RAB31

Summary

RAB31 (RAB31, member RAS oncogene family, HGNC:9771) is a protein-coding gene on chromosome 18p11.22, encoding Ras-related protein Rab-31 (Q13636). 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; GTP binding activity; and GTPase activity. Involved in several processes, including Golgi to plasma membrane protein transport; cellular response to insulin stimulus; and receptor internalization. Located in early endosome; phagocytic vesicle; and trans-Golgi network membrane. Biomarker of severe acute respiratory syndrome.

Source: NCBI Gene 11031 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_006868

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9771
Approved symbol	RAB31
Name	RAB31, member RAS oncogene family
Location	18p11.22
Locus type	gene with protein product
Status	Approved
Aliases	Rab22B
Ensembl gene	ENSG00000168461
Ensembl biotype	protein_coding
OMIM	605694
Entrez	11031

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 7 protein_coding_CDS_not_defined, 7 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000435762, ENST00000577284, ENST00000577371, ENST00000577796, ENST00000578734, ENST00000578737, ENST00000578921, ENST00000580361, ENST00000580795, ENST00000581109, ENST00000583137, ENST00000583921, ENST00000897649, ENST00000897650, ENST00000897651, ENST00000934252, ENST00000934253, ENST00000948391

RefSeq mRNA: 1 — MANE Select: NM_006868 NM_006868

CCDS: CCDS45826

Canonical transcript exons

ENST00000578921 — 7 exons

Exon	Start	End
ENSE00001238975	9775278	9775357
ENSE00002689772	9708301	9708444
ENSE00002712380	9859228	9862551
ENSE00003521546	9814020	9814091
ENSE00003554798	9792154	9792235
ENSE00003568904	9845582	9845691
ENSE00003615341	9815116	9815222

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.1880 / max 1234.6092, expressed in 1717 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169375	38.2263	1716
169374	0.4131	202
208493	0.1860	60
169378	0.1628	48
169383	0.1158	45
169381	0.0472	19
169380	0.0176	8
169379	0.0157	7
169382	0.0035	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.27	gold quality
trabecular bone tissue	UBERON:0002483	99.20	gold quality
medial globus pallidus	UBERON:0002477	98.86	gold quality
globus pallidus	UBERON:0001875	98.71	gold quality
periodontal ligament	UBERON:0008266	98.63	gold quality
inferior olivary complex	UBERON:0002127	98.61	gold quality
saphenous vein	UBERON:0007318	98.61	gold quality
visceral pleura	UBERON:0002401	98.42	gold quality
cranial nerve II	UBERON:0000941	98.38	gold quality
monocyte	CL:0000576	98.22	gold quality
tendon of biceps brachii	UBERON:0008188	98.22	gold quality
medulla oblongata	UBERON:0001896	98.21	gold quality
ventral tegmental area	UBERON:0002691	98.21	gold quality
endothelial cell	CL:0000115	98.18	gold quality
right adrenal gland cortex	UBERON:0035827	98.13	gold quality
left adrenal gland	UBERON:0001234	98.10	gold quality
lateral globus pallidus	UBERON:0002476	98.09	gold quality
mononuclear cell	CL:0000842	98.07	gold quality
adrenal cortex	UBERON:0001235	98.07	gold quality
popliteal artery	UBERON:0002250	98.01	gold quality
tibial artery	UBERON:0007610	98.01	gold quality
left adrenal gland cortex	UBERON:0035825	98.01	gold quality
right adrenal gland	UBERON:0001233	97.99	gold quality
inferior vagus X ganglion	UBERON:0005363	97.99	gold quality
smooth muscle tissue	UBERON:0001135	97.97	gold quality
decidua	UBERON:0002450	97.96	gold quality
adrenal gland	UBERON:0002369	97.89	gold quality
leukocyte	CL:0000738	97.84	gold quality
superior vestibular nucleus	UBERON:0007227	97.81	gold quality
mucosa of stomach	UBERON:0001199	97.72	gold quality

Single-cell (SCXA)

Detected in 19 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	673.36
E-CURD-122	yes	67.29
E-MTAB-8410	yes	35.78
E-MTAB-10553	yes	31.30
E-HCAD-31	yes	21.65
E-CURD-88	yes	19.61
E-MTAB-9067	yes	15.77
E-HCAD-9	yes	15.31
E-CURD-46	yes	12.18
E-MTAB-9388	yes	12.01
E-MTAB-5061	yes	12.00
E-HCAD-13	yes	7.80
E-MTAB-9801	yes	7.41
E-GEOD-83139	yes	6.90
E-CURD-119	yes	5.33

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1

miRNA regulators (miRDB)

160 targeting RAB31, 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-5011-5P	100.00	83.46	5820
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Literature-anchored findings (GeneRIF, showing 24)

• Thus, Rab22B may have a role in anterograde exit from the trans-Golgi network . (PMID:17678623)
• uPAR-del4/5 and rab31 mRNA represent independent prognostic markers in breast cancer and may be components of different, but possibly associated, tumor-relevant signaling pathways. (PMID:17952591)
• Rab22B possibly plays role in regulating epidermal growth factor receptor (EGFR) and mannose 6-phosphate receptor (M6PR) transport into late endosomes. (PMID:19725050)
• RIN3 specifically acts as a GEF for Rab31. (PMID:21586568)
• Neither UPARwt, nor UPAR-del4/5 nor RAB31 mRNA expression levels were found to be prognostic markers in advanced ovarian cancer. (PMID:21848504)
• MUC1-C and Rab31 function in an autoinductive loop that contributes to overexpression of MUC1-C in breast cancer cells. (PMID:22792175)
• Overexpression of rab31 in breast cancer cells leads to a switch from an invasive to a proliferative phenotype as indicated by an increased cell proliferation, reduced adhesion and invasion in vitro, and a reduced capacity to form lung metastases in vivo. (PMID:22920728)
• Data indicate that early endosome antigen 1 (EEA1) is important for the small GTPase Rab31-mediated enhancement of ligand-bound EGF receptor (EGFR) endocytic trafficking. (PMID:24644286)
• this study provides the evidence of Rab31 overexpression in HCC, and Rab31 is potentially used as a novel biomarker of poor prognosis in patients with HCC. PI3K/AKT/Bcl-2/BAX axis was involved in Rab31-promoting HCC progression. (PMID:26044564)
• the role of Rab31 in cancer progression, is reported. (PMID:26245486)
• The impaired EGFR signaling and its effects on epidermal differentiation were also observed in familial AI patients and Ncstn(DeltaKC) mice. Thus, our study showed that miR-30a-3p/RAB31/EGFR signaling pathway may play a key role in the pathogenesis of familial AI with NCSTN mutations. (PMID:30120935)
• Findings identified a breast cancer (BC) susceptibility SNP, rs6506689 G>T in RAB31. Functional analysis of this germline mutation suggested that the rs6506689-T allele may increase FOXA1-binding affinity and up-regulates the expression of RAB31, ultimately promoting the development of BC. (PMID:30182384)
• Upregulation of Rab31 is associated with poor prognosis and promotes colorectal carcinoma proliferation via the mTOR/p70S6K/Cyclin D1 signalling pathway. (PMID:32707053)
• RAB31 marks and controls an ESCRT-independent exosome pathway. (PMID:32958903)
• High expression of Rab31 confers a poor prognosis and enhances cell proliferation and invasion in oral squamous cell carcinoma. (PMID:33469675)
• Shigella escapes lysosomal degradation through inactivation of Rab31 by IpaH4.5. (PMID:34296983)
• Rab31-dependent regulation of transforming growth factor ss expression in breast cancer cells. (PMID:34906074)
• LncRNA HOXA10-AS Activated by E2F1 Facilitates Proliferation and Migration of Nasopharyngeal Carcinoma Cells Through Sponging miR-582-3p to Upregulate RAB31. (PMID:35072529)
• Defective RAB31-mediated megakaryocytic early endosomal trafficking of VWF, EGFR, and M6PR in RUNX1 deficiency. (PMID:35839075)
• A novel membrane targeting domain mediates the endosomal or Golgi localization specificity of small GTPases Rab22 and Rab31. (PMID:35863437)
• Rab31 promotes metastasis and cisplatin resistance in stomach adenocarcinoma through Twist1-mediated EMT. (PMID:36781842)
• lncRNA MAGI2-AS3 suppresses castration-resistant prostate cancer proliferation and migration via the miR-106a-5p/RAB31 axis. (PMID:36889366)
• Overexpression of RAB31 in gastric cancer is associated with released exosomes and increased tumor cell invasion and metastasis. (PMID:37222416)
• RAB31 in glioma-derived endothelial cells promotes glioma cell invasion via extracellular vesicle-mediated enrichment of MYO1C. (PMID:37953466)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000115832
mus_musculus	Rab31	ENSMUSG00000056515
rattus_norvegicus	Rab31	ENSRNOG00000042189

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-31 — Q13636 (reviewed: Q13636)

Alternative names: Ras-related protein Rab-22B

All UniProt accessions (4): Q13636, J3KRU3, J3KSM8, J3QR51

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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Required for the integrity and for normal function of the Golgi apparatus and the trans-Golgi network. Plays a role in insulin-stimulated translocation of GLUT4 to the cell membrane. Plays a role in M6PR transport from the trans-Golgi network to endosomes. Plays a role in the internalization of EGFR from the cell membrane into endosomes. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis.

Subunit / interactions. Interacts with OCRL. Interacts with NGFR. Interacts (in GDP-bound form) with RIN3 and GAPVD1, which function as guanine exchange factors (GEF). Interacts (in GTP-bound form) with EEA1. Interacts with EGFR. Interacts (in GTP-bound form) with APPL2; interaction contributes to or enhances recruitment of APPL2 to the phagosomes; interaction enhances Fc-gamma receptor-mediated phagocytosis through PI3K/Akt signaling in macrophages.

Subcellular location. Golgi apparatus. trans-Golgi network. trans-Golgi network membrane. Early endosome. Cytoplasmic vesicle. Phagosome. Phagosome membrane.

Tissue specificity. Highest expression in placenta and brain with lower levels in heart and lung. Not detected in liver, skeletal muscle, kidney or pancreas.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) including RIN3 and GAPVD1 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) which prevent Rab-GDP dissociation.

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 drive 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_006859* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (38 total): binding site 15, helix 7, strand 6, short sequence motif 2, lipid moiety-binding region 2, turn 2, chain 1, modified residue 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2FG5	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13636-F1	89.57	0.81

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 (15): 33; 38; 38; 64; 119; 122; 150; 151; 16; 18; 19; 20 …

Post-translational modifications (3): 36, 194, 195

Mutagenesis-validated functional residues (1):

Position	Phenotype
65	no change in gtpase activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-8873719	RAB geranylgeranylation
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 450 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, DORSAM_HOXA9_TARGETS_UP, MCLACHLAN_DENTAL_CARIES_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_SECRETORY_GRANULE, LFA1_Q6, MODULE_45, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, MODULE_16, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND

GO Biological Process (9): intracellular protein transport (GO:0006886), endocytosis (GO:0006897), receptor internalization (GO:0031623), cellular response to insulin stimulus (GO:0032869), Golgi to plasma membrane protein transport (GO:0043001), regulated exocytosis (GO:0045055), positive regulation of phagocytosis, engulfment (GO:0060100), phagosome maturation (GO:0090382), Golgi vesicle transport (GO:0048193)

GO Molecular Function (7): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GDP binding (GO:0019003), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (18): phagocytic cup (GO:0001891), early endosome (GO:0005769), late endosome (GO:0005770), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), endomembrane system (GO:0012505), secretory granule membrane (GO:0030667), early endosome membrane (GO:0031901), trans-Golgi network membrane (GO:0032588), early phagosome membrane (GO:0036186), phagocytic vesicle (GO:0045335), cytoplasm (GO:0005737), endosome (GO:0005768), trans-Golgi network (GO:0005802), membrane (GO:0016020), phagocytic vesicle membrane (GO:0030670), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-3 pathways:

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	3
protein transport	2
vesicle-mediated transport	2
exocytosis	2
guanyl ribonucleotide binding	2
plasma membrane	2
endosome	2
endomembrane system	2
intracellular protein localization	1
intracellular transport	1
vesicle budding from membrane	1
membrane invagination	1
import into cell	1
receptor-mediated endocytosis	1
response to insulin	1
cellular response to peptide hormone stimulus	1
Golgi to plasma membrane transport	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
phagocytosis, engulfment	1
positive regulation of phagocytosis	1
regulation of phagocytosis, engulfment	1
positive regulation of membrane invagination	1
phagolysosome assembly	1
organelle organization	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
purine ribonucleoside triphosphate binding	1
anion binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
vacuole	1
secretory granule	1

Protein interactions and networks

STRING

1522 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB31	RASA1	P20936	814
RAB31	TBC1D2B	Q9UPU7	737
RAB31	EXOC6	Q8TAG9	682
RAB31	GAPVD1	Q14C86	669
RAB31	ZFYVE27	Q5T4F4	638
RAB31	OCRL	Q01968	615
RAB31	RIN3	Q8TB24	603
RAB31	TBC1D4	O60343	551
RAB31	SLC2A4	P14672	485
RAB31	SMCR8	Q8TEV9	481
RAB31	MCF2L2	Q86YR7	452
RAB31	RABGEF1	Q9UJ41	448
RAB31	EIF1B	O60739	446
RAB31	DLL4	Q9NR61	424
RAB31	LMCD1	Q9NZU5	413

IntAct

31 interactions, top by confidence:

A	B	Type	Score
GDI1	RAB4A	psi-mi:“MI:0914”(association)	0.820
RAB31	CHM	psi-mi:“MI:0914”(association)	0.640
RAB31	ALS2CL	psi-mi:“MI:0915”(physical association)	0.560
CALR	RAB31	psi-mi:“MI:0915”(physical association)	0.560
DLST	RAB31	psi-mi:“MI:0915”(physical association)	0.560
RAB31	NEK7	psi-mi:“MI:0915”(physical association)	0.560
RAB31	OCRL	psi-mi:“MI:0407”(direct interaction)	0.440
ADRA1A	RAB31	psi-mi:“MI:0915”(physical association)	0.400
MAPK6	RAB31	psi-mi:“MI:0915”(physical association)	0.370
Inpp5b	PSMD11	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
RAB31	RAB5A	psi-mi:“MI:0914”(association)	0.350
RAB31	SCO1	psi-mi:“MI:0914”(association)	0.350
RAP1GDS1	MRAS	psi-mi:“MI:0914”(association)	0.350
SLC25A26	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC17A1	SGTA	psi-mi:“MI:0914”(association)	0.350
SLC1A2	UBXN8	psi-mi:“MI:0914”(association)	0.350
FOS	ILVBL	psi-mi:“MI:0914”(association)	0.350
TCTN3	TMEM120B	psi-mi:“MI:2364”(proximity)	0.270
TCTN2	TMEM120B	psi-mi:“MI:2364”(proximity)	0.270
RAB31	ALS2CL	psi-mi:“MI:0915”(physical association)	0.000
MPP3	RAB31	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (79): CHML (Affinity Capture-MS), CHM (Affinity Capture-MS), RAB22A (Affinity Capture-MS), GDI2 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), RABGGTB (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), TRIM4 (Affinity Capture-MS), RAB5A (Affinity Capture-MS), RAB31 (Proximity Label-MS), RAB31 (Proximity Label-MS), RAB31 (Affinity Capture-MS), CHML (Affinity Capture-MS), CHM (Affinity Capture-MS), GDI1 (Affinity Capture-MS)

ESM2 similar proteins: C8VQY7, G4MYS1, H9BW96, I1RMF2, O04157, O24461, O76742, O94655, O97572, P09527, P18067, P19892, P20336, P20337, P24408, P31022, P32939, P36411, P36864, P51149, P51150, P51151, P63011, P93267, Q13636, Q39573, Q3T0F5, Q40787, Q41640, Q43463, Q4R4R9, Q5KTJ7, Q5R4W9, Q5R9Y4, Q6GQP4, Q8BHH2, Q921E2, Q948K8, Q99P75, Q9C2L8

Diamond homologs: C8VQY7, F1PTE3, G4MYS1, H9BW96, I1RMF2, M0RC99, O04157, O04486, O24461, O35509, O76742, O94655, O97572, P09527, P17610, P18066, P18067, P20339, P22129, P24408, P31022, P31584, P32939, P35278, P36411, P36864, P46638, P51147, P51148, P51149, P51150, P51151, P51153, P61020, P61021, P61271, P62490, P62491, P62492, P62493

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1732 predictions. Top by Δscore:

Variant	Effect	Δscore
18:9775356:GG:G	donor_gain	1.0000
18:9775357:GG:G	donor_gain	1.0000
18:9792152:A:AG	acceptor_gain	1.0000
18:9792153:G:GG	acceptor_gain	1.0000
18:9792153:GGGC:G	acceptor_gain	1.0000
18:9792233:CGGG:C	donor_loss	1.0000
18:9792234:GG:G	donor_gain	1.0000
18:9792234:GGGT:G	donor_loss	1.0000
18:9792235:GG:G	donor_gain	1.0000
18:9792235:GGT:G	donor_loss	1.0000
18:9792236:G:GG	donor_gain	1.0000
18:9792236:GT:G	donor_loss	1.0000
18:9792237:TGA:T	donor_loss	1.0000
18:9792238:GAG:G	donor_loss	1.0000
18:9814018:A:AG	acceptor_gain	1.0000
18:9814019:G:GA	acceptor_gain	1.0000
18:9814019:GTTTC:G	acceptor_gain	1.0000
18:9815113:TA:T	acceptor_loss	1.0000
18:9815114:A:AG	acceptor_gain	1.0000
18:9815114:A:AT	acceptor_loss	1.0000
18:9815114:AG:A	acceptor_gain	1.0000
18:9815115:G:GG	acceptor_gain	1.0000
18:9815115:GG:G	acceptor_gain	1.0000
18:9815115:GGATT:G	acceptor_gain	1.0000
18:9815219:TTAGG:T	donor_loss	1.0000
18:9815220:TAGGT:T	donor_loss	1.0000
18:9815222:GGTAA:G	donor_loss	1.0000
18:9815223:G:GG	donor_gain	1.0000
18:9815223:GTAA:G	donor_loss	1.0000
18:9815224:T:A	donor_loss	1.0000

AlphaMissense

1290 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000029546 (18:9775061 T>C,G), RS1000054166 (18:9855383 T>C), RS1000080686 (18:9813073 T>C), RS1000093665 (18:9839730 A>G), RS1000104506 (18:9843790 T>G), RS1000127128 (18:9722896 C>A,T), RS1000136862 (18:9774470 T>G), RS1000191280 (18:9799916 C>G), RS1000198231 (18:9723504 A>C,G), RS1000206598 (18:9849224 T>C), RS1000206851 (18:9716660 T>A,C), RS1000208077 (18:9797305 A>G), RS1000225233 (18:9710230 C>T), RS1000239254 (18:9716927 T>G), RS1000261510 (18:9820443 G>A)

Disease associations

OMIM: gene MIM:605694 | 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
GCST002495_3	Blood pressure (age interaction)	6.000000e-06
GCST004403_2	Bone fracture in osteoporosis	1.000000e-06
GCST004744_16	Lung adenocarcinoma	1.000000e-06
GCST004858_24	Dupuytren’s disease	1.000000e-10
GCST007335_35	Age at first sexual intercourse	5.000000e-07
GCST90002379_188	Basophil count	2.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0008007	age at assessment
EFO:0004229	Dupuytren Contracture
EFO:0009749	age at first sexual intercourse measurement
EFO:0005090	basophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases expression, increases reaction, affects cotreatment, decreases expression	8
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	8
Tretinoin	affects expression, affects cotreatment, increases expression	5
methylmercuric chloride	increases expression, affects cotreatment	4
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	4
methylselenic acid	affects expression, increases expression	3
trichostatin A	increases expression, affects cotreatment	3
sodium arsenite	affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression	3
bisphenol A	affects cotreatment, increases methylation, increases expression	2
cobaltous chloride	decreases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
entinostat	increases expression, affects cotreatment	2
Zoledronic Acid	increases expression	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Arsenic	decreases expression, increases abundance, decreases response to substance, affects cotreatment	2
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
chloroacetaldehyde	affects expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium bichromate	decreases expression	1
afimoxifene	decreases reaction, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A7AJ	HeLa M Rab22-DKO	Cancer cell line	Female
CVCL_B2D2	Abcam HeLa RAB31 KO	Cancer cell line	Female
CVCL_TI11	HAP1 RAB31 (-) 1	Cancer cell line	Male
CVCL_TI12	HAP1 RAB31 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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