CALN1
gene geneOn this page
Also known as CABP8
Summary
CALN1 (calneuron 1, HGNC:13248) is a protein-coding gene on chromosome 7q11.22, encoding Calcium-binding protein 8 (Q9BXU9). Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity.
This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 83698 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 63 total — 1 pathogenic
- MANE Select transcript:
NM_031468
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13248 |
| Approved symbol | CALN1 |
| Name | calneuron 1 |
| Location | 7q11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CABP8 |
| Ensembl gene | ENSG00000183166 |
| Ensembl biotype | protein_coding |
| OMIM | 607176 |
| Entrez | 83698 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000329008, ENST00000395275, ENST00000395276, ENST00000431984, ENST00000446128
RefSeq mRNA: 3 — MANE Select: NM_031468
NM_001017440, NM_001363460, NM_031468
CCDS: CCDS47603, CCDS5541
Canonical transcript exons
ENST00000395275 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001290293 | 71810336 | 71810492 |
| ENSE00001521165 | 71779491 | 71787902 |
| ENSE00001521170 | 72412058 | 72412338 |
| ENSE00001559780 | 72403251 | 72403442 |
| ENSE00003441893 | 72106151 | 72106294 |
| ENSE00003615375 | 72278686 | 72278810 |
| ENSE00003785070 | 72023657 | 72023769 |
Expression profiles
Bgee: expression breadth ubiquitous, 140 present calls, max score 97.11.
FANTOM5 (CAGE): breadth broad, TPM avg 2.9647 / max 298.0607, expressed in 301 samples.
FANTOM5 promoters (15 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 84263 | 1.0450 | 143 |
| 84271 | 0.6515 | 83 |
| 84272 | 0.5109 | 80 |
| 84259 | 0.1923 | 83 |
| 84255 | 0.1127 | 59 |
| 84256 | 0.0866 | 41 |
| 84264 | 0.0726 | 33 |
| 84258 | 0.0656 | 36 |
| 84270 | 0.0610 | 18 |
| 84257 | 0.0552 | 25 |
Top tissues by expression
231 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar vermis | UBERON:0004720 | 97.11 | gold quality |
| pons | UBERON:0000988 | 96.07 | gold quality |
| cerebellum | UBERON:0002037 | 94.01 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 93.72 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.72 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.63 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.01 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.48 | gold quality |
| entorhinal cortex | UBERON:0002728 | 92.17 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.60 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 90.70 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.86 | gold quality |
| cortical plate | UBERON:0005343 | 89.18 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 87.79 | gold quality |
| postcentral gyrus | UBERON:0002581 | 87.57 | gold quality |
| parietal lobe | UBERON:0001872 | 86.85 | gold quality |
| primary visual cortex | UBERON:0002436 | 86.63 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 86.52 | gold quality |
| occipital lobe | UBERON:0002021 | 86.19 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.01 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 85.86 | gold quality |
| medulla oblongata | UBERON:0001896 | 85.72 | gold quality |
| nucleus accumbens | UBERON:0001882 | 85.28 | gold quality |
| spinal cord | UBERON:0002240 | 84.96 | gold quality |
| caudate nucleus | UBERON:0001873 | 84.90 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 84.40 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 84.39 | gold quality |
| Ammon’s horn | UBERON:0001954 | 84.38 | gold quality |
| midbrain | UBERON:0001891 | 84.05 | gold quality |
| substantia nigra | UBERON:0002038 | 83.92 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.21 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYCN
miRNA regulators (miRDB)
283 targeting CALN1, 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-7110-3P | 100.00 | 73.18 | 2486 |
| 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
Literature-anchored findings (GeneRIF, showing 7)
- CaBP7 and 8 possess a targeting mechanism that is unique amongst the CaBPs that may contribute to differential functional Ca(2+)-sensing by these family members. (PMID:19338761)
- The protein is most abundant in Purkinje cells of the cerebellum and principal neurons of the cortex and limbic brain whereas no expression in glial cells is apparent. (PMID:26116628)
- provide strong evidence that CALN1 is a target of miR-137. (PMID:26163462)
- detected the first genome-wide significant association of schizophrenia with CALN1, which is a predicted target of MIR137, and thus provide new evidence for the associations between MIR137 targets and schizophrenia (PMID:26206863)
- this report has further supported for associations of genetic variants in the ITIH4 and CALN1 genes with schizophrenia and provided the first evidence that the variants regulate ITIH4 AND CALN1 expression in the dorsolateral prefrontal cortex (PMID:26991396)
- CALN1 gene encoding calneuron 1 had the strongest correlation with CYP11B2 (aldosterone synthase) among genes encoding Ca2+-binding proteins in Aldosterone-producing Adenoma. (PMID:29109191)
- up regulation serum exosomal miR-675 and down regulation of CALN1 in tumor specimen was also found to be associated with the metastatic phenotype in osteosarcoma patients. (PMID:29626470)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | caln2 | ENSDARG00000069766 |
| danio_rerio | caln1 | ENSDARG00000088898 |
| mus_musculus | Caln1 | ENSMUSG00000060371 |
| rattus_norvegicus | ENSRNOG00000080098 | |
| drosophila_melanogaster | TpnC4 | FBGN0033027 |
| drosophila_melanogaster | CG13526 | FBGN0034774 |
| drosophila_melanogaster | CG5024 | FBGN0039373 |
| drosophila_melanogaster | CG17770 | FBGN0039374 |
| drosophila_melanogaster | CG30378 | FBGN0050378 |
| caenorhabditis_elegans | WBGENE00000285 | |
| caenorhabditis_elegans | WBGENE00000287 | |
| caenorhabditis_elegans | pat-10 | WBGENE00003934 |
| caenorhabditis_elegans | WBGENE00006583 | |
| caenorhabditis_elegans | WBGENE00008453 | |
| caenorhabditis_elegans | F35C12.3 | WBGENE00009408 |
| caenorhabditis_elegans | WBGENE00015264 |
Paralogs (20): CABP7 (ENSG00000100314), CABP5 (ENSG00000105507), CALML4 (ENSG00000129007), CALM2 (ENSG00000143933), CETN2 (ENSG00000147400), CETN3 (ENSG00000153140), CABP1 (ENSG00000157782), CALM3 (ENSG00000160014), CABP2 (ENSG00000167791), CALML6 (ENSG00000169885), EFCAB3 (ENSG00000172421), EFCAB12 (ENSG00000172771), CABP4 (ENSG00000175544), CETN1 (ENSG00000177143), CALML3 (ENSG00000178363), CALML5 (ENSG00000178372), CALM1 (ENSG00000198668), EFCAB2 (ENSG00000203666), EFCAB7 (ENSG00000203965), EFCAB9 (ENSG00000214360)
Protein
Protein identifiers
Calcium-binding protein 8 — Q9BXU9 (reviewed: Q9BXU9)
Alternative names: Calneuron I, Calneuron-1
All UniProt accessions (3): A4D1Z1, E9PFU3, Q9BXU9
UniProt curated annotations — full annotation on UniProt →
Function. Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity. May play a role in the physiology of neurons and is potentially important in memory and learning.
Subunit / interactions. Interacts with PI4KB. This binding competes with FREQ/NCS1 binding in a calcium-dependent manner.
Subcellular location. Golgi apparatus. trans-Golgi network membrane. Cytoplasm. Perinuclear region. Cell membrane.
Tissue specificity. Brain specific.
Domain organisation. The C-terminal transmembrane domain (TMD) is necessary and sufficient for membrane targeting.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BXU9-2 | 1 | yes |
| Q9BXU9-1 | 2 |
RefSeq proteins (3): NP_001017440, NP_001350389, NP_113656* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001751 | S100/CaBP7/8-like_CS | Conserved_site |
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR051111 | Ca-binding_regulatory | Family |
Pfam: PF13499
UniProt features (18 total): binding site 9, topological domain 2, domain 2, chain 1, splice variant 1, transmembrane region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXU9-F1 | 53.55 | 0.01 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (9): 95; 102; 127; 129; 131; 133; 138; 91; 93
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 197 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, AAGTCCA_MIR422B_MIR422A, AAGCCAT_MIR135A_MIR135B, LHX3_01, CACCAGC_MIR138, CCATCCA_MIR432, MORF_RAD51L3, GOBP_CELL_CELL_SIGNALING, SRF_Q5_01, GOCC_TRANS_GOLGI_NETWORK, GOBP_REGULATION_OF_SYNAPTIC_PLASTICITY, MYOD_01, MORF_CTSB, MORF_IL4, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN
GO Biological Process (0):
GO Molecular Function (3): calcium ion binding (GO:0005509), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (6): plasma membrane (GO:0005886), trans-Golgi network membrane (GO:0032588), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| trans-Golgi network | 1 |
| organelle membrane | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2244 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CALN1 | AUTS2 | Q8WXX7 | 647 |
| CALN1 | NCS1 | P36610 | 623 |
| CALN1 | ISM1 | B1AKI9 | 612 |
| CALN1 | GALNT17 | Q6IS24 | 516 |
| CALN1 | CNR1 | P21554 | 482 |
| CALN1 | ADORA2A | P29274 | 476 |
| CALN1 | TMEM236 | Q5W0B7 | 471 |
| CALN1 | DRD2 | P14416 | 458 |
| CALN1 | A0A0B4J2G0 | A0A0B4J2G0 | 439 |
| CALN1 | IQSEC3 | Q9UPP2 | 423 |
| CALN1 | NEURL1B | A8MQ27 | 408 |
| CALN1 | PI4KB | P78405 | 395 |
| CALN1 | S100G | P29377 | 363 |
| CALN1 | CALML4 | Q96GE6 | 349 |
| CALN1 | TBC1D22A | Q8WUA7 | 347 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FATE1 | CALN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALN1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SEC22A | CALN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLP1 | CALN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DNAJC30 | CALN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALN1 | USE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAL | CALN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLPI | CALN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALN1 | LIME1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALN1 | DCAF6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CALN1 | CNR1 | psi-mi:“MI:0403”(colocalization) | 0.380 |
| CALN1 | CNR1 | psi-mi:“MI:2364”(proximity) | 0.380 |
| CALN1 | CETN1 | psi-mi:“MI:0914”(association) | 0.350 |
| CALN1 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CALN1 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| DNAJC30 | CALN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| USE1 | CALN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SEC22A | CALN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLP1 | CALN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MAL | CALN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CALN1 | SLPI | psi-mi:“MI:0915”(physical association) | 0.000 |
| CALN1 | LIME1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (15): DCAF6 (Affinity Capture-MS), CALN1 (Two-hybrid), CALN1 (Two-hybrid), CALN1 (Two-hybrid), CALN1 (Two-hybrid), CALN1 (Two-hybrid), CALN1 (Two-hybrid), CALN1 (Two-hybrid), LIME1 (Two-hybrid), SYCE1L (Two-hybrid), CETN1 (Affinity Capture-MS), DCAF6 (Affinity Capture-MS), CALN1 (Affinity Capture-MS), CALN1 (Affinity Capture-MS), CALN1 (Affinity Capture-RNA)
ESM2 similar proteins: A2AHC3, A4FU69, A5WUN7, A7E379, A8MWE9, D3Z6S9, D3Z8E6, D3ZSP7, D4AEC2, O43149, O88196, P53804, Q06190, Q06BI3, Q08AD1, Q12923, Q13009, Q13129, Q3UMB5, Q4R8X0, Q5RBH9, Q5SSH7, Q5SW75, Q5T5Y3, Q60610, Q66HC0, Q6DGK9, Q6IRN6, Q6NZK8, Q76I76, Q80VH0, Q80X60, Q86WZ0, Q8C115, Q8C1B1, Q8C9R9, Q8CDN1, Q8ND61, Q8WWI1, Q99J45
Diamond homologs: A6H742, A7E3Q8, O50064, O59945, O88818, P0CM54, P0CM55, P13796, P13797, P19179, P32599, P46939, P48451, P54680, Q06BI3, Q14651, Q24214, Q25088, Q3V0K9, Q55G87, Q61233, Q63598, Q66H96, Q6DG81, Q6P698, Q7F0J0, Q7G188, Q7XHW4, Q84UL5, Q866X0, Q86V35, Q91ZM8, Q99K51, Q9BXU9, Q9FJ70, Q9FKI0, Q9JJG7, Q9N4M4, Q9SJ84, Q9SVG9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 563416 | GRCh37/hg19 7q11.22(chr7:67638834-71764461)x1 | Pathogenic |
SpliceAI
4314 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:71810331:CCTA:C | donor_loss | 1.0000 |
| 7:71810332:CTA:C | donor_loss | 1.0000 |
| 7:71810333:TACC:T | donor_loss | 1.0000 |
| 7:71810334:A:AC | donor_gain | 1.0000 |
| 7:71810334:A:T | donor_loss | 1.0000 |
| 7:71810334:ACCT:A | donor_gain | 1.0000 |
| 7:71810334:ACCTC:A | donor_gain | 1.0000 |
| 7:71810335:C:CA | donor_loss | 1.0000 |
| 7:71810335:C:CC | donor_gain | 1.0000 |
| 7:71810335:CCT:C | donor_gain | 1.0000 |
| 7:71810335:CCTC:C | donor_gain | 1.0000 |
| 7:71810335:CCTCC:C | donor_gain | 1.0000 |
| 7:71810337:T:TA | donor_gain | 1.0000 |
| 7:71810386:T:TA | donor_gain | 1.0000 |
| 7:71810488:TCAAA:T | acceptor_gain | 1.0000 |
| 7:71810489:CAAA:C | acceptor_gain | 1.0000 |
| 7:71810489:CAAAC:C | acceptor_gain | 1.0000 |
| 7:71810490:AAA:A | acceptor_gain | 1.0000 |
| 7:71810491:AA:A | acceptor_gain | 1.0000 |
| 7:71810492:ACT:A | acceptor_loss | 1.0000 |
| 7:71810493:C:CA | acceptor_loss | 1.0000 |
| 7:71810493:C:CC | acceptor_gain | 1.0000 |
| 7:71810494:T:C | acceptor_loss | 1.0000 |
| 7:71810495:G:C | acceptor_gain | 1.0000 |
| 7:72023652:CTCA:C | donor_gain | 1.0000 |
| 7:72023653:TCA:T | donor_loss | 1.0000 |
| 7:72023654:CA:C | donor_loss | 1.0000 |
| 7:72023655:A:AC | donor_gain | 1.0000 |
| 7:72023655:AC:A | donor_gain | 1.0000 |
| 7:72023655:ACCTG:A | donor_gain | 1.0000 |
AlphaMissense
1754 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:71787815:A:G | L249P | 1.000 |
| 7:71787823:A:C | S246R | 1.000 |
| 7:71787823:A:T | S246R | 1.000 |
| 7:71787825:T:G | S246R | 1.000 |
| 7:71787832:G:C | F243L | 1.000 |
| 7:71787832:G:T | F243L | 1.000 |
| 7:71787834:A:G | F243L | 1.000 |
| 7:71787842:G:T | A240D | 1.000 |
| 7:71787857:A:G | L235P | 1.000 |
| 7:71810449:A:G | L182P | 1.000 |
| 7:72023741:G:C | F139L | 1.000 |
| 7:72023741:G:T | F139L | 1.000 |
| 7:72023742:A:C | F139C | 1.000 |
| 7:72023742:A:G | F139S | 1.000 |
| 7:72023743:A:G | F139L | 1.000 |
| 7:72023745:T:A | E138V | 1.000 |
| 7:72023750:A:C | F136L | 1.000 |
| 7:72023750:A:T | F136L | 1.000 |
| 7:72023751:A:G | F136S | 1.000 |
| 7:72023752:A:G | F136L | 1.000 |
| 7:72106158:G:C | D127E | 1.000 |
| 7:72106158:G:T | D127E | 1.000 |
| 7:72106159:T:A | D127V | 1.000 |
| 7:72106159:T:G | D127A | 1.000 |
| 7:72106160:C:G | D127H | 1.000 |
| 7:72106162:A:G | L126S | 1.000 |
| 7:72106174:A:T | I122N | 1.000 |
| 7:72106183:A:G | L119P | 1.000 |
| 7:72106183:A:T | L119Q | 1.000 |
| 7:72106198:G:C | P114R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000010558 (7:72125098 G>A,C), RS1000011206 (7:72118151 C>T), RS1000014273 (7:72289615 C>T), RS1000015111 (7:72080266 T>C), RS1000015887 (7:72118271 A>G), RS1000016511 (7:72390161 C>T), RS1000019659 (7:71976195 A>G,T), RS1000020291 (7:72492575 G>A), RS1000020423 (7:72267211 C>T), RS1000022560 (7:71821942 ATTT>A,ATT,ATTTT), RS1000025077 (7:71941831 G>A), RS1000026727 (7:71936134 A>G), RS1000027130 (7:72412375 T>G), RS1000028437 (7:72124567 G>C), RS1000038114 (7:71935899 C>A)
Disease associations
OMIM: gene MIM:607176 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001112_6 | Lifetime average cigarettes per day in chronic obstructive pulmonary disease | 3.000000e-06 |
| GCST001621_24 | Airflow obstruction | 2.000000e-06 |
| GCST002337_132 | Amyotrophic lateral sclerosis (sporadic) | 4.000000e-06 |
| GCST004946_32 | Schizophrenia | 3.000000e-08 |
| GCST005316_396 | Intelligence (MTAG) | 3.000000e-08 |
| GCST005316_6 | Intelligence (MTAG) | 1.000000e-13 |
| GCST005316_7 | Intelligence (MTAG) | 3.000000e-12 |
| GCST005803_15 | Corneal astigmatism | 9.000000e-06 |
| GCST006269_747 | General cognitive ability | 1.000000e-08 |
| GCST006913_4 | Sedentary behaviour duration | 4.000000e-09 |
| GCST007006_5 | Logical memory (delayed recall) in normal cognition | 6.000000e-07 |
| GCST007201_71 | Schizophrenia | 4.000000e-08 |
| GCST007576_187 | Chronotype | 9.000000e-11 |
| GCST008595_185 | Cognitive ability, years of educational attainment or schizophrenia (pleiotropy) | 1.000000e-10 |
| GCST009524_115 | Household income (MTAG) | 2.000000e-08 |
| GCST010002_253 | Refractive error | 2.000000e-09 |
| GCST010094_2 | Emotional recognition | 5.000000e-07 |
| GCST010173_11 | Triglyceride levels | 2.000000e-24 |
| GCST010244_242 | Triglyceride levels | 2.000000e-27 |
| GCST012490_303 | Femur bone mineral density x serum urate levels interaction | 9.000000e-10 |
| GCST90000050_45 | Age at first birth | 4.000000e-08 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0004337 | intelligence |
| EFO:1002040 | Corneal astigmatism |
| EFO:0008002 | physical activity measurement |
| EFO:0004874 | memory performance |
| EFO:0008328 | chronotype measurement |
| EFO:0004784 | self reported educational attainment |
| EFO:0009695 | household income |
| EFO:0008329 | facial emotion recognition measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004531 | urate measurement |
| EFO:0009101 | age at first birth measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation, affects methylation, decreases expression | 3 |
| sodium arsenite | affects methylation, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | affects expression, affects methylation | 2 |
| p-Chloromercuribenzoic Acid | decreases expression, affects cotreatment | 2 |
| bisphenol F | increases methylation | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| terbufos | increases methylation | 1 |
| arsenite | increases methylation | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | increases expression | 1 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Fonofos | increases methylation | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Chlordecone | affects response to substance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): sporadic amyotrophic lateral sclerosis