BCL2L12

Summary

BCL2L12 (BCL2 like 12, HGNC:13787) is a protein-coding gene on chromosome 19q13.33, encoding Bcl-2-like protein 12 (Q9HB09).

This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 83596 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 82 total
• MANE Select transcript: NM_138639

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13787
Approved symbol	BCL2L12
Name	BCL2 like 12
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000126453
Ensembl biotype	protein_coding
OMIM	610837
Entrez	83596

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 26 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000246784, ENST00000246785, ENST00000441864, ENST00000594157, ENST00000594793, ENST00000598306, ENST00000598979, ENST00000600947, ENST00000601168, ENST00000619007, ENST00000698553, ENST00000698554, ENST00000698555, ENST00000698556, ENST00000698557, ENST00000698558, ENST00000698559, ENST00000698560, ENST00000698561, ENST00000890457, ENST00000890458, ENST00000890459, ENST00000890460, ENST00000890461, ENST00000934038, ENST00000934039, ENST00000934040, ENST00000934041, ENST00000960043

RefSeq mRNA: 8 — MANE Select: NM_138639 NM_001040668, NM_001282516, NM_001282517, NM_001282519, NM_001282520, NM_001282521, NM_001385706, NM_138639

CCDS: CCDS12776, CCDS46144, CCDS74423, CCDS92664, CCDS92665, CCDS92666

Canonical transcript exons

ENST00000246784 — 7 exons

Exon	Start	End
ENSE00000721004	49667019	49667161
ENSE00003481246	49673698	49673916
ENSE00003502458	49668851	49668937
ENSE00003589352	49670216	49670488
ENSE00003639514	49669024	49669115
ENSE00003746992	49665933	49666067
ENSE00003973868	49666685	49666799

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 90.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7841 / max 213.6288, expressed in 1783 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177044	20.6348	1758
177043	5.1494	1376

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.32	gold quality
gastrocnemius	UBERON:0001388	90.02	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.73	gold quality
mucosa of transverse colon	UBERON:0004991	89.09	gold quality
muscle of leg	UBERON:0001383	89.08	gold quality
granulocyte	CL:0000094	88.38	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.02	gold quality
oocyte	CL:0000023	87.76	gold quality
right lobe of liver	UBERON:0001114	87.57	gold quality
vermiform appendix	UBERON:0001154	86.60	gold quality
right ovary	UBERON:0002118	86.38	gold quality
left ovary	UBERON:0002119	86.33	gold quality
body of pancreas	UBERON:0001150	86.19	gold quality
mucosa of stomach	UBERON:0001199	85.87	gold quality
bone marrow cell	CL:0002092	85.78	gold quality
apex of heart	UBERON:0002098	85.77	gold quality
spleen	UBERON:0002106	85.77	gold quality
body of uterus	UBERON:0009853	85.70	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.41	gold quality
left uterine tube	UBERON:0001303	85.40	gold quality
body of stomach	UBERON:0001161	85.35	gold quality
metanephros cortex	UBERON:0010533	85.17	gold quality
lower esophagus mucosa	UBERON:0035834	85.01	gold quality
transverse colon	UBERON:0001157	84.67	gold quality
left lobe of thyroid gland	UBERON:0001120	84.38	gold quality
stromal cell of endometrium	CL:0002255	84.34	gold quality
right atrium auricular region	UBERON:0006631	84.34	gold quality
right lobe of thyroid gland	UBERON:0001119	84.25	gold quality
right adrenal gland cortex	UBERON:0035827	84.22	gold quality
right uterine tube	UBERON:0001302	84.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-13	yes	19.98
E-ANND-3	yes	4.51

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

Literature-anchored findings (GeneRIF, showing 40)

• RT-PCR in 70 breast cancer tissues demonstrated that BCL2L12 positive breast tumors are mainly of lower stage (I/II) or grade (I/II) and BCL2L12 expression is positively related to disease-free and overall survival (PMID:12783122)
• The BCL2L12-A transcript appears to be of importance for colon cancer since its expression is associated with disease progression. (PMID:15493871)
• alphaB-crystallin is a Bcl2L12-induced oncoprotein that enables Bcl2L12 to block the activation of both effector caspases via distinct mechanisms, thereby contributing to Glioblastoma multiforme pathogenesis and its hallmark biological properties. (PMID:18669646)
• Our results suggest that BCL2L12 gene expression may represent a potential new biomarker for colon cancer (PMID:18844453)
• Bortezomib inhibited the proliferation of SHI-1 cells. Bcl2l12 mRNA expression was up-regulated, bcl-2 mRNA expression was down-regulated and bax mRNA expression was not changed. (PMID:18928586)
• Data suggest that BCL2L12 and BCL2L12A may play an important role in cisplatin-induced apoptosis in MDA-MB-231 breast cancer cells. (PMID:18930135)
• HSP70 was identified to interact with BCL2L12 and BCL2L12A and protected them from ubiquitinations and degradations in mammalian cells (PMID:19376117)
• Results indicate and support the hypothesis that the apoptosis-related genes BCL2 and BCL2L12 respond similarly to treatment (PMID:19723066)
• both BCL2L12 and BCL2L12A have negative effects on cell growths, and that BCL2L12A is a potential cell cycle regulator that interferes with G2-M transition (PMID:19763795)
• these results open new horizons for the possible application of BCL2L12 as a novel prognostic indicator of gastric cancer. (PMID:19903463)
• Data indicate BCL2L12 expression to be an unfavorable and independent prognostic indicator of short-term relapse in nasopharyngeal carcinoma. (PMID:21152697)
• BCL2L12 mRNA expression is significantly higher in CLL patients than in healthy blood donors. (PMID:21737576)
• The BCL2L12(153-191) fragment directly interrupted GSK3beta mediated Tau phosphorylation. (PMID:22262180)
• studies began to define the molecular mechanisms underlying therapy resistance of GBM tumors, and pointed to the Bcl-2 protein family, in particular the atypical member Bcl2-Like 12 (Bcl2L12), as important regulators of therapy-induced cell death (PMID:22431925)
• Molecular cloning of novel alternatively spliced variants of BCL2L12, a new member of the BCL2 gene family, and their expression analysis in cancer cells. (PMID:22664385)
• BCL2L12 can be considered as a new independent prognostic and chemotherapy response marker in acute myeloid leukemia. (PMID:22728012)
• results suggest BCL2L12 mRNA expression may serve as potential prognostic biomarker in tongue and/or larynx SCC, which principally constitute great majority of HNSCC cases worldwide. (PMID:22747515)
• Bcl2L12 expression efficiently discriminates chronic lymphocytic leukemia cases from healthy controls but did not reflect their clinical characteristics (PMID:23292833)
• cisplatin treatment induced a time-dependent apoptosis in glioblastoma cells, at least partially via downregulation of BCL2L12 gene expression. (PMID:23708917)
• Data indicate that BCL2L12 expression levels were associated with poor disease-free survival of the high-grade TaT1 bladder cancer patients. (PMID:23790536)
• Protein made from F17F mutant BCL2L12 transcript bound p53, inhibited UV-induced apoptosis more efficiently than WT BCL2L12, and reduced endogenous p53 target gene transcription. (PMID:23901115)
• Acute myeloid leukemia patients have a lower level of BCL2L12 gene expression. (PMID:24078567)
• Bcl2L12 was previously shown to inhibit apoptosis through binding to caspase 7. (PMID:24339738)
• Data indicate that BCL2-like 12 (proline rich) protein BCL2L12 mRNA levels can distinguish women with breast cancer from healthy controls. (PMID:25230343)
• Bcl2L12 retains a BH3-like domain, which is important for its anti-apoptotic property. (PMID:25586056)
• Results show that high Bcl2L12 mRNA expression was associated with the high-grade breast cancer and triple-negative (TNBC) subtype. Also, the interplay between Bcl2L12 and its variant may be associated with high lymph node metastasis in non-TNBC tumors. (PMID:26082034)
• CD82 regulated BCL2L12 expression via STAT5A and AKT signaling and stimulated proliferation and engrafting of leukemia cells. (PMID:26260387)
• miR-125a-5p inhibits cell proliferation and induces apoptosis in colon cancer cells via targeting BCL2, BCL2L12 and Mcl-1. (PMID:26297542)
• Identify 50 novel BCL2L12 splice variants in human tumor cell lines. (PMID:26797417)
• BCL2L12 is a new prognostic biomarker for favorable outcome in diffuse large B-cell lymphoma patients on rituximab. (PMID:27442703)
• TNF-alpha suppresses IL-10 in peripheral B cells via up-regulating Bcl2L12 in patients with ulcerative colitis. (PMID:28120341)
• Activation of PAR2 inhibits the expression of IL-10 in B cells, which can be reversed by treating B cells with Bcl2L12 shRNA-carrying liposomes. (PMID:28426164)
• stress hormone cortisol suppresses p53 in hepatocellular carcinoma via enhancing Bcl2L12 expression (PMID:29043595)
• Bcl2L12 is a critical factor in the induction of aberrant Th2 polarization by upregulating Th2 responses and downregulating Th2 cell apoptosis (PMID:29884701)
• Bcl2L12 plays a crucial role in the induction of Th2 polarization and allergic response in the intestine. The Bcl2L12 in CD4(+) T cells may be a potential target for the treatment of food allergy. (PMID:30194965)
• Peripheral CD4+ T cells express high levels of Bcl2L12 in patients with ulcerative colitis. Bcl2L12 mediates PAR2-induced Th2 cell development to promote inflammation in the pathogenesis of ulcerative colitis. (PMID:30217509)
• Bcl2L12 is positively correlated with Th2 cytokine levels in the nasal mucosa of chronic rhinosinusitis with accompanying nasal allergy (CRSa) patients. Bcl2L12 contributes to the Th2 polarization, which may be a novel therapeutic target in the treatment of CRSa. (PMID:30281927)
• Increased BCL2L12 v.4 mRNA expression was associated with markers of unfavorable prognosis namely, advanced tumor, ER- (p=0.015)/PR-, Ki-67-positivity and high NPI (Nottingham prognostic index) score (PMID:30325729)
• BCL2L12 protein expression could be used as a favorable prognostic tissue biomarker in patients with primary advanced-stage LSCC. On the contrary, BCL2 and BAX did not correlate with prognosis in patients with primary LSCC. (PMID:31104007)
• In this study, we explored co-delivery of a TRAIL expressing plasmid (pTRAIL) and complementary small interfering RNAs (siRNAs) (silencing Bcl2-like 12 [BCL2L12] and superoxide dismutase 1 [SOD1]) to improve the response of breast cancer cells against TRAIL therapy (PMID:31547718)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	bcl2l12	ENSDARG00000090625
mus_musculus	Bcl2l12	ENSMUSG00000003190
rattus_norvegicus	Bcl2l12	ENSRNOG00000020486

Paralogs (1): BCL2L14 (ENSG00000121380)

Protein

Protein identifiers

Bcl-2-like protein 12 — Q9HB09 (reviewed: Q9HB09)

Alternative names: Bcl-2-related proline-rich protein

All UniProt accessions (11): Q9HB09, A0A0X8ASA9, A0A0X8AT33, A0A0X8AT42, A0A0X8AXX1, A0A0X9JZX1, A0A109PLW1, A0A120HB06, M0QZM6, M0R1K0, M0R1Z8

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is primarily expressed in skeletal muscle.

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

Similarity. Belongs to the Bcl-2 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9HB09-1	1	yes
Q9HB09-2	2
Q9HB09-3	3

RefSeq proteins (8): NP_001035758, NP_001269445, NP_001269446, NP_001269448, NP_001269449, NP_001269450, NP_001372635, NP_619580* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR036834	Bcl-2-like_sf	Homologous_superfamily

UniProt features (16 total): modified residue 9, splice variant 3, chain 1, region of interest 1, sequence conflict 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HB09-F1	67.61	0.02

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 (9): 161, 189, 29, 33, 37, 60, 111, 158, 159

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 107 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, GOBP_CELLULAR_SENESCENCE, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_DNA_DAMAGE_RESPONSE, GOBP_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR

GO Biological Process (6): apoptotic process (GO:0006915), negative regulation of apoptotic process (GO:0043066), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166), negative regulation of cellular senescence (GO:2000773), regulation of apoptotic process (GO:0042981)

GO Molecular Function (2): p53 binding (GO:0002039), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
apoptotic process	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	1
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1
negative regulation of cellular process	1
cellular senescence	1
regulation of cellular senescence	1
regulation of programmed cell death	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

700 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BCL2L12	BCL2	P10415	809
BCL2L12	CASP7	P55210	799
BCL2L12	RRAS	P10301	698
BCL2L12	BCL2L1	Q07817	545
BCL2L12	PRMT1	Q99873	531
BCL2L12	CASP3	P42574	500
BCL2L12	CYCS	P00001	483
BCL2L12	IRF3	Q14653	430
BCL2L12	PRRG2	O14669	420
BCL2L12	MCL1	Q07820	416
BCL2L12	HSPA4	P34932	411
BCL2L12	KSR2	Q6VAB6	405
BCL2L12	BCL2L14	Q9BZR8	400
BCL2L12	IRF7	Q92985	395
BCL2L12	BCL2L13	Q9BXK5	394

IntAct

18 interactions, top by confidence:

A	B	Type	Score
BAX	BCL2L12	psi-mi:“MI:0915”(physical association)	0.550
DNAJC30	NDUFS8	psi-mi:“MI:0914”(association)	0.530
CIRBP	PRMT5	psi-mi:“MI:0914”(association)	0.530
BCL2L1	BCL2L12	psi-mi:“MI:0915”(physical association)	0.370
BCL2	BCL2L12	psi-mi:“MI:0915”(physical association)	0.370
GSK3B	BCL2L12	psi-mi:“MI:0915”(physical association)	0.370
SGTA	BCL2L12	psi-mi:“MI:0915”(physical association)	0.370
BCL2L12	AMY2A	psi-mi:“MI:0914”(association)	0.350
GYPA	HYKK	psi-mi:“MI:0914”(association)	0.350
S100A6	VWA8	psi-mi:“MI:0914”(association)	0.350
CALML3	MYO1C	psi-mi:“MI:0914”(association)	0.350
BCL2L12	PRORP	psi-mi:“MI:0914”(association)	0.350
BCL2L12	MCM3AP	psi-mi:“MI:0914”(association)	0.350
KLK4	SERPINA1	psi-mi:“MI:0914”(association)	0.350
BCL2L12	NPR2	psi-mi:“MI:0914”(association)	0.350
INSR	UBXN8	psi-mi:“MI:0914”(association)	0.350

BioGRID (60): PPP1R9A (Affinity Capture-MS), AMY2A (Affinity Capture-MS), BAX (Affinity Capture-MS), TP53 (Reconstituted Complex), AMY2A (Affinity Capture-MS), BAX (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), BCL2L12 (Affinity Capture-RNA), BCL2L1 (Two-hybrid), BCL2 (Two-hybrid), BAX (Two-hybrid), BCL2L12 (Two-hybrid), BCL2L12 (Proximity Label-MS), BCL2L12 (Affinity Capture-RNA), GFM2 (Affinity Capture-MS)

ESM2 similar proteins: A2A3L6, A5PJC7, A6NCS6, A6NGR9, A8VU90, D2I4M3, E1BDF2, P03972, P27106, P49000, P79295, Q14296, Q17RC7, Q17RM4, Q3MIN7, Q3T0Y9, Q3UK37, Q3UR50, Q3UR97, Q3UV16, Q400G9, Q53GL7, Q58EX7, Q642B3, Q6NUI2, Q6PJG6, Q6ZUA9, Q6ZW31, Q810I0, Q86SX3, Q86XR2, Q8BH06, Q8BP97, Q8CAI1, Q8K4C2, Q8N398, Q8NAC3, Q8NAG6, Q8TE82, Q969T3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
GSK3B	up-regulates	BCL2L12	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1282 predictions. Top by Δscore:

Variant	Effect	Δscore
19:49668844:A:AG	acceptor_gain	1.0000
19:49668845:C:G	acceptor_gain	1.0000
19:49668849:A:AG	acceptor_gain	1.0000
19:49668850:G:GT	acceptor_gain	1.0000
19:49668934:CCAGG:C	donor_loss	1.0000
19:49668935:CAGGT:C	donor_loss	1.0000
19:49668936:AGG:A	donor_loss	1.0000
19:49668937:GGT:G	donor_loss	1.0000
19:49668938:G:C	donor_loss	1.0000
19:49669022:A:AG	acceptor_gain	1.0000
19:49669022:A:C	acceptor_loss	1.0000
19:49669023:G:GG	acceptor_gain	1.0000
19:49669023:GAA:G	acceptor_gain	1.0000
19:49664670:GCAC:G	donor_loss	0.9900
19:49664671:CA:C	donor_loss	0.9900
19:49664672:A:AT	donor_loss	0.9900
19:49664673:C:CG	donor_loss	0.9900
19:49664693:T:TA	donor_gain	0.9900
19:49666798:AGG:A	donor_loss	0.9900
19:49666799:GGT:G	donor_loss	0.9900
19:49666800:G:GG	donor_gain	0.9900
19:49666800:GTAAG:G	donor_loss	0.9900
19:49666801:T:A	donor_loss	0.9900
19:49667018:GAA:G	acceptor_gain	0.9900
19:49668845:CCCCA:C	acceptor_gain	0.9900
19:49668846:CCCA:C	acceptor_gain	0.9900
19:49668847:CCAG:C	acceptor_gain	0.9900
19:49668848:CAGGC:C	acceptor_gain	0.9900
19:49668849:A:AT	acceptor_gain	0.9900
19:49668849:AG:A	acceptor_gain	0.9900

AlphaMissense

1561 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:49670488:G:C	W318C	0.992
19:49670488:G:T	W318C	0.992
19:49670486:T:A	W318R	0.989
19:49670486:T:C	W318R	0.989
19:49670469:T:C	I312T	0.985
19:49670456:T:C	F308L	0.984
19:49670458:C:A	F308L	0.984
19:49670458:C:G	F308L	0.984
19:49670467:G:C	W311C	0.984
19:49670467:G:T	W311C	0.984
19:49670393:A:C	S287R	0.983
19:49670395:C:A	S287R	0.983
19:49670395:C:G	S287R	0.983
19:49670465:T:A	W311R	0.983
19:49670465:T:C	W311R	0.983
19:49670435:A:C	S301R	0.982
19:49670437:C:A	S301R	0.982
19:49670437:C:G	S301R	0.982
19:49670270:T:C	F246L	0.979
19:49670272:C:A	F246L	0.979
19:49670272:C:G	F246L	0.979
19:49670457:T:C	F308S	0.976
19:49670469:T:G	I312S	0.974
19:49666750:T:C	F104L	0.972
19:49666752:C:A	F104L	0.972
19:49666752:C:G	F104L	0.972
19:49668868:T:C	F174L	0.969
19:49668870:C:A	F174L	0.969
19:49668870:C:G	F174L	0.969
19:49670376:C:A	A281D	0.968

dbSNP variants (sampled 300 via entrez): RS1000060931 (19:49665657 G>A,C,T), RS1000090313 (19:49665715 C>G), RS1000505753 (19:49663635 A>G), RS1001002761 (19:49671561 C>G), RS1001036620 (19:49670038 C>T), RS1001101629 (19:49665031 C>T), RS1001282160 (19:49665532 G>A), RS1002437839 (19:49669707 G>T), RS1002530853 (19:49665247 A>G), RS1002619985 (19:49664396 T>C,G), RS1002792674 (19:49671434 G>A,T), RS1003172862 (19:49671194 G>A), RS1003537960 (19:49663772 T>G), RS1003565805 (19:49664039 G>A,C), RS1004024873 (19:49666151 C>G,T)

Disease associations

OMIM: gene MIM:610837 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004785_16	Vitiligo	2.000000e-09
GCST006803_99	Schizophrenia	4.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	decreases expression, increases expression	3
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	decreases expression	1
trichostatin A	affects expression	1
sodium arsenite	affects expression	1
ochratoxin A	decreases expression, affects cotreatment	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	decreases methylation	1
4-aminophenylarsenoxide	decreases reaction, affects binding	1
abrine	increases expression	1
MT19c compound	decreases expression	1
Oxaliplatin	affects expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Arsenic	affects methylation	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Calcitriol	decreases expression, affects cotreatment	1
Cisplatin	decreases expression	1
Citrinin	affects cotreatment, decreases expression, increases expression	1
Coumestrol	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Dimethyl Sulfoxide	increases expression	1
Docosahexaenoic Acids	affects cotreatment, decreases expression	1
Fluorouracil	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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