GOLIM4
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Also known as GPP130GIMPCP138
Summary
GOLIM4 (golgi integral membrane protein 4, HGNC:15448) is a protein-coding gene on chromosome 3q26.2, encoding Golgi integral membrane protein 4 (O00461). Plays a role in endosome to Golgi protein trafficking; mediates protein transport along the late endosome-bypass pathway from the early endosome to the Golgi.
The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus.
Source: NCBI Gene 27333 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 133 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_014498
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15448 |
| Approved symbol | GOLIM4 |
| Name | golgi integral membrane protein 4 |
| Location | 3q26.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GPP130, GIMPC, P138 |
| Ensembl gene | ENSG00000173905 |
| Ensembl biotype | protein_coding |
| OMIM | 606805 |
| Entrez | 27333 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 18 protein_coding, 1 retained_intron
ENST00000309027, ENST00000470487, ENST00000479415, ENST00000852497, ENST00000852498, ENST00000852499, ENST00000852500, ENST00000852501, ENST00000852502, ENST00000852503, ENST00000852504, ENST00000852505, ENST00000852506, ENST00000852507, ENST00000920079, ENST00000959312, ENST00000959313, ENST00000959314, ENST00000959315
RefSeq mRNA: 2 — MANE Select: NM_014498
NM_001308155, NM_014498
CCDS: CCDS3204, CCDS77854
Canonical transcript exons
ENST00000470487 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001204601 | 168010743 | 168010823 |
| ENSE00001204604 | 168024526 | 168024594 |
| ENSE00001204608 | 168024928 | 168025095 |
| ENSE00001204611 | 168027728 | 168027837 |
| ENSE00001204614 | 168029223 | 168029302 |
| ENSE00001204618 | 168029780 | 168030036 |
| ENSE00001204623 | 168032520 | 168032852 |
| ENSE00001204627 | 168036836 | 168036994 |
| ENSE00001204630 | 168040786 | 168040869 |
| ENSE00001204634 | 168041392 | 168041474 |
| ENSE00001204646 | 168046950 | 168046999 |
| ENSE00001204652 | 168048291 | 168048365 |
| ENSE00001204660 | 168095099 | 168095924 |
| ENSE00001835996 | 168008689 | 168010418 |
| ENSE00003473297 | 168043379 | 168043529 |
| ENSE00003573621 | 168044828 | 168044881 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 99.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1906 / max 234.7217, expressed in 1749 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 45483 | 10.6259 | 1711 |
| 45477 | 2.1286 | 933 |
| 45481 | 1.1426 | 560 |
| 45482 | 1.0690 | 528 |
| 45473 | 0.5769 | 273 |
| 45474 | 0.3249 | 133 |
| 45472 | 0.2164 | 82 |
| 45480 | 0.1063 | 39 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 99.25 | gold quality |
| tendon | UBERON:0000043 | 98.29 | gold quality |
| tibia | UBERON:0000979 | 98.11 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.05 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.91 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.26 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 96.86 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.58 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.98 | gold quality |
| duodenum | UBERON:0002114 | 95.86 | gold quality |
| rectum | UBERON:0001052 | 95.50 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.44 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.40 | gold quality |
| jejunum | UBERON:0002115 | 95.30 | gold quality |
| sural nerve | UBERON:0015488 | 95.17 | gold quality |
| medial globus pallidus | UBERON:0002477 | 95.10 | gold quality |
| cranial nerve II | UBERON:0000941 | 95.03 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.74 | gold quality |
| synovial joint | UBERON:0002217 | 94.39 | gold quality |
| visceral pleura | UBERON:0002401 | 94.12 | gold quality |
| pericardium | UBERON:0002407 | 94.06 | gold quality |
| skin of hip | UBERON:0001554 | 93.99 | gold quality |
| globus pallidus | UBERON:0001875 | 93.80 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.28 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 93.24 | gold quality |
| ventricular zone | UBERON:0003053 | 93.08 | gold quality |
| mammary duct | UBERON:0001765 | 92.83 | gold quality |
| corpus callosum | UBERON:0002336 | 92.82 | gold quality |
| lower lobe of lung | UBERON:0008949 | 92.79 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 92.17 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 37.85 |
| E-GEOD-137537 | yes | 29.44 |
| E-MTAB-7316 | yes | 26.90 |
| E-MTAB-6678 | yes | 23.79 |
| E-CURD-112 | yes | 13.61 |
| E-GEOD-76312 | no | 738.00 |
| E-MTAB-4850 | no | 312.67 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
123 targeting GOLIM4, 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-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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| 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-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
Literature-anchored findings (GeneRIF, showing 10)
- both the translation and transcription are regulated independent of the cell cycle and dissociated from the duplication of the centrosome (PMID:12207053)
- GPP130 mediates exit from endosomes and thereby underlies Shiga toxin invasion and retrieval-based targeting of other cycling Golgi proteines (PMID:15331763)
- Multiple pH-regulated steps affect the trafficking of GPP130. (PMID:17605763)
- the stem domain of GPP130 is a novel Mn sensor in the Golgi lumen of mammalian cells (PMID:20130081)
- Characteristics of GPP130 and its STx/STx1 binding interface. (PMID:23761068)
- Findings suggest the unexpected presence of quality control in the Golgi that recognizes aggregated Golgi proteins, GPP130, and targets them for degradation in lysosomes. (PMID:26446839)
- Authors provide evidence that Mn-induced exit of GPP130 from the trans-Golgi network (TGN) toward lysosomes is mediated by the sorting receptor sortilin interacting with the lumenal stem domain of GPP130. (PMID:28768823)
- MiR-105-3p acts as an oncogene to promote the proliferation and metastasis of breast cancer cells by targeting GOLIM4. (PMID:33722196)
- RBFOX2/GOLIM4 Splicing Axis Activates Vesicular Transport Pathway to Promote Nasopharyngeal Carcinogenesis. (PMID:34180133)
- CircRNA RNF10 inhibits tumorigenicity by targeting miR-942-5p/GOLIM4 axis in breast cancer. (PMID:36054164)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:66479 | ENSDARG00000008732 |
| mus_musculus | Golim4 | ENSMUSG00000034109 |
| rattus_norvegicus | Golim4 | ENSRNOG00000024213 |
Protein
Protein identifiers
Golgi integral membrane protein 4 — O00461 (reviewed: O00461)
Alternative names: Golgi integral membrane protein, cis, Golgi phosphoprotein 4, Golgi-localized phosphoprotein of 130 kDa
All UniProt accessions (2): O00461, F8W785
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in endosome to Golgi protein trafficking; mediates protein transport along the late endosome-bypass pathway from the early endosome to the Golgi.
Subcellular location. Golgi apparatus. Golgi stack membrane. Endosome membrane. Membrane.
Post-translational modifications. Phosphorylated probably by c-AMP-dependent kinases in its lumenal part. O-glycosylated; modified by sialic acid residues. N-glycosylated; N-glycans are probably of the complex type and modified by sialic acid residues.
Similarity. Belongs to the GOLIM4 family.
RefSeq proteins (2): NP_001295084, NP_055313* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR042336 | GOLIM4 | Family |
UniProt features (34 total): compositionally biased region 14, region of interest 6, modified residue 5, topological domain 2, initiator methionine 1, chain 1, coiled-coil region 1, transmembrane region 1, lipid moiety-binding region 1, glycosylation site 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00461-F1 | 68.20 | 0.39 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 364, 538, 613, 626, 673, 2
Glycosylation sites (1): 257
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6811438 | Intra-Golgi traffic |
MSigDB gene sets: 188 (showing top):
BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, GOLDRATH_IMMUNE_MEMORY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, REACTOME_MEMBRANE_TRAFFICKING, chr3q26, PUJANA_CHEK2_PCC_NETWORK, BROWNE_HCMV_INFECTION_48HR_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, BLALOCK_ALZHEIMERS_DISEASE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, MODULE_99, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GRUETZMANN_PANCREATIC_CANCER_UP, IZADPANAH_STEM_CELL_ADIPOSE_VS_BONE_UP
GO Biological Process (0):
GO Molecular Function (0):
GO Cellular Component (10): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi lumen (GO:0005796), cis-Golgi network (GO:0005801), endosome membrane (GO:0010008), membrane (GO:0016020), transport vesicle (GO:0030133), endocytic vesicle (GO:0030139), Golgi cisterna membrane (GO:0032580), endosome (GO:0005768)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| Golgi apparatus | 3 |
| endomembrane system | 3 |
| cytoplasmic vesicle | 3 |
| bounding membrane of organelle | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 1 |
| intracellular organelle lumen | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| cellular anatomical structure | 1 |
| organelle membrane | 1 |
| Golgi cisterna | 1 |
Protein interactions and networks
STRING
724 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GOLIM4 | GOLPH3 | Q9H4A6 | 715 |
| GOLIM4 | STX5 | Q13190 | 705 |
| GOLIM4 | GOLGB1 | Q14789 | 668 |
| GOLIM4 | STX1A | Q16623 | 604 |
| GOLIM4 | GOLGA5 | Q8TBA6 | 578 |
| GOLIM4 | TGOLN2 | O43493 | 575 |
| GOLIM4 | GOSR1 | O95249 | 571 |
| GOLIM4 | GOLM1 | Q8NBJ4 | 545 |
| GOLIM4 | TMEM165 | Q9HC07 | 527 |
| GOLIM4 | GOLGA1 | Q92805 | 511 |
| GOLIM4 | COG4 | Q9H9E3 | 508 |
| GOLIM4 | COG3 | Q96JB2 | 507 |
| GOLIM4 | GOLGA2 | Q08379 | 507 |
| GOLIM4 | COG8 | Q96MW5 | 506 |
| GOLIM4 | PDIA3 | P30101 | 502 |
IntAct
160 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| B3GAT3 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.640 |
| ASPH | STXBP3 | psi-mi:“MI:0914”(association) | 0.640 |
| POMK | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| GDPD5 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNS3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| FUT1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| FCGRT | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| SPACA1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| UST | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| PTPN1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| HLA-DPA1 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| PBXIP1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| MRAP2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| DCAF12 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| PTPRU | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (166): GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS)
ESM2 similar proteins: A2AM05, A2BDC9, A2VD12, A2VE10, A5D8S1, B1AJZ9, O00461, O75071, P04233, P04441, P07106, P10247, P24054, P70663, Q08D19, Q14515, Q32N32, Q4KLH6, Q4V9H3, Q5BJK8, Q5PQS2, Q5R5X4, Q5R6R3, Q5R8Y4, Q5R9L2, Q5T8D3, Q5TB80, Q5ZHQ6, Q5ZKQ5, Q5ZM60, Q640L3, Q6P2L7, Q6P4E1, Q6Y685, Q6ZQ06, Q70YC5, Q86TE4, Q8BG89, Q8BMK4, Q8BVV7
Diamond homologs: O00461, Q08D19, Q5BJK8, Q8BXA1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 164 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 |
|---|---|---|---|
| SLC-mediated transmembrane transport | 9 | 5.6× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| zinc ion transmembrane transport | 5 | 27.0× | 2e-04 |
| intracellular zinc ion homeostasis | 6 | 22.2× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
133 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 6 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 686844 | GRCh37/hg19 3q26.1-26.2(chr3:165603872-168796960)x1 | Pathogenic |
SpliceAI
3429 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:168010414:TCAGT:T | acceptor_gain | 1.0000 |
| 3:168010415:CAGT:C | acceptor_gain | 1.0000 |
| 3:168010415:CAGTC:C | acceptor_gain | 1.0000 |
| 3:168010416:AGTC:A | acceptor_loss | 1.0000 |
| 3:168010417:GT:G | acceptor_gain | 1.0000 |
| 3:168010417:GTC:G | acceptor_loss | 1.0000 |
| 3:168010418:TCTT:T | acceptor_loss | 1.0000 |
| 3:168010419:C:CC | acceptor_gain | 1.0000 |
| 3:168010420:T:C | acceptor_gain | 1.0000 |
| 3:168010420:T:TC | acceptor_gain | 1.0000 |
| 3:168010426:T:C | acceptor_gain | 1.0000 |
| 3:168010426:T:TC | acceptor_gain | 1.0000 |
| 3:168010741:A:AC | donor_gain | 1.0000 |
| 3:168010742:C:CC | donor_gain | 1.0000 |
| 3:168024527:T:TA | donor_gain | 1.0000 |
| 3:168024542:T:TA | donor_gain | 1.0000 |
| 3:168024922:GCTTA:G | donor_loss | 1.0000 |
| 3:168024924:TTACC:T | donor_loss | 1.0000 |
| 3:168024925:TACCA:T | donor_loss | 1.0000 |
| 3:168024926:A:AG | donor_loss | 1.0000 |
| 3:168024927:C:CA | donor_loss | 1.0000 |
| 3:168024927:CCA:C | donor_gain | 1.0000 |
| 3:168025091:GCCCT:G | acceptor_gain | 1.0000 |
| 3:168025092:CCCT:C | acceptor_gain | 1.0000 |
| 3:168025092:CCCTC:C | acceptor_gain | 1.0000 |
| 3:168025093:CCT:C | acceptor_gain | 1.0000 |
| 3:168025093:CCTC:C | acceptor_gain | 1.0000 |
| 3:168025094:CT:C | acceptor_gain | 1.0000 |
| 3:168025094:CTC:C | acceptor_gain | 1.0000 |
| 3:168025095:TCTG:T | acceptor_loss | 1.0000 |
AlphaMissense
4649 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:168041405:A:G | L196P | 0.998 |
| 3:168041438:A:G | L185P | 0.998 |
| 3:168043513:A:G | L128P | 0.998 |
| 3:168046976:C:G | A96P | 0.998 |
| 3:168048341:A:G | L71S | 0.998 |
| 3:168040791:C:G | A227P | 0.997 |
| 3:168048333:A:G | S74P | 0.997 |
| 3:168095104:A:G | L61S | 0.997 |
| 3:168048348:A:G | S69P | 0.996 |
| 3:168048353:T:G | H67P | 0.996 |
| 3:168025033:A:C | F562L | 0.995 |
| 3:168025033:A:T | F562L | 0.995 |
| 3:168025035:A:G | F562L | 0.995 |
| 3:168040803:C:G | A223P | 0.995 |
| 3:168041430:C:G | A188P | 0.995 |
| 3:168043417:A:G | L160P | 0.995 |
| 3:168044853:A:G | L114P | 0.995 |
| 3:168095116:A:G | L57P | 0.995 |
| 3:168095200:C:T | G29D | 0.995 |
| 3:168036969:A:G | L237P | 0.994 |
| 3:168046983:C:A | K93N | 0.994 |
| 3:168046983:C:G | K93N | 0.994 |
| 3:168048354:G:C | H67D | 0.994 |
| 3:168040832:A:G | L213P | 0.993 |
| 3:168043384:A:G | L171P | 0.993 |
| 3:168044875:A:G | S107P | 0.993 |
| 3:168095201:C:G | G29R | 0.993 |
| 3:168095212:C:T | G25D | 0.993 |
| 3:168095213:C:G | G25R | 0.993 |
| 3:168040799:A:G | L224P | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000055971 (3:168023153 T>C), RS1000062286 (3:168033485 T>C), RS1000142322 (3:168048166 C>T), RS1000156834 (3:168053087 C>T), RS1000195406 (3:168048550 G>A), RS1000237090 (3:168068355 C>T), RS1000262241 (3:168051014 G>A), RS1000289931 (3:168091318 T>C), RS1000378434 (3:168062557 G>A), RS1000413443 (3:168033270 A>G), RS1000414638 (3:168014224 C>G,T), RS1000416059 (3:168082567 G>A), RS1000486883 (3:168056528 A>G), RS1000498152 (3:168065892 T>A,C,G), RS1000597834 (3:168059549 C>A,G)
Disease associations
OMIM: gene MIM:606805 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000175_48 | Height | 7.000000e-06 |
| GCST001859_28 | Thiazide-induced adverse metabolic effects in hypertensive patients | 6.000000e-08 |
| GCST002547_3 | Epilepsy | 4.000000e-07 |
| GCST003791_8 | Response to metformin (IC50) | 7.000000e-06 |
| GCST005758_6 | Dimensional psychopathology (Arousal) | 1.000000e-07 |
| GCST006991_1 | Cerebrospinal fluid t-tau levels in Alzheimer’s disease dementia | 5.000000e-07 |
| GCST012489_132 | Heel bone mineral density x serum urate levels interaction | 1.000000e-09 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0006952 | cytotoxicity measurement |
| EFO:0009099 | arousal domain measurement |
| EFO:0004760 | t-tau measurement |
| EFO:0004531 | urate measurement |
| EFO:0009270 | heel bone mineral density |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067059 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.57 | Kd | 2711 | nM | CHEMBL5653589 |
| 5.57 | ED50 | 2711 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148449: Binding affinity to human GOLIM4 incubated for 45 mins by Kinobead based pull down assay | kd | 2.7108 | uM |
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation | 3 |
| bisphenol S | decreases expression, decreases methylation | 2 |
| Estradiol | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| geldanamycin | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| chloroacetaldehyde | decreases expression | 1 |
| quercitrin | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| cylindrospermopsin | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| torcetrapib | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Rosiglitazone | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Cidofovir | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases mutagenesis | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651491 | Binding | Binding affinity to human GOLIM4 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2Y0 | Abcam HEK293T GOLIM4 KO | Transformed cell line | Female |
| CVCL_E1Y8 | HAP1 GOLIM4 (-) 1 | Cancer cell line | Male |
| CVCL_E1Y9 | HAP1 GOLIM4 (-) 2 | Cancer cell line | Male |
| CVCL_E1YA | HAP1 GOLIM4 (-) 3 | Cancer cell line | Male |
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): epilepsy