ARHGAP17

Summary

ARHGAP17 (Rho GTPase activating protein 17, HGNC:18239) is a protein-coding gene on chromosome 16p12.1, encoding Rho GTPase-activating protein 17 (Q68EM7). Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells.

RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).

Source: NCBI Gene 55114 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 134 total — 1 pathogenic
• MANE Select transcript: NM_001006634

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18239
Approved symbol	ARHGAP17
Name	Rho GTPase activating protein 17
Location	16p12.1
Locus type	gene with protein product
Status	Approved
Aliases	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15
Ensembl gene	ENSG00000140750
Ensembl biotype	protein_coding
OMIM	608293
Entrez	55114

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 9 protein_coding, 9 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000289968, ENST00000303665, ENST00000455311, ENST00000570320, ENST00000570841, ENST00000571406, ENST00000571480, ENST00000571575, ENST00000571843, ENST00000572314, ENST00000573449, ENST00000573625, ENST00000573703, ENST00000573765, ENST00000575283, ENST00000575412, ENST00000575447, ENST00000575656, ENST00000575975, ENST00000576387, ENST00000886926, ENST00000886927

RefSeq mRNA: 2 — MANE Select: NM_001006634 NM_001006634, NM_018054

CCDS: CCDS32408, CCDS32409

Canonical transcript exons

ENST00000289968 — 20 exons

Exon	Start	End
ENSE00002645145	24919389	24920260
ENSE00003499303	24959911	24959979
ENSE00003500973	24949404	24949484
ENSE00003501743	24943771	24943862
ENSE00003508576	24977215	24977319
ENSE00003509656	24970507	24970580
ENSE00003524277	24939364	24939597
ENSE00003556504	24952931	24953042
ENSE00003582713	24964197	24964308
ENSE00003587628	24935470	24935639
ENSE00003599487	24952289	24952370
ENSE00003617324	24968661	24968772
ENSE00003618222	24959671	24959752
ENSE00003649172	24954603	24954730
ENSE00003651534	24978966	24979005
ENSE00003669843	24941987	24942143
ENSE00003680533	24947482	24947595
ENSE00003690660	24930784	24931404
ENSE00003784894	24968351	24968427
ENSE00003850028	25015209	25015369

Expression profiles

Bgee: expression breadth ubiquitous, 141 present calls, max score 97.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.5315 / max 219.2882, expressed in 1811 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156800	23.3698	1811
156799	0.4453	166
156794	0.3756	167
156792	0.3407	149

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
spleen	UBERON:0002106	97.27	gold quality
corpus callosum	UBERON:0002336	96.51	gold quality
subcutaneous adipose tissue	UBERON:0002190	96.21	gold quality
lymph node	UBERON:0000029	95.98	gold quality
adrenal tissue	UBERON:0018303	95.97	gold quality
popliteal artery	UBERON:0002250	95.90	gold quality
tibial artery	UBERON:0007610	95.89	gold quality
adipose tissue	UBERON:0001013	95.88	gold quality
sural nerve	UBERON:0015488	95.82	gold quality
omental fat pad	UBERON:0010414	95.56	gold quality
apex of heart	UBERON:0002098	95.46	gold quality
mucosa of transverse colon	UBERON:0004991	95.43	gold quality
leukocyte	CL:0000738	95.30	gold quality
monocyte	CL:0000576	95.26	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.24	gold quality
colonic epithelium	UBERON:0000397	95.21	gold quality
tonsil	UBERON:0002372	95.16	gold quality
granulocyte	CL:0000094	95.02	gold quality
right adrenal gland cortex	UBERON:0035827	95.02	gold quality
right adrenal gland	UBERON:0001233	94.99	gold quality
right coronary artery	UBERON:0001625	94.98	gold quality
left adrenal gland cortex	UBERON:0035825	94.96	gold quality
placenta	UBERON:0001987	94.94	gold quality
tibial nerve	UBERON:0001323	94.88	gold quality
small intestine	UBERON:0002108	94.88	gold quality
adrenal gland	UBERON:0002369	94.87	gold quality
adenohypophysis	UBERON:0002196	94.86	gold quality
thoracic mammary gland	UBERON:0005200	94.84	gold quality
aorta	UBERON:0000947	94.81	gold quality
left adrenal gland	UBERON:0001234	94.81	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.61
E-MTAB-6678	yes	4.77
E-MTAB-6075	no	212.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting ARHGAP17, 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-1277-5P	100.00	73.95	5056
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-5004-3P	99.54	68.27	1371

Literature-anchored findings (GeneRIF, showing 9)

• We propose that Rich1 and Amot maintain TJ integrity by the coordinate regulation of Cdc42 and by linking specific components of the TJ to intracellular protein trafficking. (PMID:16678097)
• Rich1 negatively regulates the epithelial cell cycle, proliferation and adhesion by CDC42/RAC1-PAK1-Erk1/2 pathway. (PMID:26004135)
• show that ARHGAP17 binds to the actin-regulating CIP4 protein in platelets and that Ser-702 phosphorylation interferes with this interaction (PMID:26507661)
• In vitro analysis demonstrated that ARHGAP17 overexpression inhibited cell growth and invasion of HCT-8 and HCT-116 cells. (PMID:29730655)
• The bevacizumab-independent VEGF/NRP1/ARHGAP17/Cdc42 regulatory network plays important roles in malignant behavior of breast cancer. (PMID:29971782)
• ARHGAP17 functions as a tumor suppressor in cervical cancer that suppresses tumor growth, at least partly, through inhibition of PI3K/AKT signaling and up-regulation of P21 and P27 expression. (PMID:30641218)
• ARHGAP17 inhibits pathological cyclic strain-induced apoptosis in human periodontal ligament fibroblasts via Rac1/Cdc42. (PMID:32391922)
• ARHGAP17 enhances 5-Fluorouracil-induced apoptosis in colon cancer cells by suppressing Rac1. (PMID:35293764)
• ARHGAP17 regulates the spatiotemporal activity of Cdc42 at invadopodia. (PMID:36571786)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgap17a	ENSDARG00000020488
danio_rerio	arhgap17b	ENSDARG00000062263
danio_rerio	si:ch211-246e12.3	ENSDARG00000092455
mus_musculus	Arhgap17	ENSMUSG00000030766
rattus_norvegicus	Arhgap17	ENSRNOG00000013836
drosophila_melanogaster	RhoGAP92B	FBGN0038747
caenorhabditis_elegans		WBGENE00021324

Paralogs (2): ARHGAP44 (ENSG00000006740), SH3BP1 (ENSG00000100092)

Protein

Protein identifiers

Rho GTPase-activating protein 17 — Q68EM7 (reviewed: Q68EM7)

Alternative names: Rho-type GTPase-activating protein 17, RhoGAP interacting with CIP4 homologs protein 1

All UniProt accessions (8): Q68EM7, C9IZD3, I3L1S9, I3L3P1, I3L460, I3L4P0, I3L4P6, I3L4Y5

UniProt curated annotations — full annotation on UniProt →

Function. Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the Ca(2+)-dependent regulation of exocytosis, possibly by catalyzing GTPase activity of Rho family proteins and by inducing the reorganization of the cortical actin filaments. Acts as a GTPase activator in vitro for RAC1.

Subunit / interactions. Component of a complex whose core is composed of ARHGAP17, AMOT, PALS1, PATJ and PARD3/PAR3. Interacts with NHERF1, FNBP1, TRIP10, CAPZA (CAPZA1, CAPZA2 or CAPZA3), CAPZB, CD2AP and SH3KBP1/CIN85.

Subcellular location. Membrane. Cytoplasm. Cell junction. Tight junction.

Tissue specificity. Ubiquitously expressed. Expressed at higher level in heart and placenta.

Domain organisation. The BAR domain mediates the interaction with the coiled coil domain of AMOT, leading to its recruitment to tight junctions.

Isoforms (7)

UniProt ID	Names	Canonical?
Q68EM7-1	1	yes
Q68EM7-2	2
Q68EM7-3	3
Q68EM7-4	4, RICH1B
Q68EM7-5	5
Q68EM7-6	6
Q68EM7-7	7

RefSeq proteins (2): NP_001006635, NP_060524 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR004148	BAR_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR047165	RHG17/44/SH3BP1-like	Family

Pfam: PF00620, PF03114

UniProt features (46 total): compositionally biased region 12, modified residue 11, splice variant 8, sequence conflict 7, domain 2, region of interest 2, chain 1, site 1, mutagenesis site 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q68EM7-F1	65.82	0.39

Functional residue map

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

Catalytic / active sites (1): 288 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (11): 484, 575, 679, 682, 702, 704, 753, 757, 759, 762, 763

Mutagenesis-validated functional residues (1):

Position	Phenotype
288	loss of function; leading to defects in tight junction maintenance.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013405	RHOD GTPase cycle
R-HSA-9013406	RHOQ GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle

MSigDB gene sets: 165 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_RAC_PROTEIN_SIGNAL_TRANSDUCTION, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, DOUGLAS_BMI1_TARGETS_UP, CUI_TCF21_TARGETS_2_DN, GOCC_CELL_CELL_JUNCTION, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION, GOBP_RAC_PROTEIN_SIGNAL_TRANSDUCTION

GO Biological Process (5): signal transduction (GO:0007165), regulation of actin cytoskeleton organization (GO:0032956), regulation of Rac protein signal transduction (GO:0035020), negative regulation of small GTPase mediated signal transduction (GO:0051058), positive regulation of GTPase activity (GO:0043547)

GO Molecular Function (3): GTPase activator activity (GO:0005096), SH3 domain binding (GO:0017124), protein binding (GO:0005515)

GO Cellular Component (6): cytosol (GO:0005829), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), cytoplasm (GO:0005737), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	6

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of small GTPase mediated signal transduction	2
GTPase activity	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
actin cytoskeleton organization	1
regulation of actin filament-based process	1
regulation of cytoskeleton organization	1
Rac protein signal transduction	1
small GTPase-mediated signal transduction	1
negative regulation of intracellular signal transduction	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
enzyme activator activity	1
GTPase regulator activity	1
protein domain specific binding	1
binding	1
cytoplasm	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
intracellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

800 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP17	AMOT	Q4VCS5	998
ARHGAP17	PATJ	Q8NI35	969
ARHGAP17	PALS1	Q8N3R9	899
ARHGAP17	TRIP10	Q15642	872
ARHGAP17	CDC42	P21181	815
ARHGAP17	PARD3	Q8TEW0	807
ARHGAP17	ALS2CL	Q60I27	636
ARHGAP17	ARHGAP1	Q07960	621
ARHGAP17	RHOA	P06749	609
ARHGAP17	ATXN2L	Q8WWM7	607
ARHGAP17	NHERF1	O14745	509
ARHGAP17	SPATA13	Q96N96	507
ARHGAP17	FGD1	P98174	503
ARHGAP17	TNK2	Q07912	494
ARHGAP17	NGEF	Q8N5V2	492

IntAct

188 interactions, top by confidence:

A	B	Type	Score
AMOT	NF2	psi-mi:“MI:0915”(physical association)	0.880
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ARHGAP17	SH3BP1	psi-mi:“MI:0915”(physical association)	0.710
ARHGAP17	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.690
ARHGAP17	DLG3	psi-mi:“MI:0407”(direct interaction)	0.690
DLG3	ARHGAP17	psi-mi:“MI:0407”(direct interaction)	0.690
SH3KBP1	USP27X	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
AMOT	NF2	psi-mi:“MI:0914”(association)	0.590
ARHGAP17	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.590
ARHGAP17	NHERF1	psi-mi:“MI:0407”(direct interaction)	0.590
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
ARHGAP17	TRIP10	psi-mi:“MI:0915”(physical association)	0.560
TRIP10	ARHGAP17	psi-mi:“MI:0915”(physical association)	0.560
CFAP337	ARHGAP17	psi-mi:“MI:0915”(physical association)	0.560
CFAP337	ARHGAP17	psi-mi:“MI:0914”(association)	0.560
ARHGAP17	AMOT	psi-mi:“MI:0407”(direct interaction)	0.540
ARHGAP44	VPS26A	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530

BioGRID (135): ARHGAP17 (Two-hybrid), ARHGAP17 (Affinity Capture-RNA), ARHGAP17 (Co-fractionation), ARHGAP17 (Co-fractionation), ARHGAP17 (Co-fractionation), ARHGAP17 (Co-fractionation), ARHGAP17 (Co-fractionation), ARHGAP17 (Co-fractionation), ARHGAP17 (Co-fractionation), ARPC2 (Co-fractionation), EIF4EBP2 (Co-fractionation), NLRP3 (Co-fractionation), OPA1 (Co-fractionation), ARHGAP17 (Affinity Capture-MS), ARHGAP17 (Proximity Label-MS)

ESM2 similar proteins: A0JPP1, A0JPQ7, A2VDN6, E6ZGB4, O75151, O75376, O88974, P0CH95, P22682, P55265, P55266, Q14919, Q15047, Q15459, Q17R89, Q2YDP3, Q3UIA2, Q3YEC7, Q4KKX4, Q4V7W5, Q5F3B1, Q5R6Y9, Q5SFM8, Q5U3K5, Q60974, Q61909, Q68EM7, Q6P949, Q6ZM86, Q80TJ7, Q86XZ4, Q8CFK2, Q8K1N4, Q8K4S7, Q8K4Z5, Q8N5Y2, Q8R3Y5, Q8VHI6, Q8VI24, Q92625

Diamond homologs: A0A0G2JTR4, A1A4S6, A2AB59, A2RUV4, A4IF90, A4II46, A6NI28, A6QNS3, A7E300, A7YY57, B2RQE8, B5DFQ4, B9VTT2, D3ZZN9, E9Q6X9, F1LQX4, O14559, O60890, O74360, O94466, P0CAX5, P11274, P15882, P30337, P34288, P40809, P46941, P52757, P97393, Q03070, Q07960, Q08DP6, Q12979, Q13017, Q13459, Q17QN0, Q17R89, Q53QZ3, Q54FG5, Q54TH9

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
PRKACA	“down-regulates activity”	ARHGAP17	phosphorylation
PKA	“down-regulates activity”	ARHGAP17	phosphorylation
PKC	“down-regulates activity”	ARHGAP17	phosphorylation
TRIP10	“down-regulates activity”	ARHGAP17	binding
ARHGAP17	“up-regulates activity”	RAC1	“guanine nucleotide exchange factor”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 136 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
Ras activation upon Ca2+ influx through NMDA receptor	5	31.4×	2e-05
Unblocking of NMDA receptors, glutamate binding and activation	5	29.9×	2e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	5	29.9×	2e-05
Assembly and cell surface presentation of NMDA receptors	10	27.9×	3e-10
Dopamine Neurotransmitter Release Cycle	5	27.3×	4e-05
Long-term potentiation	5	26.1×	4e-05
Neurexins and neuroligins	11	23.8×	3e-10
Protein-protein interactions at synapses	7	20.4×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	50.3×	7e-14
protein localization to synapse	6	36.2×	1e-06
receptor clustering	7	34.4×	3e-07
regulation of postsynaptic membrane neurotransmitter receptor levels	7	27.3×	9e-07
maintenance of blood-brain barrier	5	19.0×	4e-04
bicellular tight junction assembly	5	13.0×	2e-03
regulation of small GTPase mediated signal transduction	11	12.5×	3e-07
protein-containing complex assembly	12	10.8×	3e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	103
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	Pathogenic

SpliceAI

3371 predictions. Top by Δscore:

Variant	Effect	Δscore
16:24935464:GCTTA:G	donor_loss	1.0000
16:24935465:CTTAC:C	donor_loss	1.0000
16:24935466:TTAC:T	donor_loss	1.0000
16:24935467:TAC:T	donor_loss	1.0000
16:24935468:A:AT	donor_loss	1.0000
16:24935469:CCTC:C	donor_loss	1.0000
16:24935637:GGA:G	acceptor_gain	1.0000
16:24935640:C:CC	acceptor_gain	1.0000
16:24941982:CATAC:C	donor_loss	1.0000
16:24941984:TAC:T	donor_loss	1.0000
16:24941985:A:AC	donor_gain	1.0000
16:24941985:A:T	donor_loss	1.0000
16:24941986:C:A	donor_loss	1.0000
16:24941986:C:CC	donor_gain	1.0000
16:24941990:T:A	donor_gain	1.0000
16:24942139:CACCT:C	acceptor_gain	1.0000
16:24942140:ACCT:A	acceptor_gain	1.0000
16:24942141:CCT:C	acceptor_gain	1.0000
16:24942141:CCTC:C	acceptor_gain	1.0000
16:24942142:CT:C	acceptor_gain	1.0000
16:24942142:CTC:C	acceptor_gain	1.0000
16:24942143:TCT:T	acceptor_gain	1.0000
16:24942143:TCTG:T	acceptor_loss	1.0000
16:24942144:C:CA	acceptor_loss	1.0000
16:24942144:C:CC	acceptor_gain	1.0000
16:24942144:C:T	acceptor_gain	1.0000
16:24942145:T:C	acceptor_loss	1.0000
16:24943766:ATTAC:A	donor_loss	1.0000
16:24943767:TTACC:T	donor_loss	1.0000
16:24943768:TAC:T	donor_loss	1.0000

AlphaMissense

5759 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:24943782:A:G	F441S	1.000
16:24947512:C:T	G404D	1.000
16:24947513:C:G	G404R	1.000
16:24947518:A:T	V402E	1.000
16:24947521:A:C	I401S	1.000
16:24947521:A:T	I401N	1.000
16:24947524:G:T	A400E	1.000
16:24947525:C:G	A400P	1.000
16:24947529:G:C	N398K	1.000
16:24947529:G:T	N398K	1.000
16:24947531:T:C	N398D	1.000
16:24947541:C:A	M394I	1.000
16:24947541:C:G	M394I	1.000
16:24947541:C:T	M394I	1.000
16:24947542:A:C	M394R	1.000
16:24947542:A:G	M394T	1.000
16:24947542:A:T	M394K	1.000
16:24947547:A:C	N392K	1.000
16:24947547:A:T	N392K	1.000
16:24947569:A:G	L385P	1.000
16:24947578:A:G	L382P	1.000
16:24947580:G:C	F381L	1.000
16:24947580:G:T	F381L	1.000
16:24947581:A:G	F381S	1.000
16:24947582:A:G	F381L	1.000
16:24949409:G:C	N374K	1.000
16:24949409:G:T	N374K	1.000
16:24952305:A:G	W344R	1.000
16:24952305:A:T	W344R	1.000
16:24952331:A:G	L335S	1.000

dbSNP variants (sampled 300 via entrez): RS1000017761 (16:24967843 C>A), RS1000032767 (16:24988747 T>G), RS1000121285 (16:25010986 C>G,T), RS1000128145 (16:24947838 T>C), RS1000128933 (16:24975261 T>C,G), RS1000131510 (16:24944160 A>C), RS1000131834 (16:24987988 C>T), RS1000186566 (16:24971088 T>C), RS1000190053 (16:24927742 T>C,G), RS1000199927 (16:24927513 C>T), RS1000222670 (16:24971715 A>G), RS1000264648 (16:24942197 G>A), RS1000268226 (16:24999068 G>A), RS1000300088 (16:25004991 T>A,G), RS1000301446 (16:24936507 A>G)

Disease associations

OMIM: gene MIM:608293 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST010397_88	Gut microbiota (bacterial taxa, rank normal transformation method)	6.000000e-10
GCST90000025_88	Appendicular lean mass	1.000000e-24
GCST90000026_15	Appendicular lean mass	7.000000e-10
GCST90000027_42	Appendicular lean mass	5.000000e-17

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	increases expression, affects expression	2
Cadmium Chloride	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
arsenite	affects binding, decreases reaction	1
nickel sulfate	decreases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
motexafin gadolinium	decreases expression, affects cotreatment	1
clothianidin	increases expression	1
bisphenol S	decreases methylation	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Eugenol	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Oxazolone	decreases expression	1
Quercetin	increases expression	1
Ribonucleotides	affects binding	1

Clinical trials (associated diseases)

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