RAB12

Summary

RAB12 (RAB12, member RAS oncogene family, HGNC:31332) is a protein-coding gene on chromosome 18p11.22, encoding Ras-related protein Rab-12 (Q6IQ22). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

Enables GDP binding activity. Predicted to be involved in several processes, including endocytic recycling; endosome to lysosome transport; and positive regulation of macroautophagy. Predicted to act upstream of or within cellular response to type II interferon. Predicted to be located in lysosome; phagocytic vesicle; and recycling endosome membrane. Predicted to be active in cytoplasmic vesicle and plasma membrane.

Source: NCBI Gene 201475 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_001025300

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31332
Approved symbol	RAB12
Name	RAB12, member RAS oncogene family
Location	18p11.22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000206418
Ensembl biotype	protein_coding
OMIM	616448
Entrez	201475

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 retained_intron, 1 protein_coding

ENST00000580987, ENST00000649141

RefSeq mRNA: 1 — MANE Select: NM_001025300 NM_001025300

CCDS: CCDS42410

Canonical transcript exons

ENST00000649141 — 6 exons

Exon	Start	End
ENSE00001543518	8638149	8639383
ENSE00001543519	8636253	8636357
ENSE00001543521	8635533	8635622
ENSE00001543523	8633189	8633327
ENSE00001543524	8624938	8624998
ENSE00003832270	8609437	8609953

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 99.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.1924 / max 519.6252, expressed in 1819 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169300	50.1924	1819

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	99.04	silver quality
buccal mucosa cell	CL:0002336	98.74	gold quality
body of tongue	UBERON:0011876	98.41	gold quality
epithelium of nasopharynx	UBERON:0001951	98.18	silver quality
tongue	UBERON:0001723	98.17	gold quality
superior surface of tongue	UBERON:0007371	98.13	gold quality
vena cava	UBERON:0004087	98.06	silver quality
left ventricle myocardium	UBERON:0006566	98.04	silver quality
myocardium	UBERON:0002349	97.96	silver quality
lower lobe of lung	UBERON:0008949	97.89	gold quality
saphenous vein	UBERON:0007318	97.83	gold quality
gastrocnemius	UBERON:0001388	97.66	gold quality
medulla oblongata	UBERON:0001896	97.66	silver quality
pharyngeal mucosa	UBERON:0000355	97.63	silver quality
hindlimb stylopod muscle	UBERON:0004252	97.63	gold quality
ventral tegmental area	UBERON:0002691	97.58	silver quality
superior vestibular nucleus	UBERON:0007227	97.53	silver quality
muscle of leg	UBERON:0001383	97.52	gold quality
subthalamic nucleus	UBERON:0001906	97.52	silver quality
renal medulla	UBERON:0000362	97.50	gold quality
pons	UBERON:0000988	97.40	silver quality
dorsal plus ventral thalamus	UBERON:0001897	97.40	silver quality
lateral globus pallidus	UBERON:0002476	97.39	silver quality
upper arm skin	UBERON:0004263	97.26	silver quality
ganglionic eminence	UBERON:0004023	97.25	gold quality
nipple	UBERON:0002030	97.23	silver quality
trigeminal ganglion	UBERON:0001675	97.21	silver quality
globus pallidus	UBERON:0001875	97.17	gold quality
pericardium	UBERON:0002407	97.14	silver quality
medial globus pallidus	UBERON:0002477	97.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.62
E-GEOD-81608	no	16.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

121 targeting RAB12, 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-3613-3P	100.00	76.36	7965
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-106A-5P	99.90	73.94	2683

Literature-anchored findings (GeneRIF, showing 8)

• findings demonstrate the functional importance of Rab12 for retrograde toxin trafficking (PMID:24703428)
• a novel signaling pathway identified whereby starvation-induced activation of ULK leads to phosphorylation of endogenous DENND3, with subsequent activation of Rab12 and initiation of membrane trafficking events required for autophagy (PMID:25925668)
• DENND3 is the exchange factor for the small GTPase Rab12 regulated through an intramolecular interaction (PMID:28249939)
• show that DENND3 binds actin through a surface of positively charged residues on the PHenn domain of Ran12 (PMID:29352104)
• The clathrin adaptor complex-1 and Rab12 regulate post-golgi trafficking of WT epidermal growth factor receptor (EGFR). (PMID:36739948)
• LRRK2-mediated phosphorylation and thermal stability of Rab12 are regulated by bound nucleotides. (PMID:37207563)
• Rab12 is a regulator of LRRK2 and its activation by damaged lysosomes. (PMID:37874617)
• Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia. (PMID:38920696)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab12	ENSDARG00000089428
mus_musculus	Rab12	ENSMUSG00000023460
rattus_norvegicus	Rab12	ENSRNOG00000019295

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-12 — Q6IQ22 (reviewed: Q6IQ22)

All UniProt accessions (1): A0A3B3ITT1

UniProt curated annotations — full annotation on UniProt →

Function. The small GTPases Rab 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. RAB12 may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy.

Subunit / interactions. Interacts with RABIF. Interacts with OPTN. Interacts with LRRK2; interaction facilitates phosphorylation of Ser-106. Interacts with GDI1, GDI2, CHM and CHML; these interactions are disrupted by phosphorylation on Ser-106. Interacts with RILPL1 and RILPL2; these interactions are dependent on phosphorylation of Ser-106.

Subcellular location. Recycling endosome membrane. Lysosome membrane. Golgi apparatus membrane. Cytoplasmic vesicle. Autophagosome.

Post-translational modifications. Phosphorylation of Ser-106 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) including DENND3 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. Switch 1, switch 2 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 drives interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.

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

RefSeq proteins (1): NP_001020471* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR041830	Rab12	Family
IPR050305	Small_GTPase_Rab	Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (58 total): binding site 28, helix 8, strand 6, modified residue 4, region of interest 2, short sequence motif 2, lipid moiety-binding region 2, mutagenesis site 2, compositionally biased region 2, chain 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2IL1	X-RAY DIFFRACTION	2.1
8VH5	ELECTRON MICROSCOPY	4
8VH4	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IQ22-F1	79.12	0.51

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 (28): 54; 54; 55; 55; 56; 56; 56; 57; 73; 74; 74; 97 …

Post-translational modifications (6): 1, 21, 25, 106, 243, 244

Mutagenesis-validated functional residues (2):

Position	Phenotype
106	loss of phosphorylation. no effect on gdi1 and gdi2 binding.
106	phosphomimetic mutant. loss of gdi1, gdi2, chm and chml binding.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8873719	RAB geranylgeranylation
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 184 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, GOBP_LYSOSOMAL_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, MARTINEZ_RB1_TARGETS_UP, GOBP_EXOCYTOSIS, GOCC_COATED_VESICLE, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_SECRETION, GOCC_GOLGI_ASSOCIATED_VESICLE

GO Biological Process (7): exocytosis (GO:0006887), autophagy (GO:0006914), endosome to lysosome transport (GO:0008333), protein transport (GO:0015031), protein catabolic process (GO:0030163), endocytic recycling (GO:0032456), Rab protein signal transduction (GO:0032482)

GO Molecular Function (7): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GDP binding (GO:0019003), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), hydrolase activity (GO:0016787)

GO Cellular Component (14): Golgi membrane (GO:0000139), lysosome (GO:0005764), lysosomal membrane (GO:0005765), endosome (GO:0005768), autophagosome (GO:0005776), cytosol (GO:0005829), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), trans-Golgi network transport vesicle (GO:0030140), recycling endosome membrane (GO:0055038), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Rab regulation of trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
cellular anatomical structure	3
vesicle-mediated transport	2
guanyl ribonucleotide binding	2
endomembrane system	2
secretion by cell	1
vesicle fusion to plasma membrane	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
lysosomal transport	1
intercellular transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
macromolecule catabolic process	1
protein metabolic process	1
endosomal transport	1
vesicle-mediated transport to the plasma membrane	1
small GTPase-mediated signal transduction	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
purine ribonucleoside triphosphate binding	1
anion binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
cytoplasmic vesicle	1
vacuole	1
membrane	1
cell periphery	1
exocytic vesicle	1
presynapse	1

Protein interactions and networks

STRING

864 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB12	DENND3	A2RUS2	674
RAB12	RILPL1	Q5EBL4	669
RAB12	RILPL2	Q969X0	668
RAB12	OPTN	Q96CV9	532
RAB12	TBC1D19	Q8N5T2	522
RAB12	RAB6A	P20340	426
RAB12	SLC36A4	Q6YBV0	419
RAB12	MICALL2	Q8IY33	405
RAB12	MADD	Q8WXG6	397
RAB12	UBFD1	O14562	393
RAB12	TBC1D17	Q9HA65	387
RAB12	BICDL2	A1A5D9	385
RAB12	SH3YL1	Q96HL8	366
RAB12	PAQR8	Q8TEZ7	349
RAB12	PPP4R4	Q6NUP7	342

IntAct

27 interactions, top by confidence:

A	B	Type	Score
GDI1	RAB4A	psi-mi:“MI:0914”(association)	0.820
RAB12	GDI1	psi-mi:“MI:0914”(association)	0.790
RILPL2	RAB8A	psi-mi:“MI:0914”(association)	0.720
CHM	RAB5C	psi-mi:“MI:0914”(association)	0.640
RAB12	CHM	psi-mi:“MI:0914”(association)	0.530
LRRTM1	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
SLC15A4	PGRMC1	psi-mi:“MI:0914”(association)	0.530
RAB12	LRRK2	psi-mi:“MI:0915”(physical association)	0.500
RILPL1	RAB8A	psi-mi:“MI:0914”(association)	0.500
CD177	MYO1G	psi-mi:“MI:0914”(association)	0.350
LRRTM1	TMEM223	psi-mi:“MI:0914”(association)	0.350
	SDCBP	psi-mi:“MI:0914”(association)	0.350
Npc1	ESYT2	psi-mi:“MI:0914”(association)	0.350
GDI1	U2SURP	psi-mi:“MI:0914”(association)	0.350
GDI2	SGTA	psi-mi:“MI:0914”(association)	0.350
LSS	DHX15	psi-mi:“MI:0914”(association)	0.350
GDI1	NADK	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
FECH	POTEF	psi-mi:“MI:0914”(association)	0.350
LRRTM1	AGRN	psi-mi:“MI:0914”(association)	0.350
SLC15A3	GXYLT2	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (46): RAB12 (Affinity Capture-MS), RAB12 (Affinity Capture-MS), RAB12 (Affinity Capture-MS), RAB12 (Affinity Capture-Western), RAB12 (Affinity Capture-MS), RAB12 (Affinity Capture-MS), RAB12 (Proximity Label-MS), RAB12 (Affinity Capture-MS), RAB12 (Affinity Capture-MS), RAB12 (Affinity Capture-MS), RAB12 (Affinity Capture-MS), RAB12 (Affinity Capture-MS), RAB12 (Proximity Label-MS), RAB12 (Affinity Capture-MS), RAB12 (Affinity Capture-MS)

ESM2 similar proteins: A2YEQ6, O35963, O74536, O95661, O95755, P25378, P35283, P35284, P51156, P52198, P97950, Q00246, Q02723, Q06AU4, Q08AT1, Q08E00, Q09178, Q14088, Q20365, Q29RR0, Q3SXC5, Q3UHC2, Q504M8, Q53S08, Q5H913, Q5JT25, Q5R615, Q5U1Y1, Q5ZHV1, Q62120, Q62689, Q64008, Q69XM7, Q6IQ22, Q75R65, Q7SZ59, Q7TN89, Q7Z444, Q8C0V7, Q8CAM5

Diamond homologs: A4FV54, F1PTE3, H9BW96, O04157, O14966, O24461, O76742, O94655, O97572, P01123, P09527, P11023, P16976, P17609, P18067, P19892, P20336, P22125, P22127, P24408, P24409, P28188, P31022, P32939, P33723, P34140, P35280, P35283, P35284, P35286, P36864, P40392, P51149, P51150, P51151, P51152, P51153, P55258, P57729, P61006

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
DENND3	“up-regulates activity”	RAB12	“guanine nucleotide exchange factor”
RAB12	“down-regulates quantity by destabilization”	SLC36A4	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 33 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
RAB GEFs exchange GTP for GDP on RABs	5	27.0×	1e-04
Neutrophil degranulation	6	6.0×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1412 predictions. Top by Δscore:

Variant	Effect	Δscore
18:8609950:GTGG:G	donor_gain	1.0000
18:8632924:A:T	donor_gain	1.0000
18:8633187:AG:A	acceptor_gain	1.0000
18:8633188:GG:G	acceptor_gain	1.0000
18:8635531:A:AG	acceptor_gain	1.0000
18:8635532:G:GG	acceptor_gain	1.0000
18:8635532:GTAT:G	acceptor_gain	1.0000
18:8635618:AAAAG:A	donor_loss	1.0000
18:8635619:AAAGG:A	donor_loss	1.0000
18:8635620:AAG:A	donor_loss	1.0000
18:8635621:AGG:A	donor_loss	1.0000
18:8635622:GGTGA:G	donor_loss	1.0000
18:8635623:G:A	donor_loss	1.0000
18:8635624:T:A	donor_loss	1.0000
18:8636251:A:AG	acceptor_gain	1.0000
18:8636252:G:GG	acceptor_gain	1.0000
18:8636358:GT:G	donor_loss	1.0000
18:8636359:T:G	donor_loss	1.0000
18:8638143:C:G	acceptor_gain	1.0000
18:8609949:CGTGG:C	donor_loss	0.9900
18:8609952:GG:G	donor_gain	0.9900
18:8609952:GGGTA:G	donor_loss	0.9900
18:8609953:GG:G	donor_gain	0.9900
18:8609954:G:GG	donor_gain	0.9900
18:8609955:T:TC	donor_loss	0.9900
18:8624932:TTACA:T	acceptor_loss	0.9900
18:8624933:TACA:T	acceptor_loss	0.9900
18:8624934:ACAG:A	acceptor_loss	0.9900
18:8624935:CAGGT:C	acceptor_loss	0.9900
18:8624936:AGGTG:A	acceptor_loss	0.9900

AlphaMissense

2198 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:8609888:G:A	G54D	1.000
18:8609894:C:T	T56I	1.000
18:8609909:G:C	R61P	1.000
18:8609926:T:C	F67L	1.000
18:8609928:C:A	F67L	1.000
18:8609928:C:G	F67L	1.000
18:8624946:T:C	F79L	1.000
18:8624948:C:A	F79L	1.000
18:8624948:C:G	F79L	1.000
18:8633190:G:C	D97H	1.000
18:8633191:A:C	D97A	1.000
18:8633191:A:G	D97G	1.000
18:8633191:A:T	D97V	1.000
18:8633192:C:A	D97E	1.000
18:8633192:C:G	D97E	1.000
18:8633211:T:C	F104L	1.000
18:8633213:C:A	F104L	1.000
18:8633213:C:G	F104L	1.000
18:8633250:G:T	G117W	1.000
18:8633307:T:A	W136R	1.000
18:8633307:T:C	W136R	1.000
18:8609872:G:C	G49R	0.999
18:8609872:G:T	G49C	0.999
18:8609873:G:A	G49D	0.999
18:8609873:G:T	G49V	0.999
18:8609887:G:C	G54R	0.999
18:8609888:G:T	G54V	0.999
18:8609890:A:C	K55Q	0.999
18:8609891:A:T	K55M	0.999
18:8609892:G:C	K55N	0.999

dbSNP variants (sampled 300 via entrez): RS1000127084 (18:8611333 T>C), RS1000149600 (18:8620136 C>A,T), RS1000197630 (18:8609212 A>G), RS1000548695 (18:8629539 G>A,T), RS1000657917 (18:8636226 A>C,G), RS1000716588 (18:8639648 C>T), RS1000727188 (18:8634770 C>T), RS1000849652 (18:8616589 T>C), RS1000963657 (18:8616394 A>AC), RS1001058285 (18:8623328 C>A,T), RS1001177228 (18:8608113 G>A,C), RS1001405808 (18:8623566 G>A), RS1001640623 (18:8618931 CCT>C), RS1001854471 (18:8618064 A>G), RS1001916626 (18:8607806 A>G)

Disease associations

OMIM: gene MIM:616448 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007323_51	Risk-taking tendency (4-domain principal component model)	5.000000e-08
GCST009391_97	Metabolite levels	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008579	risk-taking behaviour
EFO:0010473	cyclic adenosine monophosphate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	affects cotreatment, increases expression	1
zinc chromate	increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
bisphenol B	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	affects methylation	1
Demecolcine	increases expression	1
Folic Acid	decreases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Phenolsulfonphthalein	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	increases expression	1
Vincristine	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TH95	HAP1 RAB12 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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