RAB40C

Summary

RAB40C (RAB40C, member RAS oncogene family, HGNC:18285) is a protein-coding gene on chromosome 16p13.3, encoding Ras-related protein Rab-40C (Q96S21). RAB40C small GTPase acts as substrate-recognition component of the ECS(RAB40C) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Predicted to enable GTPase activity. Predicted to be involved in exocytosis. Located in Golgi apparatus and lipid droplet.

Source: NCBI Gene 57799 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_021168

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18285
Approved symbol	RAB40C
Name	RAB40C, member RAS oncogene family
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	RARL
Ensembl gene	ENSG00000197562
Ensembl biotype	protein_coding
OMIM	619551
Entrez	57799

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 14 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000248139, ENST00000509637, ENST00000535977, ENST00000538492, ENST00000539661, ENST00000561781, ENST00000563109, ENST00000564703, ENST00000565511, ENST00000566290, ENST00000568586, ENST00000569575, ENST00000851112, ENST00000851113, ENST00000940190, ENST00000951863, ENST00000951864

RefSeq mRNA: 5 — MANE Select: NM_021168 NM_001172663, NM_001172664, NM_001172665, NM_001172666, NM_021168

CCDS: CCDS10413

Canonical transcript exons

ENST00000248139 — 6 exons

Exon	Start	End
ENSE00001142419	590066	590433
ENSE00003489177	617208	617268
ENSE00003599843	627342	629268
ENSE00003610569	618200	618260
ENSE00003614788	625432	625509
ENSE00003789530	625899	626121

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 95.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7611 / max 133.8733, expressed in 1719 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
151950	3.7688	1606
151951	1.9575	878
151952	1.0348	413

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	95.70	gold quality
skin of abdomen	UBERON:0001416	95.64	gold quality
right frontal lobe	UBERON:0002810	94.51	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.54	gold quality
body of pancreas	UBERON:0001150	93.46	gold quality
cerebellar hemisphere	UBERON:0002245	92.97	gold quality
lower esophagus mucosa	UBERON:0035834	92.75	gold quality
apex of heart	UBERON:0002098	92.73	gold quality
cerebellar cortex	UBERON:0002129	92.72	gold quality
mucosa of transverse colon	UBERON:0004991	92.30	gold quality
right coronary artery	UBERON:0001625	91.00	gold quality
adenohypophysis	UBERON:0002196	90.91	gold quality
prefrontal cortex	UBERON:0000451	90.67	gold quality
zone of skin	UBERON:0000014	90.63	gold quality
body of stomach	UBERON:0001161	90.62	gold quality
lower esophagus	UBERON:0013473	90.55	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.54	gold quality
popliteal artery	UBERON:0002250	90.45	gold quality
tibial artery	UBERON:0007610	90.44	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.15	gold quality
transverse colon	UBERON:0001157	90.07	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.76	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.76	gold quality
cerebellum	UBERON:0002037	89.73	gold quality
cingulate cortex	UBERON:0003027	89.10	gold quality
pituitary gland	UBERON:0000007	88.98	gold quality
anterior cingulate cortex	UBERON:0009835	88.91	gold quality
esophagus	UBERON:0001043	88.67	gold quality
aorta	UBERON:0000947	88.54	gold quality
nucleus accumbens	UBERON:0001882	88.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.38
E-MTAB-6075	no	71.31

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

53 targeting RAB40C, 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-4682	100.00	68.89	1258
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4500	99.99	72.72	2367
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-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4677-3P	99.49	67.91	1246

Literature-anchored findings (GeneRIF, showing 3)

• Rab40c is a novel Rab protein associated with lipid droplets, and is likely involved in modulating the biogenesis of lipid droplets. (PMID:23638186)
• total of 1799 differentially methylated regions were identified including SLC6A3, Rab40C, ZNF584, and FOXD3 whose significant methylation differences were confirmed in breast cancer patients through quantitative real-time polymerase chain reaction.Methylation of those aforementioned genes in white blood cells of our young patients may highlight their potential as early epimarkers (PMID:28349825)
• RAB40C gene polymorphisms rs62030917 and rs2269556 are associated with an increased risk of lumbar disc herniation development in the Chinese Han population. (PMID:32656896)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab40c	ENSDARG00000061208
mus_musculus	Rab40c	ENSMUSG00000025730

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), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955)

Protein

Protein identifiers

Ras-related protein Rab-40C — Q96S21 (reviewed: Q96S21)

Alternative names: Rar-like protein, Ras-like protein family member 8C, SOCS box-containing protein RAR3

All UniProt accessions (8): Q96S21, H3BME4, H3BMH4, H3BNV8, H3BPA5, H3BPB1, H3BTC6, H3BUX0

UniProt curated annotations — full annotation on UniProt →

Function. RAB40C small GTPase acts as substrate-recognition component of the ECS(RAB40C) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation 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(RAB40C) complex, mediates ANKRD28 ubiquitination and degradation, thereby inhibiting protein phosphatase 6 (PP6) complex activity and focal adhesion assembly during cell migration. Also negatively regulate lipid droplets accumulation in a GTP-dependent manner.

Subunit / interactions. Component of the cullin-5-RING E3 ubiquitin-protein ligase complex (ECS(RAB40C) complex) composed of CUL5, Elongin BC (ELOB and ELOC), RNF7/RBX2 and RAB40C. Interacts with protein phosphatase 6 (PP6) complex components ANKRD28, ANKRD52, PPP6C, PP6R1 and PP6R2; the interaction leads to ANKRD28 ubiquitination and decreased PP6 activity. Interacts with DAB2IP; DAB2IP acts as a GAP for RAB40C.

Subcellular location. Cell membrane. Cytoplasm. Cytosol. Golgi apparatus membrane.

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) including DAB2IP, 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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96S21-1	1	yes
Q96S21-2	2

RefSeq proteins (5): NP_001166134, NP_001166135, NP_001166136, NP_001166137, NP_066991* (*=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 (23 total): binding site 9, mutagenesis site 4, region of interest 3, lipid moiety-binding region 2, chain 1, domain 1, splice variant 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96S21-F1	75.24	0.39

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 (9): 46; 69; 72; 126; 127; 23; 26; 27; 46

Post-translational modifications (2): 273, 278

Mutagenesis-validated functional residues (4):

Position	Phenotype
28	constitutively inactive (gdp-bound) mutant. increased lipid droplets accumulation.
73	constitutively active (gtp-bound) mutant. decreased lipid droplets accumulation.
212–215	abolishes interaction with rnf7 and cul5.
221–222	abolishes interaction with rnf7.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8873719	RAB geranylgeranylation

MSigDB gene sets: 177 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_FOCAL_ADHESION_ASSEMBLY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION, MARTINEZ_RB1_TARGETS_UP, GOBP_EXOCYTOSIS

GO Biological Process (8): exocytosis (GO:0006887), cell migration (GO:0016477), protein ubiquitination (GO:0016567), intracellular signal transduction (GO:0035556), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), negative regulation of focal adhesion assembly (GO:0051895), lipid droplet formation (GO:0140042), positive regulation of focal adhesion assembly (GO:0051894)

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 (10): Golgi membrane (GO:0000139), endosome (GO:0005768), lipid droplet (GO:0005811), cytosol (GO:0005829), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), Cul5-RING ubiquitin ligase complex (GO:0031466), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), membrane (GO:0016020)

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	3
intracellular anatomical structure	2
focal adhesion assembly	2
regulation of focal adhesion assembly	2
endomembrane system	2
cytoplasm	2
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
cell motility	1
protein modification by small protein conjugation	1
signal transduction	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
negative regulation of cell-matrix adhesion	1
negative regulation of cell-substrate junction organization	1
negative regulation of cell junction assembly	1
lipid storage	1
lipid droplet organization	1
membraneless organelle assembly	1
positive regulation of cell-matrix adhesion	1
positive regulation of cell-substrate junction organization	1
positive regulation of cell junction assembly	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
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasmic vesicle	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1338 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB40C	ELOB	Q15370	550
RAB40C	CUL5	Q93034	397
RAB40C	SNX13	Q9Y5W8	395
RAB40C	TCEAL5	Q5H9L2	394
RAB40C	TCEAL3	Q969E4	392
RAB40C	SCRIB	Q14160	384
RAB40C	BEX5	Q5H9J7	378
RAB40C	ANKRD27	Q96NW4	377
RAB40C	FTH1	P02794	365
RAB40C	ZNF584	Q8IVC4	365
RAB40C	LDOC1	O95751	346
RAB40C	ADCYAP1R1	P41586	332
RAB40C	ZMIZ1	Q9ULJ6	319
RAB40C	RILPL2	Q969X0	318
RAB40C	ASB1	Q9Y576	311

IntAct

24 interactions, top by confidence:

A	B	Type	Score
CUL5	SOCS2	psi-mi:“MI:0914”(association)	0.880
RABGGTB	YKT6	psi-mi:“MI:0914”(association)	0.740
CUL5	SOCS7	psi-mi:“MI:0914”(association)	0.640
RAB40C	ELOC	psi-mi:“MI:0914”(association)	0.640
RAB40C	ELOC	psi-mi:“MI:0407”(direct interaction)	0.640
RABGGTB	PIPSL	psi-mi:“MI:0914”(association)	0.530
RAB40B	RAB40AL	psi-mi:“MI:0914”(association)	0.530
RNF7	SOCS7	psi-mi:“MI:0914”(association)	0.530
DCUN1D1	RGSL1	psi-mi:“MI:0914”(association)	0.350
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
RNF7	SOCS2	psi-mi:“MI:0914”(association)	0.350
RBX1	OBSL1	psi-mi:“MI:0914”(association)	0.350
RAB40C	RAB40AL	psi-mi:“MI:0914”(association)	0.350
RAB40C	AHCYL1	psi-mi:“MI:0914”(association)	0.350
RAB40B	ARIH2	psi-mi:“MI:0914”(association)	0.350
PSD	RAB40C	psi-mi:“MI:0915”(physical association)	0.000
TOE1	RAB40C	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (78): RAB40C (Affinity Capture-MS), RAB40C (Affinity Capture-MS), RAB40C (Two-hybrid), RAB40C (Affinity Capture-MS), RAB40C (Affinity Capture-MS), RAB40C (Affinity Capture-MS), RAB40C (PCA), RAB40C (Affinity Capture-MS), RAB40C (Affinity Capture-MS), PPM1A (Affinity Capture-MS), RAB40C (Affinity Capture-MS), RAB40C (Affinity Capture-MS), PSMG2 (Affinity Capture-MS), RAB40AL (Affinity Capture-MS), RAB40C (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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 19 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
Neddylation	7	22.1×	1e-06
Antigen processing: Ubiquitination & Proteasome degradation	5	12.4×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein ubiquitination	9	21.9×	8e-09
proteasome-mediated ubiquitin-dependent protein catabolic process	7	21.5×	1e-06
intracellular signal transduction	5	11.2×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1979 predictions. Top by Δscore:

Variant	Effect	Δscore
16:589544:GCGT:G	donor_gain	1.0000
16:590431:ACGGT:A	donor_loss	1.0000
16:590433:GGTA:G	donor_loss	1.0000
16:590434:G:C	donor_loss	1.0000
16:590434:G:GG	donor_gain	1.0000
16:590435:T:G	donor_loss	1.0000
16:625507:GAGGT:G	donor_loss	1.0000
16:625508:AGGT:A	donor_loss	1.0000
16:625509:GGT:G	donor_loss	1.0000
16:625511:T:G	donor_loss	1.0000
16:626108:G:GT	donor_gain	1.0000
16:626118:CGAG:C	donor_loss	1.0000
16:626119:GAGG:G	donor_loss	1.0000
16:626120:AG:A	donor_loss	1.0000
16:626121:GG:G	donor_loss	1.0000
16:626123:T:G	donor_loss	1.0000
16:627340:A:AG	acceptor_gain	1.0000
16:627340:AGT:A	acceptor_gain	1.0000
16:627341:G:GA	acceptor_gain	1.0000
16:627341:GT:G	acceptor_gain	1.0000
16:627341:GTG:G	acceptor_gain	1.0000
16:627341:GTGT:G	acceptor_gain	1.0000
16:627341:GTGTT:G	acceptor_gain	1.0000
16:589553:A:T	donor_gain	0.9900
16:589979:G:GT	donor_gain	0.9900
16:589979:G:T	donor_gain	0.9900
16:590431:ACG:A	donor_gain	0.9900
16:611032:A:AG	acceptor_gain	0.9900
16:611034:T:A	acceptor_gain	0.9900
16:617204:GCA:G	acceptor_loss	0.9900

AlphaMissense

1851 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:590352:G:C	G21R	1.000
16:590352:G:T	G21C	1.000
16:590353:G:A	G21D	1.000
16:590353:G:T	G21V	1.000
16:590367:G:C	G26R	1.000
16:590368:G:A	G26D	1.000
16:617259:T:C	L65P	1.000
16:618222:T:C	F76L	1.000
16:618224:C:A	F76L	1.000
16:618224:C:G	F76L	1.000
16:625432:G:A	G89R	1.000
16:625432:G:C	G89R	1.000
16:625432:G:T	G89W	1.000
16:625433:G:A	G89E	1.000
16:625469:C:T	S101F	1.000
16:625489:T:A	W108R	1.000
16:625489:T:C	W108R	1.000
16:625491:G:C	W108C	1.000
16:625491:G:T	W108C	1.000
16:625924:T:C	L123S	1.000
16:625927:T:A	V124D	1.000
16:625929:G:A	G125R	1.000
16:625929:G:C	G125R	1.000
16:625930:G:A	G125E	1.000
16:625936:G:C	R127P	1.000
16:625963:T:A	V136D	1.000
16:626022:A:C	S156R	1.000
16:626024:C:A	S156R	1.000
16:626024:C:G	S156R	1.000
16:626071:G:C	R172P	1.000

dbSNP variants (sampled 300 via entrez): RS1000023736 (16:628609 G>A), RS1000073617 (16:596775 G>A), RS1000090107 (16:588419 C>A,G,T), RS1000092192 (16:591907 T>A,C), RS1000125711 (16:603721 A>G), RS1000180590 (16:601317 C>T), RS1000255595 (16:601513 G>A), RS1000287972 (16:617479 C>A,T), RS1000338798 (16:606564 G>T), RS1000345326 (16:605668 G>A), RS1000425270 (16:596974 G>A), RS1000458950 (16:605926 T>C,G), RS1000470816 (16:600529 G>T), RS1000493406 (16:611426 T>C), RS1000522942 (16:600367 T>C)

Disease associations

OMIM: gene MIM:619551 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000176_13	Height	5.000000e-06
GCST001687_13	Disc degeneration (lumbar)	4.000000e-06
GCST012168_4	Adiponectin levels	4.000000e-06
GCST012227_278	Hip circumference adjusted for BMI	3.000000e-08
GCST90002390_645	Mean corpuscular hemoglobin	9.000000e-18
GCST90002392_490	Mean corpuscular volume	6.000000e-18

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004502	adiponectin measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004527	mean corpuscular hemoglobin

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
abrine	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	increases expression	1
Formaldehyde	increases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Methotrexate	increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Smoke	decreases expression	1
Tamoxifen	increases expression	1
Urethane	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	decreases methylation	1
Copper Sulfate	decreases expression	1
1-Butanol	affects cotreatment, decreases expression, increases abundance	1
Raloxifene Hydrochloride	increases expression	1
Particulate Matter	decreases expression, increases abundance, affects cotreatment	1

Clinical trials (associated diseases)

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