RAB40B

Summary

RAB40B (RAB40B, member RAS oncogene family, HGNC:18284) is a protein-coding gene on chromosome 17q25.3, encoding Ras-related protein Rab-40B (Q12829). RAB40B small GTPase acts as substrate-recognition components of the ECS(RAB40B) E3 ubiquitin ligase complex which mediates the ubiquitination of target proteins.

The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles.

Source: NCBI Gene 10966 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 55 total — 1 likely-pathogenic
• MANE Select transcript: NM_006822

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18284
Approved symbol	RAB40B
Name	RAB40B, member RAS oncogene family
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	SEC4L, RAR
Ensembl gene	ENSG00000141542
Ensembl biotype	protein_coding
OMIM	619550
Entrez	10966

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 5 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000269347, ENST00000538809, ENST00000570676, ENST00000571554, ENST00000571880, ENST00000571995, ENST00000572603, ENST00000573395, ENST00000574132, ENST00000576148, ENST00000576359, ENST00000950056

RefSeq mRNA: 1 — MANE Select: NM_006822 NM_006822

CCDS: CCDS11816

Canonical transcript exons

ENST00000571995 — 6 exons

Exon	Start	End
ENSE00001316236	82698455	82698698
ENSE00002644302	82654973	82658134
ENSE00003466363	82660987	82661047
ENSE00003530959	82664496	82664556
ENSE00003584169	82658491	82658713
ENSE00003585483	82659580	82659657

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9435 / max 271.3708, expressed in 1627 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169002	8.4988	1625
169001	0.2594	100
168999	0.1853	56

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	99.06	gold quality
globus pallidus	UBERON:0001875	98.87	gold quality
inferior vagus X ganglion	UBERON:0005363	98.24	gold quality
lateral globus pallidus	UBERON:0002476	98.09	gold quality
nucleus accumbens	UBERON:0001882	97.96	gold quality
putamen	UBERON:0001874	97.64	gold quality
postcentral gyrus	UBERON:0002581	97.43	gold quality
orbitofrontal cortex	UBERON:0004167	97.42	gold quality
endothelial cell	CL:0000115	97.39	gold quality
parietal lobe	UBERON:0001872	97.39	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.35	gold quality
caudate nucleus	UBERON:0001873	97.31	gold quality
subthalamic nucleus	UBERON:0001906	97.13	gold quality
CA1 field of hippocampus	UBERON:0003881	97.08	gold quality
spinal cord	UBERON:0002240	96.98	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.90	gold quality
Ammon’s horn	UBERON:0001954	96.82	gold quality
amygdala	UBERON:0001876	96.78	gold quality
ventral tegmental area	UBERON:0002691	96.72	gold quality
superior frontal gyrus	UBERON:0002661	96.69	gold quality
corpus callosum	UBERON:0002336	96.59	gold quality
medulla oblongata	UBERON:0001896	96.55	gold quality
inferior olivary complex	UBERON:0002127	96.49	gold quality
pons	UBERON:0000988	96.48	gold quality
temporal lobe	UBERON:0001871	96.38	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.27	gold quality
prefrontal cortex	UBERON:0000451	96.26	gold quality
right frontal lobe	UBERON:0002810	96.17	gold quality
midbrain	UBERON:0001891	96.11	gold quality
telencephalon	UBERON:0001893	96.09	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.32
E-MTAB-7303	no	438.95
E-MTAB-7381	no	37.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting RAB40B, 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-9-5P	100.00	72.28	2361
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-651-3P	99.94	73.48	5177
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-497-5P	99.92	71.83	2674
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805

Literature-anchored findings (GeneRIF, showing 6)

• Rab40b mediates trafficking of MMP2/9 during invadopodia formation and metastasis of breast cancer cells. (PMID:23902685)
• High expression level of Rab40b was significantly correlated with gastric cancer invasion and lymph node metastasis. (PMID:25790780)
• This is the first study that identifies a new Rab40b-Tks5- and miR-204-dependent invadopodia transport pathway that regulates MMP2 and MMP9 secretion, and extracellular matrix remodeling during cancer progression. (PMID:27789576)
• This is the first study that identifies a new Rab40b-Tks5- and miR-204-dependent invadopodia transport pathway that regulates MMP2 and MMP9 secretion, and extracellular matrix remodeling during cancer progression. (PMID:27909076)
• Rab40-Cullin5 complex regulates EPLIN and actin cytoskeleton dynamics during cell migration. (PMID:33999101)
• Ubiquitylation by Rab40b/Cul5 regulates Rap2 localization and activity during cell migration. (PMID:35293963)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab40b	ENSDARG00000042410
mus_musculus	Rab40b	ENSMUSG00000025170
rattus_norvegicus	Rab40b	ENSRNOG00000036661

Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)

Protein

Protein identifiers

Ras-related protein Rab-40B — Q12829 (reviewed: Q12829)

Alternative names: SOCS box-containing protein RAR

All UniProt accessions (4): Q12829, H0YFJ5, I3L178, J3KN64

UniProt curated annotations — full annotation on UniProt →

Function. RAB40B small GTPase acts as substrate-recognition components of the ECS(RAB40B) E3 ubiquitin ligase complex which mediates the ubiquitination of target proteins. The Rab40 subfamily belongs to the Rab family that are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. As part of the ECS(RAB40B) complex, GTP-bound RAB40B promotes LIMA1/EPLIN ubiquitination and degradation, thereby regulating leading-edge actin dynamics during cell migration. As part of the ECS(RAB40B) complex, GTP-bound RAB40B also ubiquitinates RAP2A GTPase which promotes its localization to lamellipodia and activation to drive cell migration. The ECS(RAB40B) complex does not mediate canonical ubiquitin-dependent degradation of RAP2. RAB40B also binds TKS5/SH3PXD2A effector independently from ECS complex to promote invadopodia-mediated extracellular matrix degradation.

Subunit / interactions. Component of the cullin-5-RING E3 ubiquitin-protein ligase complex (ECS(RAB40B) complex) composed of CUL5, Elongin BC (ELOB and ELOC), RNF7/RBX2 and RAB40B; RAB40B interaction with ECS complex is GTP-independent. Binds (GTP-bound) LIMA1; interaction promotes LIMA1 subcellular localization in lamellipodia during cell migration. Interacts (GTP-bound) with TKS5/SH3PXD2A (via PX domain); interaction promotes invadopodia-mediated extracellular matrix degradation.

Subcellular location. Cell membrane. Cytoplasm. Cytosol. Cell projection. Lamellipodium membrane. Ruffle.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs).

Domain organisation. The SOCS box contains two defined motifs including the BC box that recruits and binds Elongin BC complex, and the Cul box which interacts with the Cullin family of proteins to form a ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex. Switch I, switch II and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drive interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the small GTPase superfamily. Rab family.

RefSeq proteins (1): NP_006813* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001496	SOCS_box	Domain
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036036	SOCS_box-like_dom_sf	Homologous_superfamily
IPR050305	Small_GTPase_Rab	Family

Pfam: PF00071, PF07525

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (18 total): binding site 7, region of interest 3, lipid moiety-binding region 2, compositionally biased region 2, chain 1, domain 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12829-F1	76.36	0.43

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): 69; 72; 126; 127; 23; 26; 27

Post-translational modifications (2): 270, 275

Mutagenesis-validated functional residues (1):

Position	Phenotype
212–215	abolishes interaction with cul5. decreased cell directionality, chemotactic migration and invasion. decreased levels of

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8873719	RAB geranylgeranylation

MSigDB gene sets: 180 (showing top): GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, BENPORATH_ES_WITH_H3K27ME3, GOZGIT_ESR1_TARGETS_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOCC_RUFFLE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CHANDRAN_METASTASIS_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, SMITH_TERT_TARGETS_DN, GOBP_EXOCYTOSIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE

GO Biological Process (8): exocytosis (GO:0006887), protein ubiquitination (GO:0016567), positive regulation of cell migration (GO:0030335), negative regulation of actin filament bundle assembly (GO:0032232), intracellular signal transduction (GO:0035556), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), regulation of lamellipodium organization (GO:1902743), cellular detoxification (GO:1990748)

GO Molecular Function (8): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), metal ion binding (GO:0046872), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (12): ruffle (GO:0001726), nuclear envelope (GO:0005635), endosome (GO:0005768), cytosol (GO:0005829), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), lamellipodium (GO:0030027), lamellipodium membrane (GO:0031258), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
intracellular anatomical structure	2
cell leading edge	2
plasma membrane bounded cell projection	2
endomembrane system	2
cytoplasm	2
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
protein modification by small protein conjugation	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
regulation of actin filament bundle assembly	1
actin filament bundle assembly	1
negative regulation of cytoskeleton organization	1
negative regulation of supramolecular fiber organization	1
signal transduction	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
lamellipodium organization	1
regulation of plasma membrane bounded cell projection organization	1
cellular process	1
cellular response to toxic substance	1
detoxification	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cation binding	1
enzyme-substrate adaptor activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
nucleus	1
organelle envelope	1
cytoplasmic vesicle	1
membrane	1

Protein interactions and networks

STRING

968 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB40B	TIMP2	P16035	734
RAB40B	BAIAP2	Q9UQB8	727
RAB40B	SH3PXD2A	Q5TCZ1	641
RAB40B	RNF213	Q63HN8	584
RAB40B	NF1	P21359	463
RAB40B	WDR45B	Q5MNZ6	425
RAB40B	RABL3	Q5HYI8	415
RAB40B	ARPP19	P56211	406
RAB40B	RILPL2	Q969X0	395
RAB40B	TCEAL5	Q5H9L2	390
RAB40B	TCEAL3	Q969E4	385
RAB40B	RILPL1	Q5EBL4	378
RAB40B	PODXL	O00592	375
RAB40B	BEX5	Q5H9J7	374
RAB40B	FTH1	P02794	372

IntAct

14 interactions, top by confidence:

A	B	Type	Score
EFEMP2	RAB40B	psi-mi:“MI:0915”(physical association)	0.560
RAB40B	RAB40AL	psi-mi:“MI:0914”(association)	0.530
FHIT	RAB40B	psi-mi:“MI:0915”(physical association)	0.370
RAB40B	WFDC1	psi-mi:“MI:0915”(physical association)	0.370
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
RNF7	SOCS2	psi-mi:“MI:0914”(association)	0.350
RAB40B	ARIH2	psi-mi:“MI:0914”(association)	0.350
EFEMP2	RAB40B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (67): TCEB1 (Affinity Capture-MS), CUL5 (Affinity Capture-MS), RABGGTB (Affinity Capture-MS), RAB40AL (Affinity Capture-MS), RAB40C (Affinity Capture-MS), ISCA1 (Affinity Capture-MS), DCAF17 (Affinity Capture-MS), RAB40B (Two-hybrid), FHL3 (Two-hybrid), CUL5 (Affinity Capture-MS), RAB40C (Affinity Capture-MS), RABGGTB (Affinity Capture-MS), RAB40AL (Affinity Capture-MS), DCAF17 (Affinity Capture-MS), TCEB1 (Affinity Capture-MS)

ESM2 similar proteins: A1DZY4, A6QP66, O35626, O35929, O88910, O88954, P0C0E4, P35295, P51157, P51158, P53667, P53668, P53669, P55040, P55041, P55043, P63032, P63033, Q06AU5, Q12829, Q13368, Q13637, Q3SWY9, Q5E9J3, Q5FVY2, Q5R541, Q5RFI2, Q6DGN0, Q6IMA3, Q6IMA7, Q6IMB1, Q6P0U3, Q6T310, Q8AVS6, Q8IYK8, Q8QFP8, Q8VEL9, Q8VHP8, Q8VHQ4, Q8WXH6

Diamond homologs: A4FV54, C4YL11, F1PTE3, O01803, O24466, O35509, P01123, P0C0E4, P0CY30, P0CY31, P10536, P11620, P16976, P17609, P20790, P20791, P22125, P22127, P22128, P22129, P24409, P28186, P28188, P31584, P33723, P34140, P35280, P35281, P35286, P35289, P36861, P40392, P41924, P46638, P51153, P55258, P59190, P61006, P61007, P61026

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	45
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1341991	GRCh37/hg19 17q25.3(chr17:80583397-81044553)x1	Likely pathogenic

SpliceAI

1582 predictions. Top by Δscore:

Variant	Effect	Δscore
17:82658133:CA:C	acceptor_gain	1.0000
17:82658133:CACT:C	acceptor_gain	1.0000
17:82658135:C:CC	acceptor_gain	1.0000
17:82658136:T:C	acceptor_gain	1.0000
17:82658136:T:TC	acceptor_gain	1.0000
17:82658489:AC:A	donor_gain	1.0000
17:82658490:CC:C	donor_gain	1.0000
17:82658710:CATG:C	acceptor_gain	1.0000
17:82658712:TG:T	acceptor_gain	1.0000
17:82698453:ACCCG:A	donor_gain	1.0000
17:82698454:CCCGC:C	donor_gain	1.0000
17:82698490:T:TA	donor_gain	1.0000
17:82657133:T:TA	donor_gain	0.9900
17:82658130:CAGCA:C	acceptor_gain	0.9900
17:82658131:AGCA:A	acceptor_gain	0.9900
17:82658132:GCA:G	acceptor_gain	0.9900
17:82658132:GCAC:G	acceptor_loss	0.9900
17:82658134:ACTT:A	acceptor_loss	0.9900
17:82658135:CTTGG:C	acceptor_loss	0.9900
17:82658136:T:G	acceptor_loss	0.9900
17:82658486:CCTA:C	donor_loss	0.9900
17:82658489:A:T	donor_loss	0.9900
17:82658490:C:CA	donor_loss	0.9900
17:82658709:GCATG:G	acceptor_gain	0.9900
17:82658710:CATGC:C	acceptor_gain	0.9900
17:82658711:ATGC:A	acceptor_loss	0.9900
17:82658713:GCTA:G	acceptor_loss	0.9900
17:82658714:C:CC	acceptor_gain	0.9900
17:82658722:C:CT	acceptor_gain	0.9900
17:82658723:A:T	acceptor_gain	0.9900

AlphaMissense

1804 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:82658588:G:C	S156R	1.000
17:82658588:G:T	S156R	1.000
17:82658590:T:G	S156R	1.000
17:82658682:C:T	G125E	0.999
17:82658683:C:A	G125W	0.999
17:82658688:A:G	L123P	0.999
17:82659600:A:G	W108R	0.999
17:82659600:A:T	W108R	0.999
17:82659620:G:A	S101F	0.999
17:82661015:A:T	I79K	0.999
17:82664505:A:G	L65P	0.999
17:82698535:C:A	G21V	0.999
17:82698535:C:T	G21D	0.999
17:82698536:C:A	G21C	0.999
17:82698536:C:G	G21R	0.999
17:82658544:G:T	A171D	0.998
17:82658622:G:T	A145D	0.998
17:82658676:C:G	R127P	0.998
17:82658678:G:C	N126K	0.998
17:82658678:G:T	N126K	0.998
17:82659638:T:A	D95V	0.998
17:82659642:A:C	Y94D	0.998
17:82659644:A:T	V93D	0.998
17:82659657:C:G	G89R	0.998
17:82698520:C:T	G26D	0.998
17:82698521:C:G	G26R	0.998
17:82658547:A:G	L170P	0.997
17:82658589:C:A	S156I	0.997
17:82658682:C:A	G125V	0.997
17:82658683:C:G	G125R	0.997

dbSNP variants (sampled 300 via entrez): RS1000048318 (17:82687361 A>G,T), RS1000079105 (17:82687009 C>T), RS1000153592 (17:82664033 G>A), RS1000207602 (17:82673076 C>T), RS1000334606 (17:82669177 A>C), RS1000397554 (17:82699717 C>T), RS1000500231 (17:82655106 C>T), RS1000523852 (17:82684018 C>T), RS1000531092 (17:82654902 G>A), RS1000566906 (17:82696452 C>T), RS1000594011 (17:82690892 G>A), RS1000598601 (17:82673229 C>T), RS1000614592 (17:82678253 C>T), RS1000617880 (17:82696168 C>A,T), RS1000751794 (17:82678621 T>C)

Disease associations

OMIM: gene MIM:619550 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007856_71	Colorectal cancer or advanced adenoma	7.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation, affects cotreatment, increases expression	8
bisphenol A	decreases methylation, affects cotreatment, increases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
doxifluridine	increases response to substance	1
benzo(e)pyrene	increases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	decreases expression, affects cotreatment	1
1-UFT protocol	increases response to substance	1
S 1 (combination)	increases response to substance	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Capecitabine	increases response to substance	1
Temozolomide	increases expression	1
Vorinostat	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Cadmium	increases expression	1
Caffeine	increases phosphorylation	1
Cisplatin	affects response to substance	1
Coumestrol	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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