RIN1

Summary

RIN1 (Ras and Rab interactor 1, HGNC:18749) is a protein-coding gene on chromosome 11q13.2, encoding Ras and Rab interactor 1 (Q13671). Ras effector protein, which may serve as an inhibitory modulator of neuronal plasticity in aversive memory formation.

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in signal transduction. Predicted to act upstream of or within associative learning; memory; and negative regulation of synaptic plasticity. Located in cytoplasm and plasma membrane.

Source: NCBI Gene 9610 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial nonmedullary thyroid carcinoma (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 176 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_004292

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18749
Approved symbol	RIN1
Name	Ras and Rab interactor 1
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000174791
Ensembl biotype	protein_coding
OMIM	605965
Entrez	9610

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000311320, ENST00000524804, ENST00000526246, ENST00000528006, ENST00000530056, ENST00000530745, ENST00000534824, ENST00000869551, ENST00000970357

RefSeq mRNA: 3 — MANE Select: NM_004292 NM_001363559, NM_001363560, NM_004292

CCDS: CCDS31614

Canonical transcript exons

ENST00000311320 — 10 exons

Exon	Start	End
ENSE00001625468	66335978	66336158
ENSE00002180399	66330241	66332752
ENSE00002204468	66336317	66336434
ENSE00003534372	66333258	66333409
ENSE00003548567	66335762	66335876
ENSE00003565922	66334514	66335251
ENSE00003599716	66333919	66334224
ENSE00003652762	66335610	66335682
ENSE00003654215	66333527	66333658
ENSE00003680452	66335407	66335498

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 94.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5203 / max 260.8655, expressed in 1607 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120788	15.0006	1588
120787	0.8411	403
120789	0.5966	384
120790	0.0820	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	94.18	gold quality
tendon of biceps brachii	UBERON:0008188	93.58	gold quality
lower esophagus mucosa	UBERON:0035834	90.66	gold quality
olfactory bulb	UBERON:0002264	89.78	silver quality
type B pancreatic cell	CL:0000169	89.74	silver quality
right hemisphere of cerebellum	UBERON:0014890	89.65	gold quality
skin of leg	UBERON:0001511	89.63	gold quality
skin of abdomen	UBERON:0001416	89.41	gold quality
cerebellar hemisphere	UBERON:0002245	89.05	gold quality
cerebellar cortex	UBERON:0002129	88.99	gold quality
vena cava	UBERON:0004087	88.62	gold quality
esophagus mucosa	UBERON:0002469	88.31	gold quality
nucleus accumbens	UBERON:0001882	88.28	gold quality
cerebellum	UBERON:0002037	88.06	gold quality
zone of skin	UBERON:0000014	87.22	gold quality
putamen	UBERON:0001874	86.86	gold quality
cervix squamous epithelium	UBERON:0006922	86.51	silver quality
lateral globus pallidus	UBERON:0002476	85.53	gold quality
lateral nuclear group of thalamus	UBERON:0002736	85.43	gold quality
caudate nucleus	UBERON:0001873	85.35	gold quality
stromal cell of endometrium	CL:0002255	85.26	gold quality
pancreatic ductal cell	CL:0002079	85.10	silver quality
diaphragm	UBERON:0001103	85.07	gold quality
right frontal lobe	UBERON:0002810	84.87	gold quality
pharyngeal mucosa	UBERON:0000355	84.67	gold quality
right uterine tube	UBERON:0001302	84.57	gold quality
mucosa of transverse colon	UBERON:0004991	84.53	gold quality
body of tongue	UBERON:0011876	84.17	gold quality
cerebellar vermis	UBERON:0004720	83.70	gold quality
gingival epithelium	UBERON:0001949	83.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.16

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SNAI1

miRNA regulators (miRDB)

8 targeting RIN1, 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-6756-5P	99.82	67.97	2466
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-4326	98.97	67.63	962
HSA-MIR-4308	97.56	67.13	1385

Literature-anchored findings (GeneRIF, showing 21)

• Plays an important role in both insulin receptor membrane trafficking and signaling. (PMID:16457816)
• These results indicate that the RIN1 gene serves as an important signal transduction system for evaluating the malignancy of colorectal cancer. (PMID:17390061)
• Rin1 regulates EGFR degradation in cooperation with STAM (PMID:17403676)
• In a tumor cell line, RIN1 silencing may contribute to breast cancer progression. (PMID:18089779)
• Specific residues of RIN1 are required for its interaction with Rab5, binding to the endosomal membranes and subsequent regulation of the fusion reaction. (PMID:19032933)
• Mutations in the Vps9 domain of Rin1 lead to a loss-of-function phenotype, indicating a specific structure-function relationship between Rab5 and Rin1. (PMID:19118546)
• Data demonstrate that proper internalization and endocytic trafficking are critical for EGFR-mediated signaling in A549 cells and suggest that up-regulation of Rin1 in A549 cell lines may contribute to their proliferative nature. (PMID:19570984)
• the novel RIN1 mRNA was found to be expressed in gastric and colon cancer cell lines, suggesting that it is an important gene for the function of cancer cells. (PMID:19806790)
• BCR-ABL1 kinase activity is regulated by RIN1 (PMID:21102429)
• These data identify a novel PKD signaling pathway through RIN1 and Abl kinases that is involved in the regulation of actin remodeling and cell migration. (PMID:21209314)
• over-expression of RIN1 may play an important role in the progression of non-small cell lung cancer and RIN1 expression may offer a valuable marker for predicting the outcome of patients with NSCLC (PMID:21925717)
• RIN1 expression could be a potential prognostic predictor for bladder urothelial carcinoma (UC) patients. (PMID:22249975)
• RIN1 plays an important role in gastric adenocarcinoma progression and that a high RIN1 expression predicts an unfavorable prognosis in gastric adenocarcinoma patients. (PMID:22562267)
• RIN1 expression could be a potential prognostic predictor for the melanoma patients and provide a potential target therapy for melanoma treatment. (PMID:22627834)
• Findings suggest that RIN1 orchestrates RAB5 activation, ABL kinase activation and BIN1 recruitment to determine EGFR fate. (PMID:22976291)
• analysis of a novel deregulated mechanism in chronic myeloid leukemia patients, indicating BIN1 and RIN1 as players in the maintenance of the abnormal RTK signaling in this hematological disease (PMID:26194865)
• Overexpression experiments in tandem with pull-down assays indicated that specific Ser291/292 phosphorylation of RIN1 favored binding to activated Ras (PMID:27137893)
• Smad2 is a key scaffold, allowing RIN1 to act as a GTP exchange factor for MFN2-GTPase activation to promote mitochondrial ATP synthesis and suppress superoxide production during mitochondrial fusion. (PMID:27184078)
• Findings suggest that RIN1 plays an important oncogenic role in clear cell renal cell carcinoma malignancy by activation of EGFR signaling through interacting with Rab25. (PMID:28612496)
• Role of RIN1 on telomerase activity driven by EGF-Ras mediated signaling in breast cancer. (PMID:33069695)
• Expression of RAS and RAB interactor 1 (RIN1) in head and neck tumors at selected hospital in Ghana. (PMID:38635569)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	rin1b	ENSDARG00000070100
danio_rerio	rin1a	ENSDARG00000079095
mus_musculus	Rin1	ENSMUSG00000024883
rattus_norvegicus	Rin1	ENSRNOG00000050223
drosophila_melanogaster	spri	FBGN0085443
drosophila_melanogaster	Rabex-5	FBGN0262937
caenorhabditis_elegans		WBGENE00008183
caenorhabditis_elegans		WBGENE00012644

Paralogs (6): VPS9D1 (ENSG00000075399), RIN3 (ENSG00000100599), RIN2 (ENSG00000132669), RABGEF1 (ENSG00000154710), GAPVD1 (ENSG00000165219), RINL (ENSG00000187994)

Protein

Protein identifiers

Ras and Rab interactor 1 — Q13671 (reviewed: Q13671)

Alternative names: Ras inhibitor JC99, Ras interaction/interference protein 1

All UniProt accessions (6): Q13671, A0A0S2Z4T5, A0A0S2Z4U0, E9PMB8, E9PNR2, H0YCG8

UniProt curated annotations — full annotation on UniProt →

Function. Ras effector protein, which may serve as an inhibitory modulator of neuronal plasticity in aversive memory formation. Can affect Ras signaling at different levels. First, by competing with RAF1 protein for binding to activated Ras. Second, by enhancing signaling from ABL1 and ABL2, which regulate cytoskeletal remodeling. Third, by activating RAB5A, possibly by functioning as a guanine nucleotide exchange factor (GEF) for RAB5A, by exchanging bound GDP for free GTP, and facilitating Ras-activated receptor endocytosis.

Subunit / interactions. Interacts with the GTP-bound form of Ras proteins (NRAS, HRAS and KRAS). This interaction prevents the association between RAF1 and Ras. Interacts with 14-3-3 proteins YWHAB, YWHAE and YWHAZ when phosphorylated on Ser-351. Interacts with the SH3 domain of ABL1 and ABL2. Interacts with RAB5A. The interaction with Ras is probably regulated and antagonized by the interaction with 14-3-3 proteins. The interaction with 14-3-3 proteins is regulated by phosphorylation on Ser-351.

Subcellular location. Cytoplasm. Membrane. Cytoskeleton.

Tissue specificity. Expressed in all tissues examined with high levels in brain, placenta and pancreas.

Post-translational modifications. Phosphorylated on tyrosine residues by ABL1 and ABL2. Phosphorylation at Ser-351 by PRKD1 induces interaction with 14-3-3 proteins.

Miscellaneous. Shows reduced ability to bind to Ras and 14-3-3 proteins.

Similarity. Belongs to the RIN (Ras interaction/interference) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q13671-1	RIN1	yes
Q13671-2	RIN1-delta

RefSeq proteins (3): NP_001350488, NP_001350489, NP_004283* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000159	RA_dom	Domain
IPR000980	SH2	Domain
IPR003123	VPS9	Domain
IPR035867	RIN1_SH2	Domain
IPR036860	SH2_dom_sf	Homologous_superfamily
IPR037191	VPS9_dom_sf	Homologous_superfamily
IPR045046	Vps9-like	Family

Pfam: PF00788, PF02204, PF23268

UniProt features (32 total): modified residue 12, sequence conflict 6, region of interest 5, domain 3, compositionally biased region 3, chain 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13671-F1	67.78	0.33

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 (12): 1, 3, 16, 36, 210, 258, 333, 337, 351, 609, 611, 692

Mutagenesis-validated functional residues (1):

Position	Phenotype
351	abolishes phosphorylation by pkd and the interaction with 14-3-3 proteins.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 168 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, AP1_01, BROWNE_HCMV_INFECTION_6HR_DN, GCANCTGNY_MYOD_Q6, RACCACAR_AML_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, chr11q13, CAGCTG_AP4_Q5, HUMMERICH_SKIN_CANCER_PROGRESSION_UP, YGACNNYACAR_UNKNOWN, AP1_Q4_01, MODULE_289, AML_Q6

GO Biological Process (4): endocytosis (GO:0006897), intracellular signal transduction (GO:0035556), signal transduction (GO:0007165), vesicle-mediated transport (GO:0016192)

GO Molecular Function (4): guanyl-nucleotide exchange factor activity (GO:0005085), GTPase activator activity (GO:0005096), small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (6): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), endocytic vesicle (GO:0030139), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Rab regulation of trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular anatomical structure	2
cellular process	2
GTPase regulator activity	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
signal transduction	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
transport	1
GTP binding	1
GDP binding	1
GTPase activity	1
enzyme activator activity	1
GTPase binding	1
binding	1
cytoplasm	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

856 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RIN1	ABL1	P00519	865
RIN1	RALGDS	Q12967	826
RIN1	RAB5A	P20339	788
RIN1	RAF1	P04049	716
RIN1	AFDN	P55196	706
RIN1	GAPVD1	Q14C86	695
RIN1	YWHAB	P31946	668
RIN1	STAM2	O75886	619
RIN1	ABL2	P42684	611
RIN1	RAB5B	P35239	610
RIN1	RABGEF1	Q9UJ41	610
RIN1	ALS2	Q96Q42	608
RIN1	EEA1	Q15075	596
RIN1	HRAS	P01112	595
RIN1	YWHAZ	P29213	590

IntAct

203 interactions, top by confidence:

A	B	Type	Score
HRAS	RAF1	psi-mi:“MI:0914”(association)	0.980
CCM2	KRIT1	psi-mi:“MI:0914”(association)	0.960
HRAS	RIN1	psi-mi:“MI:0915”(physical association)	0.930
RIN1	HRAS	psi-mi:“MI:0915”(physical association)	0.930
HRAS	RIN1	psi-mi:“MI:0914”(association)	0.930
NRAS	RAF1	psi-mi:“MI:0914”(association)	0.930
NRAS	RIN1	psi-mi:“MI:0915”(physical association)	0.840
RIN1	NRAS	psi-mi:“MI:0914”(association)	0.840
RRAS2	RIN1	psi-mi:“MI:0915”(physical association)	0.830
RIN1	RRAS2	psi-mi:“MI:0915”(physical association)	0.830
RIN1	LZTS2	psi-mi:“MI:0915”(physical association)	0.810
LZTS2	RIN1	psi-mi:“MI:0915”(physical association)	0.810
RIN1	ABL2	psi-mi:“MI:0915”(physical association)	0.800
ABL2	RIN1	psi-mi:“MI:0915”(physical association)	0.800
RIN1	ABL1	psi-mi:“MI:0915”(physical association)	0.790
ABL1	RIN1	psi-mi:“MI:0915”(physical association)	0.790

BioGRID (153): RIN1 (Affinity Capture-Western), ABL2 (Affinity Capture-Western), RIN1 (Affinity Capture-Western), CALCOCO2 (Two-hybrid), LZTS2 (Two-hybrid), ANKS1B (Two-hybrid), RIN1 (Two-hybrid), RIN1 (Affinity Capture-MS), RIN1 (Affinity Capture-MS), KRAS (Affinity Capture-MS), ANKS1A (Affinity Capture-MS), ABL2 (Affinity Capture-MS), NRAS (Affinity Capture-MS), HRAS (Affinity Capture-MS), RRAS (Affinity Capture-MS)

ESM2 similar proteins: A1L3T7, A2A3L6, A4IFI1, A7E3N7, A8MYJ7, A8VU90, O94761, O94812, O95153, O95382, P97680, Q0P5G1, Q13671, Q14154, Q3UYR4, Q4V896, Q53GL7, Q569K6, Q58CQ5, Q58EX7, Q66H85, Q6DT37, Q6F5E8, Q6ZVH7, Q76MJ5, Q7TNF8, Q7Z3H0, Q80UU1, Q80UW5, Q8BWA8, Q8BXP5, Q8BYG0, Q8CIE4, Q8CJ00, Q8IYJ3, Q8NAG6, Q8TE82, Q91WA6, Q91WE1, Q921Q7

Diamond homologs: A8WVM4, O18973, P54787, P97680, Q10NQ3, Q13671, Q852K5, Q8MQW8, Q921Q7, Q9GYH7, Q9JM13, Q9LT31, Q9UJ41, A2RV61, A5D794, P59729, Q14C86, Q6PAR5, Q6ZS11, Q80UW3, Q8TB24, Q8WYP3, Q9D684, Q8C190, Q9Y2B5, O74396, Q6DGF4, Q9DCH6

SIGNOR signaling

12 interactions.

A	Effect	B	Mechanism
RIN1	up-regulates	EGFR	binding
PRKD1	down-regulates	RIN1	phosphorylation
PRKD1	unknown	RIN1	phosphorylation
RIN1	up-regulates	HRAS	binding
RIN1	up-regulates	KRAS	binding
RIN1	up-regulates	ABL2	phosphorylation
RLF	“up-regulates activity”	RIN1	binding
RALGDS	“up-regulates activity”	RIN1	binding
AFDN	“up-regulates activity”	RIN1	binding
ABL2	“up-regulates activity”	RIN1	phosphorylation
ABL1	up-regulates	RIN1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 114 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
SHC1 events in ERBB2 signaling	5	38.4×	4e-05
Signaling by ERBB2 TMD/JMD mutants	5	38.4×	4e-05
Signaling by ERBB2 KD Mutants	5	34.1×	4e-05
RAF/MAP kinase cascade	8	7.9×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
myelination	5	12.8×	1e-02
epidermal growth factor receptor signaling pathway	5	12.6×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	151
Likely benign	10
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1271 predictions. Top by Δscore:

Variant	Effect	Δscore
11:66332755:A:C	acceptor_gain	1.0000
11:66333252:TGTTA:T	donor_loss	1.0000
11:66333253:GTTAC:G	donor_loss	1.0000
11:66333254:TTA:T	donor_loss	1.0000
11:66333255:TACCT:T	donor_loss	1.0000
11:66333256:A:C	donor_loss	1.0000
11:66333257:C:CG	donor_loss	1.0000
11:66333405:GCCAC:G	acceptor_gain	1.0000
11:66333406:CCAC:C	acceptor_gain	1.0000
11:66333406:CCACC:C	acceptor_gain	1.0000
11:66333407:CAC:C	acceptor_gain	1.0000
11:66333407:CACC:C	acceptor_gain	1.0000
11:66333408:AC:A	acceptor_gain	1.0000
11:66333408:ACCTG:A	acceptor_loss	1.0000
11:66333409:CC:C	acceptor_gain	1.0000
11:66333410:C:CC	acceptor_gain	1.0000
11:66333410:CTGG:C	acceptor_loss	1.0000
11:66333411:T:A	acceptor_loss	1.0000
11:66333416:C:CT	acceptor_gain	1.0000
11:66333418:C:CT	acceptor_gain	1.0000
11:66333419:A:T	acceptor_gain	1.0000
11:66333525:A:AC	donor_gain	1.0000
11:66333525:A:AG	donor_loss	1.0000
11:66333525:AC:A	donor_gain	1.0000
11:66333526:C:CA	donor_gain	1.0000
11:66333526:C:CC	donor_gain	1.0000
11:66333526:CCCT:C	donor_gain	1.0000
11:66333531:T:A	donor_gain	1.0000
11:66333654:CTCCC:C	acceptor_gain	1.0000
11:66333655:TCCC:T	acceptor_gain	1.0000

AlphaMissense

4937 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:66333378:G:C	S585R	0.997
11:66333378:G:T	S585R	0.997
11:66333380:T:G	S585R	0.997
11:66335871:G:C	F91L	0.992
11:66335871:G:T	F91L	0.992
11:66335873:A:G	F91L	0.992
11:66335247:G:C	F184L	0.991
11:66335247:G:T	F184L	0.991
11:66335249:A:G	F184L	0.991
11:66332639:G:C	F663L	0.990
11:66332639:G:T	F663L	0.990
11:66332641:A:G	F663L	0.990
11:66335872:A:G	F91S	0.990
11:66332527:A:C	Y701D	0.989
11:66333390:G:C	S581R	0.989
11:66333390:G:T	S581R	0.989
11:66333392:T:G	S581R	0.989
11:66333618:G:C	S544R	0.989
11:66333618:G:T	S544R	0.989
11:66333620:T:G	S544R	0.989
11:66335863:C:G	R94P	0.989
11:66332640:A:G	F663S	0.986
11:66336040:A:G	W69R	0.985
11:66336040:A:T	W69R	0.985
11:66332702:C:A	K642N	0.982
11:66332702:C:G	K642N	0.982
11:66335246:A:G	W185R	0.981
11:66335246:A:T	W185R	0.981
11:66335248:A:G	F184S	0.980
11:66335433:A:G	L174P	0.980

dbSNP variants (sampled 300 via entrez): RS1000154130 (11:66337457 C>A,G), RS1000810804 (11:66332135 C>G), RS1001484719 (11:66333063 T>C), RS1001682340 (11:66337565 C>T), RS1002501448 (11:66335552 A>T), RS1002889154 (11:66329867 C>G,T), RS1003349994 (11:66331901 C>G), RS1003885969 (11:66330592 C>A), RS1004165231 (11:66336098 C>A,T), RS1004813103 (11:66336492 C>A,T), RS1004845927 (11:66336834 C>T), RS1005069123 (11:66332083 G>A), RS1005447982 (11:66331910 G>C), RS1005841023 (11:66337462 G>C), RS1005966567 (11:66332001 G>A)

Disease associations

OMIM: gene MIM:605965 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
familial nonmedullary thyroid carcinoma	Limited	Autosomal dominant

Mondo (1): familial nonmedullary thyroid carcinoma (MONDO:0017896)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001241_12	Bipolar disorder	2.000000e-07
GCST008103_21	Bipolar disorder	2.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3885630 (PROTEIN-PROTEIN INTERACTION)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 584,666 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL857	BIOTIN	4	584,666

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

ChEMBL bioactivities

79 potent at pChembl≥5 of 200 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.05	IC50	8.97	nM	CHEMBL1608529
8.00	IC50	10.06	nM	CHEMBL1232381
7.85	IC50	14.27	nM	CHEMBL1504308
7.84	IC50	14.53	nM	CHEMBL1343539
7.82	IC50	15.03	nM	CHEMBL1399113
7.76	IC50	17.35	nM	CHEMBL1403262
7.73	IC50	18.69	nM	CHEMBL1311154
7.58	IC50	26.15	nM	CHEMBL1475400
7.01	IC50	96.68	nM	CHEMBL1417216
6.97	IC50	106.2	nM	CHEMBL1369512
6.72	IC50	191.9	nM	CHEMBL1455014
6.52	IC50	302	nM	CHEMBL601757
6.49	IC50	323.1	nM	CHEMBL578512
6.39	IC50	406.9	nM	CHEMBL1356021
6.29	IC50	514.2	nM	CHEMBL1732813
6.28	IC50	527.4	nM	CHEMBL1325945
6.28	IC50	528.7	nM	BIOTIN
6.26	IC50	548	nM	CHEMBL1369913
6.21	IC50	618.2	nM	CHEMBL1512846
6.18	IC50	659.1	nM	CHEMBL1580441
6.16	IC50	695	nM	CHEMBL1501047
6.14	IC50	724.2	nM	CHEMBL1571034
6.08	IC50	834.7	nM	CHEMBL175266
6.04	IC50	905	nM	CHEMBL1336319
5.99	IC50	1025	nM	CHEMBL1485830
5.90	IC50	1268	nM	CHEMBL1896885
5.87	IC50	1346	nM	CHEMBL1722228
5.86	IC50	1378	nM	CHEMBL1736479
5.85	IC50	1405	nM	CHEMBL1303555
5.84	IC50	1451	nM	CHEMBL1565528
5.81	IC50	1536	nM	CHEMBL1892599
5.78	IC50	1679	nM	CHEMBL1441033
5.73	IC50	1863	nM	CHEMBL1704366
5.73	IC50	1857	nM	CHEMBL1607186
5.72	IC50	1899	nM	CHEMBL1335745
5.72	IC50	1896	nM	CHEMBL1868487
5.69	IC50	2032	nM	CHEMBL1554805
5.66	IC50	2187	nM	CHEMBL1348125
5.65	IC50	2218	nM	CHEMBL1718137
5.63	IC50	2330	nM	CHEMBL156383
5.62	IC50	2386	nM	CHEMBL1585699
5.61	IC50	2484	nM	CHEMBL1551052
5.58	IC50	2621	nM	CHEMBL1407551
5.54	IC50	2867	nM	CHEMBL1560085
5.53	IC50	2939	nM	CHEMBL1972558
5.52	IC50	2997	nM	CHEMBL1611726
5.50	IC50	3139	nM	CHEMBL1863690
5.49	IC50	3229	nM	CHEMBL1350329
5.46	IC50	3458	nM	CHEMBL1329549
5.45	IC50	3590	nM	CHEMBL2000834

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	5
Estradiol	decreases expression, affects cotreatment, increases expression	3
Arsenic	decreases expression, increases abundance, affects methylation	2
Benzo(a)pyrene	affects methylation, increases expression	2
Cisplatin	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Tretinoin	decreases expression, increases expression	2
Aflatoxin B1	increases expression	2
Cadmium Chloride	decreases expression	2
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
methyleugenol	increases expression	1
propionaldehyde	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
butyraldehyde	increases expression	1
coumarin	affects phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
jinfukang	increases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Decitabine	decreases methylation, increases expression	1
Aldehydes	increases expression	1
Azacitidine	increases expression	1
Caffeine	affects phosphorylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Bucladesine	affects cotreatment, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1963907	Functional	PUBCHEM_BIOASSAY: TRFRET-based biochemical high throughput dose response assay for inhibitors of the interaction of the Ras and Rab interactor 1 protein (Rin1) and the c-abl oncogene 1, non-receptor tyrosine kinase (Abl). (Class of assay: c	PubChem BioAssay data set

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2DS	Abcam HeLa RIN1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05014698	Not specified	TERMINATED	IDEntification of New Predisposition Genes in Differentiated THYroid Cancer
NCT05280379	Not specified	COMPLETED	Trained Immunity in Thyroid Carcinoma and Colon Carcinoma