RAB11FIP2

Summary

RAB11FIP2 (RAB11 family interacting protein 2, HGNC:29152) is a protein-coding gene on chromosome 10q26.11, encoding Rab11 family-interacting protein 2 (Q7L804). A Rab11 effector binding preferentially phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) and acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane.

Enables protein homodimerization activity and protein kinase binding activity. Involved in several processes, including TRAM-dependent toll-like receptor 4 signaling pathway; phagocytosis; and positive regulation of GTPase activity. Located in endosome; nucleoplasm; and phagocytic cup.

Source: NCBI Gene 22841 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_014904

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29152
Approved symbol	RAB11FIP2
Name	RAB11 family interacting protein 2
Location	10q26.11
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0941, nRip11, Rab11-FIP2
Ensembl gene	ENSG00000107560
Ensembl biotype	protein_coding
OMIM	608599
Entrez	22841

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000355624, ENST00000369199, ENST00000476207, ENST00000483413, ENST00000895506

RefSeq mRNA: 2 — MANE Select: NM_014904 NM_001330167, NM_014904

CCDS: CCDS7602, CCDS81512

Canonical transcript exons

ENST00000355624 — 5 exons

Exon	Start	End
ENSE00001095234	118040123	118040565
ENSE00001123753	118045811	118046941
ENSE00001133266	118038972	118039440
ENSE00001952026	118004916	118009225
ENSE00003688553	118015065	118015110

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 97.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.5620 / max 104.1237, expressed in 1644 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111628	3.3693	1346
111629	1.7540	1004
111627	0.8073	457
111626	0.4063	211
111625	0.1554	72
111624	0.0698	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
seminal vesicle	UBERON:0000998	97.99	gold quality
cauda epididymis	UBERON:0004360	97.81	gold quality
corpus epididymis	UBERON:0004359	97.73	gold quality
caput epididymis	UBERON:0004358	97.51	gold quality
postcentral gyrus	UBERON:0002581	94.87	gold quality
parietal lobe	UBERON:0001872	94.05	gold quality
entorhinal cortex	UBERON:0002728	93.43	gold quality
skin of hip	UBERON:0001554	92.56	gold quality
lateral nuclear group of thalamus	UBERON:0002736	92.48	gold quality
superior frontal gyrus	UBERON:0002661	91.89	gold quality
cardia of stomach	UBERON:0001162	91.86	gold quality
germinal epithelium of ovary	UBERON:0001304	91.71	gold quality
blood vessel layer	UBERON:0004797	91.44	gold quality
corpus callosum	UBERON:0002336	91.16	gold quality
cranial nerve II	UBERON:0000941	91.03	gold quality
saphenous vein	UBERON:0007318	90.88	gold quality
calcaneal tendon	UBERON:0003701	90.84	gold quality
urethra	UBERON:0000057	90.79	gold quality
trabecular bone tissue	UBERON:0002483	90.78	gold quality
pigmented layer of retina	UBERON:0001782	90.54	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.28	gold quality
middle temporal gyrus	UBERON:0002771	89.85	gold quality
endothelial cell	CL:0000115	89.52	gold quality
parietal pleura	UBERON:0002400	89.47	gold quality
trigeminal ganglion	UBERON:0001675	89.41	gold quality
nipple	UBERON:0002030	89.14	gold quality
CA1 field of hippocampus	UBERON:0003881	88.86	gold quality
superficial temporal artery	UBERON:0001614	88.82	gold quality
pleura	UBERON:0000977	88.58	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	22.63
E-ANND-3	yes	14.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

285 targeting RAB11FIP2, 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-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-548C-3P	99.99	74.01	7587

Literature-anchored findings (GeneRIF, showing 16)

• Rab11-FIP2 functions downstream of Rab11 in endosomal trafficking. (PMID:11994279)
• Phosphorylation of Rab11-FIP2 on serine 227 by MARK2 regulates an alternative pathway modulating the establishment of epithelial polarity (PMID:16775013)
• Rab11-FIP2 regulates trafficking at multiple points within the apical recycling system of polarized cells (PMID:17626244)
• the FIP2 C2 mutant caused a failure at the final budding step in the RSV virus life cycle (PMID:18621683)
• Rab11A/myosin Vb/Rab11-FIP2 complex frames two late recycling steps of langerin from the ERC to the plasma membrane (PMID:22420646)
• The recruitment of FIP2 is specific since other members of the Rab11-Family of Interacting Proteins do not associate with the chlamydial inclusions. (PMID:23006599)
• Rab11-FIP2 binding to MYO5B is essential for vesicular trafficking in Hela and MDCK cells. (PMID:24372966)
• our findings reveal a novel mechanism underlying the role of Rab11-FIP2 in gastric cancer dissemination (PMID:26502090)
• Our data suggested a potential role of Rab11-FIP2 in tumor progression and provided novel insights into the mechanism of how Rab11-FIP2 positively regulated cell migration and invasion in CRC cells. (PMID:26792722)
• miR-142-3p, a microRNA enriched in exosomes during acute cellular rejection, is transferred to endothelial cells and compromises endothelial barrier function via down-regulation of RAB11FIP2. (PMID:28073833)
• an interaction of Eps15 and Rab11-FIP2 at the appropriate time and location in polarizing cells is necessary for proper establishment of epithelial polarity. (PMID:28228550)
• miR-192/215-Rab11-FIP2 axis appears to represent a new molecular mechanism underlying gastric cancer progression. (PMID:30006518)
• Mechanistic investigations showed that Rab11-FIP2 interacted with the glycolytic kinase PGK1 and promoted its ubiquitination in NSCLC cells, leading to inactivation of the oncogenic AKT/mTOR signaling pathway. (PMID:30471866)
• The integral function of the endocytic recycling compartment is regulated by RFFL-mediated ubiquitylation of Rab11 effectors. (PMID:30659120)
• Knockdown Rab11-FIP2 inhibits migration and invasion of nasopharyngeal carcinoma via suppressing Rho GTPase signaling. (PMID:31452257)
• Crystal structure of the Rab-binding domain of Rab11 family-interacting protein 2. (PMID:32744247)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab11fip2	ENSDARG00000101432
mus_musculus	Rab11fip2	ENSMUSG00000040022
rattus_norvegicus	Rab11fip2	ENSRNOG00000009523
drosophila_melanogaster	Rip11	FBGN0027335
caenorhabditis_elegans		WBGENE00021456

Paralogs (2): RAB11FIP5 (ENSG00000135631), RAB11FIP1 (ENSG00000156675)

Protein

Protein identifiers

Rab11 family-interacting protein 2 — Q7L804 (reviewed: Q7L804)

Alternative names: NRip11

All UniProt accessions (1): Q7L804

UniProt curated annotations — full annotation on UniProt →

Function. A Rab11 effector binding preferentially phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) and acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane. Involved in insulin granule exocytosis. Also involved in receptor-mediated endocytosis and membrane trafficking of recycling endosomes, probably originating from clathrin-coated vesicles. Required in a complex with MYO5B and RAB11 for the transport of NPC1L1 to the plasma membrane. Also acts as a regulator of cell polarity. Plays an essential role in phagocytosis through a mechanism involving TICAM2, RAC1 and CDC42 Rho GTPases for controlling actin-dynamics.

Subunit / interactions. Homooligomerizes in a Rab11-independent manner. Forms a heterooligomeric complex with RAB11FIP4. Interacts with AP2A1, MYO5B, RAB25 and REPS1. Interacts with RAB11A and RAB11B (activated GTP-bound form). Interacts with NPC1L1. Interacts (via NPF motifs) with EHD1 and EHD3. Interacts with TICAM2; this interaction directs RAB11FIP2 to the phagosome. Interacts with RAB14 and RAB25 (GTP-bound forms).

Subcellular location. Cell projection. Phagocytic cup. Cell membrane. Recycling endosome membrane.

Post-translational modifications. Phosphorylation at Ser-227 by MARK2 regulates epithelial cell polarity.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7L804-1	1	yes
Q7L804-2	2

RefSeq proteins (2): NP_001317096, NP_055719* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR019018	Rab-bd_FIP-RBD	Domain
IPR035892	C2_domain_sf	Homologous_superfamily
IPR037245	FIP-RBD_C_sf	Homologous_superfamily
IPR037789	FIP_classI	Family

Pfam: PF00168, PF09457

UniProt features (29 total): mutagenesis site 8, region of interest 5, short sequence motif 3, compositionally biased region 3, domain 2, modified residue 2, helix 2, chain 1, splice variant 1, sequence variant 1, strand 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
3TSO	X-RAY DIFFRACTION	1.8
4C4P	X-RAY DIFFRACTION	2
6S8X	X-RAY DIFFRACTION	2.29
2GZD	X-RAY DIFFRACTION	2.44
2GZH	X-RAY DIFFRACTION	2.47
2K6S	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L804-F1	62.15	0.24

Functional residue map

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

Post-translational modifications (2): 227, 277

Mutagenesis-validated functional residues (8):

Position	Phenotype
223	no effect.
224	no effect.
227	abolishes phosphorylation by mark2 and induces defects in the reestablishment of junctional complexes.
229	no effect.
406–408	severe reduction of the interaction with reps1 and ap2a1. no effects on its subcellular location. modifies the endocytos
480–482	abolishes the interaction with reps1 and ap2a1. modifies its subcellular location and the endocytosis activity. enhances
480	no effect on the interaction with rab11a. abolishes the vesicular localization.
481	abolishes the interaction with rab11a and the vesicular localization.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-432040	Vasopressin regulates renal water homeostasis via Aquaporins

MSigDB gene sets: 255 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GCACCTT_MIR18A_MIR18B, TAATAAT_MIR126, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ATACCTC_MIR202, GOBP_INSULIN_SECRETION, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELL_CELL_SIGNALING

GO Biological Process (11): phagocytosis (GO:0006909), establishment of cell polarity (GO:0030010), TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669), insulin secretion involved in cellular response to glucose stimulus (GO:0035773), positive regulation of GTPase activity (GO:0043547), regulated exocytosis (GO:0045055), positive regulation of protein localization to plasma membrane (GO:1903078), cell communication (GO:0007154), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), signaling (GO:0023052)

GO Molecular Function (5): protein kinase binding (GO:0019901), small GTPase binding (GO:0031267), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (8): phagocytic cup (GO:0001891), nucleoplasm (GO:0005654), endosome (GO:0005768), cytoplasmic vesicle membrane (GO:0030659), recycling endosome membrane (GO:0055038), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Aquaporin-mediated transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cellular process	2
transport	2
cytoplasmic vesicle	2
endocytosis	1
establishment or maintenance of cell polarity	1
toll-like receptor 4 signaling pathway	1
TRAM-dependent toll-like receptor signaling pathway	1
insulin secretion	1
establishment of localization in cell	1
cellular response to glucose stimulus	1
GTPase activity	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
exocytosis	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
positive regulation of protein localization to cell periphery	1
positive regulation of protein localization to membrane	1
intracellular protein localization	1
establishment of protein localization	1
regulation of biological process	1
kinase binding	1
GTPase binding	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
binding	1
plasma membrane	1
nuclear lumen	1
endomembrane system	1
vesicle membrane	1
endosome membrane	1
recycling endosome	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

2191 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB11FIP2	RAB11A	P24410	998
RAB11FIP2	MYO5B	Q9ULV0	998
RAB11FIP2	RAB11FIP3	O75154	966
RAB11FIP2	RAB11FIP4	Q86YS3	953
RAB11FIP2	RAB25	P57735	948
RAB11FIP2	EHD3	Q9NZN3	837
RAB11FIP2	RBSN	Q9H1K0	794
RAB11FIP2	REPS1	Q96D71	752
RAB11FIP2	EHD1	Q9H4M9	747
RAB11FIP2	RAB4A	P20338	717
RAB11FIP2	ARF6	P26438	623
RAB11FIP2	EXOC7	Q9UPT5	609
RAB11FIP2	IKBKG	Q9Y6K9	553
RAB11FIP2	RDX	P35241	534
RAB11FIP2	ARF5	P26437	528

IntAct

142 interactions, top by confidence:

A	B	Type	Score
RAB11FIP2	RAB11A	psi-mi:“MI:0407”(direct interaction)	0.960
RAB11A	RAB11FIP2	psi-mi:“MI:2364”(proximity)	0.960
RAB11A	RAB11FIP2	psi-mi:“MI:0915”(physical association)	0.960
RAB11FIP2	RAB11A	psi-mi:“MI:0915”(physical association)	0.960
RAB11FIP2	YWHAG	psi-mi:“MI:0915”(physical association)	0.870
RAB11B	RAB11FIP2	psi-mi:“MI:0915”(physical association)	0.840
YWHAQ	WDR62	psi-mi:“MI:0914”(association)	0.830
RAB11A	EVI5	psi-mi:“MI:0914”(association)	0.800
YWHAH	ABLIM1	psi-mi:“MI:0914”(association)	0.800
RAB11FIP2	RAB11FIP2	psi-mi:“MI:0407”(direct interaction)	0.770
RAB11FIP2	RAB11FIP2	psi-mi:“MI:0915”(physical association)	0.770
YWHAE	RAB11FIP2	psi-mi:“MI:0915”(physical association)	0.740
KLC1	KIF5B	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RAB11B	SH3BP5	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640

BioGRID (152): RAB11FIP2 (Reconstituted Complex), RAB11FIP2 (Reconstituted Complex), RAB11FIP2 (Reconstituted Complex), RAB11FIP2 (Two-hybrid), RAB11FIP2 (Two-hybrid), RAB11FIP2 (Affinity Capture-Western), RAB11FIP2 (Affinity Capture-Western), RAB11A (Affinity Capture-Western), RAB11FIP2 (Affinity Capture-MS), ASAP1 (Affinity Capture-Western), RAB11FIP2 (Affinity Capture-MS), RAB11FIP2 (Affinity Capture-MS), RAB11FIP2 (Affinity Capture-MS), RAB11FIP2 (Affinity Capture-MS), RAB11FIP2 (Affinity Capture-MS)

ESM2 similar proteins: A0M8S4, A2AMM0, B1PRL5, B6RSP1, F1M3L7, G3XA57, O35867, O94876, P70302, P84903, Q07DY4, Q07E41, Q108T9, Q12929, Q13586, Q1LVV0, Q2IBE6, Q3B7T9, Q3UIL6, Q58CP9, Q5FWH3, Q5R4H4, Q5XGX5, Q5XIZ9, Q68F67, Q69ZX8, Q69ZZ6, Q6DCV1, Q6DD51, Q6IQ23, Q6NVM8, Q6P5Q4, Q7L804, Q80TZ3, Q8BHS8, Q8C0D4, Q8IWB9, Q8K3X6, Q8R310, Q8R5A3

Diamond homologs: C9J798, G3XA57, O43374, O95294, P41823, Q3B7T9, Q6DN14, Q6PFQ7, Q6WKZ4, Q7L804, Q8R361, Q9BXF6, Q9D620, Q9SKA3, Q9ZVT9, Q4KUS2, Q62768, Q62769, Q62770, Q8K0T7, Q8NB66, Q9UPW8, Q9Z1N9, A0A075F932, A6QQP7, A8KBH6, B2RUP2, B3DLH6, K8FE10, O00445, O08625, O35681, O43581, O75923, P04409, P05126, P05128, P05129, P05130, P05696

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MARK2	up-regulates	RAB11FIP2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 100 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
Activation of BAD and translocation to mitochondria	7	82.0×	2e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	72.3×	2e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	72.3×	2e-10
Activation of BH3-only proteins	7	53.5×	2e-09
RHO GTPases activate PKNs	7	34.2×	3e-08
Intrinsic Pathway for Apoptosis	7	31.5×	6e-08
FOXO-mediated transcription	5	25.8×	2e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	21.4×	1e-08

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	25.9×	4e-05
microtubule-based movement	5	17.4×	2e-03
intracellular protein localization	10	12.3×	6e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1487 predictions. Top by Δscore:

Variant	Effect	Δscore
10:118009024:T:A	donor_gain	1.0000
10:118015111:C:CC	acceptor_gain	1.0000
10:118027590:T:TA	donor_gain	1.0000
10:118009001:A:C	donor_gain	0.9900
10:118009068:T:TA	donor_gain	0.9900
10:118009080:A:AC	donor_gain	0.9900
10:118009081:C:CC	donor_gain	0.9900
10:118009221:CTGTC:C	acceptor_gain	0.9900
10:118009225:CCTA:C	acceptor_loss	0.9900
10:118009226:C:CC	acceptor_gain	0.9900
10:118013543:TCAA:T	donor_gain	0.9900
10:118025483:TAGAA:T	donor_gain	0.9900
10:118025484:AGAAA:A	donor_gain	0.9900
10:118039437:CTTC:C	acceptor_gain	0.9900
10:118043455:T:TA	donor_gain	0.9900
10:118045940:C:A	donor_gain	0.9900
10:118013543:T:TA	donor_gain	0.9800
10:118015058:AACTT:A	donor_loss	0.9800
10:118015059:ACTT:A	donor_loss	0.9800
10:118015060:CTTAC:C	donor_loss	0.9800
10:118015063:A:AC	donor_gain	0.9800
10:118015063:ACC:A	donor_loss	0.9800
10:118015064:C:CC	donor_gain	0.9800
10:118015110:AC:A	acceptor_loss	0.9800
10:118033883:ATAT:A	donor_gain	0.9800
10:118043803:T:TA	donor_gain	0.9800
10:118045810:CT:C	donor_gain	0.9800
10:118046262:A:C	donor_gain	0.9800
10:118009040:CGGCA:C	donor_gain	0.9700
10:118009074:AC:A	donor_gain	0.9700

AlphaMissense

3440 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:118009050:A:G	L496P	1.000
10:118009050:A:T	L496H	1.000
10:118009083:A:G	L485P	1.000
10:118009083:A:T	L485H	1.000
10:118009086:A:G	L484P	1.000
10:118009092:T:A	D482V	1.000
10:118009092:T:G	D482A	1.000
10:118009107:A:G	L477P	1.000
10:118040469:A:C	S150R	1.000
10:118040469:A:T	S150R	1.000
10:118040471:T:G	S150R	1.000
10:118040494:A:G	F142S	1.000
10:118045868:C:T	G99E	1.000
10:118045869:C:A	G99W	1.000
10:118045869:C:G	G99R	1.000
10:118045869:C:T	G99R	1.000
10:118045984:C:A	W60C	1.000
10:118045984:C:G	W60C	1.000
10:118045985:C:G	W60S	1.000
10:118045986:A:G	W60R	1.000
10:118045986:A:T	W60R	1.000
10:118009053:A:G	I495T	0.999
10:118009053:A:T	I495N	0.999
10:118009059:G:A	P493L	0.999
10:118009059:G:T	P493H	0.999
10:118009071:A:C	M489R	0.999
10:118009071:A:G	M489T	0.999
10:118009071:A:T	M489K	0.999
10:118009074:A:T	V488E	0.999
10:118009086:A:T	L484H	0.999

dbSNP variants (sampled 300 via entrez): RS1000058048 (10:118004994 A>G), RS1000076233 (10:118005303 C>T), RS1000087634 (10:118047804 C>A), RS1000148151 (10:118031614 T>C), RS1000187129 (10:118041221 C>T), RS1000196924 (10:118041589 A>C,G), RS1000345282 (10:118012871 T>C), RS1000393539 (10:118034939 G>A), RS1000519562 (10:118042867 T>C), RS1000583891 (10:118048144 A>C), RS1000679821 (10:118014185 C>G), RS1000710749 (10:118013936 C>T), RS1000780274 (10:118036525 T>A,C), RS1000793189 (10:118020335 TCAGAAAAGTC>T), RS1000839701 (10:118030992 T>C)

Disease associations

OMIM: gene MIM:608599 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002112_11	Celiac disease	7.000000e-07
GCST002251_6	Homeostasis model assessment of beta-cell function (dietary factor interaction)	3.000000e-08
GCST002445_2	Asthma (sex interaction)	4.000000e-07
GCST005983_36	Serum uric acid levels	2.000000e-09
GCST006091_3	Freckles	6.000000e-21
GCST006091_5	Freckles	1.000000e-09
GCST006091_6	Freckles	3.000000e-09
GCST006096_2	Age spots	1.000000e-09
GCST006096_3	Age spots	1.000000e-06
GCST007725_5	Serum uric acid levels	3.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004469	HOMA-B
EFO:0008111	diet measurement
EFO:0008343	sex interaction measurement
EFO:0004761	uric acid measurement
EFO:0003963	freckles
EFO:0007850	solar lentigines measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	3
Cyclosporine	decreases methylation, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
pirinixic acid	affects binding, increases activity, increases expression	1
trichostatin A	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
azoxystrobin	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
ICG 001	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Diethylstilbestrol	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Folic Acid	decreases expression	1
Formaldehyde	increases expression	1
Lead	affects expression	1
Methotrexate	affects response to substance	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Rotenone	increases expression	1
Dronabinol	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Aflatoxin M1	decreases expression	1
Asbestos, Crocidolite	affects methylation	1

Clinical trials (associated diseases)

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