AKAP7

Summary

AKAP7 (A-kinase anchoring protein 7, HGNC:377) is a protein-coding gene on chromosome 6q23.2, encoding A-kinase anchor protein 7 isoforms alpha and beta (O43687). Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel.

This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 9465 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 53 total — 4 likely-pathogenic
• MANE Select transcript: NM_016377

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:377
Approved symbol	AKAP7
Name	A-kinase anchoring protein 7
Location	6q23.2
Locus type	gene with protein product
Status	Approved
Aliases	AKAP18, AKAP15
Ensembl gene	ENSG00000118507
Ensembl biotype	protein_coding
OMIM	604693
Entrez	9465

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000263050, ENST00000342266, ENST00000366358, ENST00000431975, ENST00000474850, ENST00000535150, ENST00000537868, ENST00000541650, ENST00000543815, ENST00000683794, ENST00000706999, ENST00000888712

RefSeq mRNA: 9 — MANE Select: NM_016377 NM_001376570, NM_001387860, NM_001387861, NM_001387862, NM_001387863, NM_001387864, NM_004842, NM_016377, NM_138633

CCDS: CCDS5142, CCDS5143, CCDS5144, CCDS94001

Canonical transcript exons

ENST00000431975 — 8 exons

Exon	Start	End
ENSE00002238814	131135467	131135782
ENSE00002307910	131281530	131283532
ENSE00003526054	131169113	131169273
ENSE00003567883	131145285	131145416
ENSE00003577241	131199461	131199573
ENSE00003603287	131219661	131219808
ENSE00003637531	131165081	131165217
ENSE00003694064	131160059	131160198

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 96.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6603 / max 248.8497, expressed in 1373 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69777	2.6004	1193
69783	2.4607	409
69779	1.1996	118
69776	0.5071	228
69784	0.4580	127
69782	0.2003	101
69778	0.1574	82
69780	0.0767	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	96.26	gold quality
cortical plate	UBERON:0005343	94.18	gold quality
body of pancreas	UBERON:0001150	93.94	gold quality
left adrenal gland	UBERON:0001234	93.92	gold quality
right adrenal gland	UBERON:0001233	93.80	gold quality
left adrenal gland cortex	UBERON:0035825	93.76	gold quality
right adrenal gland cortex	UBERON:0035827	93.66	gold quality
adrenal cortex	UBERON:0001235	93.65	gold quality
adrenal gland	UBERON:0002369	93.55	gold quality
pancreas	UBERON:0001264	92.24	gold quality
duodenum	UBERON:0002114	91.90	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.66	gold quality
epithelial cell of pancreas	CL:0000083	91.50	gold quality
biceps brachii	UBERON:0001507	91.16	gold quality
colonic mucosa	UBERON:0000317	90.69	gold quality
endothelial cell	CL:0000115	90.58	gold quality
germinal epithelium of ovary	UBERON:0001304	90.56	gold quality
calcaneal tendon	UBERON:0003701	90.56	gold quality
islet of Langerhans	UBERON:0000006	90.01	gold quality
pancreatic ductal cell	CL:0002079	89.98	silver quality
jejunal mucosa	UBERON:0000399	89.37	gold quality
primary visual cortex	UBERON:0002436	89.14	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.52	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	88.39	gold quality
rectum	UBERON:0001052	88.30	gold quality
vastus lateralis	UBERON:0001379	88.25	gold quality
diaphragm	UBERON:0001103	88.23	gold quality
corpus callosum	UBERON:0002336	87.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.48
E-HCAD-9	yes	8.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

113 targeting AKAP7, 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-4668-3P	100.00	68.74	2635
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
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-570-3P	99.96	72.41	4910
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 7)

• AKAP7gamma is the first nuclear AKAP to bind RI and may be responsible for positioning PKA via RI and/or RII to regulate PKA-mediated gene transcription in both somatic cells and oocytes (PMID:12804576)
• AKAP15 regulates ENaC via a novel PKA-independent pathway (PMID:17244820)
• AKAP18 contains a phosphodiesterase domain that binds AMP. (PMID:18082768)
• Data from studies using recombinant proteins suggest that both AKAP7-gamma and AKAP7-alpha exhibit high-affinity interactions with isoenzymes of PKC (protein kinase C); AKAP7 could dictate PKC localization/function. (PMID:22670899)
• PKC tethered to AKAP7alpha was less susceptible to inhibition from the ATP-competitive inhibitor Go6976 and the substrate-competitive inhibitor PKC 20-28, but not the activation-competitive inhibitor calphostin C. (PMID:24302730)
• Malonate in the nucleotide-binding site traps human AKAP18-gamma in a novel conformational state. (PMID:27487922)
• AKAP7 expression levels may have clinical utility as a prognostic biomarker for post-stroke blood brain complications (PMID:28446746)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Akap7	ENSMUSG00000039166
rattus_norvegicus	Akap7	ENSRNOG00000013202

Paralogs (1): AKAIN1 (ENSG00000231824)

Protein

Protein identifiers

A-kinase anchor protein 7 isoforms alpha and beta — O43687 (reviewed: O43687, Q9P0M2)

Alternative names: A-kinase anchor protein 18 kDa, Protein kinase A-anchoring protein 7 isoforms alpha/beta

All UniProt accessions (8): A0A804HI88, A0A9L9PYJ6, O43687, Q9P0M2, F5GXD1, F5H4P9, J3KN37, Q2TAJ5

UniProt curated annotations — full annotation on UniProt →

Function. Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium.

Subunit / interactions. Binds cAMP-dependent protein kinase (PKA). Interacts with PRKCA; only the cytoplasmic form is capable of interacting with PRKCA.

Subcellular location. Lateral cell membrane Apical cell membrane.

Tissue specificity. Expressed in brain, heart, lung, pancreas and skeletal muscle.

Isoforms (3)

UniProt ID	Names	Canonical?
O43687-1	Beta	yes
O43687-2	Alpha
Q9P0M2-1	Gamma

RefSeq proteins (9): NP_001363499, NP_001374789, NP_001374790, NP_001374791, NP_001374792, NP_001374793, NP_004833, NP_057461, NP_619539 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019511	AKAP7_RI-RII-bd_dom	Domain
IPR052641	AKAP7_isoform_gamma	Family
IPR009097	Cyclic_Pdiesterase	Homologous_superfamily
IPR019510	AKAP7-like_phosphoesterase	Domain

Pfam: PF10469, PF10470

UniProt features (44 total): region of interest 9, helix 9, strand 8, binding site 4, lipid moiety-binding region 3, chain 2, compositionally biased region 2, sequence variant 2, turn 2, initiator methionine 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5JJ2	X-RAY DIFFRACTION	1.25
4ZP3	X-RAY DIFFRACTION	2.63

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43687-F1	69.02	0.24
AF-Q9P0M2-F1	77.08	0.54

Functional residue map

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

O43687 (canonical)

Post-translational modifications (3): 2, 5, 6

Mutagenesis-validated functional residues (1):

Position	Phenotype
2–6	abolishes membrane localization and affects its ability to inhibit enac activity in a sodium-dependent manner.

Q9P0M2

Ligand- & substrate-binding residues (4): 219–221; 129; 129; 219–221

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 196 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_POSITIVE_REGULATION_OF_POTASSIUM_ION_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, WEI_MYCN_TARGETS_WITH_E_BOX, MODULE_379, GOBP_POSITIVE_REGULATION_OF_MONOATOMIC_ION_TRANSPORT, GOBP_RESPONSE_TO_CAMP, GOBP_CELLULAR_RESPONSE_TO_CAMP, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_SYNAPTIC_SIGNALING

GO Biological Process (8): action potential (GO:0001508), monoatomic ion transport (GO:0006811), intracellular protein localization (GO:0008104), intracellular signal transduction (GO:0035556), regulation of membrane repolarization (GO:0060306), cellular response to cAMP (GO:0071320), positive regulation of potassium ion transmembrane transport (GO:1901381), modulation of chemical synaptic transmission (GO:0050804)

GO Molecular Function (6): protein kinase A binding (GO:0051018), nucleotide binding (GO:0000166), protein kinase binding (GO:0019901), protein kinase A regulatory subunit binding (GO:0034237), protein binding (GO:0005515), kinase activity (GO:0016301)

GO Cellular Component (9): plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), lateral plasma membrane (GO:0016328), nucleus (GO:0005634), cytosol (GO:0005829), protein-containing complex (GO:0032991), hippocampal mossy fiber to CA3 synapse (GO:0098686), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
regulation of membrane potential	2
intracellular anatomical structure	2
transport	1
macromolecule localization	1
signal transduction	1
regulation of biological process	1
membrane repolarization	1
response to cAMP	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1
positive regulation of potassium ion transport	1
potassium ion transmembrane transport	1
regulation of potassium ion transmembrane transport	1
positive regulation of cation transmembrane transport	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase binding	1
protein kinase A binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
plasma membrane	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cellular_component	1
thorny excrescence	1
neuron to neuron synapse	1
hippocampal mossy fiber expansion	1

Protein interactions and networks

STRING

1029 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AKAP7	AKAP1	Q92667	924
AKAP7	CACNA1C	Q13936	875
AKAP7	PDE4D	Q08499	872
AKAP7	AKAP5	P24588	848
AKAP7	PRKACA	P17612	828
AKAP7	PRKACB	P22694	827
AKAP7	PRKACG	P22612	827
AKAP7	AKAP6	Q13023	810
AKAP7	ATP2A2	P16614	775
AKAP7	AKAP9	Q99996	737
AKAP7	PDE3A	Q14432	726
AKAP7	AKAP13	Q12802	699
AKAP7	PDE4B	Q07343	638
AKAP7	AKAP10	O43572	636
AKAP7	AKAP11	Q9UKA4	633

IntAct

24 interactions, top by confidence:

A	B	Type	Score
LSM3	LSM1	psi-mi:“MI:0914”(association)	0.950
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
PRPF3	PRPF4	psi-mi:“MI:0914”(association)	0.730
SNRPG	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SNRPB	PRMT5	psi-mi:“MI:0914”(association)	0.670
LSM5	LSM1	psi-mi:“MI:0914”(association)	0.640
SNRPE	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
SNRPF	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
LSM6	PRMT5	psi-mi:“MI:0914”(association)	0.530
SNRPN	PRMT5	psi-mi:“MI:0914”(association)	0.530
USP4	PRPF4	psi-mi:“MI:0914”(association)	0.530
SNRPE	PRMT5	psi-mi:“MI:0914”(association)	0.530
USP15	PRPF3	psi-mi:“MI:0914”(association)	0.530
LSM4	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
LSM7	GEMIN2	psi-mi:“MI:0914”(association)	0.350
USP15	AKAP7	psi-mi:“MI:0914”(association)	0.350
AKAP7	PRKACG	psi-mi:“MI:0914”(association)	0.350
LSM7	SART1	psi-mi:“MI:0914”(association)	0.350
PRKAR2B	AKAP7	psi-mi:“MI:0914”(association)	0.350
PRPF4	AKAP7	psi-mi:“MI:0914”(association)	0.350
FECH	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (79): AKAP7 (Two-hybrid), SPA17 (Two-hybrid), ROPN1 (Two-hybrid), CEP76 (Two-hybrid), AKAP7 (Affinity Capture-MS), AKAP7 (Two-hybrid), AKAP7 (Affinity Capture-MS), AKAP7 (Affinity Capture-MS), AKAP7 (Affinity Capture-MS), AKAP7 (Affinity Capture-MS), AKAP7 (Affinity Capture-MS), AKAP7 (Affinity Capture-MS), AKAP7 (Affinity Capture-MS), AKAP7 (Affinity Capture-MS), AKAP7 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GUA9, A0A1B0GV96, A4IFJ0, B3DGJ2, O43687, O55074, O70139, O75167, P04370, P0C8S0, P0C913, P0C914, P0CD96, P19103, P27775, P49342, P61925, P61926, P62025, P63248, P63249, Q04758, Q13522, Q29026, Q3SX13, Q3T0A6, Q3ZB98, Q4VC05, Q5FVI4, Q5R6X9, Q64256, Q6P3A1, Q71U53, Q7M2N1, Q7YQJ3, Q7YQJ4, Q8N111, Q8R409, Q8TAD7, Q8WMS3

Diamond homologs: O43687, O55074, P0CW23, Q6JP77, Q7TN79, Q9P0M2, G3UWD5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 24 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
mRNA decay by 5’ to 3’ exoribonuclease	6	217.5×	2e-12
Metabolism of non-coding RNA	5	151.1×	2e-09
snRNP Assembly	6	60.4×	7e-09
mRNA Splicing	11	57.5×	5e-16
SARS-CoV-2 modulates host translation machinery	5	53.3×	3e-07
Processing of Capped Intron-Containing Pre-mRNA	11	43.0×	6e-15
mRNA Splicing - Major Pathway	13	33.8×	4e-16
CHD1 and CHD2 subfamily	5	25.9×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal snRNP assembly	8	202.1×	6e-16
mRNA splicing, via spliceosome	13	51.8×	2e-18
RNA splicing	10	38.4×	9e-13
mRNA processing	5	17.1×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	4
Uncertain significance	38
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	Likely pathogenic
154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	Likely pathogenic
3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	Likely pathogenic
625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	Likely pathogenic

SpliceAI

3090 predictions. Top by Δscore:

Variant	Effect	Δscore
6:131135779:GCGG:G	donor_gain	1.0000
6:131135780:CGGG:C	donor_loss	1.0000
6:131135783:GTGA:G	donor_loss	1.0000
6:131142041:G:GT	donor_gain	1.0000
6:131142042:A:T	donor_gain	1.0000
6:131145266:T:TA	acceptor_gain	1.0000
6:131145270:T:TA	acceptor_gain	1.0000
6:131145272:T:TA	acceptor_gain	1.0000
6:131145276:A:AG	acceptor_gain	1.0000
6:131145276:AT:A	acceptor_gain	1.0000
6:131145277:T:G	acceptor_gain	1.0000
6:131145277:T:TA	acceptor_gain	1.0000
6:131145281:A:AG	acceptor_gain	1.0000
6:131145282:A:G	acceptor_gain	1.0000
6:131145283:A:C	acceptor_loss	1.0000
6:131145284:G:T	acceptor_loss	1.0000
6:131145284:GGA:G	acceptor_gain	1.0000
6:131145412:TGGAA:T	donor_gain	1.0000
6:131145413:GGAA:G	donor_gain	1.0000
6:131145413:GGAAG:G	donor_gain	1.0000
6:131145414:GAA:G	donor_gain	1.0000
6:131145414:GAAG:G	donor_gain	1.0000
6:131145415:AA:A	donor_gain	1.0000
6:131145415:AAGT:A	donor_loss	1.0000
6:131145416:AGT:A	donor_loss	1.0000
6:131145417:G:GG	donor_gain	1.0000
6:131145418:T:TC	donor_loss	1.0000
6:131145419:AA:A	donor_loss	1.0000
6:131160057:A:AG	acceptor_gain	1.0000
6:131160058:G:GT	acceptor_gain	1.0000

AlphaMissense

2334 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:131281610:G:C	A311P	0.993
6:131281598:G:C	A307P	0.992
6:131160169:T:C	F88L	0.989
6:131160171:C:A	F88L	0.989
6:131160171:C:G	F88L	0.989
6:131219743:T:C	L262P	0.988
6:131169222:T:C	F180L	0.985
6:131169224:T:A	F180L	0.985
6:131169224:T:G	F180L	0.985
6:131281611:C:A	A311D	0.985
6:131281614:T:A	V312D	0.984
6:131281577:A:C	S300R	0.983
6:131281578:G:T	S300I	0.983
6:131281579:T:A	S300R	0.983
6:131281579:T:G	S300R	0.983
6:131169204:T:C	F174L	0.981
6:131169206:T:A	F174L	0.981
6:131169206:T:G	F174L	0.981
6:131165168:C:G	H127D	0.980
6:131169127:T:C	L148P	0.978
6:131219747:C:G	C263W	0.977
6:131281587:T:C	L303P	0.976
6:131281602:T:A	V308E	0.976
6:131199526:C:G	H219D	0.974
6:131219745:T:C	C263R	0.974
6:131160173:T:C	L89P	0.969
6:131160170:T:C	F88S	0.968
6:131281626:T:C	L316P	0.966
6:131160175:T:C	S90P	0.962
6:131165170:T:A	H127Q	0.962

dbSNP variants (sampled 300 via entrez): RS1000010555 (6:131161310 G>C), RS1000059574 (6:131185593 T>C), RS1000061705 (6:131183784 G>A,T), RS1000078614 (6:131185920 G>T), RS1000110374 (6:131254019 A>G), RS1000119362 (6:131187065 T>C), RS1000129051 (6:131193968 A>G), RS1000147843 (6:131278880 G>A), RS1000177467 (6:131247884 C>A,T), RS1000197783 (6:131143084 A>G), RS1000221978 (6:131154545 C>G), RS1000270194 (6:131147788 T>C), RS1000276977 (6:131186692 G>A), RS1000315281 (6:131132739 T>C), RS1000323424 (6:131143824 G>A,C)

Disease associations

OMIM: gene MIM:604693 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST005984_48	Glomerular filtration rate	3.000000e-12
GCST005985_26	Creatinine levels	3.000000e-11
GCST006923_13	Loneliness	1.000000e-08
GCST006924_4	Loneliness (MTAG)	1.000000e-09
GCST007267_315	Systolic blood pressure	7.000000e-11
GCST007269_317	Pulse pressure	3.000000e-11
GCST007344_79	Estimated glomerular filtration rate	4.000000e-10
GCST012227_156	Hip circumference adjusted for BMI	1.000000e-08
GCST012227_157	Hip circumference adjusted for BMI	8.000000e-10
GCST012227_158	Hip circumference adjusted for BMI	4.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007865	loneliness measurement
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0008039	BMI-adjusted hip circumference

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
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	decreases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
sodium arsenite	decreases expression	1
manganese chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
abrine	decreases expression	1
MRK 003	decreases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Decitabine	affects expression	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	affects expression	1
Dexamethasone	affects cotreatment, increases expression	1
Hydrogen Peroxide	affects expression	1
Lovastatin	decreases response to substance	1
Manganese	decreases expression	1
Methotrexate	increases expression	1
Phthalic Acids	increases methylation	1
Rotenone	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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