RIC8B
gene geneOn this page
Also known as FLJ10620hSynRIC8
Summary
RIC8B (RIC8 guanine nucleotide exchange factor B, HGNC:25555) is a protein-coding gene on chromosome 12q23.3, encoding Chaperone Ric-8B (Q9NVN3). Chaperone that specifically binds and folds nascent G(s) G-alpha proteins (GNAS and GNAL) prior to G protein heterotrimer formation, promoting their association with the plasma membrane.
Enables G-protein alpha-subunit binding activity. Acts upstream of or within regulation of G protein-coupled receptor signaling pathway. Located in centrosome; cytosol; and plasma membrane.
Source: NCBI Gene 55188 — RefSeq curated summary.
At a glance
- GWAS associations: 25
- Clinical variants (ClinVar): 43 total
- MANE Select transcript:
NM_001330145
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25555 |
| Approved symbol | RIC8B |
| Name | RIC8 guanine nucleotide exchange factor B |
| Location | 12q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10620, hSyn, RIC8 |
| Ensembl gene | ENSG00000111785 |
| Ensembl biotype | protein_coding |
| OMIM | 609147 |
| Entrez | 55188 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron
ENST00000355478, ENST00000392837, ENST00000392839, ENST00000462949, ENST00000470628, ENST00000470960, ENST00000546449, ENST00000548914, ENST00000549643, ENST00000550215, ENST00000551756, ENST00000552619
RefSeq mRNA: 10 — MANE Select: NM_001330145
NM_001330145, NM_001330146, NM_001330147, NM_001351361, NM_001351362, NM_001351363, NM_001351364, NM_001351366, NM_001351367, NM_018157
CCDS: CCDS81733, CCDS81734, CCDS86331, CCDS9109
Canonical transcript exons
ENST00000392837 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001688673 | 106885904 | 106889316 |
| ENSE00003507867 | 106774682 | 106774829 |
| ENSE00003525714 | 106783997 | 106784044 |
| ENSE00003532843 | 106814696 | 106815304 |
| ENSE00003535310 | 106842589 | 106842817 |
| ENSE00003553505 | 106825726 | 106825820 |
| ENSE00003609511 | 106851450 | 106851594 |
| ENSE00003610462 | 106843852 | 106843947 |
| ENSE00003628202 | 106870823 | 106870942 |
| ENSE00003637066 | 106860268 | 106860412 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 89.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0734 / max 121.5649, expressed in 1436 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 127838 | 2.1808 | 1024 |
| 127837 | 1.5100 | 811 |
| 127839 | 0.3826 | 150 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 89.48 | gold quality |
| caudate nucleus | UBERON:0001873 | 89.47 | gold quality |
| putamen | UBERON:0001874 | 88.96 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.64 | gold quality |
| ventricular zone | UBERON:0003053 | 87.33 | gold quality |
| nucleus accumbens | UBERON:0001882 | 86.85 | gold quality |
| cortical plate | UBERON:0005343 | 86.76 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.27 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.14 | gold quality |
| pancreatic ductal cell | CL:0002079 | 85.96 | silver quality |
| right lobe of thyroid gland | UBERON:0001119 | 85.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.63 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 85.11 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 84.72 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.66 | gold quality |
| gall bladder | UBERON:0002110 | 84.59 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.47 | gold quality |
| thyroid gland | UBERON:0002046 | 84.24 | gold quality |
| embryo | UBERON:0000922 | 84.12 | gold quality |
| cerebellum | UBERON:0002037 | 84.09 | gold quality |
| sural nerve | UBERON:0015488 | 84.03 | gold quality |
| popliteal artery | UBERON:0002250 | 83.53 | gold quality |
| tibial artery | UBERON:0007610 | 83.52 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 83.36 | gold quality |
| pancreas | UBERON:0001264 | 83.29 | gold quality |
| heart left ventricle | UBERON:0002084 | 83.29 | gold quality |
| tibial nerve | UBERON:0001323 | 83.28 | gold quality |
| cardiac ventricle | UBERON:0002082 | 83.24 | gold quality |
| cerebellar vermis | UBERON:0004720 | 83.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.34 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPB, SMARCA1
miRNA regulators (miRDB)
146 targeting RIC8B, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
Literature-anchored findings (GeneRIF, showing 4)
- We identified a protein member of the synembryn family as one of the interacting proteins in human brain. Gqalpha also interacts with synembryn. Synembryn translocates to the plasma membrane in response to carbachol and isoproterenol. (PMID:12652642)
- Ric-8B plays a critical and specific role in the control of G alpha(s) protein levels by modulating G alpha(s) ubiquitination and positively regulates G(s) signaling (PMID:20133939)
- these data show the existence of functional CREB and C/EBP binding sites in the human RIC8B gene promoter, a particular distribution of these sites and demonstrate a relevant role of CREB in stimulating transcriptional activity of this gene. (PMID:26729411)
- overexpression of ARMS blocked NGF-mediated secretion, without affecting basal secretion, a decrease in ARMS resulted in potentiation. Similar effects were observed with synembryn-B, a protein that interacts directly with ARMS. Downstream of ARMS and synembryn-B are Galphaq and Trio proteins, which modulate the activity of Rac1 in response to NGF (PMID:26966186)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ric8b | ENSDARG00000005972 |
| mus_musculus | Ric8b | ENSMUSG00000035620 |
| rattus_norvegicus | Ric8b | ENSRNOG00000007323 |
| drosophila_melanogaster | ric8a | FBGN0028292 |
| caenorhabditis_elegans | WBGENE00004367 |
Paralogs (1): RIC8A (ENSG00000177963)
Protein
Protein identifiers
Chaperone Ric-8B — Q9NVN3 (reviewed: Q9NVN3)
Alternative names: Brain synembryn, Synembryn-B
All UniProt accessions (7): Q9NVN3, B7WPL0, F8VR30, F8VSN5, F8VY51, H0YHS3, J3QRA4
UniProt curated annotations — full annotation on UniProt →
Function. Chaperone that specifically binds and folds nascent G(s) G-alpha proteins (GNAS and GNAL) prior to G protein heterotrimer formation, promoting their association with the plasma membrane. Also acts as a guanine nucleotide exchange factor (GEF) for G(s) proteins by stimulating exchange of bound GDP for free GTP. Acts as an important component for odorant signal transduction by mediating GNAL (G(olf)-alpha) folding, thereby promoting-dependent cAMP accumulation in olfactory sensory neurons.
Subunit / interactions. Interacts with GDP-bound G alpha proteins, GNAL, GNAS and GNAQ. Does not interact with G-alpha proteins when they are in complex with subunits beta and gamma.
Subcellular location. Cytoplasm. Cell cortex.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the synembryn family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVN3-5 | 5 | yes |
| Q9NVN3-1 | 1 | |
| Q9NVN3-3 | 3 | |
| Q9NVN3-4 | 4 |
RefSeq proteins (10): NP_001317074, NP_001317075, NP_001317076, NP_001338290, NP_001338291, NP_001338292, NP_001338293, NP_001338295, NP_001338296, NP_060627 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008376 | Chaperone_Ric-8_A/B | Domain |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR019318 | Gua_nucleotide_exch_fac_Ric8 | Family |
Pfam: PF10165
UniProt features (11 total): splice variant 5, modified residue 2, chain 1, region of interest 1, sequence conflict 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVN3-F1 | 86.41 | 0.68 |
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 (2): 468, 473
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 137 (showing top):
GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, AGTCTTA_MIR499, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_FOLDING, BENPORATH_NOS_TARGETS, GOBP_SENSORY_PERCEPTION, ACTTTAT_MIR1425P, CCAGGGG_MIR331, ACEVEDO_LIVER_CANCER_UP, PARENT_MTOR_SIGNALING_UP, BENPORATH_OCT4_TARGETS, AACATTC_MIR4093P, GOMF_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY, CHEN_HOXA5_TARGETS_9HR_UP, GOMF_G_PROTEIN_ALPHA_SUBUNIT_BINDING
GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), sensory perception of smell (GO:0007608), regulation of G protein-coupled receptor signaling pathway (GO:0008277), protein folding (GO:0006457)
GO Molecular Function (3): G-protein alpha-subunit binding (GO:0001965), guanyl-nucleotide exchange factor activity (GO:0005085), protein folding chaperone (GO:0044183)
GO Cellular Component (5): cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), cell cortex (GO:0005938)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| cell periphery | 2 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| sensory perception of chemical stimulus | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| regulation of signal transduction | 1 |
| cellular process | 1 |
| protein maturation | 1 |
| protein binding | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| molecular_function | 1 |
| protein folding | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| membrane | 1 |
Protein interactions and networks
STRING
968 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RIC8B | SYN1 | P17600 | 872 |
| RIC8B | SYN3 | O14994 | 840 |
| RIC8B | SYN2 | Q92777 | 818 |
| RIC8B | RABIF | P47224 | 784 |
| RIC8B | TMTC1 | Q8IUR5 | 784 |
| RIC8B | GNAL | P38405 | 781 |
| RIC8B | GNAQ | P50148 | 711 |
| RIC8B | SLC32A1 | Q9H598 | 696 |
| RIC8B | SLC17A6 | Q9P2U8 | 696 |
| RIC8B | GNAI3 | P08754 | 694 |
| RIC8B | SUCLG1 | P53597 | 679 |
| RIC8B | RTP1 | P59025 | 665 |
| RIC8B | PVALB | P20472 | 623 |
| RIC8B | CAMK2A | Q9UQM7 | 622 |
| RIC8B | FOS | P01100 | 621 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TFDP3 | E2F3 | psi-mi:“MI:0914”(association) | 0.530 |
| TIGD5 | P4HA2 | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L1 | FNTB | psi-mi:“MI:0914”(association) | 0.530 |
| UBE2O | RPL23 | psi-mi:“MI:0914”(association) | 0.530 |
| NAP1L1 | H2AC11 | psi-mi:“MI:0914”(association) | 0.530 |
| GNAS | CPT2 | psi-mi:“MI:0914”(association) | 0.530 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| JAK3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP4R1L | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| LINC01587 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| OVOL2 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| OCIAD1 | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZHX1-C8orf76 | FANCG | psi-mi:“MI:0914”(association) | 0.350 |
| BORCS8 | TP73 | psi-mi:“MI:0914”(association) | 0.350 |
| AARSD1 | MAP3K7 | psi-mi:“MI:0914”(association) | 0.350 |
| CPNE9 | RAD21 | psi-mi:“MI:0914”(association) | 0.350 |
| GNAI2 | GNG7 | psi-mi:“MI:0914”(association) | 0.350 |
| RIC8B | GNAS | psi-mi:“MI:0914”(association) | 0.350 |
| MAGED2 | PTPN6 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP41 | ATP12A | psi-mi:“MI:0914”(association) | 0.350 |
| ABHD8 | RIC8B | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL34 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1C4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| UPP1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| NUBP2 | TK2 | psi-mi:“MI:0914”(association) | 0.350 |
| PPM1M | GAK | psi-mi:“MI:0914”(association) | 0.350 |
| VWA2 | RECQL4 | psi-mi:“MI:0914”(association) | 0.350 |
| MAGED2 | AMY1A | psi-mi:“MI:0914”(association) | 0.350 |
| PHETA2 | INPP5B | psi-mi:“MI:0914”(association) | 0.350 |
| MAGED2 | PJA2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (61): RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), RIC8B (Affinity Capture-MS), GNAS (Reconstituted Complex), GNAQ (Reconstituted Complex), RIC8B (Two-hybrid), RIC8B (Two-hybrid)
ESM2 similar proteins: A0A571BF63, A0JMA8, A1A535, A1A5P5, A4D1P6, A8XSV3, B0BF33, D3ZY60, E7F187, Q05B30, Q09263, Q14156, Q14738, Q14D04, Q19317, Q28653, Q2HJE1, Q2KI89, Q4R6I5, Q5JWR5, Q5PQS3, Q5R629, Q5SPP5, Q5U245, Q5XUN4, Q5ZLL7, Q61QK6, Q620W3, Q62240, Q641A2, Q68F70, Q6IV68, Q6ZQ18, Q7TMQ7, Q7Z3E5, Q80XE1, Q80Y84, Q80ZG0, Q8BG67, Q8BL99
Diamond homologs: Q29IC2, Q3TIR3, Q45TX8, Q4R720, Q5E9J8, Q5R8F5, Q5ZL77, Q61A92, Q642H7, Q6DRJ9, Q6P4W7, Q80XE1, Q80ZG0, Q80ZG1, Q9NPQ8, Q9NVN3, Q9W358, Q9GSX9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GNAL | “up-regulates activity” | RIC8B | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1914 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:106774826:CAAGG:C | donor_loss | 1.0000 |
| 12:106774827:AAG:A | donor_loss | 1.0000 |
| 12:106774828:AGG:A | donor_loss | 1.0000 |
| 12:106783996:GCATA:G | acceptor_gain | 1.0000 |
| 12:106805254:G:GG | donor_gain | 1.0000 |
| 12:106814690:TTTCA:T | acceptor_loss | 1.0000 |
| 12:106814692:TCAG:T | acceptor_loss | 1.0000 |
| 12:106814693:CAG:C | acceptor_loss | 1.0000 |
| 12:106814694:A:AG | acceptor_gain | 1.0000 |
| 12:106814694:AGAA:A | acceptor_loss | 1.0000 |
| 12:106814695:G:GG | acceptor_gain | 1.0000 |
| 12:106814695:G:GT | acceptor_loss | 1.0000 |
| 12:106814695:GA:G | acceptor_gain | 1.0000 |
| 12:106814695:GAA:G | acceptor_gain | 1.0000 |
| 12:106814695:GAAA:G | acceptor_gain | 1.0000 |
| 12:106842587:A:AG | acceptor_gain | 1.0000 |
| 12:106842588:G:GA | acceptor_gain | 1.0000 |
| 12:106842588:GC:G | acceptor_gain | 1.0000 |
| 12:106842588:GCAAT:G | acceptor_gain | 1.0000 |
| 12:106842714:C:G | donor_gain | 1.0000 |
| 12:106843850:AG:A | acceptor_gain | 1.0000 |
| 12:106843851:GG:G | acceptor_gain | 1.0000 |
| 12:106844192:G:GT | donor_gain | 1.0000 |
| 12:106844192:G:T | donor_gain | 1.0000 |
| 12:106851444:CATCA:C | acceptor_loss | 1.0000 |
| 12:106851446:TCAGG:T | acceptor_loss | 1.0000 |
| 12:106851447:CAGGT:C | acceptor_loss | 1.0000 |
| 12:106851448:AGG:A | acceptor_loss | 1.0000 |
| 12:106851590:GAGAG:G | donor_gain | 1.0000 |
| 12:106851592:GAG:G | donor_gain | 1.0000 |
AlphaMissense
3690 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:106815068:T:C | F169L | 1.000 |
| 12:106815070:C:A | F169L | 1.000 |
| 12:106815070:C:G | F169L | 1.000 |
| 12:106815266:T:C | F235L | 1.000 |
| 12:106815268:C:A | F235L | 1.000 |
| 12:106815268:C:G | F235L | 1.000 |
| 12:106851451:T:A | V388D | 1.000 |
| 12:106851483:C:T | P399S | 1.000 |
| 12:106851484:C:A | P399H | 1.000 |
| 12:106851492:G:C | G402R | 1.000 |
| 12:106851514:T:C | L409P | 1.000 |
| 12:106851517:T:A | V410E | 1.000 |
| 12:106851523:T:C | L412P | 1.000 |
| 12:106851571:T:C | L428P | 1.000 |
| 12:106851573:T:C | F429L | 1.000 |
| 12:106851574:T:C | F429S | 1.000 |
| 12:106851575:T:A | F429L | 1.000 |
| 12:106851575:T:G | F429L | 1.000 |
| 12:106851580:T:A | L431H | 1.000 |
| 12:106851580:T:C | L431P | 1.000 |
| 12:106851583:G:A | C432Y | 1.000 |
| 12:106851584:C:G | C432W | 1.000 |
| 12:106851586:A:T | K433I | 1.000 |
| 12:106860277:T:C | L439P | 1.000 |
| 12:106860291:G:C | G444R | 1.000 |
| 12:106860291:G:T | G444C | 1.000 |
| 12:106860292:G:A | G444D | 1.000 |
| 12:106860292:G:T | G444V | 1.000 |
| 12:106860297:G:A | G446R | 1.000 |
| 12:106860297:G:C | G446R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000023082 (12:106782702 C>G), RS1000030292 (12:106844869 A>G), RS1000061514 (12:106844460 A>G), RS1000087574 (12:106837459 A>G,T), RS1000088644 (12:106776719 G>C,T), RS1000116359 (12:106887012 A>G,T), RS1000125371 (12:106819828 C>T), RS1000128340 (12:106792480 C>A,T), RS1000129649 (12:106865386 A>G), RS1000183083 (12:106821388 C>T), RS1000189853 (12:106793126 T>C), RS1000195322 (12:106831199 A>T), RS1000214623 (12:106838107 A>G), RS1000251518 (12:106819512 G>A), RS1000270456 (12:106830757 C>T)
Disease associations
OMIM: gene MIM:609147 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
25 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002228_5 | Social autistic-like traits | 4.000000e-06 |
| GCST003123_28 | Severe influenza A (H1N1) infection | 3.000000e-09 |
| GCST003542_94 | Night sleep phenotypes | 5.000000e-06 |
| GCST004237_23 | Triglyceride levels | 2.000000e-07 |
| GCST005537_90 | Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) | 2.000000e-08 |
| GCST008839_66 | Height | 8.000000e-12 |
| GCST009152_6 | Triglyceride levels | 2.000000e-14 |
| GCST009723_49 | Vertical cup-disc ratio (adjusted for vertical disc diameter) | 9.000000e-12 |
| GCST009724_99 | Vertical cup-disc ratio (multi-trait analysis) | 8.000000e-15 |
| GCST010050_7 | Adiponectin levels | 1.000000e-07 |
| GCST010173_99 | Triglyceride levels | 3.000000e-10 |
| GCST010244_277 | Triglyceride levels | 5.000000e-16 |
| GCST010320_115 | PR interval | 1.000000e-15 |
| GCST010321_77 | PR interval | 5.000000e-17 |
| GCST010703_94 | Brain morphology (MOSTest) | 6.000000e-52 |
| GCST011353_15 | Serum alkaline phosphatase levels | 1.000000e-08 |
| GCST012227_554 | Hip circumference adjusted for BMI | 5.000000e-08 |
| GCST012227_555 | Hip circumference adjusted for BMI | 3.000000e-10 |
| GCST012227_556 | Hip circumference adjusted for BMI | 2.000000e-10 |
| GCST90000025_994 | Appendicular lean mass | 8.000000e-11 |
| GCST90011900_72 | Serum alkaline phosphatase levels | 6.000000e-18 |
| GCST90020025_100 | Waist-to-hip ratio adjusted for BMI | 4.000000e-08 |
| GCST90020025_98 | Waist-to-hip ratio adjusted for BMI | 1.000000e-09 |
| GCST90020027_1678 | Waist-hip index | 1.000000e-09 |
| GCST90020028_947 | Hip circumference adjusted for BMI | 3.000000e-09 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005426 | autism spectrum disorder symptom |
| EFO:1001488 | influenza A (H1N1) |
| EFO:0004530 | triglyceride measurement |
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0004502 | adiponectin measurement |
| EFO:0004462 | PR interval |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004533 | alkaline phosphatase measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004980 | appendicular lean mass |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 3 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | increases methylation | 1 |
| titanium dioxide | increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| methacrylaldehyde | increases oxidation, increases abundance, affects cotreatment | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | increases abundance, increases oxidation, affects cotreatment | 1 |
| Arsenic | increases abundance, affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Folic Acid | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methapyrilene | decreases methylation | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases 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.