PCDH17

Summary

PCDH17 (protocadherin 17, HGNC:14267) is a protein-coding gene on chromosome 13q21.1, encoding Protocadherin-17 (O14917). Potential calcium-dependent cell-adhesion protein.

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain.

Source: NCBI Gene 27253 — RefSeq curated summary.

At a glance

• GWAS associations: 29
• Clinical variants (ClinVar): 154 total
• MANE Select transcript: NM_001040429

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14267
Approved symbol	PCDH17
Name	protocadherin 17
Location	13q21.1
Locus type	gene with protein product
Status	Approved
Aliases	PCDH68, PCH68
Ensembl gene	ENSG00000118946
Ensembl biotype	protein_coding
OMIM	611760
Entrez	27253

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000377918, ENST00000484979, ENST00000612954, ENST00000615375

RefSeq mRNA: 1 — MANE Select: NM_001040429 NM_001040429

CCDS: CCDS31986

Canonical transcript exons

ENST00000377918 — 4 exons

Exon	Start	End
ENSE00000802261	57666468	57666526
ENSE00001475509	57724612	57729311
ENSE00001475526	57666661	57666833
ENSE00001931474	57631744	57635111

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 99.32.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0306 / max 53.3712, expressed in 230 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
135265	0.2280	114
135266	0.2267	126
135269	0.1887	92
135268	0.1580	88
135267	0.1554	84
135264	0.0739	44

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.32	gold quality
visceral pleura	UBERON:0002401	96.75	gold quality
sperm	CL:0000019	95.84	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.75	gold quality
entorhinal cortex	UBERON:0002728	95.44	gold quality
lower lobe of lung	UBERON:0008949	95.18	gold quality
male germ cell	CL:0000015	94.29	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.13	gold quality
superior vestibular nucleus	UBERON:0007227	93.92	gold quality
germinal epithelium of ovary	UBERON:0001304	93.82	gold quality
ventral tegmental area	UBERON:0002691	93.58	gold quality
globus pallidus	UBERON:0001875	93.56	gold quality
middle temporal gyrus	UBERON:0002771	93.56	gold quality
medial globus pallidus	UBERON:0002477	93.48	gold quality
lateral globus pallidus	UBERON:0002476	93.45	gold quality
inferior olivary complex	UBERON:0002127	93.08	gold quality
cranial nerve II	UBERON:0000941	92.91	gold quality
medulla oblongata	UBERON:0001896	92.64	gold quality
inferior vagus X ganglion	UBERON:0005363	92.36	gold quality
substantia nigra pars compacta	UBERON:0001965	92.31	gold quality
buccal mucosa cell	CL:0002336	92.28	gold quality
superior frontal gyrus	UBERON:0002661	91.82	gold quality
parietal lobe	UBERON:0001872	91.41	gold quality
subthalamic nucleus	UBERON:0001906	91.09	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	91.08	gold quality
postcentral gyrus	UBERON:0002581	91.03	gold quality
orbitofrontal cortex	UBERON:0004167	90.98	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.44	gold quality
CA1 field of hippocampus	UBERON:0003881	90.40	gold quality
lateral nuclear group of thalamus	UBERON:0002736	89.79	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-HCAD-30	yes	28927.84
E-GEOD-180759	yes	5521.35
E-GEOD-124472	yes	300.41
E-HCAD-1	yes	43.00
E-GEOD-135922	yes	36.58
E-MTAB-6701	yes	33.94
E-HCAD-10	yes	32.46
E-GEOD-81547	yes	21.70
E-MTAB-6678	yes	14.28
E-ANND-3	yes	11.89
E-GEOD-83139	yes	9.57
E-CURD-112	yes	8.69
E-GEOD-93593	yes	4.42
E-MTAB-9543	no	1.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

291 targeting PCDH17, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6867-5P	100.00	82.21	3464
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-3924	100.00	72.09	2394
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-103A-3P	99.98	69.14	1595

Literature-anchored findings (GeneRIF, showing 27)

• the apparent occurrence of an unusual TG 3’ splice site in intron 2 is discussed (PMID:17672918)
• Azoospermic testis showed down-regulation of CDH18 and PCDH17. (PMID:20180417)
• results suggest that silencing of PCDH17 expression through hypermethylation of the promoter or other mechanisms leads to loss of its tumour-suppressive activity, which may be a factor in the carcinogenesis of a subgroup of ESCCs (PMID:20200074)
• statistical significant downregulation of PCDH17/PCH68 and PTPRD was observed (PMID:21213369)
• Our study clearly demonstrates that PCDH17 is transcriptionally downregulated in gastric cancer due to aberrant promoter CpG island methylation (PMID:22207556)
• PCDH17 acts as a tumour suppressor, exerting its anti-proliferative activity through inducing apoptosis and autophagy, and is frequently silenced in gastric and colorectal cancers. (PMID:22926751)
• This study demonistrated that critical role for PCDH17 in the synaptic development of specific corticobasal ganglia circuits and suggest the involvement of PCDH17 in such circuits in depressive behaviors. (PMID:23684785)
• PCDH17 promoter methylation was significantly associated with malignant behaviour and poor prognosis of bladder cancer (PMID:24366498)
• PCDH17 promoter methylation is closely associated with bladder cancer malignancy and may be used as an independent predictor of clinical outcomes in patients with bladder cancer. (PMID:24567353)
• PCDH-17 inhibited metastasis via EGFR/MEK/ERK signaling pathway. (PMID:26386721)
• PCDH17 methylation occurred more frequently and was associated with malignant clinicopathological characteristics and poor prognosis in clear cell renal cell carcinoma patients (PMID:26404644)
• PCDH17 methylation in serum is a frequent event in early-stage prostate cancer, and it is an independent predictor of BCR after radical prostatectomy (PMID:26683656)
• DNA methylation in a combination of POU4F2/PCDH17 has yielded the highest sensitivity and specificity of 90.00% and 93.96% in all the 312 individuals, showing the capability of detecting bladder cancer effectively among pathologically varied sample groups. (PMID:26700620)
• PCDH17 functions as a tumor suppressor inhibiting Wnt/beta-catenin signaling and metastasis in breast cancer but is frequently methylated in primary tumors which could be a potential biomarker. (PMID:27351130)
• Aberrant methylation of protocadherin 17 is associated with acute lymphoblastic leukemia. (PMID:27643535)
• We report a genetic association with mood disorders within the genomic region spanning PCDH17. A consistent pattern of allelic association, involving cognition, neuroticism as personality trait, structural and functional imaging, was found in independent samples and in expression of the PCDH17 gene in brain tissues. (PMID:28070120)
• PCDH17 methylation in serum is a potential prognostic biomarker for patients with renal cell carcinoma after surgery. (PMID:28688232)
• PCDH17 methylation is detectable in serum of cancer patients. (PMID:29566279)
• Methylation of PCDH17 could play an important role in development and progression of high-grade serous ovarian carcinoma (HGSOC)and has potential to become a target in the search for new clinical biomarkers (PMID:29991130)
• Aberrant hypermethylation in the promoter might be the explanation of PCDH17 downregulated in PCDH17 and promoted the development of nasopharyngeal cancer(NPC). (PMID:30165032)
• Study found elevated promoter methylation and decreased expression of PCDH10 and PCDH17 in advanced gastric lesions, suggesting that elevated PCDH10 and PCDH17 methylation may be an early event in gastric carcinogenesis. (PMID:30213786)
• PCDH17 is downregulated in laryngeal squamous cell carcinoma. (PMID:30454973)
• PCDH17 gene was silenced by DNA methylation in acute myeloid leukemia (AML). Low PCDH17 expression is associated with distinct clinical and biological features and improves risk stratification in patients with AML. (PMID:30922328)
• MiR-23a-3p promoted G1/S cell cycle transition by targeting protocadherin17 in hepatocellular carcinoma. (PMID:31994011)
• Repression of protocadherin 17 is correlated with elevated angiogenesis and hypoxia markers in female patients with breast cancer. (PMID:33896826)
• PCDH17 gene promoter methylation status in a cohort of Egyptian women with epithelial ovarian cancer. (PMID:36698136)
• Ubiquitin ligase NEDD4 promotes the proliferation of hepatocellular carcinoma cells through targeting PCDH17 protein for ubiquitination and degradation. (PMID:38145746)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pcdh17	ENSDARG00000027041
mus_musculus	Pcdh17	ENSMUSG00000035566
rattus_norvegicus	Pcdh17	ENSRNOG00000008970

Paralogs (61): PCDHB4 (ENSG00000081818), PCDHA6 (ENSG00000081842), PCDHGA2 (ENSG00000081853), PCDHB2 (ENSG00000112852), PCDHB3 (ENSG00000113205), PCDHB5 (ENSG00000113209), PCDHB6 (ENSG00000113211), PCDHB7 (ENSG00000113212), PCDHB15 (ENSG00000113248), PCDH12 (ENSG00000113555), PCDHB8 (ENSG00000120322), PCDHB10 (ENSG00000120324), PCDHB14 (ENSG00000120327), PCDHB12 (ENSG00000120328), PCDH8 (ENSG00000136099), PCDH10 (ENSG00000138650), PCDH15 (ENSG00000150275), PCDH19 (ENSG00000165194), CDH16 (ENSG00000166589), PCDHB1 (ENSG00000171815), PCDHB9 (ENSG00000177839), PCDHB13 (ENSG00000187372), CDHR4 (ENSG00000187492), PCDH18 (ENSG00000189184), PCDHB11 (ENSG00000197479), PCDHGA1 (ENSG00000204956), PCDHA9 (ENSG00000204961), PCDHA8 (ENSG00000204962), PCDHA7 (ENSG00000204963), PCDHA5 (ENSG00000204965), PCDHA4 (ENSG00000204967), PCDHA2 (ENSG00000204969), PCDHA1 (ENSG00000204970), PCDHA13 (ENSG00000239389), PCDHGC3 (ENSG00000240184), PCDHGC5 (ENSG00000240764), PCDHGC4 (ENSG00000242419), PCDHAC2 (ENSG00000243232), PCDHAC1 (ENSG00000248383), PCDHA11 (ENSG00000249158)

Protein

Protein identifiers

Protocadherin-17 — O14917 (reviewed: O14917)

Alternative names: Protocadherin-68

All UniProt accessions (3): O14917, A0A087WXV2, A0A087X099

UniProt curated annotations — full annotation on UniProt →

Function. Potential calcium-dependent cell-adhesion protein.

Subcellular location. Cell membrane.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (2)

UniProt ID	Names	Canonical?
O14917-1	1	yes
O14917-2	2

RefSeq proteins (1): NP_001035519* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002126	Cadherin-like_dom	Domain
IPR013164	Cadherin_N	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site
IPR050174	Protocadherin/Cadherin-CA	Family

Pfam: PF00028, PF08266

UniProt features (31 total): glycosylation site 7, domain 6, sequence conflict 5, compositionally biased region 3, region of interest 2, topological domain 2, splice variant 2, signal peptide 1, chain 1, short sequence motif 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6VFT	X-RAY DIFFRACTION	3.71

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14917-F1	67.96	0.42

Functional residue map

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

Glycosylation sites (7): 22, 266, 439, 453, 504, 566, 590

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 283 (showing top): chr13q21, AHRARNT_01, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, AP1_01, BENPORATH_ES_WITH_H3K27ME3, HNF3ALPHA_Q6, GOBP_BEHAVIOR, GOBP_VESICLE_LOCALIZATION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_SYNAPSE_ASSEMBLY, GOBP_ADULT_BEHAVIOR, GOBP_VESICLE_MEDIATED_TRANSPORT, ATGCAGT_MIR217, AAAYRNCTG_UNKNOWN

GO Biological Process (7): cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), adult behavior (GO:0030534), negative regulation of synaptic transmission (GO:0050805), synaptic membrane adhesion (GO:0099560), presynaptic active zone assembly (GO:1904071), regulation of synaptic vesicle clustering (GO:2000807)

GO Molecular Function (3): calcium ion binding (GO:0005509), cell adhesion molecule binding (GO:0050839), protein binding (GO:0005515)

GO Cellular Component (6): plasma membrane (GO:0005886), presynaptic membrane (GO:0042734), postsynaptic membrane (GO:0045211), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	2
synaptic membrane	2
synapse	2
cellular process	1
behavior	1
chemical synaptic transmission	1
negative regulation of cell communication	1
negative regulation of signaling	1
modulation of chemical synaptic transmission	1
synapse organization	1
cellular component assembly	1
presynapse assembly	1
presynaptic active zone organization	1
regulation of localization	1
synaptic vesicle clustering	1
metal ion binding	1
protein binding	1
binding	1
membrane	1
cell periphery	1
presynapse	1
postsynapse	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1076 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PCDH17	POU4F2	Q12837	634
PCDH17	HOXA9	P31269	468
PCDH17	CELSR1	Q9NYQ6	428
PCDH17	ZFP37	Q9Y6Q3	427
PCDH17	PCDHGC5	Q9Y5F6	419
PCDH17	ZNF154	Q13106	419
PCDH17	PCDHAC2	Q9Y5I4	418
PCDH17	JAM3	Q9BX67	413
PCDH17	PCDHGC4	Q9Y5F7	411
PCDH17	CHURC1	Q8WUH1	406
PCDH17	KCNG3	Q8TAE7	398
PCDH17	OLFM4	Q6UX06	387
PCDH17	AMIGO1	Q86WK6	384
PCDH17	HLA-DPA1	P01905	384
PCDH17	EPHA7	Q15375	383

IntAct

29 interactions, top by confidence:

A	B	Type	Score
PCDH17	TSC22D4	psi-mi:“MI:0915”(physical association)	0.560
PCDH17	YAF2	psi-mi:“MI:0915”(physical association)	0.560
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
FLRT1	TCAF2	psi-mi:“MI:0914”(association)	0.530
FCGRT	GOLIM4	psi-mi:“MI:0914”(association)	0.530
ZP3	PCDH17	psi-mi:“MI:0915”(physical association)	0.490
PCDH17	HSPD1	psi-mi:“MI:0915”(physical association)	0.400
ABI2	PCDH17	psi-mi:“MI:0915”(physical association)	0.400
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
SPSB4	CCDC85C	psi-mi:“MI:0914”(association)	0.350
RYK	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
LSMEM2	PCDH17	psi-mi:“MI:0914”(association)	0.350
PCDH20	PCDH17	psi-mi:“MI:0914”(association)	0.350
PCDH12	PCDH17	psi-mi:“MI:0914”(association)	0.350
FCGR1A	PCDH17	psi-mi:“MI:0914”(association)	0.350
INSR	BLTP3B	psi-mi:“MI:0914”(association)	0.350
INSR	UBXN8	psi-mi:“MI:0914”(association)	0.350
INSR	ATOX1	psi-mi:“MI:0914”(association)	0.350
BRK1	PCDH17	psi-mi:“MI:0914”(association)	0.350
PCDH17	TSC22D4	psi-mi:“MI:0915”(physical association)	0.000
PCDH17	YAF2	psi-mi:“MI:0915”(physical association)	0.000
MYB	PCDH17	psi-mi:“MI:0915”(physical association)	0.000
PCDH17		psi-mi:“MI:0915”(physical association)	0.000
UBQLN4	PCDH17	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (44): PCDH17 (Affinity Capture-MS), PCDH17 (Affinity Capture-MS), PCDH17 (Affinity Capture-MS), PCDH17 (Affinity Capture-MS), PCDH17 (Affinity Capture-MS), PCDH17 (Affinity Capture-MS), PCDH17 (Two-hybrid), TSC22D4 (Two-hybrid), HSPD1 (Proximity Label-MS), PCDH17 (Affinity Capture-RNA), PCDH17 (Affinity Capture-MS), PCDH17 (Affinity Capture-MS), PCDH17 (Affinity Capture-MS), PCDH17 (Affinity Capture-MS), PCDH17 (Affinity Capture-MS)

ESM2 similar proteins: A7MB46, F8W3X3, O14917, O35902, O54800, O97799, P05622, P16234, P20786, P26618, P26619, P32926, P35546, P55286, P55289, P79749, P97291, Q05030, Q08DJ5, Q13634, Q14126, Q28889, Q5RJH3, Q68SP4, Q6KEQ9, Q6W3B0, Q6WXV7, Q6WYY1, Q6X862, Q71M42, Q7TMD7, Q7TSF0, Q7YRU7, Q80TF3, Q86SJ6, Q8AXC6, Q8AXC7, Q8BIZ0, Q8N6Y1, Q8TAB3

Diamond homologs: A7MB46, D3ZE55, F8W3X3, O14917, O55134, O60330, O88689, O95206, Q5DRA2, Q5DRA3, Q5DRA4, Q5DRA5, Q5DRA6, Q5DRA7, Q5DRA8, Q5DRA9, Q5DRB0, Q5DRB1, Q5DRB2, Q5DRB3, Q5DRB4, Q5DRB5, Q5DRB6, Q5DRB7, Q5DRB8, Q5DRB9, Q5DRC0, Q5DRC1, Q5DRC2, Q5DRC6, Q5DRD3, Q5DRD6, Q5DRE0, Q5DRE1, Q5DRE3, Q5DRE4, Q5DRE5, Q5DRE6, Q5DRE7, Q5DRE8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	145
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1202 predictions. Top by Δscore:

Variant	Effect	Δscore
13:57666648:A:AG	acceptor_gain	1.0000
13:57666648:ATAT:A	acceptor_gain	1.0000
13:57666649:T:G	acceptor_gain	1.0000
13:57666650:A:AG	acceptor_gain	1.0000
13:57666650:AT:A	acceptor_gain	1.0000
13:57666651:T:G	acceptor_gain	1.0000
13:57666651:T:TA	acceptor_gain	1.0000
13:57666654:A:AG	acceptor_gain	1.0000
13:57666655:TTTCA:T	acceptor_loss	1.0000
13:57666656:TTCA:T	acceptor_loss	1.0000
13:57666657:TCAG:T	acceptor_loss	1.0000
13:57666658:CA:C	acceptor_loss	1.0000
13:57666659:A:AG	acceptor_gain	1.0000
13:57666659:AGT:A	acceptor_loss	1.0000
13:57666660:G:GA	acceptor_gain	1.0000
13:57666660:GT:G	acceptor_gain	1.0000
13:57666660:GTA:G	acceptor_gain	1.0000
13:57666660:GTAGC:G	acceptor_gain	1.0000
13:57666831:AAGG:A	donor_loss	1.0000
13:57666833:GGT:G	donor_loss	1.0000
13:57666834:G:A	donor_loss	1.0000
13:57666835:T:A	donor_loss	1.0000
13:57666465:C:G	acceptor_gain	0.9900
13:57666466:A:AG	acceptor_gain	0.9900
13:57666467:G:GA	acceptor_gain	0.9900
13:57666467:GACA:G	acceptor_gain	0.9900
13:57666526:GGTAA:G	donor_loss	0.9900
13:57666527:G:GA	donor_loss	0.9900
13:57666528:T:A	donor_loss	0.9900
13:57666655:T:G	acceptor_gain	0.9900

AlphaMissense

7632 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:57632926:A:C	D127A	1.000
13:57632926:A:T	D127V	1.000
13:57632935:C:A	P130H	1.000
13:57633268:C:A	P241Q	1.000
13:57633556:T:A	V337D	1.000
13:57633562:T:A	V339D	1.000
13:57633583:A:C	D346A	1.000
13:57633592:C:A	P349Q	1.000
13:57633660:G:C	A372P	1.000
13:57633661:C:A	A372D	1.000
13:57633664:T:C	L373P	1.000
13:57633678:G:C	D378H	1.000
13:57633684:G:C	D380H	1.000
13:57633685:A:C	D380A	1.000
13:57633685:A:T	D380V	1.000
13:57633840:C:A	R432S	1.000
13:57633841:G:C	R432P	1.000
13:57633844:A:T	E433V	1.000
13:57633871:T:A	I442N	1.000
13:57633882:G:C	D446H	1.000
13:57633883:A:C	D446A	1.000
13:57633883:A:T	D446V	1.000
13:57633936:G:C	D464H	1.000
13:57633937:A:T	D464V	1.000
13:57633946:A:C	D467A	1.000
13:57633946:A:T	D467V	1.000
13:57633955:C:A	P470H	1.000
13:57633960:T:C	F472L	1.000
13:57633962:C:A	F472L	1.000
13:57633962:C:G	F472L	1.000

dbSNP variants (sampled 300 via entrez): RS1000040098 (13:57714804 C>G), RS1000082271 (13:57655562 A>G), RS1000111370 (13:57677640 A>G), RS1000160682 (13:57707793 C>T), RS1000163579 (13:57677253 C>T), RS1000189200 (13:57721778 C>A,T), RS1000225286 (13:57631560 A>T), RS1000228205 (13:57662413 T>C), RS1000244119 (13:57669475 C>A,T), RS1000269541 (13:57687635 A>G), RS1000307058 (13:57714074 A>G,T), RS1000317337 (13:57728329 A>G), RS1000326210 (13:57638737 G>C), RS1000359416 (13:57684381 G>A,C), RS1000399904 (13:57638390 G>A)

Disease associations

OMIM: gene MIM:611760 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST001521_6	Subcutaneous adipose tissue	8.000000e-06
GCST002774_25	Cognitive function	2.000000e-06
GCST002783_245	Body mass index	6.000000e-06
GCST002783_424	Body mass index	5.000000e-06
GCST003170_1	Subcutaneous adipose tissue	6.000000e-07
GCST005141_14	Cognitive ability (MTAG)	2.000000e-11
GCST005316_385	Intelligence (MTAG)	4.000000e-10
GCST005316_386	Intelligence (MTAG)	4.000000e-08
GCST005316_387	Intelligence (MTAG)	2.000000e-08
GCST005316_388	Intelligence (MTAG)	1.000000e-10
GCST005316_463	Intelligence (MTAG)	2.000000e-09
GCST006479_13	Diverticular disease	8.000000e-06
GCST006630_40	Diastolic blood pressure	4.000000e-10
GCST006922_18	Regular attendance at a religious group	2.000000e-08
GCST006944_54	Experiencing mood swings	1.000000e-12
GCST008357_21	Mood instability	8.000000e-12
GCST008357_23	Mood instability	1.000000e-12
GCST008595_125	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	1.000000e-15
GCST009379_184	Type 2 diabetes	5.000000e-08
GCST009379_185	Type 2 diabetes	9.000000e-08
GCST009524_165	Household income (MTAG)	7.000000e-12
GCST009524_275	Household income (MTAG)	3.000000e-09
GCST010135_28	Oily fish consumption	3.000000e-09
GCST010140_18	Pork consumption	3.000000e-09
GCST010142_52	Fish- and plant-related diet	4.000000e-08
GCST010170_1	Neonatal total 25-hydroxyvitamin D levels (maternal genetic effect)	7.000000e-08
GCST010988_469	Adult body size	2.000000e-16
GCST010989_58	Body size at age 10	2.000000e-16
GCST012490_110	Femur bone mineral density x serum urate levels interaction	1.000000e-08

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0004340	body mass index
EFO:0004784	self reported educational attainment
EFO:0009959	diverticular disease
EFO:0006336	diastolic blood pressure
EFO:0009592	social interaction measurement
EFO:0008475	mood instability measurement
EFO:0009695	household income
EFO:0008111	diet measurement
EFO:0005939	parental genotype effect measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	5
mercuric bromide	increases expression, affects cotreatment	2
Tretinoin	increases expression	2
testosterone enanthate	affects expression	1
methylmercuric chloride	increases expression	1
titanium dioxide	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	increases expression, decreases expression	1
arsenite	increases methylation	1
sodium arsenite	affects methylation	1
potassium chromate(VI)	increases expression	1
4-aminophenylarsenoxide	decreases reaction, affects binding	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
(+)-JQ1 compound	increases expression	1
excavatolide B	decreases expression	1
Temozolomide	increases expression	1
Zoledronic Acid	increases expression	1
Arsenic Trioxide	decreases reaction, affects binding	1
Fulvestrant	decreases methylation	1
Aspirin	increases expression	1
Benzo(a)pyrene	increases methylation, affects methylation, decreases methylation	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance, affects cotreatment	1
Rotenone	decreases expression	1
Sulindac	decreases expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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