GOLGA1
gene geneOn this page
Also known as golgin-97MGC33154
Summary
GOLGA1 (golgin A1, HGNC:4424) is a protein-coding gene on chromosome 9q33.3, encoding Golgin subfamily A member 1 (Q92805). Involved in vesicular trafficking at the Golgi apparatus level.
The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein is associated with Sjogren’s syndrome.
Source: NCBI Gene 2800 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 124 total
- MANE Select transcript:
NM_002077
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4424 |
| Approved symbol | GOLGA1 |
| Name | golgin A1 |
| Location | 9q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | golgin-97, MGC33154 |
| Ensembl gene | ENSG00000136935 |
| Ensembl biotype | protein_coding |
| OMIM | 602502 |
| Entrez | 2800 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 13 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000373551, ENST00000373555, ENST00000421514, ENST00000475407, ENST00000485337, ENST00000605438, ENST00000876328, ENST00000876329, ENST00000876330, ENST00000876331, ENST00000876332, ENST00000876333, ENST00000928347, ENST00000959806, ENST00000959807, ENST00000959808, ENST00000959809
RefSeq mRNA: 1 — MANE Select: NM_002077
NM_002077
CCDS: CCDS6860
Canonical transcript exons
ENST00000373555 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000927047 | 124921129 | 124921240 |
| ENSE00000927048 | 124921723 | 124921892 |
| ENSE00000927051 | 124929216 | 124929290 |
| ENSE00000927052 | 124931316 | 124931406 |
| ENSE00001370040 | 124940106 | 124940155 |
| ENSE00001391363 | 124940971 | 124941083 |
| ENSE00001460861 | 124938577 | 124938866 |
| ENSE00001932564 | 124878275 | 124880610 |
| ENSE00003253422 | 124926709 | 124926741 |
| ENSE00003253445 | 124923095 | 124923223 |
| ENSE00003368519 | 124928188 | 124928285 |
| ENSE00003481192 | 124890389 | 124890478 |
| ENSE00003496932 | 124900452 | 124900547 |
| ENSE00003497027 | 124908377 | 124908472 |
| ENSE00003549371 | 124882510 | 124882569 |
| ENSE00003572727 | 124881784 | 124881954 |
| ENSE00003588657 | 124911901 | 124912026 |
| ENSE00003613279 | 124889143 | 124889303 |
| ENSE00003614596 | 124898549 | 124898644 |
| ENSE00003615035 | 124899329 | 124899478 |
| ENSE00003623825 | 124889434 | 124889536 |
| ENSE00003629209 | 124881171 | 124881257 |
| ENSE00003668569 | 124888253 | 124888396 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 94.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6243 / max 108.5483, expressed in 1751 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102456 | 3.9799 | 1567 |
| 102457 | 3.6335 | 1524 |
| 102458 | 0.0109 | 3 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 94.25 | gold quality |
| colonic epithelium | UBERON:0000397 | 87.93 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.40 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.28 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.44 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.32 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.28 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.22 | gold quality |
| right lobe of liver | UBERON:0001114 | 85.05 | gold quality |
| mucosa of stomach | UBERON:0001199 | 84.89 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.88 | gold quality |
| muscle of leg | UBERON:0001383 | 84.81 | gold quality |
| body of pancreas | UBERON:0001150 | 84.79 | gold quality |
| sperm | CL:0000019 | 84.66 | silver quality |
| lower esophagus | UBERON:0013473 | 84.66 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.66 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 84.44 | gold quality |
| granulocyte | CL:0000094 | 84.28 | gold quality |
| left adrenal gland | UBERON:0001234 | 84.24 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.01 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 83.90 | gold quality |
| adrenal gland | UBERON:0002369 | 83.78 | gold quality |
| skin of leg | UBERON:0001511 | 83.74 | gold quality |
| transverse colon | UBERON:0001157 | 83.65 | gold quality |
| skin of abdomen | UBERON:0001416 | 83.57 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.46 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 83.35 | gold quality |
| popliteal artery | UBERON:0002250 | 83.26 | gold quality |
| tibial artery | UBERON:0007610 | 83.26 | gold quality |
| male germ cell | CL:0000015 | 83.16 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.47 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
200 targeting GOLGA1, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| 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-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
Literature-anchored findings (GeneRIF, showing 7)
- Data show that Arl1 regulates the membrane recruitment of Golgin-97, which plays a role in transport from the endosome to the trans-Golgi network. (PMID:15269279)
- The ability of the four mammalian GRIP domain proteins, p230, golgin-97, GCC88, and GCC185 to interact is reported. (PMID:15654769)
- Selective and essential component of the tubulovesicular carriers transporting E-cadherin out of the trans-Golgi network. (PMID:16262725)
- Using RNA interference approach, it was demonstrated that a cellular trans-Golgi network membrane protein, golgin-97, is essential for Vaccinia virus replication. (PMID:17276477)
- FIP1/RCP binding to Golgin-97 is required for tethering and fusion of recycling endosome-derived retrograde transport vesicles to the trans-Golgi network. (PMID:20610657)
- Spatial proteomics defines the content of trafficking vesicles captured by golgin tethers. (PMID:33239640)
- PKD-dependent PARP12-catalyzed mono-ADP-ribosylation of Golgin-97 is required for E-cadherin transport from Golgi to plasma membrane. (PMID:34969853)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | golga1 | ENSDARG00000008979 |
| mus_musculus | Golga1 | ENSMUSG00000026754 |
| rattus_norvegicus | Golga1 | ENSRNOG00000014493 |
| drosophila_melanogaster | Golgin97 | FBGN0086757 |
Paralogs (1): GCC1 (ENSG00000179562)
Protein
Protein identifiers
Golgin subfamily A member 1 — Q92805 (reviewed: Q92805)
Alternative names: Golgin-97
All UniProt accessions (4): Q92805, H0YE54, Q5T165, R4GNH1
UniProt curated annotations — full annotation on UniProt →
Function. Involved in vesicular trafficking at the Golgi apparatus level. Involved in endosome-to-Golgi trafficking. Mechanistically, captures transport vesicles arriving from endosomes via the protein TBC1D23. Recognized vesicles are then tethered to the trans-Golgi before subsequent SNARE engagement and vesicle fusion. Selectively regulates E-cadherin transport from the trans-Golgi network in tubulovesicular carriers. (Microbial infection) Plays an important role in poxvirus morphogenesis. Translocates into the viral factories where it may transport the membrane fragments and associated protein factors important for virus maturation to the sites of virion assembly.
Subunit / interactions. Interacts with RAB6A. Directly interacts with TBC1D23. Interacts with FAM91A1; this interaction may be mediated by TBC1D23. Interacts with ARL1; this interaction recruits Golgin-97/GOLGA1 onto the Golgi apparatus.
Subcellular location. Golgi apparatus membrane. Golgi apparatus. trans-Golgi network membrane. Cytoplasmic vesicle. Secretory vesicle. Acrosome.
Post-translational modifications. MARylated by PARP12; MARylation is required for basolateral export of E-Cadherin.
Miscellaneous. Antibodies against GOLGA1 are present in sera from patients with Sjoegren syndrome. Sera from patients with Sjoegren syndrome often contain antibodies that react with normal components of the Golgi complex.
RefSeq proteins (1): NP_002068* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000237 | GRIP_dom | Domain |
| IPR051952 | Golgi-autophagy_related | Family |
Pfam: PF01465
UniProt features (30 total): mutagenesis site 16, modified residue 6, sequence variant 3, region of interest 2, chain 1, domain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92805-F1 | 79.05 | 0.55 |
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): 51, 30, 36, 41, 47, 50
Mutagenesis-validated functional residues (16):
| Position | Phenotype |
|---|---|
| 2 | loss of tbc1d23-binding. |
| 4 | no effect on tbc1d23-binding. |
| 5 | loss of tbc1d23-binding. |
| 6 | decreased tbc1d23-binding. |
| 7 | no effect on tbc1d23-binding. |
| 8 | no effect on tbc1d23-binding. |
| 9 | decreased tbc1d23-binding. |
| 11 | no effect on tbc1d23-binding. |
| 12 | no effect on tbc1d23-binding. |
| 695 | no effect on rab6a-binding, nor on targeting to the golgi apparatus. |
| 696 | no effect on rab6a-binding, nor on targeting to the golgi apparatus. |
| 697 | loss of rab6a-binding and of targeting to the golgi apparatus. |
| 698 | no effect on rab6a-binding, nor on targeting to the golgi apparatus. |
| 742 | no effect on subcellular localization at the golgi apparatus. |
| 743 | no effect on subcellular localization at the golgi apparatus, small decrease in rab6a-binding. |
| 744 | drastically reduced targeting to the golgi apparatus, small decrease in rab6a-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6811440 | Retrograde transport at the Trans-Golgi-Network |
MSigDB gene sets: 185 (showing top):
HNF3ALPHA_Q6, YANG_BREAST_CANCER_ESR1_LASER_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, GOCC_SECRETORY_GRANULE, REACTOME_MEMBRANE_TRAFFICKING, FOXD3_01, GOCC_TRANS_GOLGI_NETWORK, BLALOCK_ALZHEIMERS_DISEASE_UP, HFH8_01, GOBP_TRANSEPITHELIAL_TRANSPORT, FOXJ2_01, HFH4_01, HFH3_01, MODULE_157
GO Biological Process (2): transepithelial transport (GO:0070633), cell-cell adhesion mediated by cadherin (GO:0044331)
GO Molecular Function (2): molecular carrier activity (GO:0140104), protein binding (GO:0005515)
GO Cellular Component (8): Golgi membrane (GO:0000139), acrosomal vesicle (GO:0001669), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), perinuclear region of cytoplasm (GO:0048471), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
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 |
|---|---|
| cytoplasm | 4 |
| cellular anatomical structure | 3 |
| binding | 2 |
| transport | 1 |
| cell-cell adhesion | 1 |
| molecular_function | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| secretory granule | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| Golgi apparatus subcompartment | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
1820 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GOLGA1 | GOLGA4 | Q13439 | 836 |
| GOLGA1 | GOLGB1 | Q14789 | 781 |
| GOLGA1 | GOLGA3 | Q08378 | 742 |
| GOLGA1 | GOLGA2 | Q08379 | 741 |
| GOLGA1 | RAB6A | P20340 | 740 |
| GOLGA1 | TGOLN2 | O43493 | 721 |
| GOLGA1 | GCC1 | Q96CN9 | 720 |
| GOLGA1 | GCC2 | Q8IWJ2 | 719 |
| GOLGA1 | TBC1D23 | Q9NUY8 | 703 |
| GOLGA1 | RGPD8 | O14715 | 671 |
| GOLGA1 | GRIP1 | Q9Y3R0 | 668 |
| GOLGA1 | EEA1 | Q15075 | 626 |
| GOLGA1 | GORASP1 | Q9BQQ3 | 599 |
| GOLGA1 | GOLGA8B | A8MQT2 | 595 |
| GOLGA1 | GOLGA5 | Q8TBA6 | 594 |
IntAct
88 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATF4 | GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GOLGA1 | VPS52 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GOLGA1 | ATF4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GOLGA1 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.720 |
| VPS52 | GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TFIP11 | GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CEP57L1 | GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA1 | CEP57L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| GOLGA1 | SLAIN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TP53BP2 | GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA1 | PPP1R13B | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA1 | LZTS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFHC2 | GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSF2BP | GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIAA1328 | GOLGA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (185): GOLGA1 (Two-hybrid), VPS52 (Two-hybrid), TFIP11 (Two-hybrid), PDCL2 (Two-hybrid), CEP57L1 (Two-hybrid), TDP1 (Co-fractionation), ARL1 (Two-hybrid), GOLGA1 (Affinity Capture-MS), GOLGA1 (Affinity Capture-MS), GOLGA1 (Affinity Capture-MS), GOLGA1 (Affinity Capture-MS), GOLGA1 (Affinity Capture-MS), GOLGA1 (Affinity Capture-MS), GOLGA1 (Affinity Capture-RNA), GOLGA1 (Two-hybrid)
ESM2 similar proteins: A0A2R8QCI3, A0JMK8, A3KGV1, A7YH32, A9X1A5, B0KWC9, B6MFW3, B8JK76, G5E861, G9G127, O35550, O35551, P59242, P85120, Q15276, Q3V6T2, Q502I3, Q5BJF6, Q5RG45, Q5SNZ0, Q5TZ80, Q5ZJ27, Q5ZKK5, Q66GS9, Q66KE8, Q6AYX5, Q6DIX6, Q6NRB0, Q6P402, Q6P5D4, Q6PGZ0, Q6VGS5, Q6ZU80, Q7TMK6, Q80UF4, Q80YF0, Q80YT7, Q86SQ7, Q8BIL5, Q8CJ99
Diamond homologs: Q92805, Q9CW79
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
124 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 8 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4497 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:124881831:A:AC | donor_gain | 1.0000 |
| 9:124881832:C:CC | donor_gain | 1.0000 |
| 9:124881835:A:AC | donor_gain | 1.0000 |
| 9:124881836:A:C | donor_gain | 1.0000 |
| 9:124882506:TCA:T | donor_loss | 1.0000 |
| 9:124882507:CA:C | donor_loss | 1.0000 |
| 9:124882508:A:AC | donor_gain | 1.0000 |
| 9:124882509:C:CC | donor_gain | 1.0000 |
| 9:124882509:C:G | donor_loss | 1.0000 |
| 9:124882509:CCAG:C | donor_gain | 1.0000 |
| 9:124882588:C:CT | acceptor_gain | 1.0000 |
| 9:124882588:C:T | acceptor_gain | 1.0000 |
| 9:124888247:CCTCA:C | donor_loss | 1.0000 |
| 9:124888248:CTCA:C | donor_loss | 1.0000 |
| 9:124888251:A:T | donor_loss | 1.0000 |
| 9:124889137:ACTT:A | donor_loss | 1.0000 |
| 9:124889138:CTTA:C | donor_loss | 1.0000 |
| 9:124889140:TACG:T | donor_loss | 1.0000 |
| 9:124889141:A:AC | donor_gain | 1.0000 |
| 9:124889141:A:AG | donor_loss | 1.0000 |
| 9:124889142:C:CA | donor_gain | 1.0000 |
| 9:124889142:CG:C | donor_gain | 1.0000 |
| 9:124889142:CGT:C | donor_gain | 1.0000 |
| 9:124889142:CGTG:C | donor_gain | 1.0000 |
| 9:124889304:C:CA | acceptor_loss | 1.0000 |
| 9:124889304:C:CC | acceptor_gain | 1.0000 |
| 9:124889305:T:C | acceptor_loss | 1.0000 |
| 9:124889428:CCTCA:C | donor_loss | 1.0000 |
| 9:124889429:CTCAC:C | donor_loss | 1.0000 |
| 9:124889430:TCACC:T | donor_loss | 1.0000 |
AlphaMissense
5057 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:124880599:A:C | F745L | 0.999 |
| 9:124880599:A:T | F745L | 0.999 |
| 9:124880601:A:G | F745L | 0.999 |
| 9:124880604:A:G | W744R | 0.999 |
| 9:124880604:A:T | W744R | 0.999 |
| 9:124881247:A:G | L716P | 0.999 |
| 9:124881805:G:C | F705L | 0.999 |
| 9:124881805:G:T | F705L | 0.999 |
| 9:124881807:A:G | F705L | 0.999 |
| 9:124881815:A:T | V702D | 0.999 |
| 9:124881827:A:G | L698P | 0.999 |
| 9:124881831:A:G | Y697H | 0.999 |
| 9:124880602:C:A | W744C | 0.998 |
| 9:124880602:C:G | W744C | 0.998 |
| 9:124881223:A:G | L724P | 0.998 |
| 9:124881806:A:G | F705S | 0.998 |
| 9:124881823:T:A | K699N | 0.998 |
| 9:124881823:T:G | K699N | 0.998 |
| 9:124881824:T:A | K699I | 0.998 |
| 9:124881827:A:T | L698H | 0.998 |
| 9:124881830:T:C | Y697C | 0.998 |
| 9:124929245:A:G | L91P | 0.998 |
| 9:124881193:A:G | L734P | 0.997 |
| 9:124881238:G:T | A719D | 0.997 |
| 9:124881818:A:T | V701E | 0.997 |
| 9:124929237:C:G | A94P | 0.997 |
| 9:124931321:A:G | L74P | 0.997 |
| 9:124881181:A:G | L738P | 0.996 |
| 9:124881193:A:T | L734H | 0.996 |
| 9:124881217:A:G | F726S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000035087 (9:124930606 C>G), RS1000080621 (9:124926940 T>C), RS1000124451 (9:124882384 C>A,T), RS1000159124 (9:124879024 A>C), RS1000264322 (9:124923575 G>C,T), RS1000352028 (9:124914919 G>C), RS1000362144 (9:124917659 C>T), RS1000478127 (9:124917848 T>G), RS1000500118 (9:124911370 T>C), RS1000504194 (9:124885732 C>A,T), RS1000615998 (9:124916701 T>C), RS1000627685 (9:124905073 G>A), RS1000774769 (9:124905410 C>T), RS1000776645 (9:124898899 A>G), RS1000830142 (9:124942091 C>G)
Disease associations
OMIM: gene MIM:602502 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 7 |
| entinostat | decreases expression, affects cotreatment | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| beauvericin | affects cotreatment, decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | decreases ADP-ribosylation | 1 |
| enniatins | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Caffeine | increases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phthalic Acids | increases methylation | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression | 1 |
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.