CNIH4
gene geneOn this page
Also known as HSPC163
Summary
CNIH4 (cornichon family member 4, HGNC:25013) is a protein-coding gene on chromosome 1q42.11, encoding Protein cornichon homolog 4 (Q9P003). Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery. It is a selective cancer dependency (DepMap: 47.6% of cell lines).
Enables CCR5 chemokine receptor binding activity. Involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in endoplasmic reticulum and endoplasmic reticulum-Golgi intermediate compartment.
Source: NCBI Gene 29097 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 31 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 47.6% of screened cell lines
- MANE Select transcript:
NM_014184
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25013 |
| Approved symbol | CNIH4 |
| Name | cornichon family member 4 |
| Location | 1q42.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPC163 |
| Ensembl gene | ENSG00000143771 |
| Ensembl biotype | protein_coding |
| OMIM | 617483 |
| Entrez | 29097 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 10 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000366856, ENST00000366857, ENST00000366858, ENST00000366860, ENST00000465271, ENST00000468318, ENST00000469200, ENST00000477413, ENST00000895496, ENST00000895497, ENST00000933590, ENST00000933591, ENST00000933592, ENST00000933593
RefSeq mRNA: 5 — MANE Select: NM_014184
NM_001277197, NM_001277198, NM_001277199, NM_001277200, NM_014184
CCDS: CCDS1543, CCDS60429, CCDS60430
Canonical transcript exons
ENST00000465271 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000961880 | 224360495 | 224360563 |
| ENSE00001949026 | 224356879 | 224356993 |
| ENSE00001955275 | 224375795 | 224379452 |
| ENSE00003478805 | 224365879 | 224365991 |
| ENSE00003505731 | 224371283 | 224371423 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 97.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.2584 / max 362.7416, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8791 | 34.4167 | 1820 |
| 8790 | 4.8417 | 1651 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 97.55 | gold quality |
| mammalian vulva | UBERON:0000997 | 97.41 | gold quality |
| pericardium | UBERON:0002407 | 97.36 | gold quality |
| heart right ventricle | UBERON:0002080 | 96.95 | gold quality |
| penis | UBERON:0000989 | 96.87 | gold quality |
| oral cavity | UBERON:0000167 | 96.72 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.67 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.55 | gold quality |
| adult organism | UBERON:0007023 | 96.51 | gold quality |
| biceps brachii | UBERON:0001507 | 96.49 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.49 | gold quality |
| gingiva | UBERON:0001828 | 96.48 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 96.41 | gold quality |
| upper leg skin | UBERON:0004262 | 96.33 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.21 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.17 | gold quality |
| jejunum | UBERON:0002115 | 96.17 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.16 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.12 | gold quality |
| body of tongue | UBERON:0011876 | 96.08 | gold quality |
| squamous epithelium | UBERON:0006914 | 95.74 | gold quality |
| lower lobe of lung | UBERON:0008949 | 95.65 | gold quality |
| monocyte | CL:0000576 | 95.61 | gold quality |
| decidua | UBERON:0002450 | 95.61 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 95.47 | gold quality |
| mononuclear cell | CL:0000842 | 95.44 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.43 | gold quality |
| parietal pleura | UBERON:0002400 | 95.38 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.31 | gold quality |
| leukocyte | CL:0000738 | 95.23 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 19.85 |
| E-MTAB-6379 | no | 502.93 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
54 targeting CNIH4, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-5003-5P | 99.61 | 69.13 | 1624 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-6513-3P | 99.59 | 69.77 | 1102 |
| HSA-MIR-182-3P | 99.57 | 67.57 | 825 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 47.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- hsa_circ_0000190 (gene symbol is CNIH4) may be a novel non-invasive biomarker for the diagnosis of gastric cancer (PMID:28130019)
- Screening and identification of CNIH4 gene associated with cell proliferation in gastric cancer based on a large-scale CRISPR-Cas9 screening database DepMap. (PMID:36220450)
- Potential roles of Cornichon Family AMPA Receptor Auxiliary Protein 4 (CNIH4) in head and neck squamous cell carcinoma. (PMID:36404537)
- Comprehensive analysis of clinical prognosis and biological significance of CNIH4 in cervical cancer. (PMID:38087815)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cnih4 | ENSDARG00000087759 |
| mus_musculus | Cnih4 | ENSMUSG00000062169 |
| rattus_norvegicus | Cnih4 | ENSRNOG00000003717 |
| drosophila_melanogaster | cnir | FBGN0243513 |
Paralogs (4): CNIH1 (ENSG00000100528), PPCS (ENSG00000127125), CNIH3 (ENSG00000143786), CNIH2 (ENSG00000174871)
Protein
Protein identifiers
Protein cornichon homolog 4 — Q9P003 (reviewed: Q9P003)
Alternative names: Cornichon family AMPA receptor auxiliary protein 4
All UniProt accessions (3): Q9P003, A6NJ96, A6NLH6
UniProt curated annotations — full annotation on UniProt →
Function. Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery.
Subunit / interactions. Interacts with Sec23/24 complex components SEC24B and SEC24D. Interacts with CCR5. Interacts with ADRB2 in the early secretory pathway.
Subcellular location. Membrane. Endoplasmic reticulum. Endoplasmic reticulum-Golgi intermediate compartment.
Similarity. Belongs to the cornichon family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P003-1 | 1 | yes |
| Q9P003-2 | 2 |
RefSeq proteins (5): NP_001264126, NP_001264127, NP_001264128, NP_001264129, NP_054903* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003377 | Cornichon | Family |
Pfam: PF03311
UniProt features (6 total): transmembrane region 3, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P003-F1 | 93.03 | 0.84 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 169 (showing top):
GOBP_VESICLE_MEDIATED_TRANSPORT, PATIL_LIVER_CANCER, ONKEN_UVEAL_MELANOMA_UP, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOCC_COATED_VESICLE, CASORELLI_APL_SECONDARY_VS_DE_NOVO_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOMF_G_PROTEIN_COUPLED_RECEPTOR_BINDING, DOUGLAS_BMI1_TARGETS_UP, GOMF_SIGNALING_RECEPTOR_BINDING, ACEVEDO_LIVER_CANCER_UP, LAIHO_COLORECTAL_CANCER_SERRATED_UP, TGGAAA_NFAT_Q4_01, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ENDOPLASMIC_RETICULUM_GOLGI_INTERMEDIATE_COMPARTMENT
GO Biological Process (3): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)
GO Molecular Function (3): signaling receptor binding (GO:0005102), CCR5 chemokine receptor binding (GO:0031730), protein binding (GO:0005515)
GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), COPII-coated ER to Golgi transport vesicle (GO:0030134), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| transport | 2 |
| intracellular membrane-bounded organelle | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| Golgi vesicle transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| protein binding | 1 |
| CCR chemokine receptor binding | 1 |
| binding | 1 |
| endomembrane system | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| coated vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
910 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNIH4 | CACNG8 | Q8WXS5 | 908 |
| CNIH4 | GRIA1 | P42261 | 865 |
| CNIH4 | NT5C1A | Q9BXI3 | 832 |
| CNIH4 | GRIA3 | P42263 | 815 |
| CNIH4 | SHISA9 | B4DS77 | 813 |
| CNIH4 | GRIA2 | P42262 | 781 |
| CNIH4 | GSG1L | Q6UXU4 | 723 |
| CNIH4 | CACNG2 | Q9Y698 | 722 |
| CNIH4 | GRIA4 | P48058 | 643 |
| CNIH4 | SYNDIG1 | Q9H7V2 | 624 |
| CNIH4 | DLG4 | P78352 | 616 |
| CNIH4 | SEC24D | O94855 | 589 |
| CNIH4 | TGFA | P01135 | 561 |
| CNIH4 | NETO2 | Q8NC67 | 505 |
| CNIH4 | GSG1L2 | A8MUP6 | 499 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| TSNARE1 | CNIH4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM14B | CNIH4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR25 | CNIH4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| TACR3 | C6orf47 | psi-mi:“MI:0914”(association) | 0.530 |
| WLS | CNIH4 | psi-mi:“MI:0915”(physical association) | 0.490 |
| WLS | CNIH4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KSR1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| DND1 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC47 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LPAR2 | EI24 | psi-mi:“MI:0914”(association) | 0.350 |
| CMKLR1 | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| SERINC2 | PGRMC2 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD10 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD5 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD8 | STXBP3 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD9 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC19A2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC1A4 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35A4 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC37A1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC44A2 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| SLC51A | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC5A3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC5A4 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (79): CNIH4 (Affinity Capture-MS), CNIH4 (Affinity Capture-RNA), CNIH4 (Proximity Label-MS), CNIH4 (Proximity Label-MS), CNIH4 (PCA), CNIH4 (Affinity Capture-MS), CNIH4 (Affinity Capture-MS), CNIH4 (Affinity Capture-MS), CNIH4 (Affinity Capture-MS), CNIH4 (Affinity Capture-MS), CNIH4 (Affinity Capture-MS), CNIH4 (Proximity Label-MS), CNIH4 (Affinity Capture-MS), CNIH4 (Proximity Label-MS), CNIH4 (Two-hybrid)
ESM2 similar proteins: A0A8I3PI99, A0M8U1, A7Y521, B5DEN9, C5HGF3, O88544, O94973, P13666, P17427, P18484, P38024, Q00765, Q0VCK5, Q0X0A5, Q13098, Q1RLU8, Q28635, Q2PG42, Q3KNM2, Q3SZA0, Q3T0N3, Q3T126, Q3T178, Q3ZC24, Q4R5E6, Q5F418, Q5I0H4, Q5M7T4, Q5R648, Q5R9B0, Q5R9M4, Q5RE33, Q5ZJ41, Q5ZJD7, Q6DGW9, Q6GM44, Q6NRT5, Q7TQ48, Q8C407, Q8R1Z9
Diamond homologs: D0Q0Y7, O35089, O35372, O95406, P49858, P52159, Q0VFK3, Q22361, Q3T126, Q401C0, Q5BIN6, Q5BJU5, Q5BL21, Q5R9M4, Q5RDB5, Q68EY2, Q6P3N5, Q6PI25, Q6ZWS4, Q8TBE1, Q9CX13, Q9P003, O14038, P38312, P53173, Q0DET3, Q2QQ55, Q8GWT5, Q9C7D7, Q9P6K6, Q9SZ74, Q3EDD7, Q84W04
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 66 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 |
|---|---|---|---|
| Amino acid transport across the plasma membrane | 6 | 41.9× | 1e-06 |
| R-HSA-425366 | 6 | 25.3× | 9e-06 |
| SLC-mediated transmembrane transport | 9 | 12.4× | 4e-06 |
| Transport of small molecules | 9 | 5.3× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| amino acid transport | 7 | 37.0× | 3e-07 |
| transport across blood-brain barrier | 6 | 18.2× | 2e-04 |
| sodium ion transmembrane transport | 5 | 17.2× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 979935 | GRCh37/hg19 1q42.11-42.12(chr1:224442473-224794913)x1 | Pathogenic |
SpliceAI
959 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:224365877:A:AG | acceptor_gain | 1.0000 |
| 1:224365877:AGT:A | acceptor_gain | 1.0000 |
| 1:224365877:AGTG:A | acceptor_gain | 1.0000 |
| 1:224365877:AGTGG:A | acceptor_gain | 1.0000 |
| 1:224365878:G:GA | acceptor_gain | 1.0000 |
| 1:224365878:GT:G | acceptor_gain | 1.0000 |
| 1:224365878:GTG:G | acceptor_gain | 1.0000 |
| 1:224365878:GTGG:G | acceptor_gain | 1.0000 |
| 1:224365878:GTGGG:G | acceptor_gain | 1.0000 |
| 1:224365989:TCGGT:T | donor_loss | 1.0000 |
| 1:224365990:CGG:C | donor_loss | 1.0000 |
| 1:224365991:GGT:G | donor_loss | 1.0000 |
| 1:224365992:G:A | donor_loss | 1.0000 |
| 1:224365992:G:GG | donor_gain | 1.0000 |
| 1:224365993:TGA:T | donor_loss | 1.0000 |
| 1:224365994:G:GT | donor_loss | 1.0000 |
| 1:224371277:TATCA:T | acceptor_loss | 1.0000 |
| 1:224371278:ATCAG:A | acceptor_loss | 1.0000 |
| 1:224371279:TCA:T | acceptor_loss | 1.0000 |
| 1:224371281:A:AG | acceptor_gain | 1.0000 |
| 1:224371281:AGATA:A | acceptor_loss | 1.0000 |
| 1:224371282:G:GG | acceptor_gain | 1.0000 |
| 1:224371282:GATAC:G | acceptor_gain | 1.0000 |
| 1:224371421:TAG:T | donor_gain | 1.0000 |
| 1:224371424:GT:G | donor_loss | 1.0000 |
| 1:224371425:T:G | donor_loss | 1.0000 |
| 1:224375869:T:G | donor_gain | 1.0000 |
| 1:224357450:GGA:G | donor_gain | 0.9900 |
| 1:224357451:GA:G | donor_gain | 0.9900 |
| 1:224365874:TGCA:T | acceptor_loss | 0.9900 |
AlphaMissense
920 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:224360514:T:C | L30S | 0.999 |
| 1:224371333:T:A | I101K | 0.999 |
| 1:224360523:A:T | D33V | 0.998 |
| 1:224360545:T:G | C40W | 0.998 |
| 1:224360548:C:G | C41W | 0.998 |
| 1:224360556:T:C | L44S | 0.998 |
| 1:224371321:A:G | D97G | 0.998 |
| 1:224371333:T:C | I101T | 0.998 |
| 1:224371333:T:G | I101R | 0.998 |
| 1:224371386:G:C | G119R | 0.998 |
| 1:224371417:T:C | L129P | 0.998 |
| 1:224360507:T:C | S28P | 0.997 |
| 1:224360510:G:C | D29H | 0.997 |
| 1:224360511:A:C | D29A | 0.997 |
| 1:224360511:A:G | D29G | 0.997 |
| 1:224360511:A:T | D29V | 0.997 |
| 1:224360522:G:C | D33H | 0.997 |
| 1:224360523:A:C | D33A | 0.997 |
| 1:224360533:T:A | N36K | 0.997 |
| 1:224360533:T:G | N36K | 0.997 |
| 1:224360543:T:C | C40R | 0.997 |
| 1:224360544:G:A | C40Y | 0.997 |
| 1:224360547:G:A | C41Y | 0.997 |
| 1:224371324:C:A | P98Q | 0.997 |
| 1:224371351:T:C | L107P | 0.997 |
| 1:224371387:G:A | G119D | 0.997 |
| 1:224371404:T:C | F125L | 0.997 |
| 1:224371406:C:A | F125L | 0.997 |
| 1:224371406:C:G | F125L | 0.997 |
| 1:224371407:T:C | F126L | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000050423 (1:224376610 A>G), RS1000061791 (1:224363349 T>C), RS1000092634 (1:224359297 CAAG>C), RS1000425144 (1:224359657 A>G), RS1000453330 (1:224378246 A>C,G), RS1000480488 (1:224367103 T>G), RS1000693742 (1:224373439 G>A), RS1000728900 (1:224373679 T>C), RS1000735489 (1:224360794 G>A), RS1000807880 (1:224378461 G>C,T), RS1000902398 (1:224356151 C>T), RS1001102924 (1:224371825 C>T), RS1001237458 (1:224360128 G>C,T), RS1001239200 (1:224367146 T>A), RS1001322763 (1:224366704 A>G)
Disease associations
OMIM: gene MIM:617483 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000856_1 | Major depressive disorder | 4.000000e-06 |
| GCST010241_437 | Apolipoprotein A1 levels | 1.000000e-11 |
| GCST010242_381 | HDL cholesterol levels | 4.000000e-10 |
| GCST011743_68 | HDL cholesterol levels in HIV infection | 8.000000e-06 |
| GCST90002385_109 | High light scatter reticulocyte count | 2.000000e-09 |
| GCST90002386_229 | High light scatter reticulocyte percentage of red cells | 5.000000e-12 |
| GCST90002405_102 | Reticulocyte count | 1.000000e-10 |
| GCST90002406_123 | Reticulocyte fraction of red cells | 1.000000e-14 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | decreases expression, increases expression | 2 |
| Valproic Acid | increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| salinomycin | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-phenylbutyric acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Selenium | decreases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2UL | Abcam HEK293T CNIH4 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.