ARHGAP44

Summary

ARHGAP44 (Rho GTPase activating protein 44, HGNC:29096) is a protein-coding gene on chromosome 17p12, encoding Rho GTPase-activating protein 44 (Q17R89). GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases.

Enables phospholipid binding activity. Predicted to be involved in negative regulation of Rac protein signal transduction; regulation of actin cytoskeleton organization; and regulation of plasma membrane bounded cell projection organization. Located in leading edge membrane. Implicated in acquired immunodeficiency syndrome and skin melanoma. Biomarker of hepatocellular carcinoma and lung carcinoma.

Source: NCBI Gene 9912 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 116 total — 1 likely-pathogenic
• MANE Select transcript: NM_014859

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29096
Approved symbol	ARHGAP44
Name	Rho GTPase activating protein 44
Location	17p12
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0672, RICH-2, RICH2
Ensembl gene	ENSG00000006740
Ensembl biotype	protein_coding
OMIM	617716
Entrez	9912

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 9 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000262444, ENST00000340825, ENST00000379672, ENST00000538915, ENST00000544416, ENST00000578087, ENST00000578442, ENST00000580768, ENST00000581437, ENST00000583608, ENST00000584974, ENST00000860012, ENST00000860013, ENST00000860014, ENST00000860015

RefSeq mRNA: 5 — MANE Select: NM_014859 NM_001321164, NM_001321166, NM_001321167, NM_001321168, NM_014859

CCDS: CCDS45616, CCDS82076, CCDS82077

Canonical transcript exons

ENST00000379672 — 21 exons

Exon	Start	End
ENSE00001426599	12990032	12991643
ENSE00002353174	12973302	12973319
ENSE00002417510	12928929	12929046
ENSE00003468886	12894940	12894979
ENSE00003486366	12944069	12944196
ENSE00003511129	12941056	12941124
ENSE00003523564	12952501	12952581
ENSE00003526037	12908897	12908973
ENSE00003533102	12919755	12919831
ENSE00003533983	12949140	12949251
ENSE00003543719	12949649	12949730
ENSE00003551773	12980058	12980233
ENSE00003573592	12958717	12958897
ENSE00003586030	12943588	12943669
ENSE00003591915	12915900	12916011
ENSE00003609717	12956655	12956746
ENSE00003623166	12955867	12955980
ENSE00003677547	12984531	12984908
ENSE00003684794	12896407	12896511
ENSE00003788290	12974089	12974310
ENSE00003843036	12789498	12789891

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 96.40.

FANTOM5 (CAGE): breadth broad, TPM avg 4.2047 / max 100.5635, expressed in 881 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159622	3.9050	857
159623	0.2120	96
159632	0.0737	28
159630	0.0140	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	96.40	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.60	gold quality
middle temporal gyrus	UBERON:0002771	92.71	gold quality
buccal mucosa cell	CL:0002336	92.13	gold quality
germinal epithelium of ovary	UBERON:0001304	91.84	gold quality
primary visual cortex	UBERON:0002436	91.58	gold quality
cerebellar cortex	UBERON:0002129	91.29	gold quality
cerebellar hemisphere	UBERON:0002245	91.28	gold quality
prefrontal cortex	UBERON:0000451	91.11	gold quality
cerebellum	UBERON:0002037	91.07	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.07	gold quality
superior frontal gyrus	UBERON:0002661	90.93	gold quality
postcentral gyrus	UBERON:0002581	90.61	gold quality
pons	UBERON:0000988	90.34	gold quality
mucosa of transverse colon	UBERON:0004991	90.27	gold quality
colonic mucosa	UBERON:0000317	89.91	gold quality
parietal lobe	UBERON:0001872	89.90	gold quality
frontal cortex	UBERON:0001870	89.71	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.67	gold quality
occipital lobe	UBERON:0002021	89.33	gold quality
entorhinal cortex	UBERON:0002728	89.09	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.01	gold quality
neocortex	UBERON:0001950	89.00	gold quality
right frontal lobe	UBERON:0002810	88.78	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.72	gold quality
cerebral cortex	UBERON:0000956	88.60	gold quality
CA1 field of hippocampus	UBERON:0003881	88.51	gold quality
orbitofrontal cortex	UBERON:0004167	88.14	gold quality
endothelial cell	CL:0000115	87.75	gold quality
cingulate cortex	UBERON:0003027	87.57	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	59.43
E-ANND-3	yes	7.04
E-CURD-11	no	9.41
E-MTAB-5061	no	3.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

86 targeting ARHGAP44, 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-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-98-3P	100.00	74.08	3907
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-137-3P	99.87	74.74	2401
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929

Literature-anchored findings (GeneRIF, showing 9)

• Demonstrates that the RhoGAP domains of RICH-1 and RICH-2 can catalyze GTP hydrolysis of both Rac1 and Cdc42, but not of RhoA. (PMID:11431473)
• Knocking down expression of RICH 2 causes loss of the apical actin network and apical microvilli, an increase in actin bundles at the basal surface, and a reduction in cell height. (RICH 2 protein) (PMID:19273615)
• Besides the already known chromosome 6 associations, the analysis of low-frequency single nucleotide polymorphisms brought up a new association in the RICH2 gene for progression to AIDS. (PMID:21107268)
• RICH2 is implicated in viremic control of HIV-1 in black South African individuals. (PMID:28069446)
• Rho GTPase activating protein 44 (ARHGAP44) expression is lower in lung carcinoma compared with normal tissues. The GTP hydrolysis activity on cell division cycle 42 (Cdc42) and the expression level of ARHGAP44 are negatively correlated with cell migration and invasion. (PMID:28527113)
• Rho GTPase-activating protein RICH2 (RICH2) is downregulated in hepatocellular carcinoma (HCC). (PMID:31136984)
• CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection. (PMID:33223223)
• RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy. (PMID:37926169)
• ARHGAP44-mediated regulation of the p53/C-myc/Cyclin D1 pathway in modulating the malignant biological behavior of osteosarcoma cells. (PMID:38031136)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgap44a	ENSDARG00000102424
danio_rerio	arhgap44b	ENSDARG00000104549
mus_musculus	Arhgap44	ENSMUSG00000033389
rattus_norvegicus	Arhgap44	ENSRNOG00000003603
drosophila_melanogaster	RhoGAP92B	FBGN0038747
caenorhabditis_elegans		WBGENE00021324

Paralogs (2): SH3BP1 (ENSG00000100092), ARHGAP17 (ENSG00000140750)

Protein

Protein identifiers

Rho GTPase-activating protein 44 — Q17R89 (reviewed: Q17R89)

Alternative names: NPC-A-10, Rho-type GTPase-activating protein RICH2, RhoGAP interacting with CIP4 homologs protein 2

All UniProt accessions (6): Q17R89, E7ERK8, F5H6L3, J3KRS3, J3QQU7, K7EK86

UniProt curated annotations — full annotation on UniProt →

Function. GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. Acts as a GAP at least for CDC42 and RAC1. In neurons, is involved in dendritic spine formation and synaptic plasticity in a specific RAC1-GAP activity. Limits the initiation of exploratory dendritic filopodia. Recruited to actin-patches that seed filopodia, binds specifically to plasma membrane sections that are deformed inward by acto-myosin mediated contractile forces. Acts through GAP activity on RAC1 to reduce actin polymerization necessary for filopodia formation. In association with SHANK3, promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation.

Subunit / interactions. Interacts with BST2 (via cytoplasmic domain). Interacts (probably via PDZ-binding motif) with SHANK3 (via PDZ domain); the interaction takes place in dendritic spines and promotes GRIA1 exocytosis.

Subcellular location. Cell projection. Dendritic spine. Recycling endosome. Presynapse. Dendrite.

Tissue specificity. Highly expressed in brain. Expressed at weak level in other tissues.

Domain organisation. Rho-GAP domain is required to promote GRIA1 exocytosis from recycling endosomes. Rho-GAP and BAR domains are necessary for the control of long-term potentiation in hippocampal neurons. In dendrites, BAR domain mediates the recruitment to patches where plasma membrane is deformed by acto-myosin mediated contractile forces.

Isoforms (3)

UniProt ID	Names	Canonical?
Q17R89-1	1	yes
Q17R89-2	2
Q17R89-3	3

RefSeq proteins (5): NP_001308093, NP_001308095, NP_001308096, NP_001308097, NP_055674* (*=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 (26 total): compositionally biased region 7, region of interest 4, splice variant 3, sequence conflict 3, domain 2, modified residue 2, short sequence motif 2, chain 1, site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q17R89-F1	66.39	0.41

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): 291 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (2): 493, 809

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle

MSigDB gene sets: 245 (showing top): GOBP_DENDRITE_DEVELOPMENT, chr17p12, MYAATNNNNNNNGGC_UNKNOWN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, LHX3_01, GOMF_GTPASE_BINDING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5

GO Biological Process (12): exocytosis (GO:0006887), signal transduction (GO:0007165), regulation of actin cytoskeleton organization (GO:0032956), negative regulation of Rac protein signal transduction (GO:0035021), regulation of GTPase activity (GO:0043087), modulation of chemical synaptic transmission (GO:0050804), regulation of small GTPase mediated signal transduction (GO:0051056), negative regulation of filopodium assembly (GO:0051490), regulation of dendritic spine morphogenesis (GO:0061001), modification of postsynaptic structure (GO:0099010), regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane (GO:0099152), positive regulation of GTPase activity (GO:0043547)

GO Molecular Function (4): GTPase activator activity (GO:0005096), phospholipid binding (GO:0005543), small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (15): cytosol (GO:0005829), plasma membrane (GO:0005886), postsynaptic density (GO:0014069), dendrite (GO:0030425), leading edge membrane (GO:0031256), dendritic spine (GO:0043197), presynaptic active zone (GO:0048786), recycling endosome (GO:0055037), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), endosome (GO:0005768), cell projection (GO:0042995), synapse (GO:0045202), presynapse (GO:0098793), postsynapse (GO:0098794)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	3

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
GTPase activity	3
synapse	3
vesicle-mediated transport	1
secretion by cell	1
vesicle fusion to plasma membrane	1
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
regulation of Rac protein signal transduction	1
negative regulation of small GTPase mediated signal transduction	1
regulation of hydrolase activity	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
filopodium assembly	1
regulation of filopodium assembly	1
negative regulation of plasma membrane bounded cell projection assembly	1
regulation of neuron projection development	1
regulation of anatomical structure morphogenesis	1
dendritic spine morphogenesis	1
regulation of postsynapse organization	1
modification of synaptic structure	1
regulation of biological quality	1
neurotransmitter receptor transport, endosome to postsynaptic membrane	1
regulation of protein localization to synapse	1
regulation of receptor localization to synapse	1
regulation of endosome to plasma membrane protein transport	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
enzyme activator activity	1
GTPase regulator activity	1
lipid binding	1

Protein interactions and networks

STRING

658 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP44	BST2	Q10589	679
ARHGAP44	SHANK3	Q9BYB0	659
ARHGAP44	TRIP10	Q15642	601
ARHGAP44	ARHGAP1	Q07960	506
ARHGAP44	ARHGEF37	A1IGU5	492
ARHGAP44	MAGEA6	P43360	472
ARHGAP44	STARD13	Q9Y3M8	447
ARHGAP44	DNMBP	Q6XZF7	446
ARHGAP44	DLGAP1	P78335	446
ARHGAP44	FCHSD1	Q86WN1	420
ARHGAP44	CDRT15	Q96T59	418
ARHGAP44	CHST2	Q9Y4C5	416
ARHGAP44	MAGEA3	P43357	416
ARHGAP44	BAIAP2	Q9UQB8	379
ARHGAP44	MTSS2	Q765P7	372

IntAct

16 interactions, top by confidence:

A	B	Type	Score
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
ARHGAP44	VPS26A	psi-mi:“MI:0914”(association)	0.530
CASP5	CASP4	psi-mi:“MI:0914”(association)	0.530
CASP5	ARHGAP44	psi-mi:“MI:0914”(association)	0.530
NHERF2	ACTN4	psi-mi:“MI:0914”(association)	0.510
CASP4	ARHGAP44	psi-mi:“MI:0915”(physical association)	0.500
ARHGAP44	SHANK3	psi-mi:“MI:0915”(physical association)	0.370
ARHGEF6	VPS37C	psi-mi:“MI:0914”(association)	0.350
ARHGAP17	VCL	psi-mi:“MI:0914”(association)	0.350
CASP4	NME2P1	psi-mi:“MI:0914”(association)	0.350
PFKM	ARHGAP44	psi-mi:“MI:0914”(association)	0.350
ARHGAP44	NAA25	psi-mi:“MI:0914”(association)	0.350
ARHGAP44	NHERF2	psi-mi:“MI:0915”(physical association)	0.000
JPT1	ARHGAP44	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (55): ARHGAP44 (Two-hybrid), ARHGAP44 (Co-fractionation), ARHGAP17 (Affinity Capture-MS), FNBP1L (Affinity Capture-MS), SH3BP1 (Affinity Capture-MS), SH3KBP1 (Affinity Capture-MS), TRIP10 (Affinity Capture-MS), CD2AP (Affinity Capture-MS), ARHGAP44 (Affinity Capture-MS), PPP3CC (Affinity Capture-MS), WDTC1 (Affinity Capture-MS), VPS26A (Affinity Capture-MS), SLC9A3R2 (Affinity Capture-MS), ARHGAP44 (Affinity Capture-RNA), ARHGAP44 (Affinity Capture-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, A7YY57, A8WRJ2, B2RQE8, B5DFQ4, D3ZFJ3, F1LQX4, F1LXF1, O14559, O60890, O74360, O94466, P0CAX5, P11274, P15882, P30337, P34288, P46941, P52757, P55194, P81128, P83509, P97393, Q03070, Q08DP6, Q12979, Q13017, Q13459, Q15311, Q17QN0, Q17R89, Q20498, Q52LW3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ARHGAP44	“down-regulates activity”	RAC1	“gtpase-activating protein”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	88
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3235931	GRCh38/hg38 17p12(chr17:12453983-12791857)	Likely pathogenic

SpliceAI

4259 predictions. Top by Δscore:

Variant	Effect	Δscore
17:12789891:GGT:G	donor_loss	1.0000
17:12894934:TTTTA:T	acceptor_loss	1.0000
17:12894935:TTTAG:T	acceptor_loss	1.0000
17:12894936:TTA:T	acceptor_loss	1.0000
17:12894937:TAGG:T	acceptor_loss	1.0000
17:12894938:AG:A	acceptor_gain	1.0000
17:12894939:GG:G	acceptor_gain	1.0000
17:12896405:A:C	acceptor_loss	1.0000
17:12896507:GCTCC:G	donor_gain	1.0000
17:12896508:CTCC:C	donor_gain	1.0000
17:12896508:CTCCG:C	donor_loss	1.0000
17:12896511:CGTAA:C	donor_loss	1.0000
17:12896512:G:GG	donor_gain	1.0000
17:12896512:GT:G	donor_loss	1.0000
17:12896514:AAGT:A	donor_loss	1.0000
17:12915890:T:TA	acceptor_gain	1.0000
17:12915895:TACA:T	acceptor_loss	1.0000
17:12915898:AGG:A	acceptor_loss	1.0000
17:12915899:GGA:G	acceptor_gain	1.0000
17:12915899:GGAA:G	acceptor_gain	1.0000
17:12916011:GG:G	donor_loss	1.0000
17:12916012:G:GC	donor_loss	1.0000
17:12916013:T:TC	donor_loss	1.0000
17:12919827:ACCAG:A	donor_loss	1.0000
17:12919828:CCAGG:C	donor_loss	1.0000
17:12919829:CAG:C	donor_loss	1.0000
17:12919830:AG:A	donor_loss	1.0000
17:12919831:GGT:G	donor_loss	1.0000
17:12919832:G:GA	donor_loss	1.0000
17:12919833:T:A	donor_loss	1.0000

AlphaMissense

5330 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:12789852:T:C	F5S	1.000
17:12789852:T:G	F5C	1.000
17:12789857:C:A	R7S	1.000
17:12789857:C:T	R7C	1.000
17:12789858:G:C	R7P	1.000
17:12789861:T:C	M8T	1.000
17:12789863:C:A	R9S	1.000
17:12789870:T:C	L11P	1.000
17:12789873:C:A	A12D	1.000
17:12894960:T:C	L25S	1.000
17:12894972:T:C	L29P	1.000
17:12896417:G:C	R35P	1.000
17:12896420:T:C	L36P	1.000
17:12896455:A:G	K48E	1.000
17:12896457:G:C	K48N	1.000
17:12896457:G:T	K48N	1.000
17:12896462:T:C	L50P	1.000
17:12915908:T:C	L95P	1.000
17:12915938:T:C	L105P	1.000
17:12915950:T:C	L109P	1.000
17:12919783:G:C	R139T	1.000
17:12919783:G:T	R139M	1.000
17:12919784:G:C	R139S	1.000
17:12919784:G:T	R139S	1.000
17:12919792:T:C	L142S	1.000
17:12919807:T:C	L147P	1.000
17:12919831:G:T	R155M	1.000
17:12941063:T:C	L197P	1.000
17:12941068:G:C	A199P	1.000
17:12943589:T:C	L218P	1.000

dbSNP variants (sampled 300 via entrez): RS1000007281 (17:12889556 C>T), RS1000012295 (17:12809001 G>A), RS1000014898 (17:12926819 A>G), RS1000042668 (17:12849372 G>A,T), RS1000043624 (17:12809377 T>C), RS1000062185 (17:12971489 A>G), RS1000076501 (17:12919096 T>G), RS1000086798 (17:12933904 G>A), RS1000101984 (17:12827262 C>A,G), RS1000122206 (17:12895426 A>G), RS1000135510 (17:12845804 C>T), RS1000137472 (17:12843370 G>A), RS1000143725 (17:12792070 C>T), RS1000151425 (17:12905539 G>A), RS1000159987 (17:12840253 G>A,T)

Disease associations

OMIM: gene MIM:617716 | disease phenotypes: MIM:618719

GenCC curated gene-disease

Mondo (1): megabladder, congenital (MONDO:0032879)

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001519_13	Economic and political preferences	9.000000e-06
GCST002001_6	Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)	3.000000e-07
GCST003783_14	Multiple system atrophy (pathologically confirmed)	8.000000e-06
GCST003998_22	Joint mobility (Beighton score)	5.000000e-07
GCST008156_71	Hip circumference adjusted for BMI	5.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004827	economic and social preference
EFO:0005260	response to antimicrotubule agent
EFO:0007905	joint hypermobility measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation, affects methylation	5
perfluorooctane sulfonic acid	increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
nickel sulfate	increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Cytarabine	decreases expression	1
Doxorubicin	decreases expression	1
Methapyrilene	increases methylation	1
Methylcholanthrene	increases reaction, affects binding	1
Nickel	decreases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Valproic Acid	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Oxyquinoline	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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