PREB

Summary

PREB (prolactin regulatory element binding, HGNC:9356) is a protein-coding gene on chromosome 2p23.3, encoding Guanine nucleotide-exchange factor SEC12 (Q9HCU5). Guanine nucleotide exchange factor (GEF) that regulates the assembly of the coat protein complex II/COPII in endoplasmic reticulum (ER) to Golgi vesicle-mediated transport. It is a common-essential gene (DepMap: required in 97.0% of cancer cell lines).

This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand.

Source: NCBI Gene 10113 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 66 total
• Cancer dependency (DepMap): dependent in 97.0% of screened cell lines (common-essential)
• Transcription factor: yes — 26 downstream targets (CollecTRI)
• MANE Select transcript: NM_013388

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9356
Approved symbol	PREB
Name	prolactin regulatory element binding
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	SEC12
Ensembl gene	ENSG00000138073
Ensembl biotype	protein_coding
OMIM	606395
Entrez	10113

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 16 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000260643, ENST00000406567, ENST00000416802, ENST00000430533, ENST00000441451, ENST00000444452, ENST00000456259, ENST00000468045, ENST00000474802, ENST00000883719, ENST00000883720, ENST00000883721, ENST00000883722, ENST00000883723, ENST00000883724, ENST00000921642, ENST00000921643, ENST00000921644, ENST00000971833, ENST00000971834, ENST00000971835

RefSeq mRNA: 5 — MANE Select: NM_013388 NM_001330484, NM_001330485, NM_001330486, NM_001330487, NM_013388

CCDS: CCDS1738, CCDS82431

Canonical transcript exons

ENST00000260643 — 9 exons

Exon	Start	End
ENSE00000809079	27133532	27133721
ENSE00001883623	27134287	27134636
ENSE00003519541	27130756	27131508
ENSE00003528995	27132843	27132923
ENSE00003594519	27132010	27132082
ENSE00003626364	27132230	27132403
ENSE00003641231	27133117	27133337
ENSE00003652563	27131672	27131831
ENSE00003664128	27132603	27132727

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 96.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.0251 / max 115.3024, expressed in 1816 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27448	27.1244	1815
27447	2.9007	1454

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	96.46	gold quality
gastrocnemius	UBERON:0001388	96.43	gold quality
left uterine tube	UBERON:0001303	95.87	gold quality
muscle of leg	UBERON:0001383	95.79	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.72	gold quality
body of pancreas	UBERON:0001150	95.60	gold quality
apex of heart	UBERON:0002098	95.33	gold quality
body of uterus	UBERON:0009853	95.32	gold quality
right ovary	UBERON:0002118	95.21	gold quality
granulocyte	CL:0000094	94.63	gold quality
mucosa of transverse colon	UBERON:0004991	94.54	gold quality
adenohypophysis	UBERON:0002196	94.52	gold quality
right atrium auricular region	UBERON:0006631	93.98	gold quality
lower esophagus mucosa	UBERON:0035834	93.94	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.92	gold quality
muscle organ	UBERON:0001630	93.75	gold quality
pancreas	UBERON:0001264	93.73	gold quality
left ovary	UBERON:0002119	93.72	gold quality
minor salivary gland	UBERON:0001830	93.64	gold quality
body of stomach	UBERON:0001161	93.61	gold quality
islet of Langerhans	UBERON:0000006	93.55	gold quality
right adrenal gland	UBERON:0001233	93.41	gold quality
heart left ventricle	UBERON:0002084	93.37	gold quality
left adrenal gland cortex	UBERON:0035825	93.33	gold quality
pituitary gland	UBERON:0000007	93.26	gold quality
metanephros cortex	UBERON:0010533	93.13	gold quality
left adrenal gland	UBERON:0001234	93.09	gold quality
spleen	UBERON:0002106	93.08	gold quality
omental fat pad	UBERON:0010414	93.06	gold quality
peritoneum	UBERON:0002358	93.01	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	18.59

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

26 targets.

Target	Regulation
ABCA1	Unknown
ADAM2
ADIPOQ
ATP11C
CCL2	Unknown
CD19
CYP11B1
EPOR
GCK
GK
IFNA1
IGLL1
IL7
INPPL1
INS
POU1F1
PREB
PRKACA
PRL	Unknown
RAG2
RET
SCARB1
SLC18A2
TRH
UGT1A7
VPREB1

Upstream regulators (CollecTRI, top): EBF1, MAZ, NFKB, PBX1, POU1F1, PREB, REL, SPIC, TCF3

miRNA regulators (miRDB)

24 targeting PREB, 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-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-3074-5P	98.82	66.56	1414
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-1301-5P	98.09	66.62	495
HSA-MIR-6502-5P	98.09	66.73	495
HSA-MIR-6747-3P	97.73	64.84	1596
HSA-MIR-3620-5P	97.42	63.95	792
HSA-MIR-1587	96.95	64.03	932
HSA-MIR-635	96.00	65.54	687
HSA-MIR-6774-5P	95.94	65.18	722

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 7)

• The transcriptional factor PREB mediates MCP-1 transcription induced by cytokines in human vascular endothelial cells. (PMID:19426980)
• PREB regulates the cAMP-mediated transcription of the ABCA1 gene in vascular smooth muscle cells (PMID:20643408)
• Sec12, a guanine-nucleotide exchange factor for Sar1 guanosine triphosphatase, is concentrated at endoplasmic reticulum exit sites and that this concentration of Sec12 is specifically required for the secretion of collagen VII but not other proteins. (PMID:25202031)
• These results indicate that PREB locates at the hepatitis C virus replication complex by interacting with NS4B. (PMID:26739056)
• Wls-SEC12 binding is stable, with the interacting interface biochemically mapped to cytosolic segments of individual proteins. Mutant Wls that fails to communicate with the COPII machinery cannot effectively support Wnt secretion. These data suggest that formation of early Wnt secretory vesicles is carefully regulated to ensure proper export of functional ligands (PMID:28515233)
• Administration of recombinant adenovirus containing human PREB to db/db, ob/ob, and DIO mice diminished glucose, insulin, and pyruvate tolerance indicating PREB to be a negative regulator of liver gluconeogenic genes. (PMID:29601978)
• Both cTAGE5 and SEC12 were exported with TANGO1 in large COPII carriers. (PMID:30545919)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	preb	ENSDARG00000101602
mus_musculus	Preb	ENSMUSG00000045302
rattus_norvegicus	Preb	ENSRNOG00000007141
drosophila_melanogaster	CG9175	FBGN0031779
caenorhabditis_elegans	sec-12	WBGENE00010496

Protein

Protein identifiers

Guanine nucleotide-exchange factor SEC12 — Q9HCU5 (reviewed: Q9HCU5)

Alternative names: Prolactin regulatory element-binding protein

All UniProt accessions (6): Q9HCU5, B5MC98, F8WCS5, H7BZX0, H7C0W3, H7C2N7

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide exchange factor (GEF) that regulates the assembly of the coat protein complex II/COPII in endoplasmic reticulum (ER) to Golgi vesicle-mediated transport. Selectively activates SAR1A and SAR1B by promoting the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP) in these small GTPases. In their activated GTP-bound state, SAR1A and SAR1B insert into the membrane of the endoplasmic reticulum where they recruit the remainder of the coat protein complex II/COPII which is responsible for both the sorting of proteins and the deformation and budding of membranes into vesicles destined to the Golgi. Was first identified based on its probable role in the regulation of pituitary gene transcription. Binds to the prolactin gene (PRL) promoter and seems to activate transcription.

Subunit / interactions. Interacts with SAR1B (GDP-bound form). Interacts with MIA2; recruits PREB to endoplasmic reticulum exit sites. Interacts with CIDEB; facilitating loading of SCAP-SREBP into COPII vesicles.

Subcellular location. Endoplasmic reticulum membrane. Nucleus.

Tissue specificity. Ubiquitous.

RefSeq proteins (5): NP_001317413, NP_001317414, NP_001317415, NP_001317416, NP_037520* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR011047	Quinoprotein_ADH-like_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR045260	Sec12-like	Family

Pfam: PF00400

UniProt features (51 total): strand 30, repeat 7, turn 4, topological domain 2, helix 2, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, sequence conflict 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5TF2	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCU5-F1	88.33	0.75

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 (1): 10

Function

Pathways and Gene Ontology

Reactome pathways

14 pathways

ID	Pathway
R-HSA-204005	COPII-mediated vesicle transport
R-HSA-381038	XBP1(S) activates chaperone genes
R-HSA-5694530	Cargo concentration in the ER
R-HSA-199977	ER to Golgi Anterograde Transport
R-HSA-199991	Membrane Trafficking
R-HSA-2262752	Cellular responses to stress
R-HSA-381070	IRE1alpha activates chaperones
R-HSA-381119	Unfolded Protein Response (UPR)
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5653656	Vesicle-mediated transport
R-HSA-597592	Post-translational protein modification
R-HSA-8953897	Cellular responses to stimuli
R-HSA-948021	Transport to the Golgi and subsequent modification

MSigDB gene sets: 177 (showing top): REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, TGCGCANK_UNKNOWN, GOBP_VESICLE_LOCALIZATION, GOBP_VESICLE_ORGANIZATION, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, TGCTGAY_UNKNOWN, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_LIPOPROTEIN_LOCALIZATION, MYB_Q3

GO Biological Process (7): obsolete regulation of COPII vesicle coating (GO:0003400), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), lipoprotein transport (GO:0042953), COPII vesicle coat assembly (GO:0048208), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), COPII-coated vesicle cargo loading (GO:0090110)

GO Molecular Function (4): DNA binding (GO:0003677), guanyl-nucleotide exchange factor activity (GO:0005085), GTPase binding (GO:0051020), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum exit site (GO:0070971), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
ER to Golgi Anterograde Transport	2
IRE1alpha activates chaperones	1
Membrane Trafficking	1
Transport to the Golgi and subsequent modification	1
Vesicle-mediated transport	1
Cellular responses to stimuli	1
Unfolded Protein Response (UPR)	1
Cellular responses to stress	1
Post-translational protein modification	1
Metabolism of proteins	1
Asparagine N-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
intracellular transport	2
COPII-coated vesicle budding	2
transport	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
intercellular transport	1
Golgi vesicle transport	1
protein transport	1
lipoprotein localization	1
vesicle coat assembly	1
protein-containing complex assembly	1
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
vesicle cargo loading	1
nucleic acid binding	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
enzyme binding	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum	1
endomembrane system	1

Protein interactions and networks

STRING

1516 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PREB	MIA2	Q96PC5	985
PREB	SEC13	P55735	972
PREB	SEC24B	O95487	965
PREB	SAR1A	Q9NR31	961
PREB	SEC16A	O15027	948
PREB	SAR1B	Q9Y6B6	917
PREB	SEC31A	O94979	895
PREB	SEC24A	O95486	883
PREB	ABHD1	Q96SE0	854
PREB	RER1	O15258	833
PREB	SEC23A	Q15436	827
PREB	MIA3	Q5JRA6	785
PREB	SEC24D	O94855	780
PREB	GOLPH3	Q9H4A6	776
PREB	SEC23B	Q15437	770

IntAct

134 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SLC39A5	FAM171A2	psi-mi:“MI:0914”(association)	0.640
OCLN	DNAJC13	psi-mi:“MI:0914”(association)	0.530
ANO6	CDC27	psi-mi:“MI:0914”(association)	0.530
	XPO1	psi-mi:“MI:0914”(association)	0.530
ANO4	ANO6	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530
MIA2	MIA3	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
vpu	SCAMP3	psi-mi:“MI:0914”(association)	0.460
GTPBP4	PREB	psi-mi:“MI:0915”(physical association)	0.400
Preb	PREB	psi-mi:“MI:0915”(physical association)	0.400
HSP90AB1	PREB	psi-mi:“MI:0915”(physical association)	0.400
NUDC	PREB	psi-mi:“MI:0915”(physical association)	0.400
		psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
BVLF1	VWA8	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350

BioGRID (252): PREB (Proximity Label-MS), PREB (Proximity Label-MS), PREB (Proximity Label-MS), PREB (Proximity Label-MS), PREB (Proximity Label-MS), PREB (Proximity Label-MS), PREB (Proximity Label-MS), PREB (Affinity Capture-MS), PREB (Affinity Capture-MS), PREB (Affinity Capture-MS), PREB (Affinity Capture-MS), PREB (Affinity Capture-Western), PREB (Affinity Capture-MS), PREB (Affinity Capture-MS), PREB (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5PJB7, A0A1L8HX76, A6QR40, O08764, O60294, O95382, P10938, P70218, P97452, Q12851, Q14137, Q15334, Q16586, Q28686, Q32P44, Q3TJ91, Q499N3, Q499U2, Q4KLI9, Q561R2, Q562C2, Q5RBH8, Q5RCX2, Q61161, Q6AY79, Q6F5E8, Q6P1M3, Q6V7V2, Q7SZE3, Q7TMC8, Q80Y17, Q8BYZ7, Q8C3I8, Q8C6B2, Q8CHW4, Q8K4K5, Q8MKF0, Q8N0W3, Q8VC03, Q91WI7

Diamond homologs: A4D1P6, B2RYI0, Q05B30, Q2HJE1, Q5F3D7, Q5R6T6, Q5ZLL7, Q6TEN6, Q7TMQ7, Q9HCU5, Q9WTV0, Q9WUQ2, Q23533, Q68FJ6, Q54PE0, Q5R4T8, Q8VDD9, Q8WWQ0, A0CH87, A0DB19, A1CF18, A1CUD6, A1DP19, A2QP30, A4R3M4, A7EKM8, B0XM00, B2AEZ5, B2B766, B6GZD3, B6HP56, B6QC06, B6QC56, B8M0Q1, B8N9H4, B8P4B0, B8PD53, C0NRC6, C0S902, C1GB49

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
LTK	“down-regulates activity”	PREB	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 162 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
Amino acid transport across the plasma membrane	7	18.4×	6e-05
R-HSA-425366	6	9.5×	8e-03
SLC-mediated transmembrane transport	11	5.7×	1e-03
Transport of small molecules	15	3.3×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
amino acid transport	9	19.8×	8e-07
chloride transmembrane transport	6	10.0×	5e-03
transport across blood-brain barrier	7	8.8×	3e-03
response to ethanol	7	7.2×	7e-03
response to xenobiotic stimulus	10	4.9×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1440 predictions. Top by Δscore:

Variant	Effect	Δscore
2:27131670:A:AC	donor_gain	1.0000
2:27131670:ACGC:A	donor_gain	1.0000
2:27131671:C:CC	donor_gain	1.0000
2:27131671:CG:C	donor_gain	1.0000
2:27131671:CGCC:C	donor_gain	1.0000
2:27131671:CGCCG:C	donor_gain	1.0000
2:27131828:GGCA:G	acceptor_gain	1.0000
2:27131828:GGCAC:G	acceptor_loss	1.0000
2:27131829:GCAC:G	acceptor_loss	1.0000
2:27131830:CA:C	acceptor_gain	1.0000
2:27131831:AC:A	acceptor_loss	1.0000
2:27131832:C:CC	acceptor_gain	1.0000
2:27131832:CTGT:C	acceptor_loss	1.0000
2:27131833:T:C	acceptor_loss	1.0000
2:27132079:TTCA:T	acceptor_gain	1.0000
2:27132080:TCA:T	acceptor_gain	1.0000
2:27132081:CA:C	acceptor_gain	1.0000
2:27132081:CAC:C	acceptor_gain	1.0000
2:27132083:C:CC	acceptor_gain	1.0000
2:27132227:CA:C	donor_gain	1.0000
2:27132228:A:AT	donor_loss	1.0000
2:27132254:T:TA	donor_gain	1.0000
2:27132404:CTGGG:C	acceptor_loss	1.0000
2:27132723:ACCAA:A	acceptor_gain	1.0000
2:27132724:CCAA:C	acceptor_gain	1.0000
2:27132724:CCAAC:C	acceptor_gain	1.0000
2:27132725:CAAC:C	acceptor_gain	1.0000
2:27132726:AA:A	acceptor_gain	1.0000
2:27132727:AC:A	acceptor_loss	1.0000
2:27132728:C:CC	acceptor_gain	1.0000

AlphaMissense

2675 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27132303:A:G	W285R	0.992
2:27132303:A:T	W285R	0.992
2:27134293:A:C	N43K	0.992
2:27134293:A:T	N43K	0.992
2:27133609:G:T	A83D	0.991
2:27134380:G:C	F14L	0.991
2:27134380:G:T	F14L	0.991
2:27134382:A:G	F14L	0.991
2:27134327:C:T	G32D	0.989
2:27131719:G:A	S371F	0.988
2:27133122:A:G	W181R	0.988
2:27133122:A:T	W181R	0.988
2:27133717:A:G	F47S	0.988
2:27132019:G:C	F330L	0.987
2:27132019:G:T	F330L	0.987
2:27132021:A:G	F330L	0.987
2:27132301:C:A	W285C	0.987
2:27132301:C:G	W285C	0.987
2:27134330:G:T	A31E	0.987
2:27132038:A:T	V324D	0.986
2:27134294:T:A	N43I	0.986
2:27131708:C:G	D375H	0.985
2:27131707:T:A	D375V	0.983
2:27131719:G:T	S371Y	0.983
2:27133148:C:T	G172E	0.983
2:27133714:A:G	L48P	0.983
2:27131778:A:C	F351L	0.982
2:27131778:A:T	F351L	0.982
2:27131779:A:G	F351S	0.982
2:27131780:A:G	F351L	0.982

dbSNP variants (sampled 300 via entrez): RS1000375652 (2:27136241 C>A,T), RS1000427670 (2:27130334 A>T), RS1000700536 (2:27134783 A>T), RS1000767687 (2:27135956 T>C,G), RS1001454647 (2:27131710 A>C), RS1004230572 (2:27134116 C>T), RS1004661271 (2:27132885 G>A), RS1005226287 (2:27134766 A>C,G), RS1005546038 (2:27134626 A>C,G,T), RS1006330305 (2:27131570 C>A), RS1006950537 (2:27135698 C>A), RS1007113855 (2:27135391 C>G), RS1007684615 (2:27133449 C>G,T), RS1008960811 (2:27133230 G>A), RS1009414309 (2:27134658 G>A,C,T)

Disease associations

OMIM: gene MIM:606395 | 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
GCST010697_14	Cortical surface area (min-P)	2.000000e-09
GCST010698_75	Subcortical volume (min-P)	2.000000e-13
GCST010699_41	Brain morphology (min-P)	2.000000e-08
GCST010700_38	Cortical thickness (MOSTest)	3.000000e-08
GCST010701_56	Cortical surface area (MOSTest)	4.000000e-16
GCST010702_20	Subcortical volume (MOSTest)	2.000000e-64
GCST010703_76	Brain morphology (MOSTest)	1.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	3
Cyclosporine	increases expression	3
bisphenol A	affects expression, decreases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases expression, affects expression	2
Ozone	affects cotreatment, increases expression, increases abundance, affects expression	2
bisphenol F	increases expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
pirinixic acid	increases activity, increases expression, affects binding	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
bisphenol B	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	affects expression	1
Indomethacin	increases expression, affects cotreatment	1
Ivermectin	decreases expression	1
Ribonucleotides	affects binding	1
Dihydrotestosterone	increases expression	1
Dronabinol	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tunicamycin	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A5Q8	SEES3-1V human PREB, clone1	Embryonic stem cell	Male
CVCL_A5Q9	SEES3-1V human PREB, clone2	Embryonic stem cell	Male
CVCL_A5R0	SEES3-1V human PREB, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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