CYTH1

Summary

CYTH1 (cytohesin 1, HGNC:9501) is a protein-coding gene on chromosome 17q25.3, encoding Cytohesin-1 (Q15438). Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6.

The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9267 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 63 total — 1 pathogenic
• MANE Select transcript: NM_004762

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9501
Approved symbol	CYTH1
Name	cytohesin 1
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	B2-1, D17S811E, cytohesin-1
Ensembl gene	ENSG00000108669
Ensembl biotype	protein_coding
OMIM	182115
Entrez	9267

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000446868, ENST00000585509, ENST00000586043, ENST00000586175, ENST00000586299, ENST00000586430, ENST00000587308, ENST00000589296, ENST00000589297, ENST00000589768, ENST00000590300, ENST00000590775, ENST00000591095, ENST00000591455, ENST00000591574, ENST00000592497, ENST00000883953, ENST00000943665

RefSeq mRNA: 12 — MANE Select: NM_004762 NM_001292018, NM_001292019, NM_001365037, NM_001365038, NM_001365039, NM_001365040, NM_001365041, NM_001394676, NM_001394677, NM_001394678, NM_004762, NM_017456

CCDS: CCDS32754, CCDS42392, CCDS86644, CCDS92406

Canonical transcript exons

ENST00000446868 — 14 exons

Exon	Start	End
ENSE00000745793	78698820	78698968
ENSE00001287965	78674048	78676169
ENSE00002762238	78696007	78696009
ENSE00003533009	78709650	78709732
ENSE00003545359	78702122	78702240
ENSE00003580772	78702538	78702604
ENSE00003590266	78701671	78701751
ENSE00003603557	78680190	78680344
ENSE00003606588	78692417	78692493
ENSE00003674738	78680971	78681042
ENSE00003691942	78708197	78708261
ENSE00003785079	78698269	78698380
ENSE00003789240	78700331	78700443
ENSE00003923292	78782202	78782273

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 98.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.7760 / max 400.2096, expressed in 1753 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168467	15.5796	1702
168459	5.6154	872
168451	3.6455	200
168456	2.5602	708
168457	1.1676	545
168466	0.6738	282
168458	0.5802	303
168450	0.2393	102
168455	0.2308	137
168445	0.2190	82

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.46	gold quality
leukocyte	CL:0000738	97.09	gold quality
blood	UBERON:0000178	97.06	gold quality
monocyte	CL:0000576	97.03	gold quality
mononuclear cell	CL:0000842	97.01	gold quality
corpus callosum	UBERON:0002336	96.93	gold quality
lymph node	UBERON:0000029	96.41	gold quality
lower esophagus mucosa	UBERON:0035834	96.39	gold quality
bone marrow cell	CL:0002092	96.12	gold quality
spleen	UBERON:0002106	96.07	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.06	gold quality
vermiform appendix	UBERON:0001154	96.03	gold quality
middle frontal gyrus	UBERON:0002702	95.94	gold quality
tonsil	UBERON:0002372	95.84	gold quality
sural nerve	UBERON:0015488	95.73	gold quality
upper lobe of left lung	UBERON:0008952	95.33	gold quality
right lung	UBERON:0002167	95.25	gold quality
colonic epithelium	UBERON:0000397	95.21	gold quality
spinal cord	UBERON:0002240	95.06	gold quality
esophagus mucosa	UBERON:0002469	94.88	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.78	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.71	gold quality
upper lobe of lung	UBERON:0008948	94.66	gold quality
minor salivary gland	UBERON:0001830	94.38	gold quality
rectum	UBERON:0001052	94.15	gold quality
caecum	UBERON:0001153	93.99	gold quality
calcaneal tendon	UBERON:0003701	93.84	gold quality
skin of leg	UBERON:0001511	93.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.77	gold quality
skin of abdomen	UBERON:0001416	93.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.81
E-CURD-119	yes	4.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting CYTH1, 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-6873-3P	100.00	71.42	2626
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111

Literature-anchored findings (GeneRIF, showing 12)

• Phosphorylated cytohesin-1 is able to tightly associate with the actin cytoskeleton, and is required for maximal leukocyte function antigen-1-mediated adhesion of Jurkat cells to Icam-1. (PMID:11438522)
• Data show that CYTIP and cytoadhesin-1 are upregulated during dendritic cell maturation. (PMID:12606567)
• findings reveal that mycobacteria promote their uptake through a process of “inside-out” signaling involving CD14, TLR2, PI3K, and cytohesin-1. This converts low avidity CR3 into an active receptor leading to increased bacterial internalization (PMID:15778383)
• demonstrate an essential role of cytohesin-1/RhoA during ameboid migration in the presence of integrins (PMID:19346499)
• involvement of cytohesin-1 in the regulation of the functional responses of human PMNs, linked, in part at least, to the activation of Arf6. (PMID:20018626)
• findings suggest that cytohesin-1 is a key regulator of neutrophil adhesion to endothelial cells and to components of extracellular matrix, which may influence cell emigration through its dual opposing effect on beta2 and beta1 integrin activation (PMID:21511340)
• cytohesin inhibition has an antiproliferative effect in gefitinib-resistant lung cancer cells (PMID:22815959)
• FRMD4A RNAi or inhibition of cytohesins strongly upregulated secretion of endogenous tau. These results suggest that FRMD4A, a genetic risk factor for late-onset Alzheimer’s disease, regulates tau secretion by activating cytohesin-Arf6 signaling. (PMID:27044754)
• CYTH1 is a novel major regulator of adhesion and engraftment in human hematopoietic stem and progenitor cells through mechanisms that, at least in part, involve the activation of integrins. (PMID:27899358)
• computational study suggests that although curcumin to some extent binds with Tp receptor, yet the inhibition of Arf6GDP to Arf6GTP conversion appeared to be an important mechanism by which curcumin inhibits U46619-induced increase in PLD activity in PASMCs. (PMID:28780751)
• HGF-induced migration depends on the phosphatidylinositol 3,4,5-triphosphate-binding microexon-spliced variant of the Arf6 exchange factor cytohesin-1. (PMID:30404949)
• GBF1 alone maintains Golgi architecture; facilitates secretion; activates ADP-ribosylation factor (ARF)1, 3, 4, and 5; and recruits ARF effectors to Golgi membranes. (PMID:30943106)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	cyth1b	ENSDARG00000021488
danio_rerio	cyth1a	ENSDARG00000076742
mus_musculus	Cyth1	ENSMUSG00000017132
rattus_norvegicus	Cyth1	ENSRNOG00000043381
drosophila_melanogaster	step	FBGN0086779
caenorhabditis_elegans		WBGENE00008685

Paralogs (15): CYTH3 (ENSG00000008256), PSD (ENSG00000059915), MON2 (ENSG00000061987), ARFGEF1 (ENSG00000066777), CYTH4 (ENSG00000100055), CYTH2 (ENSG00000105443), GBF1 (ENSG00000107862), IQSEC3 (ENSG00000120645), ARFGEF2 (ENSG00000124198), IQSEC2 (ENSG00000124313), PSD4 (ENSG00000125637), IQSEC1 (ENSG00000144711), PSD2 (ENSG00000146005), PSD3 (ENSG00000156011), FBXO8 (ENSG00000164117)

Protein

Protein identifiers

Cytohesin-1 — Q15438 (reviewed: Q15438)

Alternative names: PH, SEC7 and coiled-coil domain-containing protein 1, SEC7 homolog B2-1

All UniProt accessions (7): Q15438, K7EJN5, K7EKA2, K7EL72, K7ENH6, K7ENQ8, K7ERV8

UniProt curated annotations — full annotation on UniProt →

Function. Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization, through regulation of ARF6 activity.

Subunit / interactions. Interacts with TRIM23 and CYTIP. Interacts (via coiled-coil domain) with FRMD4A (via coiled-coil domain). Interacts with FRMD4B. Found in a complex with PARD3, CYTH1 and FRMD4A. Interacts (via N-terminal domain) with INAVA (via N-terminal domain).

Subcellular location. Cell membrane. Cytoplasm. Cytosol. Cell junction. Tight junction. Adherens junction.

Tissue specificity. Ubiquitous.

Post-translational modifications. Ubiquitinated by SCF(FBXW11) E3 ubiquitin-protein ligase complex. Ubiquitination induces proteasomal degradation.

Domain organisation. Binds via its PH domain to the inositol head group of phosphatidylinositol 3,4,5-trisphosphate. Autoinhibited by its C-terminal basic region.

Isoforms (3)

UniProt ID	Names	Canonical?
Q15438-1	1	yes
Q15438-2	2
Q15438-3	3

RefSeq proteins (12): NP_001278947, NP_001278948, NP_001351966, NP_001351967, NP_001351968, NP_001351969, NP_001351970, NP_001381605, NP_001381606, NP_001381607, NP_004753, NP_059430 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000904	Sec7_dom	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR023394	Sec7_C_sf	Homologous_superfamily
IPR035999	Sec7_dom_sf	Homologous_superfamily

Pfam: PF00169, PF01369

UniProt features (31 total): helix 10, binding site 5, mutagenesis site 3, domain 2, splice variant 2, turn 2, strand 2, chain 1, modified residue 1, sequence conflict 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4A4P	X-RAY DIFFRACTION	2
1BC9	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15438-F1	84.57	0.45

Functional residue map

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

Ligand- & substrate-binding residues (5): 269–277; 281; 292; 302; 351

Post-translational modifications (1): 1

Mutagenesis-validated functional residues (3):

Position	Phenotype
157	reduces guanine exchange factor activity by over 90%.
187	reduces guanine exchange factor activity by over 90%.
195	reduces guanine exchange factor activity by over 90%.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6811438	Intra-Golgi traffic

MSigDB gene sets: 304 (showing top): YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GNF2_CASP8, DORN_ADENOVIRUS_INFECTION_12HR_UP, GOBP_ESTABLISHMENT_OF_EPITHELIAL_CELL_POLARITY, PEREZ_TP63_TARGETS, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, ACTGCAG_MIR173P, BROWNE_HCMV_INFECTION_12HR_UP, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN

GO Biological Process (4): vesicle-mediated transport (GO:0016192), regulation of cell adhesion (GO:0030155), regulation of ARF protein signal transduction (GO:0032012), establishment of epithelial cell polarity (GO:0090162)

GO Molecular Function (3): guanyl-nucleotide exchange factor activity (GO:0005085), lipid binding (GO:0008289), protein binding (GO:0005515)

GO Cellular Component (9): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), adherens junction (GO:0005912), bicellular tight junction (GO:0005923), cytoplasmic side of plasma membrane (GO:0009898), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
transport	1
cellular process	1
cell adhesion	1
regulation of cellular process	1
ARF protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
establishment of cell polarity	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
Golgi apparatus	1
bounding membrane of organelle	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1
cell-cell junction	1
apical junction complex	1
tight junction	1
plasma membrane	1
cytoplasmic side of membrane	1
cell junction	1

Protein interactions and networks

STRING

1067 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CYTH1	ARF1	P10947	997
CYTH1	CDKN2A	P42771	976
CYTH1	CYTIP	O60759	936
CYTH1	ARF6	P26438	933
CYTH1	PLEK2	Q9NYT0	913
CYTH1	RABIF	P47224	913
CYTH1	PLEK	P08567	905
CYTH1	FRMD4B	Q9Y2L6	855
CYTH1	ITGB2	P05107	851
CYTH1	FRMD4A	Q9P2Q2	840
CYTH1	TRIM23	P36406	765
CYTH1	ARF5	P26437	761
CYTH1	ARF3	P16587	719
CYTH1	RAB1A	P11476	702
CYTH1	SNX27	Q96L92	683

IntAct

99 interactions, top by confidence:

A	B	Type	Score
CYTIP	CYTH1	psi-mi:“MI:0915”(physical association)	0.810
INAVA	CYTH1	psi-mi:“MI:0915”(physical association)	0.800
CYTH1	INAVA	psi-mi:“MI:0915”(physical association)	0.800
CYTH1	CCDC120	psi-mi:“MI:0915”(physical association)	0.800
CYTH1	CNKSR1	psi-mi:“MI:0915”(physical association)	0.740
TAX1BP3	ARVCF	psi-mi:“MI:0914”(association)	0.690
CYTH1	IPCEF1	psi-mi:“MI:0915”(physical association)	0.670
INAVA	CYTH3	psi-mi:“MI:0914”(association)	0.640
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
FOSL2	CYTH1	psi-mi:“MI:0915”(physical association)	0.560
SNAPC5	CYTH1	psi-mi:“MI:0915”(physical association)	0.560
AKT1	CYTH1	psi-mi:“MI:0915”(physical association)	0.560
BDNF	CYTH1	psi-mi:“MI:0915”(physical association)	0.560
CBS	CYTH1	psi-mi:“MI:0915”(physical association)	0.560
FGF14	CYTH1	psi-mi:“MI:0915”(physical association)	0.560
HSP90AA1	CYTH1	psi-mi:“MI:0915”(physical association)	0.560
STUB1	CYTH1	psi-mi:“MI:0915”(physical association)	0.560
APH1A	CYTH1	psi-mi:“MI:0915”(physical association)	0.560
PSENEN	CYTH1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (78): CYTH1 (Affinity Capture-MS), ARRB1 (Reconstituted Complex), ARRB1 (Affinity Capture-Western), CYTH1 (Affinity Capture-MS), ARFRP1 (Two-hybrid), CYTH1 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS)

ESM2 similar proteins: A0A3Q1LSX9, A2A5R2, A2ALK8, A2APV2, D4A631, G3X9K3, G5EBH0, O08967, O43739, O46382, P26675, P42338, P52735, P63034, P63035, P97694, P97696, Q07139, Q15111, Q15438, Q2KI41, Q32NH8, Q3USB7, Q3UYK3, Q4KWH5, Q4KWH8, Q5SVR0, Q60992, Q62688, Q66K14, Q6NXC0, Q6ZPF4, Q6ZT07, Q76MY7, Q76MZ1, Q7TSU1, Q80YW0, Q8IVF7, Q8K394, Q8K4M9

Diamond homologs: A0A0G2JUG7, A2A5R2, A5PKW4, D4A631, E1JIT7, F1MUS9, F4IXW2, F4JN05, F4JSZ5, F4K2K3, G3X9K3, G5EET6, O08967, O13690, O13817, O43739, O46382, P11075, P34512, P39993, P47102, P63034, P63035, P97694, P97696, Q10491, Q15438, Q2KI41, Q2PFD7, Q3TES0, Q42510, Q54KA7, Q5DTT2, Q5DU25, Q5E9G6, Q5JU85, Q6DFZ1, Q6DN90, Q6P1I6, Q76M68

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
PRKCD	unknown	CYTH1	phosphorylation
FYN	“up-regulates activity”	CYTH1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	43
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	Pathogenic

SpliceAI

3190 predictions. Top by Δscore:

Variant	Effect	Δscore
17:78676178:C:CT	acceptor_gain	1.0000
17:78676179:A:T	acceptor_gain	1.0000
17:78680183:CACT:C	donor_loss	1.0000
17:78680184:ACTT:A	donor_loss	1.0000
17:78680186:TTAC:T	donor_loss	1.0000
17:78680187:T:TC	donor_loss	1.0000
17:78680188:A:AC	donor_gain	1.0000
17:78680188:ACT:A	donor_loss	1.0000
17:78680189:C:CC	donor_gain	1.0000
17:78680189:CTTA:C	donor_gain	1.0000
17:78680189:CTTAA:C	donor_gain	1.0000
17:78680192:A:AC	donor_gain	1.0000
17:78680201:AAT:A	donor_gain	1.0000
17:78680211:T:TA	donor_gain	1.0000
17:78680340:CAGTT:C	acceptor_gain	1.0000
17:78680341:AGTT:A	acceptor_gain	1.0000
17:78680343:TT:T	acceptor_gain	1.0000
17:78680344:TCTG:T	acceptor_loss	1.0000
17:78680345:C:CC	acceptor_gain	1.0000
17:78680345:CTGAG:C	acceptor_loss	1.0000
17:78680353:C:CT	acceptor_gain	1.0000
17:78680354:A:T	acceptor_gain	1.0000
17:78680358:C:CT	acceptor_gain	1.0000
17:78680963:ATACT:A	donor_loss	1.0000
17:78680965:ACT:A	donor_loss	1.0000
17:78680966:CTCA:C	donor_gain	1.0000
17:78680967:TCA:T	donor_loss	1.0000
17:78680968:CA:C	donor_loss	1.0000
17:78680969:A:AC	donor_gain	1.0000
17:78680970:C:CG	donor_gain	1.0000

AlphaMissense

2667 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:78680204:C:A	W368C	1.000
17:78680204:C:G	W368C	1.000
17:78680206:A:G	W368R	1.000
17:78680206:A:T	W368R	1.000
17:78680245:A:C	Y355D	1.000
17:78680245:A:G	Y355H	1.000
17:78680252:G:C	H352Q	1.000
17:78680252:G:T	H352Q	1.000
17:78680254:G:C	H352D	1.000
17:78680259:C:T	G350E	1.000
17:78680260:C:A	G350W	1.000
17:78680260:C:G	G350R	1.000
17:78680260:C:T	G350R	1.000
17:78680288:C:A	K340N	1.000
17:78680288:C:G	K340N	1.000
17:78680290:T:C	K340E	1.000
17:78680291:G:C	C339W	1.000
17:78680292:C:T	C339Y	1.000
17:78680293:A:G	C339R	1.000
17:78680295:G:T	A338D	1.000
17:78680297:C:A	K337N	1.000
17:78680297:C:G	K337N	1.000
17:78680331:A:G	L326P	1.000
17:78681005:A:G	L310P	1.000
17:78681014:A:G	L307S	1.000
17:78681017:G:T	P306H	1.000
17:78681020:A:C	I305S	1.000
17:78681020:A:G	I305T	1.000
17:78681020:A:T	I305N	1.000
17:78681023:A:C	I304S	1.000

dbSNP variants (sampled 300 via entrez): RS1000010552 (17:78703818 T>C), RS1000048700 (17:78686706 C>A), RS1000057863 (17:78749666 A>T), RS1000074321 (17:78683969 T>A,C), RS1000117535 (17:78731092 G>A,C), RS1000186193 (17:78777371 T>A,C), RS1000199455 (17:78761222 T>A), RS1000202528 (17:78682561 A>G), RS1000254759 (17:78772347 C>T), RS1000261931 (17:78716275 A>G), RS1000280641 (17:78677021 T>A), RS1000301120 (17:78756964 G>C), RS1000303442 (17:78678662 G>A,C), RS1000313299 (17:78755320 T>C), RS1000314530 (17:78716002 A>C,G)

Disease associations

OMIM: gene MIM:182115 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002200_3	Anxiety and major depressive disorder	2.000000e-06
GCST006414_37	Atrial fibrillation	4.000000e-08
GCST007096_61	Pulse pressure	2.000000e-06
GCST007099_18	Systolic blood pressure	1.000000e-08
GCST007269_130	Pulse pressure	4.000000e-09
GCST010242_115	HDL cholesterol levels	2.000000e-08
GCST90002404_185	Red cell distribution width	2.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	affects expression, increases expression	3
Valproic Acid	affects expression, increases expression, increases methylation	3
Acetaminophen	increases expression	2
Air Pollutants	increases oxidation, increases expression, affects cotreatment, increases abundance	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Tobacco Smoke Pollution	increases expression, decreases methylation	2
Tretinoin	increases expression	2
bufotalin	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases oxidation	1
bisphenol A	decreases methylation	1
sodium arsenite	increases abundance, affects cotreatment, decreases expression	1
cobaltous chloride	increases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
K 7174	increases expression	1
belinostat	decreases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Leflunomide	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Azacitidine	increases expression	1
Benzene	increases expression	1
Carmustine	increases expression	1

Clinical trials (associated diseases)

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