RHPN2

Summary

RHPN2 (rhophilin Rho GTPase binding protein 2, HGNC:19974) is a protein-coding gene on chromosome 19q13.11, encoding Rhophilin-2 (Q8IUC4). Binds specifically to GTP-Rho.

This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton.

Source: NCBI Gene 85415 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 116 total
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 3 cancer types
• MANE Select transcript: NM_033103

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19974
Approved symbol	RHPN2
Name	rhophilin Rho GTPase binding protein 2
Location	19q13.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000131941
Ensembl biotype	protein_coding
OMIM	617932
Entrez	85415

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 retained_intron, 2 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000254260, ENST00000544458, ENST00000585641, ENST00000588388, ENST00000588683, ENST00000591502, ENST00000592247, ENST00000859930

RefSeq mRNA: 1 — MANE Select: NM_033103 NM_033103

CCDS: CCDS12427

Canonical transcript exons

ENST00000254260 — 15 exons

Exon	Start	End
ENSE00003469027	33021571	33021646
ENSE00003471234	33011679	33011803
ENSE00003479943	33044249	33044364
ENSE00003489137	32990514	32990669
ENSE00003498494	32999586	32999705
ENSE00003514463	33008014	33008180
ENSE00003541129	32978592	32980256
ENSE00003570855	33012647	33012724
ENSE00003572339	32993977	32994053
ENSE00003594078	33026504	33026632
ENSE00003607533	33064784	33064888
ENSE00003624647	33002813	33003000
ENSE00003651645	32991823	32991969
ENSE00003678233	33002247	33002403
ENSE00003692150	32996026	32996220

Expression profiles

Bgee: expression breadth ubiquitous, 212 present calls, max score 98.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1296 / max 367.8333, expressed in 1127 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180402	6.1296	1127

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	98.69	gold quality
pancreatic ductal cell	CL:0002079	97.48	gold quality
oviduct epithelium	UBERON:0004804	97.02	gold quality
ileal mucosa	UBERON:0000331	96.17	gold quality
oocyte	CL:0000023	96.06	gold quality
bronchial epithelial cell	CL:0002328	95.80	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.31	gold quality
colonic mucosa	UBERON:0000317	95.02	gold quality
bronchus	UBERON:0002185	94.77	gold quality
parotid gland	UBERON:0001831	94.73	gold quality
secondary oocyte	CL:0000655	94.24	gold quality
jejunal mucosa	UBERON:0000399	93.51	gold quality
germinal epithelium of ovary	UBERON:0001304	93.14	gold quality
epithelium of nasopharynx	UBERON:0001951	91.90	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.43	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.85	gold quality
rectum	UBERON:0001052	90.27	gold quality
right uterine tube	UBERON:0001302	89.21	gold quality
nasal cavity epithelium	UBERON:0005384	88.52	silver quality
duodenum	UBERON:0002114	88.50	gold quality
nasal cavity mucosa	UBERON:0001826	88.05	gold quality
mucosa of transverse colon	UBERON:0004991	87.95	gold quality
islet of Langerhans	UBERON:0000006	87.92	gold quality
palpebral conjunctiva	UBERON:0001812	87.36	gold quality
prostate gland	UBERON:0002367	86.90	gold quality
fallopian tube	UBERON:0003889	86.03	gold quality
endometrium	UBERON:0001295	85.69	gold quality
gall bladder	UBERON:0002110	85.42	gold quality
liver	UBERON:0002107	85.10	gold quality
metanephros cortex	UBERON:0010533	84.94	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-7249	yes	11.36
E-ANND-3	yes	7.46
E-ENAD-27	yes	6.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

128 targeting RHPN2, 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-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-96-5P	99.95	72.80	2140
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

Literature-anchored findings (GeneRIF, showing 10)

• Rhophilin-2 may function normally in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity (PMID:12221077)
• may play a key role between RhoB and potential downstream elements needed under stimulation of the thyrotropin/cAMP pathway in thyrocytes (PMID:12473120)
• These effects were implemented through RHPN2-mediated activation of RhoA. (PMID:23774217)
• Single nucleotide polymorphism in RHPN2 gene is associated with colorectal cancer. (PMID:25799222)
• We found significant association between RHPN2 gene rs10411210 and colorectal cancer in European and Asian populations, but not American population (PMID:26349980)
• It may contribute to the pathogenesis of nonsyndromic orofacial clefts in Chinese populations. (PMID:29949196)
• The hBMSCs-derived exosomal miR-205 retards prostate cancer progression by inhibiting RHPN2, suggesting that miR-205 may present a predictor and potential therapeutic target for prostate cancer. (PMID:31847864)
• Long Noncoding RNA RP11-89K21.1 Interacts with miR-146a/b-5p to Promote Proliferation and Gefitinib Resistance Through Regulating RHPN2 and RhoA/ROCK Pathway in Lung Adenocarcinoma. (PMID:33877886)
• P76RBE silencing inhibits ovarian cancer cell proliferation, migration, and invasion via suppressing the integrin beta1/NF-kappaB pathway. (PMID:34382920)
• [RHPN2 is highly expressed in osteosarcoma cells to promote cell proliferation and migration and inhibit apoptosis]. (PMID:36210710)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rhpn2	ENSDARG00000014577
mus_musculus	Rhpn2	ENSMUSG00000030494
rattus_norvegicus	Rhpn2	ENSRNOG00000011885
drosophila_melanogaster	Rhp	FBGN0026374
caenorhabditis_elegans	ego-2	WBGENE00001215

Paralogs (1): RHPN1 (ENSG00000158106)

Protein

Protein identifiers

Rhophilin-2 — Q8IUC4 (reviewed: Q8IUC4)

Alternative names: 76 kDa RhoB effector protein, GTP-Rho-binding protein 2, p76RBE

All UniProt accessions (2): K7EL35, Q8IUC4

UniProt curated annotations — full annotation on UniProt →

Function. Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fiber formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity.

Subunit / interactions. Interacts with GTP-bound RhoA and RhoB. Interacts with both GTP- and GDP-bound RhoA. According to PubMed:12473120, it does not interact with RhoA. Interacts with KRT18.

Subcellular location. Cytoplasm. Perinuclear region.

Tissue specificity. Widely expressed. Highly expressed in prostate, trachea, stomach, colon, thyroid and pancreas. Expressed at lower level in brain, spinal cord, kidney, placenta and liver.

Induction. By thyrotropin (TSH). Regulated by the cAMP pathway.

Similarity. Belongs to the RHPN family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IUC4-1	1	yes
Q8IUC4-2	2

RefSeq proteins (1): NP_149094* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR004328	BRO1_dom	Domain
IPR011072	HR1_rho-bd	Domain
IPR036034	PDZ_sf	Homologous_superfamily
IPR036274	HR1_rpt_sf	Homologous_superfamily
IPR038499	BRO1_sf	Homologous_superfamily
IPR047138	RHPN1_2	Family
IPR047902	RHPN2_BRO1	Domain
IPR049603	Rhophilin-2_HR1	Domain

Pfam: PF02185, PF03097

UniProt features (46 total): sequence conflict 25, strand 5, domain 3, mutagenesis site 3, helix 3, sequence variant 2, chain 1, region of interest 1, turn 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2VSV	X-RAY DIFFRACTION	1.82

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IUC4-F1	82.26	0.63

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 (1): 655

Mutagenesis-validated functional residues (3):

Position	Phenotype
518	does not induce actin disassembly but still interacts with rhoa; when associated with a-526 and a-527.
526–527	does not induce actin disassembly but still interacts with rhoa; when associated with a-518.
58–59	abolishes interaction with rhoa.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5666185	RHO GTPases Activate Rhotekin and Rhophilins
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle

MSigDB gene sets: 149 (showing top): GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BUNDLE_ASSEMBLY, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION, GOBP_RENAL_FILTRATION, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_RENAL_SYSTEM_PROCESS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN

GO Biological Process (3): glomerular filtration (GO:0003094), signal transduction (GO:0007165), negative regulation of stress fiber assembly (GO:0051497)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): cytosol (GO:0005829), plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	2
RHO GTPase Effectors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
renal filtration	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
negative regulation of actin filament bundle assembly	1
stress fiber assembly	1
regulation of stress fiber assembly	1
binding	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

977 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RHPN2	POLD1	P28340	696
RHPN2	RHOB	P01121	633
RHPN2	RHOA	P06749	613
RHPN2	EIF3H	O15372	545
RHPN2	CYRIA	Q9H0Q0	540
RHPN2	MYNN	Q9NPC7	517
RHPN2	BROX	Q5VW32	415
RHPN2	PEBP4	Q96S96	412
RHPN2	KLF6	Q99612	411
RHPN2	ZNF432	O94892	405
RHPN2	GTF2IRD1	Q9UHL9	399
RHPN2	ANAPC1	Q9H1A4	398
RHPN2	PRAMEF13	Q5VWM6	389
RHPN2	SMAD7	O15105	385
RHPN2	UTP23	Q9BRU9	378

IntAct

61 interactions, top by confidence:

A	B	Type	Score
BCL2L11	BCL2	psi-mi:“MI:0914”(association)	0.930
RHOC	RAP1GDS1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
N	RHPN2	psi-mi:“MI:0915”(physical association)	0.590
TRMO	STAT5B	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
ABCC4	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGEF16	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
ASIC3	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
ATP2B4	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
CYSLTR2	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
DGKK	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
DGKZ	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
DOCK4	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD4	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
FZD7	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
TAMALIN	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
E6	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
ORF putative E6	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNA5	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
KIR3DL3	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
MAP2K2	RHPN2	psi-mi:“MI:0407”(direct interaction)	0.440
RHPN2	PBK	psi-mi:“MI:0407”(direct interaction)	0.440
RHPN2	RALBP1	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (36): RHPN2 (Affinity Capture-MS), RHPN2 (Affinity Capture-MS), RHPN2 (Affinity Capture-MS), RHPN2 (Affinity Capture-MS), RHPN2 (Affinity Capture-RNA), RHPN2 (Affinity Capture-MS), RHPN2 (Affinity Capture-MS), RHPN2 (Proximity Label-MS), RHPN2 (Proximity Label-MS), RHPN2 (Two-hybrid), RHPN2 (Affinity Capture-MS), RHOB (Two-hybrid), RHPN2 (Affinity Capture-Western), RHPN2 (Affinity Capture-MS), RHPN2 (Affinity Capture-MS)

ESM2 similar proteins: A2A3N6, A2AP18, A3KGF7, A5D6R3, A6QQP7, B0R0W9, E7F9T0, F1LYQ8, F1P065, F8VPU2, O00329, O35904, O75038, O75923, O88763, O89040, P08487, P10686, P13217, P19174, P51432, Q00722, Q01970, Q15111, Q15283, Q1RML2, Q24087, Q2VRL0, Q3USB7, Q4KWH5, Q4KWH8, Q5D891, Q5FX52, Q5M7N9, Q5RAB8, Q62077, Q62688, Q62711, Q642T7, Q66K14

Diamond homologs: A4FUC9, A8MT19, C8V212, F4HXZ1, P0CM44, P0CM45, Q4IBS9, Q4PHA8, Q4X0Z5, Q61085, Q63ZR5, Q6BRL3, Q6CGJ5, Q6DJJ6, Q6PB44, Q6TNR1, Q7SAN9, Q8BWR8, Q8HXG3, Q8IUC4, Q8T7K0, Q8TCX5, Q9H3S7, Q9QZA2, Q5KU05, A4D2P6, A5PKA5, O08774, O13783, O14924, O15085, P34552, P48582, P49796, P49797, Q0QWG9, Q28619, Q3SX40, Q3T0X8, Q3UHD6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 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	6	99.3×	3e-09
Activation of BH3-only proteins	7	75.6×	9e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	73.0×	2e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	73.0×	2e-07
RHO GTPases activate PKNs	7	48.3×	1e-08
Intrinsic Pathway for Apoptosis	7	44.6×	1e-08
FOXO-mediated transcription	5	36.5×	7e-06
Apoptosis	7	25.6×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
small GTPase-mediated signal transduction	5	15.0×	5e-03
transmembrane transport	5	13.8×	6e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 3 cancer types — BRCA, LUAD, LUSC.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	80
Likely benign	9
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1990 predictions. Top by Δscore:

Variant	Effect	Δscore
19:32980252:TTATG:T	acceptor_gain	1.0000
19:32980253:TATG:T	acceptor_gain	1.0000
19:32980254:ATG:A	acceptor_gain	1.0000
19:32980255:TG:T	acceptor_gain	1.0000
19:32980257:C:CC	acceptor_gain	1.0000
19:32980263:A:C	acceptor_gain	1.0000
19:32990508:GCTCA:G	donor_loss	1.0000
19:32990510:TCA:T	donor_loss	1.0000
19:32990511:CACCA:C	donor_loss	1.0000
19:32990512:A:AC	donor_gain	1.0000
19:32990512:ACC:A	donor_loss	1.0000
19:32990513:C:CA	donor_loss	1.0000
19:32990513:C:CC	donor_gain	1.0000
19:32990543:CGA:C	donor_gain	1.0000
19:32990666:CCAC:C	acceptor_gain	1.0000
19:32990667:CAC:C	acceptor_gain	1.0000
19:32990667:CACC:C	acceptor_gain	1.0000
19:32990668:AC:A	acceptor_gain	1.0000
19:32990669:CC:C	acceptor_gain	1.0000
19:32990670:C:CC	acceptor_gain	1.0000
19:32991949:C:CT	acceptor_gain	1.0000
19:32991950:G:T	acceptor_gain	1.0000
19:32991969:CCTT:C	acceptor_gain	1.0000
19:32991972:T:C	acceptor_gain	1.0000
19:32996022:TCA:T	donor_loss	1.0000
19:32996023:CACC:C	donor_loss	1.0000
19:32996023:CACCA:C	donor_gain	1.0000
19:32996024:A:AC	donor_gain	1.0000
19:32996024:AC:A	donor_gain	1.0000
19:32996024:ACC:A	donor_loss	1.0000

AlphaMissense

4501 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:33008120:A:C	S218R	0.999
19:33008120:A:T	S218R	0.999
19:33008122:T:G	S218R	0.999
19:33011680:A:G	W198R	0.999
19:33011680:A:T	W198R	0.999
19:33012651:C:G	R155T	0.999
19:33021607:C:A	K118N	0.999
19:33021607:C:G	K118N	0.999
19:33002331:A:G	W341R	0.998
19:33002331:A:T	W341R	0.998
19:33002957:A:C	S268R	0.998
19:33002957:A:T	S268R	0.998
19:33002959:T:G	S268R	0.998
19:33008108:G:C	N222K	0.998
19:33008108:G:T	N222K	0.998
19:33012650:T:A	R155S	0.998
19:33012650:T:G	R155S	0.998
19:33012663:A:G	L151P	0.998
19:33026588:A:G	L77P	0.998
19:33044255:A:G	L60P	0.998
19:33002985:A:G	L259P	0.997
19:33011721:C:G	R184P	0.997
19:33011773:C:A	G167W	0.997
19:33012651:C:A	R155I	0.997
19:33021609:T:C	K118E	0.997
19:33026567:A:G	L84P	0.997
19:33044265:C:G	A57P	0.997
19:33044314:T:A	R40S	0.997
19:33044314:T:G	R40S	0.997
19:32991968:C:T	G500D	0.996

dbSNP variants (sampled 300 via entrez): RS1000061065 (19:33058705 G>A,C), RS1000155298 (19:33043130 T>G), RS1000182262 (19:32984048 A>C), RS1000202682 (19:33019052 G>A), RS1000237503 (19:33046238 T>C), RS1000266557 (19:33003958 T>C), RS1000299450 (19:33036186 A>T), RS1000352356 (19:33035922 C>G), RS1000386549 (19:33020822 A>G), RS1000388968 (19:33064404 C>T), RS1000396692 (19:33040481 G>A), RS1000406648 (19:33042261 A>G,T), RS1000460271 (19:33046430 T>A), RS1000466276 (19:33036213 A>G), RS1000529992 (19:32991369 G>A)

Disease associations

OMIM: gene MIM:617932 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000270_2	Colorectal cancer	5.000000e-09
GCST001762_259	Obesity-related traits	3.000000e-06
GCST002411_4	Colorectal cancer	7.000000e-08
GCST002454_3	Colorectal cancer	3.000000e-06
GCST004351_10	Bone ultrasound measurement (broadband ultrasound attenuation)	8.000000e-08
GCST005795_9	Femoral neck bone mineral density	3.000000e-08
GCST005796_32	Lumbar spine bone mineral density	3.000000e-11
GCST006288_372	Heel bone mineral density	1.000000e-20
GCST006288_373	Heel bone mineral density	7.000000e-36
GCST006288_672	Heel bone mineral density	3.000000e-43
GCST006288_673	Heel bone mineral density	2.000000e-79
GCST006288_72	Heel bone mineral density	4.000000e-27
GCST006288_73	Heel bone mineral density	7.000000e-48
GCST006976_80	Macular thickness	2.000000e-09
GCST006979_676	Heel bone mineral density	1.000000e-25
GCST006979_677	Heel bone mineral density	2.000000e-111
GCST006979_744	Heel bone mineral density	1.000000e-10
GCST007552_25	Colorectal cancer	1.000000e-07
GCST007856_50	Colorectal cancer or advanced adenoma	4.000000e-23
GCST009462_1	Optic disc size	2.000000e-08
GCST009869_65	Colorectal cancer	9.000000e-09
GCST010703_314	Brain morphology (MOSTest)	4.000000e-23
GCST012337_16	Nonsyndromic cleft lip with or without cleft palate	1.000000e-07
GCST90011900_162	Serum alkaline phosphatase levels	2.000000e-25
GCST90013406_104	Liver enzyme levels (alkaline phosphatase)	4.000000e-43
GCST90013407_8	Liver enzyme levels (gamma-glutamyl transferase)	1.000000e-32

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0004514	bone quantitative ultrasound measurement
EFO:0007785	femoral neck bone mineral density
EFO:0007701	spine bone mineral density
EFO:0009270	heel bone mineral density
EFO:0004346	neuroimaging measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	5
entinostat	increases expression, affects cotreatment	2
Calcitriol	increases expression	2
Nickel	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	decreases expression, increases expression	2
methylmercuric chloride	decreases expression	1
pirinixic acid	increases expression, affects binding, increases activity	1
sodium arsenate	increases abundance, increases expression	1
sodium arsenite	decreases expression	1
nickel sulfate	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Leflunomide	increases expression	1
Arsenic	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Cytarabine	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Lead	affects expression	1
Tretinoin	decreases expression	1
Triclosan	increases expression	1
Urethane	increases expression	1
Zinc	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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