20:34534790:C:A	A81E	0.997
20:34540608:A:C	Q92P	0.997

dbSNP variants (sampled 300 via entrez): RS1000024701 (20:34520240 A>G), RS1000185707 (20:34537871 G>C), RS1000245030 (20:34534013 C>T), RS1000422488 (20:34515196 A>G), RS1000531273 (20:34526693 C>A,T), RS1000654097 (20:34521028 T>C), RS1000663311 (20:34538845 C>A), RS1000975768 (20:34525815 C>T), RS1000976999 (20:34539582 C>T), RS1000977246 (20:34518703 G>A,C), RS1001008417 (20:34526063 C>T), RS1001050916 (20:34518285 C>T), RS1001116100 (20:34527772 A>G), RS1001163418 (20:34538241 T>A), RS1001471553 (20:34540798 A>G)

Disease associations

OMIM: gene MIM:607167 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST006629_22	Pulse pressure	2.000000e-11
GCST007856_83	Colorectal cancer or advanced adenoma	3.000000e-07
GCST008103_149	Bipolar disorder	3.000000e-06
GCST010135_33	Oily fish consumption	7.000000e-09
GCST010140_23	Pork consumption	7.000000e-09
GCST010142_10	Fish- and plant-related diet	8.000000e-12
GCST90011898_163	Alanine aminotransferase levels	1.000000e-18

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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
Valproic Acid	affects expression, decreases expression, increases expression	3
Smoke	decreases expression	2
dicrotophos	increases expression	1
cinnamaldehyde	increases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
aflatoxin B2	decreases methylation	1
diallyl trisulfide	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
nutlin 3	affects cotreatment, increases secretion	1
ICG 001	decreases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation	1
Dactinomycin	affects cotreatment, increases secretion	1
Hydrogen Peroxide	affects expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Selenium	decreases expression	1
Cyclosporine	increases expression	1
beta-Naphthoflavone	increases expression	1
tert-Butylhydroperoxide	decreases expression	1

Clinical trials (associated diseases)

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