CREB3L4
gene geneOn this page
Also known as AIbZIPCREB4CREB3hJALATCE1
Summary
CREB3L4 (cAMP responsive element binding protein 3 like 4, HGNC:18854) is a protein-coding gene on chromosome 1q21.3, encoding Cyclic AMP-responsive element-binding protein 3-like protein 4 (Q8TEY5). Transcriptional activator that may play a role in the unfolded protein response.
This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 148327 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 74 total — 2 pathogenic
- MANE Select transcript:
NM_001255978
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18854 |
| Approved symbol | CREB3L4 |
| Name | cAMP responsive element binding protein 3 like 4 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AIbZIP, CREB4, CREB3, hJAL, ATCE1 |
| Ensembl gene | ENSG00000143578 |
| Ensembl biotype | protein_coding |
| OMIM | 607138 |
| Entrez | 148327 |
Gene structure
Transcript identifiers
Ensembl transcripts: 46 — 40 protein_coding, 6 protein_coding_CDS_not_defined
ENST00000271889, ENST00000368600, ENST00000368601, ENST00000368603, ENST00000368607, ENST00000431292, ENST00000449724, ENST00000461688, ENST00000468845, ENST00000473340, ENST00000477617, ENST00000479010, ENST00000492729, ENST00000885128, ENST00000885129, ENST00000885130, ENST00000885131, ENST00000885132, ENST00000885133, ENST00000885134, ENST00000885135, ENST00000885136, ENST00000885137, ENST00000885138, ENST00000885139, ENST00000885140, ENST00000885141, ENST00000885142, ENST00000930318, ENST00000930319, ENST00000930320, ENST00000930321, ENST00000930322, ENST00000930323, ENST00000930324, ENST00000930325, ENST00000930326, ENST00000930327, ENST00000946154, ENST00000946155, ENST00000946156, ENST00000946157, ENST00000946158, ENST00000946159, ENST00000946160, ENST00000946161
RefSeq mRNA: 5 — MANE Select: NM_001255978
NM_001255978, NM_001255979, NM_001255980, NM_001255981, NM_130898
CCDS: CCDS1056, CCDS58029
Canonical transcript exons
ENST00000368607 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000960970 | 153972972 | 153973078 |
| ENSE00001421042 | 153967902 | 153968164 |
| ENSE00001865408 | 153973872 | 153974359 |
| ENSE00003465238 | 153972744 | 153972836 |
| ENSE00003503193 | 153968930 | 153969176 |
| ENSE00003510416 | 153973195 | 153973263 |
| ENSE00003525228 | 153969334 | 153969455 |
| ENSE00003542152 | 153968522 | 153968699 |
| ENSE00003617392 | 153973620 | 153973716 |
| ENSE00003623170 | 153973380 | 153973464 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 95.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.5866 / max 121.2029, expressed in 1670 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5457 | 5.8602 | 1534 |
| 5456 | 2.2952 | 1054 |
| 5458 | 0.3595 | 156 |
| 5459 | 0.0718 | 39 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 95.81 | gold quality |
| right uterine tube | UBERON:0001302 | 95.00 | gold quality |
| prostate gland | UBERON:0002367 | 94.41 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 92.40 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.76 | gold quality |
| body of stomach | UBERON:0001161 | 89.35 | gold quality |
| left ovary | UBERON:0002119 | 89.12 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.73 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.63 | gold quality |
| mouth mucosa | UBERON:0003729 | 88.51 | gold quality |
| pancreatic ductal cell | CL:0002079 | 88.23 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.22 | gold quality |
| right ovary | UBERON:0002118 | 88.05 | gold quality |
| stomach | UBERON:0000945 | 87.98 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.57 | gold quality |
| body of pancreas | UBERON:0001150 | 87.45 | gold quality |
| rectum | UBERON:0001052 | 87.35 | gold quality |
| oviduct epithelium | UBERON:0004804 | 87.02 | gold quality |
| endocervix | UBERON:0000458 | 86.90 | gold quality |
| ovary | UBERON:0000992 | 86.65 | gold quality |
| fallopian tube | UBERON:0003889 | 86.34 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.10 | gold quality |
| ileal mucosa | UBERON:0000331 | 86.01 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.60 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 85.51 | gold quality |
| mammary duct | UBERON:0001765 | 85.42 | gold quality |
| fundus of stomach | UBERON:0001160 | 85.30 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.14 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 84.99 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 84.96 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75688 | yes | 424.90 |
| E-ANND-3 | yes | 3.72 |
| E-CURD-10 | no | 109.16 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| CREB3L4 | |
| DNAJC12 | Unknown |
| HSPA5 | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1474.1 | CREB3L4 | CREB-related factors |
| MA1474.2 | CREB3L4 | CREB-related factors |
| MA1475.1 | CREB3L4 | CREB-related factors |
| MA1475.2 | CREB3L4 | CREB-related factors |
JASPAR matrix evidence (PMIDs): PMID:21711675
Upstream regulators (CollecTRI, top): CREB3L4, CREM
miRNA regulators (miRDB)
11 targeting CREB3L4, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-4640-5P | 97.42 | 66.33 | 1543 |
| HSA-MIR-4726-5P | 97.24 | 65.67 | 1299 |
| HSA-MIR-424-3P | 97.20 | 65.86 | 385 |
| HSA-MIR-6747-5P | 96.17 | 64.99 | 743 |
| HSA-MIR-4772-5P | 95.60 | 68.04 | 617 |
Literature-anchored findings (GeneRIF, showing 10)
- AIbZIP, a novel bZIP gene located on chromosome 1q21.3 that is highly expressed in prostate tumors and of which the expression is up-regulated by androgens in LNCaP human prostate cancer cells. (PMID:11830526)
- identified a novel human CREB gene (CREB4) that was 1592 bp long and encoded a protein of 395 amino acid residues (PMID:12111373)
- S1P cleavage of CREB4 may be suppressed by a determinant in the C-terminal region (PMID:16236796)
- In LNCaP cell lines that conditionally express the processed form of AIbZIP, downstream targets of AIbZIP include genes for protein processing, transcriptional regulation, small molecule transport, signal transduction, metabolism & cell homeostasis. (PMID:17712038)
- AIbZIP induced by the androgen receptor axis plays a crucial role in the p21 dependent proliferation of androgen-sensitive prostate cancer cells. (PMID:27853318)
- CREB3L4 expression is mediated by an androgen-receptor -IRE1alpha axis, but is also directly regulated by androgen-receptor-to-androgen response elements binding. (PMID:28338058)
- Study demonstrated that MCU1 is frequently overexpressed in breast cancer and abnormally high expression of MUC1 indicates poor prognosis. Subsequent data mining across multiple large databases demonstrated a positive association between MUC1 mRNA expression CREB3L4 in breast cancer tissues. Results indicated that MUC1 transcript expression may regulate tumor invasion and metastasis associated with CREB3L4 transcription. (PMID:30483806)
- The Novel Transcription Factor CREB3L4 Contributes to the Progression of Human Breast Carcinoma. (PMID:32026099)
- MSC-AS1 knockdown inhibits cell growth and temozolomide resistance by regulating miR-373-3p/CPEB4 axis in glioma through PI3K/Akt pathway. (PMID:33106913)
- AIbZIP/CREB3L4 Promotes Cell Proliferation via the SKP2-p27 Axis in Luminal Androgen Receptor Subtype Triple-Negative Breast Cancer. (PMID:38236913)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Creb3l4 | ENSMUSG00000027938 |
| rattus_norvegicus | Creb3l4 | ENSRNOG00000023493 |
| drosophila_melanogaster | CrebA | FBGN0004396 |
| drosophila_melanogaster | Atf6 | FBGN0033010 |
| drosophila_melanogaster | CrebB | FBGN0265784 |
| caenorhabditis_elegans | WBGENE00000222 | |
| caenorhabditis_elegans | WBGENE00000793 | |
| caenorhabditis_elegans | WBGENE00016162 |
Paralogs (9): CREB3L3 (ENSG00000060566), CREM (ENSG00000095794), CREB3 (ENSG00000107175), ATF6 (ENSG00000118217), CREB1 (ENSG00000118260), ATF1 (ENSG00000123268), CREB3L1 (ENSG00000157613), CREB3L2 (ENSG00000182158), ATF6B (ENSG00000213676)
Protein
Protein identifiers
Cyclic AMP-responsive element-binding protein 3-like protein 4 — Q8TEY5 (reviewed: Q8TEY5)
Alternative names: Androgen-induced basic leucine zipper protein, Attaching to CRE-like 1, Cyclic AMP-responsive element-binding protein 4, Transcript induced in spermiogenesis protein 40, hJAL
All UniProt accessions (4): Q8TEY5, Q5T4K9, Q5T4L1, Q5T4L2
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional activator that may play a role in the unfolded protein response. Binds to the UPR element (UPRE) but not to CRE element. Preferentially binds DNA with to the consensus sequence 5’-T[GT]ACGT[GA][GT]-3’ and has transcriptional activation activity from UPRE. Binds to NF-kappa-B site and has transcriptional activation activity from NF-kappa-B-containing regulatory elements.
Subunit / interactions. Binds DNA as a dimer.
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane Nucleus.
Tissue specificity. According to PubMed:11830526, exclusively expressed in the prostate. Expressed in breast and prostate cancer cell lines. Expressed in prostatic luminal epithelial cells (at protein level). Expression is significantly more abundant in prostate cancer than in benign prostatic tissue (prostatic hyperplasia). According to PubMed:12111373, also expressed in brain, pancreas and skeletal muscle, and at lower levels in small intestine, testis, leukocyte and thymus.
Post-translational modifications. N-glycosylated in the C-terminal region. Controlled by regulated intramembrane proteolysis (RIP). Following ER stress a fragment containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases (PS1 and PS2). PS1 cleavage may be suppressed by a determinant in the C-terminal region.
Induction. By androgens.
Similarity. Belongs to the bZIP family. ATF subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TEY5-1 | 1 | yes |
| Q8TEY5-2 | 2 |
RefSeq proteins (5): NP_001242907, NP_001242908, NP_001242909, NP_001242910, NP_570968 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004827 | bZIP | Domain |
| IPR046347 | bZIP_sf | Homologous_superfamily |
| IPR051381 | CREB_ATF_subfamily | Family |
Pfam: PF00170
UniProt features (16 total): region of interest 4, chain 2, topological domain 2, site 1, glycosylation site 1, splice variant 1, sequence variant 1, mutagenesis site 1, sequence conflict 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TEY5-F1 | 61.56 | 0.22 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 338–339 (cleavage; by ps1)
Glycosylation sites (1): 366
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 335 | abolishes cleavage by sp1. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8874211 | CREB3 factors activate genes |
MSigDB gene sets: 353 (showing top):
GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_GROWTH, GOBP_INDUCTION_OF_POSITIVE_CHEMOTAXIS, TGACCTY_ERR1_Q2, AP2_Q3, GOBP_MALE_GAMETE_GENERATION, GGGTGGRR_PAX4_03, GOBP_REGULATION_OF_POSITIVE_CHEMOTAXIS, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION
GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), response to unfolded protein (GO:0006986), spermatogenesis (GO:0007283), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (10): Golgi membrane (GO:0000139), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), nuclear membrane (GO:0031965), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Unfolded Protein Response (UPR) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 4 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| cellular anatomical structure | 3 |
| cytoplasm | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription cis-regulatory region binding | 2 |
| endomembrane system | 2 |
| organelle membrane | 2 |
| response to topologically incorrect protein | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| positive regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
Protein interactions and networks
STRING
806 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CREB3L4 | HCFC1 | P51610 | 882 |
| CREB3L4 | HCFC2 | Q9Y5Z7 | 832 |
| CREB3L4 | CREBZF | Q9NS37 | 790 |
| CREB3L4 | HDAC3 | O15379 | 788 |
| CREB3L4 | CREBRF | Q8IUR6 | 752 |
| CREB3L4 | MBTPS1 | Q14703 | 571 |
| CREB3L4 | MBTPS2 | O43462 | 566 |
| CREB3L4 | CREB1 | P16220 | 548 |
| CREB3L4 | FBXL20 | Q96IG2 | 543 |
| CREB3L4 | FBXL2 | Q9UKC9 | 541 |
| CREB3L4 | PAQR4 | Q8N4S7 | 530 |
| CREB3L4 | ARF4 | P18085 | 510 |
| CREB3L4 | EIF2AK2 | P19525 | 496 |
| CREB3L4 | EIF2S3 | P41091 | 494 |
| CREB3L4 | XBP1 | P17861 | 478 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GET3 | CREB3L4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| CREB3L4 | CREB3 | psi-mi:“MI:2364”(proximity) | 0.480 |
| GANAB | CREB3L4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CREB3L4 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC19A3 | CREB3L4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB3L3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| GET3 | CREB3L4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): CREB3L4 (Affinity Capture-RNA), CREB3L4 (Affinity Capture-RNA), CREB3L4 (Co-localization), CREB3L4 (Affinity Capture-MS), ASNA1 (Two-hybrid), CREB3L4 (Affinity Capture-MS), CREB3L4 (Affinity Capture-MS), CREB3L4 (Affinity Capture-MS), CREB3L4 (Affinity Capture-MS), CREM (Affinity Capture-Western), CREB3L4 (Reconstituted Complex), LRRC4C (Two-hybrid), GANAB (Two-hybrid), SLC19A3 (Two-hybrid)
ESM2 similar proteins: A1L224, A2VD01, D3ZLB7, F6VAN0, G3V909, O02761, O35451, O43889, O77628, O88479, O94983, O97930, P01100, P01101, P01102, P0C0N8, P0C0N9, P11939, P12841, P18850, P20389, P38532, Q00613, Q08CW8, Q08DJ8, Q1LYG4, Q3SYZ3, Q502F0, Q56TN0, Q56TT7, Q5FVM5, Q5RCM9, Q5UEM7, Q5UEM8, Q61817, Q64210, Q66HA2, Q68CJ9, Q6QDP7, Q6ZPJ0
Diamond homologs: A1L224, A2VD01, O43889, O44743, P29747, Q08CW8, Q1LYG4, Q3SYZ3, Q4JFH9, Q502F0, Q5FVM5, Q5RCM9, Q5UEM7, Q5UEM8, Q61817, Q66HA2, Q68CJ9, Q6QDP7, Q70SY1, Q8BH52, Q8SQ19, Q8TEY5, Q91XE9, Q96BA8, Q9D2A5, Q9Z125, F6VAN0, G3V909, O35451, P18850, Q99941, Q54Y73, P27699, Q03060, Q03061, Q1LZH5, Q54RZ9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2426580 | NC_000001.10:g.(?153782653)(153964569_?)del | Pathogenic |
| 60012 | GRCh38/hg38 1q21.3(chr1:153939571-153978276)x1 | Pathogenic |
SpliceAI
3590 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:153972736:A:AG | acceptor_gain | 1.0000 |
| 1:153972737:C:G | acceptor_gain | 1.0000 |
| 1:153972742:A:AG | acceptor_gain | 1.0000 |
| 1:153972743:G:GA | acceptor_gain | 1.0000 |
| 1:153972743:GCT:G | acceptor_gain | 1.0000 |
| 1:153973193:AG:A | acceptor_gain | 1.0000 |
| 1:153973194:GG:G | acceptor_gain | 1.0000 |
| 1:153973260:ACAT:A | donor_gain | 1.0000 |
| 1:153973261:CAT:C | donor_gain | 1.0000 |
| 1:153973262:AT:A | donor_gain | 1.0000 |
| 1:153973263:TGTG:T | donor_loss | 1.0000 |
| 1:153973264:G:GA | donor_loss | 1.0000 |
| 1:153973264:G:GG | donor_gain | 1.0000 |
| 1:153973265:T:A | donor_loss | 1.0000 |
| 1:153973266:G:GT | donor_loss | 1.0000 |
| 1:153973714:G:GT | donor_gain | 1.0000 |
| 1:153973870:A:AG | acceptor_gain | 1.0000 |
| 1:153973871:G:GA | acceptor_gain | 1.0000 |
| 9:35732902:GTAG:G | donor_loss | 1.0000 |
| 9:35733214:GAGA:G | acceptor_gain | 1.0000 |
| 9:35735096:T:A | acceptor_gain | 1.0000 |
| 9:35735107:A:AG | acceptor_gain | 1.0000 |
| 9:35735108:G:GC | acceptor_gain | 1.0000 |
| 9:35735108:GA:G | acceptor_gain | 1.0000 |
| 9:35735108:GAC:G | acceptor_gain | 1.0000 |
| 9:35735108:GACA:G | acceptor_gain | 1.0000 |
| 9:35735180:G:GT | donor_gain | 1.0000 |
| 9:35735181:A:T | donor_gain | 1.0000 |
| 9:35735186:G:GT | donor_gain | 1.0000 |
| 9:35735187:A:T | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000001382 (1:153972654 A>G), RS1000069787 (1:153967407 G>C), RS1000101967 (1:153967761 G>A), RS1001142587 (1:153966841 T>C), RS1001172019 (1:153967289 C>G), RS1001193282 (1:153967887 C>G,T), RS1002434171 (1:153974501 A>C,G), RS1002811548 (1:153974044 G>A), RS1002848754 (1:153965533 A>C), RS1003656024 (1:153970838 A>G), RS1003788759 (1:153971056 C>G), RS1004144381 (1:153970397 G>A,T), RS1004520784 (1:153970143 G>A), RS1005358731 (1:153967359 C>G,T), RS1005433438 (1:153968909 T>A,C)
Disease associations
OMIM: gene MIM:607138 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003795_1 | Age at first birth | 6.000000e-10 |
| GCST004865_47 | Itch intensity from mosquito bite adjusted by bite size | 9.000000e-06 |
| GCST005751_3 | Empathy quotient | 3.000000e-07 |
| GCST006044_1 | Age at first birth | 3.000000e-07 |
| GCST006045_3 | Age at first birth | 5.000000e-06 |
| GCST006585_2820 | Blood protein levels | 2.000000e-30 |
| GCST010136_18 | Fruit consumption | 3.000000e-08 |
| GCST010137_3 | Cooked vegetable consumption | 3.000000e-09 |
| GCST010142_60 | Fish- and plant-related diet | 4.000000e-09 |
| GCST010142_92 | Fish- and plant-related diet | 6.000000e-14 |
| GCST010696_22 | Cortical thickness (min-P) | 4.000000e-10 |
| GCST010697_50 | Cortical surface area (min-P) | 1.000000e-12 |
| GCST010698_81 | Subcortical volume (min-P) | 1.000000e-23 |
| GCST010699_7 | Brain morphology (min-P) | 1.000000e-10 |
| GCST010700_11 | Cortical thickness (MOSTest) | 4.000000e-13 |
| GCST010701_73 | Cortical surface area (MOSTest) | 4.000000e-09 |
| GCST010702_45 | Subcortical volume (MOSTest) | 4.000000e-10 |
| GCST010703_276 | Brain morphology (MOSTest) | 2.000000e-15 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009101 | age at first birth measurement |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0009183 | empathy measurement |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 6 |
| Carbamazepine | affects expression | 2 |
| Estradiol | decreases expression | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methylselenic acid | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | 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-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Chelating Agents | affects binding, affects expression | 1 |
| Copper | affects binding, affects expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Diclofenac | affects expression | 1 |
| Formaldehyde | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8J8 | Ubigene HCT 116 CREB3L4 KO | Cancer cell line | Male |
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.