AKIP1

Summary

AKIP1 (A-kinase interacting protein 1, HGNC:1170) is a protein-coding gene on chromosome 11p15.4, encoding A-kinase-interacting protein 1 (Q9NQ31). Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA.

This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene.

Source: NCBI Gene 56672 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 10 total — 2 pathogenic
• MANE Select transcript: NM_020642

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1170
Approved symbol	AKIP1
Name	A-kinase interacting protein 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	BCA3
Ensembl gene	ENSG00000166452
Ensembl biotype	protein_coding
OMIM	609191
Entrez	56672

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 28 protein_coding

ENST00000299576, ENST00000309357, ENST00000309377, ENST00000396648, ENST00000524577, ENST00000525005, ENST00000529876, ENST00000529942, ENST00000530281, ENST00000534147, ENST00000534506, ENST00000886249, ENST00000886250, ENST00000886251, ENST00000886252, ENST00000886253, ENST00000886254, ENST00000886255, ENST00000886256, ENST00000886257, ENST00000918399, ENST00000918400, ENST00000918401, ENST00000918402, ENST00000918403, ENST00000918404, ENST00000918405, ENST00000968054

RefSeq mRNA: 4 — MANE Select: NM_020642 NM_001206646, NM_001206647, NM_001206648, NM_020642

CCDS: CCDS55743, CCDS55744, CCDS7793

Canonical transcript exons

ENST00000309377 — 6 exons

Exon	Start	End
ENSE00001268920	8917287	8917367
ENSE00001268926	8914826	8914930
ENSE00001336533	8911444	8911671
ENSE00002141809	8911189	8911223
ENSE00003539706	8912453	8912533
ENSE00003892432	8919337	8920079

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 95.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.7033 / max 76.3060, expressed in 1798 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112950	13.2153	1783
112949	1.5074	929
112952	1.1724	589
112951	0.8083	498

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.91	gold quality
secondary oocyte	CL:0000655	92.82	gold quality
right adrenal gland cortex	UBERON:0035827	92.19	gold quality
right adrenal gland	UBERON:0001233	91.85	gold quality
left adrenal gland cortex	UBERON:0035825	91.18	gold quality
left adrenal gland	UBERON:0001234	91.13	gold quality
stromal cell of endometrium	CL:0002255	90.35	gold quality
adrenal cortex	UBERON:0001235	90.30	gold quality
adrenal gland	UBERON:0002369	89.78	gold quality
descending thoracic aorta	UBERON:0002345	89.23	gold quality
thoracic aorta	UBERON:0001515	89.04	gold quality
lower esophagus muscularis layer	UBERON:0035833	89.02	gold quality
lower esophagus	UBERON:0013473	89.01	gold quality
germinal epithelium of ovary	UBERON:0001304	89.00	gold quality
ascending aorta	UBERON:0001496	88.99	gold quality
right coronary artery	UBERON:0001625	88.91	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.63	gold quality
aorta	UBERON:0000947	88.56	gold quality
right atrium auricular region	UBERON:0006631	88.45	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.44	gold quality
popliteal artery	UBERON:0002250	88.33	gold quality
tibial artery	UBERON:0007610	88.32	gold quality
heart left ventricle	UBERON:0002084	88.17	gold quality
apex of heart	UBERON:0002098	88.17	gold quality
anterior cingulate cortex	UBERON:0009835	88.04	gold quality
left coronary artery	UBERON:0001626	87.97	gold quality
cingulate cortex	UBERON:0003027	87.95	gold quality
cardiac ventricle	UBERON:0002082	87.94	gold quality
gastrocnemius	UBERON:0001388	87.88	gold quality
muscle of leg	UBERON:0001383	87.86	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.69

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB, NKX2-8, RELA

miRNA regulators (miRDB)

35 targeting AKIP1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-4742-5P	98.89	68.41	1542

Literature-anchored findings (GeneRIF, showing 24)

• characterization of the BCA3 gene; BCA3 is expressed in breast tumor cells in vivo, and not in surrounding stromal tissue (PMID:12527432)
• AKIP1 describes a PKA-interacting protein that can contribute to localization by a mechanism that is distinct from A-kinase anchoring proteins that interact with the regulatory subunits. (PMID:15630084)
• AKIP1 colocalized with p65 within the cells and appeared to retain p65 in nucleus. (PMID:18178962)
• action of PKA signaling on the NF-kappaB activation cascade (PMID:20562110)
• Data indicate A-kinase interacting protein 1 (AKIP1) as a critical molecular regulator and a therapeutic control point for stress adaptation in the heart. (PMID:23319652)
• Data indicate an important role for A-kinase-interacting protein 1 (AKIP1) in esophageal squamous cell carcinoma (ESCC) angiogenesis and lymphangiogenesis. (PMID:24413079)
• Expression of BCA3 did not affect Mason-Pfizer money virus (MPMV) particle release and proteolytic processing; however, it slightly increased MPMV infectivity. (PMID:24659101)
• The absence of exon 3 and exon 5 influenced the subcellular localization of BCA3 and nuclear factor kappa B (NF-kB)-dependent gene expression. (PMID:25526186)
• The pleiotropic effects of BCA3 in HCC progression. (PMID:29133128)
• These results show that AKIP1 is crucial in cervical cancer angiogenesis and growth by elevating the levels of the NF-kappaB-dependent chemokines CXCL1, CXCL2, and CXCL8. (PMID:29520695)
• Breast carcinoma-associated protein (BCA3) is packaged into Human immunodeficiency virus 1 (HIV-1) particles, and the BCA3 C-terminus is responsible for this incorporation. BCA3 incorporation into HIV-1 particles is mediated by its ability to interact with the catalytic subunit of protein kinase A. There is no effect of incorporated BCA3 on HIV-1 infectivity. (PMID:29677171)
• findings not only establish AKIP1 as a novel regulator of Wnt/beta-catenin signaling as well as hepatocellular carcinoma (HCC) early recurrence but also highlight targeting the AKIP1/beta-catenin/CBP axis as attractive therapies for combating HCC metastatic relapse (PMID:30936461)
• Up-regulation of AKIP1 is associated with metastasis and epithelial-mesenchymal transition of gastric cancer. (PMID:31020809)
• A-kinase interacting protein 1 might serve as a novel biomarker for worse prognosis through the interaction of chemokine (C-X-C motif) ligand 1/chemokine (C-X-C motif) ligand 2 in acute myeloid leukemia. (PMID:31617252)
• A-kinase interacting protein 1 (AKIP1) associates with advanced overall disease condition, tumor properties, and unfavorable prognosis in hepatocellular carcinoma patients. (PMID:32133702)
• Identification of A-kinase interacting protein 1 as a potential biomarker for risk and prognosis of acute myeloid leukemia. (PMID:32356617)
• A-kinase-interacting protein 1 promotes EMT and metastasis via PI3K/Akt/IKKbeta pathway in cervical cancer. (PMID:32401379)
• A-kinase interacting protein 1 as a potential biomarker of advanced tumor features and increased recurrence risk in papillary thyroid carcinoma patients. (PMID:32643206)
• Correlation of A-Kinase Interacting Protein 1 With Clinical Features, Treatment Response, and Survival Profiles in Patients With Multiple Myeloma. (PMID:32799782)
• A-kinase interacting protein 1 is sufficiently expressed and positively associates with WHO grade, meanwhile predicts unfavorable overall survival independently in glioma patients. (PMID:33530151)
• Upregulation of a kinase interacting protein 1 in tongue squamous cell carcinoma correlates with lymph node metastasis and poor overall survival. (PMID:33832094)
• PKA and AKIP1 interact to mediate cAMP-driven COX-2 expression: A potentially pivotal interaction in preterm and term labour. (PMID:34166397)
• Silencing of AKIP1 Suppresses the Proliferation, Migration, and Epithelial-Mesenchymal Transition Process of Glioma Cells by Upregulating DLG2. (PMID:35111846)
• Ebola virus VP35 hijacks the PKA-CREB1 pathway for replication and pathogenesis by AKIP1 association. (PMID:35474062)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	akip1	ENSDARG00000069037
mus_musculus	Akip1	ENSMUSG00000031023
rattus_norvegicus	Akip1	ENSRNOG00000013744

Protein

Protein identifiers

A-kinase-interacting protein 1 — Q9NQ31 (reviewed: Q9NQ31)

Alternative names: Breast cancer-associated gene 3 protein, PKA-interacting protein, Proline-rich protein BCA3

All UniProt accessions (6): B4DGE2, E9PN38, E9PNI1, E9PPN7, Q9NQ31, H0YCH8

UniProt curated annotations — full annotation on UniProt →

Function. Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade.

Subunit / interactions. Interacts with PRKACA and RELA.

Subcellular location. Nucleus.

Tissue specificity. Expressed at high levels in adult heart and at lower levels in brain, testis, ovary and skeletal muscle. Up-regulated in some breast cancer cell lines. Isoform 1 and isoform 3 are expressed in fetal brain.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NQ31-1	1, 1a	yes
Q9NQ31-2	2
Q9NQ31-3	3, 1b

RefSeq proteins (4): NP_001193575, NP_001193576, NP_001193577, NP_065693* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033214	AKIP1	Family

UniProt features (9 total): region of interest 2, splice variant 2, sequence variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQ31-F1	68.94	0.27

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 102 (showing top): GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_REGULATION_OF_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING, DODD_NASOPHARYNGEAL_CARCINOMA_UP, TAATGTG_MIR323, GOBP_CELL_SUBSTRATE_ADHESION, AACTGGA_MIR145, BRUINS_UVC_RESPONSE_LATE, KOINUMA_TARGETS_OF_SMAD2_OR_SMAD3, LIM_MAMMARY_STEM_CELL_DN, CSR_EARLY_UP.V1_DN, GSE14699_DELETIONAL_TOLERANCE_VS_ACTIVATED_CD8_TCELL_DN, SETD7_TARGET_GENES, UBN1_TARGET_GENES

GO Biological Process (2): substrate adhesion-dependent cell spreading (GO:0034446), regulation of non-canonical NF-kappaB signal transduction (GO:1901222)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-substrate adhesion	1
non-canonical NF-kappaB signal transduction	1
regulation of intracellular signal transduction	1
binding	1
nuclear lumen	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

304 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AKIP1	PRKACA	P17612	797
AKIP1	PRKACB	P22694	796
AKIP1	PRKACG	P22612	783
AKIP1	AURKAIP1	Q9NWT8	642
AKIP1	DHRS7C	A6NNS2	607
AKIP1	RELA	Q04206	526
AKIP1	SIRT1	Q96EB6	438
AKIP1	RNF115	Q9Y4L5	400
AKIP1	NEDD8	Q15843	370
AKIP1	CIB1	Q99828	355
AKIP1	CD47	Q08722	352
AKIP1	IDO1	P14902	350
AKIP1	SENP8	Q96LD8	348
AKIP1	UBE2N	P61088	347
AKIP1	NKX2-8	O15522	340

IntAct

142 interactions, top by confidence:

A	B	Type	Score
AKIP1	POC1A	psi-mi:“MI:0914”(association)	0.610
AKIP1	PRKACA	psi-mi:“MI:0915”(physical association)	0.580
PRKACA	AKIP1	psi-mi:“MI:0915”(physical association)	0.580
FHL2	AKIP1	psi-mi:“MI:0915”(physical association)	0.560
AKIP1	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
AKIP1	GSN	psi-mi:“MI:0915”(physical association)	0.560
AKIP1		psi-mi:“MI:0915”(physical association)	0.560
POC1A	TXNDC9	psi-mi:“MI:0914”(association)	0.480
AKIP1	GORASP2	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	ARHGEF11	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	GRIP2	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	RADIL	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	LNX1	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	NOS1	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD4	AKIP1	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	GORASP1	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
AKIP1	GIPC2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (37): AKIP1 (Proximity Label-MS), AKIP1 (Proximity Label-MS), AKIP1 (Affinity Capture-MS), AKIP1 (Affinity Capture-MS), AKIP1 (Two-hybrid), AKIP1 (Two-hybrid), PRKACA (Reconstituted Complex), AKIP1 (Reconstituted Complex), RELA (Affinity Capture-Western), AKIP1 (Affinity Capture-Western), PRKACA (Affinity Capture-Western), AKIP1 (Co-localization), AKIP1 (Affinity Capture-Western), AKIP1 (Two-hybrid), AKIP1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A2R6W1B1, A0FKI7, A2XC52, A2XTW9, A2Y0Q2, B8AMA8, B8B8I3, F4I9G2, O94972, P07106, P20067, P41135, P85828, Q5EAE9, Q5EAH9, Q5R7V3, Q5T8D3, Q5XEM9, Q5XG73, Q5XI67, Q6EPZ2, Q6GPE9, Q6IE24, Q6PCX9, Q70EL1, Q75IR6, Q76N89, Q7XUW3, Q84TV4, Q86UB2, Q8BJL1, Q8BL06, Q8CBX9, Q8H383, Q8H8C6, Q8K3A6, Q8K4P8, Q8LA16, Q8TB52, Q96S38

Diamond homologs: Q9JJR5, Q9NQ31

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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
Ras activation upon Ca2+ influx through NMDA receptor	5	46.8×	5e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	44.6×	5e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	44.6×	5e-06
Assembly and cell surface presentation of NMDA receptors	10	41.6×	5e-12
Dopamine Neurotransmitter Release Cycle	5	40.7×	7e-06
Long-term potentiation	5	39.0×	8e-06
Neurexins and neuroligins	11	35.5×	3e-12
Protein-protein interactions at synapses	7	30.5×	3e-07

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	8	52.8×	1e-09
protein localization to synapse	6	52.2×	3e-07
receptor clustering	7	49.6×	2e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	6	33.8×	4e-06
cell-cell adhesion	9	10.4×	2e-05
protein-containing complex assembly	7	9.1×	7e-04
regulation of small GTPase mediated signal transduction	5	8.2×	1e-02
chemical synaptic transmission	7	6.2×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	Pathogenic
563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	Pathogenic

SpliceAI

1214 predictions. Top by Δscore:

Variant	Effect	Δscore
11:8911215:G:GG	donor_gain	0.9900
11:8917364:GCCT:G	donor_gain	0.9900
11:8919331:TTCTA:T	acceptor_loss	0.9900
11:8919332:TCTA:T	acceptor_loss	0.9900
11:8919333:CTAG:C	acceptor_loss	0.9900
11:8919334:TAG:T	acceptor_loss	0.9900
11:8919335:A:AG	acceptor_gain	0.9900
11:8919335:AGGC:A	acceptor_loss	0.9900
11:8919336:G:GG	acceptor_gain	0.9900
11:8919336:GGCT:G	acceptor_gain	0.9900
11:8917368:G:GG	donor_gain	0.9800
11:8911219:GCCGG:G	donor_gain	0.9700
11:8911528:G:GT	donor_gain	0.9700
11:8911809:A:T	donor_gain	0.9700
11:8919335:AG:A	acceptor_gain	0.9700
11:8919336:GG:G	acceptor_gain	0.9700
11:8921381:C:A	donor_gain	0.9700
11:8911213:GA:G	donor_gain	0.9600
11:8914825:GAA:G	acceptor_gain	0.9600
11:8914825:GAAAT:G	acceptor_gain	0.9600
11:8911808:G:GT	donor_gain	0.9500
11:8914824:A:AG	acceptor_gain	0.9500
11:8914825:G:GG	acceptor_gain	0.9500
11:8919336:GGC:G	acceptor_gain	0.9500
11:8921339:G:T	donor_gain	0.9500
11:8921359:CTCCG:C	donor_gain	0.9500
11:8921380:T:TA	donor_gain	0.9500
11:8921513:TTCCT:T	acceptor_loss	0.9500
11:8921515:CCT:C	acceptor_loss	0.9500
11:8921516:CTA:C	acceptor_loss	0.9500

AlphaMissense

1344 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:8919392:T:A	V182D	0.991
11:8919385:T:G	Y180D	0.989
11:8919469:T:C	F208L	0.987
11:8919471:C:A	F208L	0.987
11:8919471:C:G	F208L	0.987
11:8919440:T:A	V198D	0.985
11:8912486:T:C	F86L	0.984
11:8912488:C:A	F86L	0.984
11:8912488:C:G	F86L	0.984
11:8919470:T:C	F208S	0.981
11:8912487:T:C	F86S	0.980
11:8919379:G:T	G178W	0.979
11:8919385:T:C	Y180H	0.979
11:8919365:T:A	I173K	0.975
11:8912528:T:C	C100R	0.973
11:8919385:T:A	Y180N	0.973
11:8919470:T:G	F208C	0.971
11:8911554:G:C	R35S	0.970
11:8911554:G:T	R35S	0.970
11:8911543:G:C	A32P	0.969
11:8911544:C:A	A32D	0.969
11:8919464:T:C	L206P	0.968
11:8911542:G:C	R31S	0.967
11:8911542:G:T	R31S	0.967
11:8919380:G:A	G178E	0.967
11:8919380:G:T	G178V	0.966
11:8919365:T:G	I173R	0.963
11:8912519:T:C	S97P	0.962
11:8919371:T:A	V175E	0.960
11:8912498:G:C	A90P	0.959

dbSNP variants (sampled 300 via entrez): RS1000079087 (11:8920464 A>G), RS1000255119 (11:8914623 A>T), RS1000345368 (11:8916549 T>C,G), RS1000418936 (11:8916923 G>A), RS1000744967 (11:8918507 C>A,T), RS1000976352 (11:8912128 C>A,G), RS1001324916 (11:8909222 C>T), RS1001621833 (11:8915316 C>G,T), RS1001874920 (11:8919705 C>A,G,T), RS1003361678 (11:8910355 C>A), RS1003412131 (11:8909969 G>A), RS1003669849 (11:8910673 G>A), RS1003707522 (11:8916308 G>A,C), RS1003933611 (11:8919981 G>A), RS1004161766 (11:8916548 G>A)

Disease associations

OMIM: gene MIM:609191 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005950_10	Body mass index x sex x age interaction (4df test)	6.000000e-11
GCST005951_51	Body mass index	8.000000e-11
GCST005953_4	Body mass index (age <50)	4.000000e-11
GCST010083_80	Hemoglobin levels	2.000000e-22
GCST010703_171	Brain morphology (MOSTest)	5.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004509	hemoglobin measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance	2
Cisplatin	increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	decreases expression, increases abundance, affects cotreatment	1
trichostatin A	decreases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Doxorubicin	increases expression	1
Estradiol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases expression	1
Metribolone	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases expression, increases methylation	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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