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Atlas / Gene / ASIC4

ASIC4

gene
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Also known as BNAC4

Summary

ASIC4 (acid sensing ion channel subunit family member 4, HGNC:21263) is a protein-coding gene on chromosome 2q35, encoding Acid-sensing ion channel 4 (Q96FT7). Does not exhibit measurable stand-alone pH-gated sodium channel activity but may form pH-gated heterotrimeric sodium channels.

This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC.

Source: NCBI Gene 55515 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 14 total
  • GTEx eGene: eQTL in 16 tissues, sQTL in 1 (q < 0.05)
  • Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.69 (unconstrained)
  • MANE Select transcript: NM_018674

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21263
Approved symbolASIC4
Nameacid sensing ion channel subunit family member 4
Location2q35
Locus typegene with protein product
StatusApproved
AliasesBNAC4
Ensembl geneENSG00000072182
Ensembl biotypeprotein_coding
OMIM606715
Entrez55515

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000358078

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 1, TSL 5: 1

ENST00000358078, ENST00000347842, ENST00000461395, ENST00000473709, ENST00000474489, ENST00000693692

RefSeq mRNA: 2 — MANE Select: NM_018674 NM_018674, NM_182847

CCDS: CCDS2442, CCDS33384

Canonical transcript exons

ENST00000358078 — 10 exons

ExonStartEnd
ENSE00000786129219537632219537736
ENSE00001181728219514482219515306
ENSE00001331872219537933219538772
ENSE00002392208219537242219537321
ENSE00003512191219532883219532939
ENSE00003548274219537066219537157
ENSE00003550735219531758219531902
ENSE00003577635219532315219532477
ENSE00003586548219535171219535324
ENSE00003673055219532001219532128

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 88.63.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1418 / max 125.7250, expressed in 232 samples.

Highest expression (Bgee): pituitary gland, adenohypophysis, vena cava, type B pancreatic cell, cerebellar hemisphere.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ASIC4 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 16 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

17 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Testissqtl1.9e-63-1.222:219536406:T:C
Testiseqtl9.1e-52+0.882:219536406:T:C
Muscle Skeletaleqtl6.0e-14+0.902:219498443:A:G
Nerve Tibialeqtl2.7e-12-0.332:219511132:T:C
Artery Tibialeqtl1.3e-08+0.882:219498443:A:G
Heart Atrial Appendageeqtl1.3e-08+0.392:219537902:G:T
Artery Aortaeqtl3.2e-05+0.302:219491798:G:T
Cells Cultured fibroblastseqtl1.5e-04+0.222:219499195:G:A
Brain Cerebellumeqtl6.4e-04-0.542:219507911:T:C
Artery Coronaryeqtl1.2e-03-0.442:219559047:C:G
Adipose Subcutaneouseqtl3.5e-03+0.172:219510228:T:G
Lungeqtl5.2e-03-0.242:219519821:C:T
Colon Sigmoideqtl8.9e-03-0.262:219520728:A:C
Brain Cerebellar Hemisphereeqtl1.8e-02+1.382:219480752:T:A
Breast Mammary Tissueeqtl2.1e-02-0.212:219511132:T:C
Prostateeqtl3.6e-02-0.312:219553834:C:G
Brain Hypothalamuseqtl5.0e-02-0.492:219868409:T:C

FANTOM5 promoters

4 alternative TSS:

Promoter IDTPM avgSamples expressed
255181.2462151
255190.444093
255170.3991170
2025770.052426

Top tissues by expression

showing 100 of 261 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
pituitary glandUBERON:000000788.63gold quality
adenohypophysisUBERON:000219686.75gold quality
vena cavaUBERON:000408782.67gold quality
type B pancreatic cellCL:000016982.00gold quality
cerebellar hemisphereUBERON:000224580.74gold quality
olfactory bulbUBERON:000226480.74gold quality
right hemisphere of cerebellumUBERON:001489080.74gold quality
cerebellar cortexUBERON:000212980.45gold quality
amygdalaUBERON:000187680.35gold quality
cerebellumUBERON:000203779.49gold quality
cingulate cortexUBERON:000302779.05gold quality
anterior cingulate cortexUBERON:000983579.00gold quality
lateral nuclear group of thalamusUBERON:000273678.65silver quality
tongue squamous epitheliumUBERON:000691978.50gold quality
body of tongueUBERON:001187677.45gold quality
ponsUBERON:000098877.00gold quality
right frontal lobeUBERON:000281076.94gold quality
hypothalamusUBERON:000189876.46gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451176.45gold quality
substantia nigraUBERON:000203875.96gold quality
tongueUBERON:000172375.91gold quality
nucleus accumbensUBERON:000188275.86gold quality
midbrainUBERON:000189175.84gold quality
prefrontal cortexUBERON:000045175.68gold quality
gluteal muscleUBERON:000200075.40silver quality
brainUBERON:000095575.07gold quality
temporal lobeUBERON:000187175.04gold quality
triceps brachiiUBERON:000150974.96gold quality
cardia of stomachUBERON:000116274.91gold quality
forebrainUBERON:000189074.79gold quality
pharyngeal mucosaUBERON:000035574.69gold quality
inferior vagus X ganglionUBERON:000536374.69gold quality
diaphragmUBERON:000110374.66gold quality
nasal cavity epitheliumUBERON:000538474.66gold quality
substantia nigra pars compactaUBERON:000196574.52silver quality
substantia nigra pars reticulataUBERON:000196674.45gold quality
parotid glandUBERON:000183174.40gold quality
superior surface of tongueUBERON:000737174.25gold quality
thymusUBERON:000237074.24silver quality
frontal cortexUBERON:000187074.21gold quality
neocortexUBERON:000195074.16gold quality
pericardiumUBERON:000240774.06gold quality
vastus lateralisUBERON:000137974.02gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047373.99silver quality
Ammon’s hornUBERON:000195473.96gold quality
tracheaUBERON:000312673.88gold quality
lateral globus pallidusUBERON:000247673.87gold quality
nippleUBERON:000203073.75gold quality
saphenous veinUBERON:000731873.70gold quality
dorsolateral prefrontal cortexUBERON:000983473.59gold quality
pylorusUBERON:000116673.50gold quality
telencephalonUBERON:000189373.39gold quality
cerebral cortexUBERON:000095673.25gold quality
putamenUBERON:000187473.10gold quality
quadriceps femorisUBERON:000137772.94gold quality
dorsal motor nucleus of vagus nerveUBERON:000287072.80gold quality
synovial jointUBERON:000221772.79gold quality
Brodmann (1909) area 9UBERON:001354072.77gold quality
caudate nucleusUBERON:000187372.47gold quality
inferior olivary complexUBERON:000212772.25gold quality
trigeminal ganglionUBERON:000167572.21gold quality
penisUBERON:000098972.17gold quality
cervix squamous epitheliumUBERON:000692271.97gold quality
heart right ventricleUBERON:000208071.87gold quality
renal medullaUBERON:000036271.66gold quality
myocardiumUBERON:000234971.40gold quality
spinal cordUBERON:000224071.35gold quality
orbitofrontal cortexUBERON:000416771.33gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450271.22gold quality
C1 segment of cervical spinal cordUBERON:000646971.06gold quality
dorsal root ganglionUBERON:000004470.73gold quality
superficial temporal arteryUBERON:000161469.41gold quality
cervix epitheliumUBERON:000480169.14gold quality
occipital lobeUBERON:000202169.11gold quality
layer of synovial tissueUBERON:000761669.10gold quality
upper arm skinUBERON:000426368.59gold quality
urethraUBERON:000005768.58gold quality
left ventricle myocardiumUBERON:000656667.91gold quality
biceps brachiiUBERON:000150767.86gold quality
globus pallidusUBERON:000187567.49gold quality
superior frontal gyrusUBERON:000266167.43gold quality
cardiac muscle of right atriumUBERON:000337967.37gold quality
CA1 field of hippocampusUBERON:000388167.28gold quality
primary visual cortexUBERON:000243667.15gold quality
cerebellar vermisUBERON:000472066.49gold quality
jejunumUBERON:000211566.44gold quality
epithelial cell of pancreasCL:000008366.41gold quality
medial globus pallidusUBERON:000247765.60gold quality
skeletal muscle tissueUBERON:000113465.45gold quality
deltoidUBERON:000147664.48gold quality
mammalian vulvaUBERON:000099764.10gold quality
periodontal ligamentUBERON:000826664.02gold quality
pigmented layer of retinaUBERON:000178263.22gold quality
squamous epitheliumUBERON:000691462.56gold quality
Brodmann (1909) area 23UBERON:001355462.47gold quality
kidney epitheliumUBERON:000481961.72gold quality
bronchusUBERON:000218561.54gold quality
secondary oocyteCL:000065561.40gold quality
epithelium of bronchusUBERON:000203161.15gold quality
mucosa of urinary bladderUBERON:000125961.08gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-MTAB-7316yes31.77
E-GEOD-137537yes17.58
E-ANND-3yes3.11

HPA expression

RNA tissue specificity: Group enriched

44 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPM
Caudate putamentissue73.3
Thalamustissue11.5
Frontal cortextissue8.4
Superior colliculitissue7.9
Pituitary glandtissue7.4
Putamentissue6.4
Retinatissue6.0
Basal gangliatissue5.9
Olfactory bulbtissue5.4
Ventral forebraintissue5.2
Midbraintissue4.3
Periaqueductal graytissue4.0
Hippocampustissue3.7
Nucleus accumbenstissue3.5
Ponstissue3.4
Locus coeruleustissue3.2
Septumtissue3.0
Hypothalamustissue2.9
Prefrontal cortextissue2.7
Cerebral cortextissue2.7
Motor cortextissue2.7
Hippocampal formationtissue2.7
Entorhinal cortextissue2.7
Amygdalatissue2.6
Substantia nigratissue2.6
Insular cortextissue2.6
Retrosplenial and cingulate cortextissue2.5
Temporal cortextissue2.4
Retrosplenial cortextissue2.3
Somatosensory cortextissue2.2
Postcentral gyrustissue2.1
Medulla oblongatatissue2.0
Occipital cortextissue2.0
Spinal cordtissue1.9
Corpus callosumtissue1.4
Adrenal glandtissue1.0
Testistissue0.4
Choroid plexustissue0.4
Cervixtissue0.1
Vaginatissue0.1
Seminal vesicletissue0.1
Adipose tissuetissue0.1
Cerebellumtissue0.1
Lungtissue0.1

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Posterior thalamic nucleus (18.7), Pulvinar (18.2), Piriform cortex (17.4), Inferior colliculus (13.6), Medial geniculate body (13.6).

Regulation

Is transcription factor: no

Functional genomics

gnomAD constraint: pLI 0.000696, LOEUF 0.69, missense Z 1.47 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000358078 — one region, missense o/e 0.89.

Literature-anchored findings (GeneRIF, showing 2)

  • Data show that transfected ASIC4 is targeted to the plasma membrane in CHO-K1 cells, where it associates with ASIC1a and downregulates exogenous ASIC1a expression. (PMID:18662336)
  • Acid-sensing ion channel (ASIC) 4 predominantly localizes to an early endosome-related organelle upon heterologous expression (PMID:26667795)

Cross-species orthologs

28 orthologs

OrganismSymbolGene ID
danio_rerioasic4bENSDARG00000004243
danio_rerioasic4aENSDARG00000025162
mus_musculusAsic4ENSMUSG00000033007
rattus_norvegicusAsic4ENSRNOG00000019985
drosophila_melanogasterNachFBGN0024319
drosophila_melanogasterppk28FBGN0030795
drosophila_melanogasterppk17FBGN0032602
drosophila_melanogasterppk6FBGN0034489
drosophila_melanogasterppk12FBGN0034730
drosophila_melanogasterppk29FBGN0034965
drosophila_melanogasterppk24FBGN0039839
drosophila_melanogasterppk22FBGN0051105
drosophila_melanogasterppk8FBGN0052792
drosophila_melanogasterppk5FBGN0053289
drosophila_melanogasterppk16FBGN0065108
drosophila_melanogasterppk11FBGN0065109
drosophila_melanogasterppk9FBGN0085398
drosophila_melanogasterppk18FBGN0265001
caenorhabditis_elegansWBGENE00003168
caenorhabditis_elegansWBGENE00003174
caenorhabditis_elegansWBGENE00007518
caenorhabditis_elegansWBGENE00009073
caenorhabditis_elegansWBGENE00011891
caenorhabditis_elegansdelm-2WBGENE00016063
caenorhabditis_elegansacd-1WBGENE00016064
caenorhabditis_elegansacd-2WBGENE00016066
caenorhabditis_elegansWBGENE00016699
caenorhabditis_elegansWBGENE00017879

Paralogs (8): ASIC2 (ENSG00000108684), ASIC1 (ENSG00000110881), SCNN1A (ENSG00000111319), SCNN1D (ENSG00000162572), SCNN1G (ENSG00000166828), SCNN1B (ENSG00000168447), ASIC3 (ENSG00000213199), ASIC5 (ENSG00000256394)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2652846) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)Records
decreased body length1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Gallus gallusQ1XA7689.9%Diamond
Opsanus tauQ7T1N476.7%Diamond
Cornu aspersumQ2501145.2%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
ASIC4-AS1ncRNA105373885
TMEM198protein-coding130612
OBSL1protein-coding23363
INHAprotein-coding3623
CHPFprotein-coding79586
SPEGprotein-coding10290
DESprotein-coding1674
GMPPAprotein-coding29926
MIR3132ncRNA100423039
SPEGNBprotein-coding100996693
DNPEP-AS1ncRNA105373884
DNPEPprotein-coding23549

Protein

Protein identifiers

Acid-sensing ion channel 4 — Q96FT7 (reviewed: Q96FT7)

Alternative names: Amiloride-sensitive cation channel 4, Amiloride-sensitive cation channel 4, pituitary

All UniProt accessions (2): A0A8I5KPF5, Q96FT7

UniProt curated annotations — full annotation on UniProt →

Function. Does not exhibit measurable stand-alone pH-gated sodium channel activity but may form pH-gated heterotrimeric sodium channels. Its activity could also depend on alternative gating mechanisms.

Subunit / interactions. Homotrimer. Heterotrimer; with other ASIC proteins producing functional channels.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in pituitary gland. Weakly expressed in brain, vestibular system and organ of Corti.

Similarity. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC4 subfamily.

Isoforms (3)

UniProt IDNamesCanonical?
Q96FT7-43yes
Q96FT7-11
Q96FT7-22

RefSeq proteins (2): NP_061144, NP_878267 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001873ENaCFamily
IPR020903ENaC_CSConserved_site

Pfam: PF00858

UniProt features (24 total): disulfide bond 7, topological domain 3, glycosylation site 3, splice variant 3, sequence variant 3, transmembrane region 2, chain 1, region of interest 1, short sequence motif 1

Structure

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96FT7-F180.370.52

Human Protein Atlas

Protein class: Predicted membrane proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): golgi apparatus

Antibody reliability (HPA): IF approved

Functional residue map

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

Disulfide bonds (7)

TypePositions
Disulfide bond118–202, 180–187, 296–375, 318–371, 322–369, 331–353, 333–345

Glycosylation sites (3)

TypePositions
N-linked (glcnac…) asparagine376, 191, 243

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

IDPathwayEvidence
R-HSA-2672351Stimuli-sensing channelscurated
R-HSA-983712Ion channel transport—
R-HSA-382551Transport of small molecules—

MSigDB gene sets: 87 (showing top): GOBP_BEHAVIOR, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, AREB6_03, GOBP_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_FEAR_RESPONSE, HP1SITEFACTOR_Q6, NKX22_01, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_SODIUM_ION_TRANSPORT, SHEN_SMARCA2_TARGETS_DN, GOMF_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_GATED_CHANNEL_ACTIVITY, GOMF_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_MONOATOMIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY

GO Biological Process (4): sodium ion transmembrane transport (GO:0035725), monoatomic ion transport (GO:0006811), sodium ion transport (GO:0006814), monoatomic ion transmembrane transport (GO:0034220)

GO Molecular Function (3): sodium channel activity (GO:0005272), protein binding (GO:0005515), ligand-gated sodium channel activity (GO:0015280)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

2 top-level categories:

CategoryPathways
Ion channel transport1
Transport of small molecules1

GO top-level categories

14 GO namespaces:

CategoryTerms
sodium ion transport1
monoatomic cation transmembrane transport1
transport1
metal ion transport1
monoatomic ion transport1
transmembrane transport1
monoatomic cation channel activity1
sodium ion transmembrane transporter activity1
binding1
sodium channel activity1
ligand-gated monoatomic cation channel activity1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

showing 15 of 506 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
ASIC4PNKDQ8N490892
ASIC4HAGHQ16775759
ASIC4SLC4A3P48751662
ASIC4TRPV1Q8NER1588
ASIC4ASIC3Q9UHC3566
ASIC4ASIC2Q16515478
ASIC4TAC1P20366473
ASIC4NALCNQ8IZF0442
ASIC4TRPV4Q9HBA0401
ASIC4TRPC1P48995372
ASIC4SCN4BQ8IWT1367
ASIC4GPR65Q8IYL9366
ASIC4FBXO25Q8TCJ0360
ASIC4GPR68Q15743358
ASIC4TRPA1O75762350

IntAct

Human interaction partners of ASIC4 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

5 partners by confidence:

PartnerInteraction typeMIscoreRecords
OTX2physical association0.5603
CFTRphysical association0.3702
CLGNassociation0.3501
TMEM131Lassociation0.3501
UPK3BL1association0.3501

BioGRID (167 interactions; top human partners by supporting records): ABCA3 (Affinity Capture-MS; 2 records), ADCY3 (Affinity Capture-MS; 2 records), ALG12 (Affinity Capture-MS; 2 records), ALG9 (Affinity Capture-MS; 2 records), ATP2A3 (Affinity Capture-MS; 2 records), BSCL2 (Affinity Capture-MS; 2 records), CHST10 (Affinity Capture-MS; 2 records), CISD2 (Affinity Capture-MS; 2 records), CLPTM1 (Affinity Capture-MS; 2 records), CNNM1 (Affinity Capture-MS; 2 records), EIF2AK3 (Affinity Capture-MS; 2 records), FAM69A (Affinity Capture-MS; 2 records), FBXO2 (Affinity Capture-MS; 2 records), GLB1L2 (Affinity Capture-MS; 2 records), GLRB (Affinity Capture-MS; 2 records)

Disease & clinical

Genetic variants

Variant evidence for ASIC4: 14 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance3
Likely benign3
Benign4

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 29 predictions of 1,036):

Position(s)EffectΔscoreSites
2:219531916donor_gain1.0000
2:219531921donor_gain1.0000
2:219532129–219532130donor_loss1.00004
2:219535325–219535326donor_loss1.00005
2:219537158–219537159donor_loss1.00005
2:219537240–219537241acceptor_loss1.00005
2:219537597acceptor_gain1.0000
2:219515307–219515308donor_loss0.99005
2:219531745acceptor_gain0.9900
2:219531750acceptor_gain0.9900

AlphaMissense

1,659 missense substitutions predicted likely pathogenic (of 4,295 scored), across 351 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
M30390.9170.993
M35490.9150.995
M55590.9020.996
M46590.8730.981
D25980.9960.999
H38380.9930.998
F39680.9931.000
N52080.9930.999
H29880.9920.999
F31980.9891.000
N24880.9871.000
D52580.9810.992
F40580.9800.999
F33280.9781.000
F23980.9750.999
N24680.9751.000
D35680.9670.996
F40280.9640.999
D57180.9630.982
F55880.9610.995

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Glioblastoma Multiforme)

Disease associations

OMIM: gene MIM:606715 | disease phenotypes:

GWAS associations

2 associations:

StudyTraitp-value
GCST009246_3Cerebrospinal fluid sTREM-2 levels4e-12
GCST007429_46Lung function (FVC)3e-10

EFO canonical traits (from GWAS)

2 canonical traits:

EFO IDTrait name
EFO:0004312vital capacity
EFO:0010151soluble triggering receptor expressed on myeloid cells 2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, increases methylation2
aristolochic acid Iincreases expression1
pirinixic aciddecreases expression, increases activity, affects binding1
sodium arseniteincreases expression1
licochalcone Bincreases expression1
jinfukangaffects cotreatment, decreases expression1
theaflavin-3,3’-digallateaffects expression1
Atrazineincreases expression1
Benzo(a)pyreneaffects methylation, decreases methylation, increases methylation1
Cisplatindecreases expression, affects cotreatment1
Hydralazineincreases expression, affects cotreatment1
Tobacco Smoke Pollutionincreases expression1
Toluenedecreases expression, increases methylation1
Tretinoinincreases expression1
Triclosandecreases expression1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Built deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source. Provided for research and reference, not medical advice or a diagnosis. Data may be incomplete, especially for rare conditions. Consult a qualified clinician.

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Sources 94

This page pulls from 94 datasets indexed by BioBTree:

alliance_phenotypealphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruscellphonedbchembl_activitychembl_mechanismchembl_moleculechembl_targetciviccivic_assertioncivic_evidencecivic_variantclingen_dosageclingen_gene_validityclingen_variantclinical_trialsclinvarcollectricorumctd_gene_interactiondepmapdepmap_dependencydiamond_similarityefoensemblentrezexonfantom5_genefantom5_promotergenccgenerifgnomad_constraintgnomad_rmcgogoparentgtex_egenegtopdbgwasgwas_studyhgnchpahpa_expressionhpa_pathologyhpointactinterprointogenjasparmeshmgimimmirdbmondomsigdbneighborentrezorphanetorthologorthologentrezpanelapp_geneparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_var_annotationpharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontaxonomytranscriptufeatureuniprot