SEC62

Summary

SEC62 (SEC62 preprotein translocation factor, HGNC:11846) is a protein-coding gene on chromosome 3q26.2, encoding Translocation protein SEC62 (Q99442). Mediates post-translational transport of precursor polypeptides across endoplasmic reticulum (ER). It is a selective cancer dependency (DepMap: 30.1% of cell lines).

The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER.

Source: NCBI Gene 7095 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 37 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 30.1% of screened cell lines
• MANE Select transcript: NM_003262

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11846
Approved symbol	SEC62
Name	SEC62 preprotein translocation factor
Location	3q26.2
Locus type	gene with protein product
Status	Approved
Aliases	Dtrp1, HTP1
Ensembl gene	ENSG00000008952
Ensembl biotype	protein_coding
OMIM	602173
Entrez	7095

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 13 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000337002, ENST00000460513, ENST00000461933, ENST00000469515, ENST00000469890, ENST00000470355, ENST00000480708, ENST00000481435, ENST00000487736, ENST00000497277, ENST00000870858, ENST00000870859, ENST00000870860, ENST00000870861, ENST00000870862, ENST00000870863, ENST00000870864, ENST00000870865, ENST00000932400, ENST00000932401, ENST00000932402

RefSeq mRNA: 1 — MANE Select: NM_003262 NM_003262

CCDS: CCDS3210

Canonical transcript exons

ENST00000337002 — 8 exons

Exon	Start	End
ENSE00001345479	169992594	169998373
ENSE00001838406	169966807	169966858
ENSE00003528328	169983161	169983253
ENSE00003535980	169988240	169988359
ENSE00003625106	169976946	169977051
ENSE00003658710	169982707	169982911
ENSE00003663604	169985805	169985865
ENSE00003676558	169975608	169975716

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.6013 / max 5339.5445, expressed in 1768 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
39685	46.4621	1764
39691	2.8215	778
39688	0.7994	230
39687	0.2980	86
39686	0.1146	35
39692	0.1057	29

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.71	gold quality
superior vestibular nucleus	UBERON:0007227	99.53	gold quality
pons	UBERON:0000988	99.47	gold quality
parotid gland	UBERON:0001831	99.47	gold quality
inferior vagus X ganglion	UBERON:0005363	99.47	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.46	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.44	gold quality
cardia of stomach	UBERON:0001162	99.43	gold quality
renal medulla	UBERON:0000362	99.40	gold quality
substantia nigra pars compacta	UBERON:0001965	99.40	gold quality
choroid plexus epithelium	UBERON:0003911	99.37	gold quality
pylorus	UBERON:0001166	99.36	gold quality
subthalamic nucleus	UBERON:0001906	99.33	gold quality
lateral globus pallidus	UBERON:0002476	99.33	gold quality
medulla oblongata	UBERON:0001896	99.31	gold quality
globus pallidus	UBERON:0001875	99.30	gold quality
seminal vesicle	UBERON:0000998	99.29	gold quality
ventral tegmental area	UBERON:0002691	99.29	gold quality
trigeminal ganglion	UBERON:0001675	99.28	gold quality
medial globus pallidus	UBERON:0002477	99.27	gold quality
calcaneal tendon	UBERON:0003701	99.27	gold quality
trabecular bone tissue	UBERON:0002483	99.13	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.11	gold quality
corpus epididymis	UBERON:0004359	99.07	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.07	gold quality
pigmented layer of retina	UBERON:0001782	99.06	gold quality
oocyte	CL:0000023	99.03	gold quality
pericardium	UBERON:0002407	99.03	gold quality
vena cava	UBERON:0004087	99.03	gold quality
urethra	UBERON:0000057	99.02	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-ENAD-21	yes	1529.24
E-CURD-7	yes	1517.39
E-CURD-46	yes	40.14
E-HCAD-1	yes	36.90
E-MTAB-6701	yes	15.66
E-MTAB-8142	yes	11.61
E-MTAB-6678	yes	8.15
E-CURD-112	yes	5.39
E-MTAB-6524	no	331.72
E-MTAB-9689	no	290.42
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

244 targeting SEC62, 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-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AJ-3P	99.96	73.38	5345

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 30.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 20)

• The gene TLOC1/SEC62 revealed the highest frequency (50%) of copy number gains in the prostate cancer and was found to be up-regulated at the mRNA level. (PMID:16547154)
• after silencing of SEC62 the cell migration and the invasive potential of the cells was blocked or at least dramatically reduced while cell viability was hardly affected. SEC62 gene may indeed be considered a target gene in the therapy of various tumors (PMID:20669223)
• Our data indicate a crucial function of Sec62 in the response to thapsigargin-induced endoplasmic reticulum stress. (PMID:21557272)
• The results indicate that SEC62 represents a potential candidate oncogene in the amplified 3q region in cases of non-small cell lung cancer. (PMID:22197383)
• Silencing the SEC62 gene inhibits post-translational transport of small presecretory proteins into endoplasmic reticulum. (PMID:22375059)
• the Sec62-dependent translocation pathway serves as a fail-safe mechanism to ensure efficient secretion of small proteins and provides cells with an opportunity to regulate secretion of small proteins independent of the signal recognition particle pathway (PMID:22648169)
• These results revealed that cyclin B1 and Sec62 may be candidate biomarkers and potential therapeutic targets for HBV-related HCC recurrence after surgery. (PMID:22682366)
• Phosphorylation of Sec63 by CK2 enhanced its binding to Sec62 (PMID:23287549)
• these studies identify TLOC1 and SKIL as driver genes at 3q26 and more broadly suggest that cooperating genes may be coamplified in other regions with somatic copy number gain. (PMID:23764425)
• Sec62 overproduction significantly correlates with reduced non-small lung cancer patient survival. (PMID:24304694)
• High Sec62 expression is associated with dysplastic cervical lesions. (PMID:27553742)
• identify Sec62 as a critical molecular component in maintenance and recovery of endoplasmic reticulum homeostasis (PMID:27749824)
• Results show higher SEC62 in the lymph node metastases from head and neck squamous cell carcinomas and cervical cancer of unknown primary patients compared with the primary tumor. Tumors from N1 to N3 stage exhibit increasing SEC62 expression in the lymphatic metastases. Its knockdown resulted in tumor cell line migration inhibition while, its overexpression stimulated cell migration. (PMID:28002801)
• In tissue samples from 53 breast cancer patients,found increased SEC62 protein levels in tumor tissue compared to tumor-free tissue from the same patients. Tumors with high SEC62 expression or containing isolated cells with high SEC62 staining had more frequently distant metastases. ). Overall survival was significantly worse in BC patients with high SEC62 expression and in cases with isolated-intense SEC62 staining. (PMID:30747329)
• miR-4429 prevented gastric cancer progression through targeting METTL3 to inhibit m(6)A-caused stabilization of SEC62 (PMID:31395342)
• Identification of signal peptide features for substrate specificity in human Sec62/Sec63-dependent ER protein import. (PMID:32133789)
• Sec62 promotes stemness and chemoresistance of human colorectal cancer through activating Wnt/beta-catenin pathway. (PMID:33858476)
• Sec62 promotes gastric cancer metastasis through mediating UPR-induced autophagy activation. (PMID:35165763)
• Splicing factor SNRPA associated with microvascular invasion promotes hepatocellular carcinoma metastasis through activating NOTCH1/Snail pathway and is mediated by circSEC62/miR-625-5p axis. (PMID:36715182)
• The 3q Oncogene SEC62 Predicts Response to Neoadjuvant Chemotherapy and Regulates Tumor Cell Migration in Triple Negative Breast Cancer. (PMID:37298528)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sec62	ENSDARG00000019951
mus_musculus	Sec62	ENSMUSG00000027706
rattus_norvegicus	Sec62	ENSRNOG00000009057
drosophila_melanogaster	Trp1	FBGN0011584
caenorhabditis_elegans		WBGENE00007683

Protein

Protein identifiers

Translocation protein SEC62 — Q99442 (reviewed: Q99442)

Alternative names: Translocation protein 1

All UniProt accessions (4): Q99442, F8WCJ7, F8WDG8, F8WF48

UniProt curated annotations — full annotation on UniProt →

Function. Mediates post-translational transport of precursor polypeptides across endoplasmic reticulum (ER). Proposed to act as a targeting receptor for small presecretory proteins containing short and apolar signal peptides. Targets and properly positions newly synthesized presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen.

Subunit / interactions. The ER translocon complex that consists of channel-forming core components SEC61A1, SEC61B and SEC61G and different auxiliary components such as SEC62 and SEC63. Interacts with SEC61B.

Subcellular location. Endoplasmic reticulum membrane.

Similarity. Belongs to the SEC62 family.

RefSeq proteins (1): NP_003253* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004728	Sec62	Family

Pfam: PF03839

UniProt features (21 total): compositionally biased region 6, modified residue 6, topological domain 3, transmembrane region 2, region of interest 2, chain 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7BRT	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99442-F1	65.29	0.19

Functional residue map

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

Post-translational modifications (6): 158, 335, 341, 353, 356, 375

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 272 (showing top): GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TTTGTAG_MIR520D, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, AAGCCAT_MIR135A_MIR135B, MORF_ATRX, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, chr3q26, GOBP_MACROAUTOPHAGY, AGGCACT_MIR5153P, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, CATTTCA_MIR203, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (5): cotranslational protein targeting to membrane (GO:0006613), post-translational protein targeting to endoplasmic reticulum membrane (GO:0006620), post-translational protein targeting to membrane, translocation (GO:0031204), reticulophagy (GO:0061709), protein transport (GO:0015031)

GO Molecular Function (2): signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), rough endoplasmic reticulum (GO:0005791), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein targeting to membrane	2
protein targeting to ER	1
post-translational protein targeting to endoplasmic reticulum membrane	1
intracellular protein transmembrane transport	1
macroautophagy	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
molecular transducer activity	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1704 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEC62	SEC61A1	P38378	999
SEC62	SEC63	Q9UGP8	999
SEC62	SEC61G	P38384	926
SEC62	SEC61B	P38390	893
SEC62	RETREG1	Q9H6L5	883
SEC62	RTN3	O95197	819
SEC62	CCPG1	Q9ULG6	816
SEC62	ATL3	Q6DD88	800
SEC62	TEX264	Q9Y6I9	786
SEC62	BCL10	O95999	765
SEC62	HSPA5	P11021	718
SEC62	SIL1	Q9H173	684
SEC62	HYOU1	Q9Y4L1	684
SEC62	TMEM214	Q6NUQ4	670
SEC62	EXD2	Q9NVH0	670

IntAct

127 interactions, top by confidence:

A	B	Type	Score
COPG1	COPB2	psi-mi:“MI:0914”(association)	0.730
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
RETREG3	PLSCR1	psi-mi:“MI:0914”(association)	0.640
ASPH	STXBP3	psi-mi:“MI:0914”(association)	0.640
GET3	GET1	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
GABARAP	SEC62	psi-mi:“MI:0407”(direct interaction)	0.590
GYPB	TCAF2	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
KDELR1	TRAFD1	psi-mi:“MI:0914”(association)	0.530
SLC39A11	GAPDHS	psi-mi:“MI:0914”(association)	0.530
GPR183	NRP1	psi-mi:“MI:0914”(association)	0.530
HEATR3	SLC27A2	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
TSPAN5	SC5D	psi-mi:“MI:0914”(association)	0.530
CLPSL1	TNFAIP1	psi-mi:“MI:0914”(association)	0.530
NCEH1	CLGN	psi-mi:“MI:0914”(association)	0.530
CXCR4	FANCA	psi-mi:“MI:0914”(association)	0.530
GPR183	GPC1	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
env	PGRMC1	psi-mi:“MI:0914”(association)	0.460
SEC62	GAPDH	psi-mi:“MI:0915”(physical association)	0.400
GLUD1	SEC62	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (608): SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Proximity Label-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS), SEC62 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GV96, A0MZ66, A0MZ67, A2VDA9, A5PJI6, A6NKN8, A8R4Q8, E7F7X0, O14990, O19021, O42932, O62770, O62771, P13505, P36425, P48539, P54866, P63054, P63055, P84086, P84087, P84088, Q04504, Q0P561, Q148C4, Q15506, Q28IH8, Q3UYG8, Q4R615, Q5F3A1, Q5M8L3, Q5R4Q3, Q5ZM33, Q62252, Q62736, Q6DBA5, Q6GNQ4, Q6NWC9, Q6P3G4, Q6PUV4

Diamond homologs: O13787, Q5AI21, Q5F3A1, Q5R4Q3, Q6BI99, Q6FRU9, Q8BU14, Q99161, Q99442, P21825, Q6CLZ9, Q75D26, P82009

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
SEC63	“up-regulates activity”	SEC62	binding
“SEC61 complex”	“up-regulates activity”	SEC62	binding
SEC62	up-regulates	Protein_translocation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 171 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
R-HSA-425366	6	9.9×	6e-03
SLC-mediated transmembrane transport	12	6.5×	1e-04
Transport of small molecules	20	4.6×	6e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1675 predictions. Top by Δscore:

Variant	Effect	Δscore
3:169975602:TTGCA:T	acceptor_loss	1.0000
3:169975603:TGCA:T	acceptor_loss	1.0000
3:169975604:GCAG:G	acceptor_loss	1.0000
3:169975605:CA:C	acceptor_loss	1.0000
3:169975606:A:AT	acceptor_loss	1.0000
3:169975607:GGAA:G	acceptor_gain	1.0000
3:169975689:A:G	donor_gain	1.0000
3:169975734:AAATC:A	donor_gain	1.0000
3:169976941:TTTA:T	acceptor_loss	1.0000
3:169976942:TTA:T	acceptor_loss	1.0000
3:169976944:A:AG	acceptor_gain	1.0000
3:169976945:G:GC	acceptor_gain	1.0000
3:169976945:GC:G	acceptor_gain	1.0000
3:169976945:GCTTC:G	acceptor_gain	1.0000
3:169977025:G:GT	donor_gain	1.0000
3:169977047:AACAG:A	donor_loss	1.0000
3:169977048:ACAG:A	donor_loss	1.0000
3:169977049:CAGG:C	donor_loss	1.0000
3:169977050:AG:A	donor_loss	1.0000
3:169977051:GG:G	donor_loss	1.0000
3:169977052:G:A	donor_loss	1.0000
3:169977053:T:A	donor_loss	1.0000
3:169980606:G:T	donor_gain	1.0000
3:169982908:AAAG:A	donor_gain	1.0000
3:169982910:AG:A	donor_gain	1.0000
3:169982911:GG:G	donor_gain	1.0000
3:169982912:G:GG	donor_gain	1.0000
3:169983144:AACTT:A	acceptor_gain	1.0000
3:169983150:T:TA	acceptor_gain	1.0000
3:169983159:A:AG	acceptor_gain	1.0000

AlphaMissense

2668 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:169975645:C:A	A25D	1.000
3:169975654:T:C	L28P	1.000
3:169975657:G:C	R29P	1.000
3:169982709:T:C	L85P	1.000
3:169982736:C:A	A94D	1.000
3:169983213:T:A	L170H	1.000
3:169983213:T:C	L170P	1.000
3:169983237:T:C	F178S	1.000
3:169985814:T:A	W187R	1.000
3:169985814:T:C	W187R	1.000
3:169985853:G:A	G200R	1.000
3:169985853:G:C	G200R	1.000
3:169985854:G:A	G200E	1.000
3:169985863:T:A	L203H	1.000
3:169988246:C:A	A206E	1.000
3:169988252:T:A	I208K	1.000
3:169988258:C:A	A210D	1.000
3:169988264:T:C	L212P	1.000
3:169988266:T:C	F213L	1.000
3:169988267:T:C	F213S	1.000
3:169988267:T:G	F213C	1.000
3:169988268:C:A	F213L	1.000
3:169988268:C:G	F213L	1.000
3:169988273:T:A	L215H	1.000
3:169988273:T:C	L215P	1.000
3:169988275:T:A	W216R	1.000
3:169988275:T:C	W216R	1.000
3:169988279:C:A	P217Q	1.000
3:169988297:G:A	G223D	1.000
3:169988300:T:A	V224D	1.000

dbSNP variants (sampled 300 via entrez): RS1000075558 (3:169988496 A>C,G), RS1000136105 (3:169995935 A>G), RS1000335840 (3:169968415 A>G), RS1000451966 (3:169967995 A>C,G), RS1000530971 (3:169981223 A>C), RS1000561259 (3:169973886 G>C,T), RS1000626390 (3:169975466 T>C), RS1000673078 (3:169967013 G>A), RS1000955830 (3:169967055 A>G,T), RS1000971914 (3:169994694 A>G), RS1001036627 (3:169973518 C>G,T), RS1001045399 (3:169975096 C>T), RS1001093892 (3:169987959 ATAAAT>A), RS1001222888 (3:169975368 C>T), RS1001231150 (3:169977435 A>G)

Disease associations

OMIM: gene MIM:602173 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002936_2	Cadmium levels	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067372 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.13	Kd	7486	nM	CHEMBL5653589
5.13	ED50	7486	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149370: Binding affinity to human SEC62 incubated for 45 mins by Kinobead based pull down assay	kd	7.4856	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects cotreatment, increases abundance, increases expression	3
trichostatin A	affects cotreatment, decreases expression	2
Arsenic	increases abundance, increases expression, increases ubiquitination, affects cotreatment	2
Valproic Acid	decreases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
uranyl acetate	affects expression	1
bisphenol A	increases expression	1
kojic acid	decreases expression	1
beta-lapachone	increases expression	1
arsenite	increases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
zinc chromate	increases expression, increases abundance	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
pentanal	decreases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
pyrachlostrobin	increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
bisphenol S	increases expression	1
picoxystrobin	increases expression	1
NSC 689534	affects binding, decreases expression	1
bisphenol AF	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Acetaminophen	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652412	Binding	Binding affinity to human SEC62 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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