RANBP10
gene geneOn this page
Also known as KIAA1464
Summary
RANBP10 (RAN binding protein 10, HGNC:29285) is a protein-coding gene on chromosome 16q22, encoding Ran-binding protein 10 (Q6VN20). May act as an adapter protein to couple membrane receptors to intracellular signaling pathways.
RAN is a small GTPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this gene is a cytoplasmic guanine nucleotide exchange factor (GEF) that binds beta-tubulin and has GEF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the regulation of D(1) receptor signaling by protein kinase C delta and protein kinase C gamma. Several transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 57610 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 102 total
- MANE Select transcript:
NM_020850
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29285 |
| Approved symbol | RANBP10 |
| Name | RAN binding protein 10 |
| Location | 16q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1464 |
| Ensembl gene | ENSG00000141084 |
| Ensembl biotype | protein_coding |
| OMIM | 614031 |
| Entrez | 57610 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 11 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000317506, ENST00000448631, ENST00000602506, ENST00000602525, ENST00000602638, ENST00000602677, ENST00000602815, ENST00000602887, ENST00000863257, ENST00000863258, ENST00000863259, ENST00000863260, ENST00000924472, ENST00000924473, ENST00000924474, ENST00000942173
RefSeq mRNA: 5 — MANE Select: NM_020850
NM_001320238, NM_001320239, NM_001320240, NM_001410883, NM_020850
CCDS: CCDS32469, CCDS81999, CCDS92180
Canonical transcript exons
ENST00000317506 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001237518 | 67723070 | 67726558 |
| ENSE00003464616 | 67772034 | 67772086 |
| ENSE00003489885 | 67727751 | 67727896 |
| ENSE00003522981 | 67729280 | 67729484 |
| ENSE00003526416 | 67728390 | 67728511 |
| ENSE00003553740 | 67729680 | 67729828 |
| ENSE00003555135 | 67729938 | 67730046 |
| ENSE00003573229 | 67738013 | 67738035 |
| ENSE00003616976 | 67806302 | 67806560 |
| ENSE00003626856 | 67744288 | 67744455 |
| ENSE00003641341 | 67734858 | 67735042 |
| ENSE00003645796 | 67731472 | 67731584 |
| ENSE00003677989 | 67805428 | 67805539 |
| ENSE00003682881 | 67727327 | 67727438 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 92.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.5842 / max 799.2251, expressed in 1818 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157818 | 32.8291 | 1818 |
| 157817 | 1.7551 | 114 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 92.50 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.54 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.33 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.20 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.06 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.64 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.47 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.45 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.45 | gold quality |
| adrenal cortex | UBERON:0001235 | 88.87 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.50 | gold quality |
| cerebellum | UBERON:0002037 | 88.02 | gold quality |
| adrenal gland | UBERON:0002369 | 87.89 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 87.86 | gold quality |
| muscle of leg | UBERON:0001383 | 87.59 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 86.93 | gold quality |
| left ovary | UBERON:0002119 | 85.65 | gold quality |
| body of uterus | UBERON:0009853 | 85.29 | gold quality |
| blood | UBERON:0000178 | 85.21 | gold quality |
| ectocervix | UBERON:0012249 | 85.19 | gold quality |
| right ovary | UBERON:0002118 | 85.12 | gold quality |
| endocervix | UBERON:0000458 | 84.87 | gold quality |
| skin of leg | UBERON:0001511 | 84.79 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 84.61 | gold quality |
| skin of abdomen | UBERON:0001416 | 84.55 | gold quality |
| metanephros cortex | UBERON:0010533 | 84.46 | gold quality |
| body of pancreas | UBERON:0001150 | 84.42 | gold quality |
| granulocyte | CL:0000094 | 84.40 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 84.03 | silver quality |
| pancreatic ductal cell | CL:0002079 | 83.97 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.67 |
| E-GEOD-100618 | no | 243.26 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): YY1
miRNA regulators (miRDB)
149 targeting RANBP10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
Literature-anchored findings (GeneRIF, showing 6)
- RanBP10 might serve as a molecular link between Ran and noncentrosomal microtubules (PMID:18347012)
- data support the idea that RanBP9 and RanBP10 may function as signaling integrators and dictate the efficient regulation of D(1) receptor signaling by PKCdelta and PKCgamma (PMID:20395553)
- The results showed that ICP0 interacted with cell protein RanBP10, a known transcriptional coactivator, in human herpesvirus 1-infected cells. (PMID:26739050)
- Authors provide evidence that enhancement of neuronal morphology through RANBP10 is one of the neuroprotective mechanisms for miR-196a. (PMID:28744327)
- A Ran-binding protein facilitates nuclear import of human papillomavirus type 16. (PMID:33974675)
- RANBP10 promotes glioblastoma progression by regulating the FBXW7/c-Myc pathway. (PMID:34671019)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ranbp10 | ENSDARG00000062138 |
| mus_musculus | Ranbp10 | ENSMUSG00000037415 |
| rattus_norvegicus | Ranbp10 | ENSRNOG00000018000 |
| drosophila_melanogaster | RanBPM | FBGN0262114 |
Paralogs (3): RANBP9 (ENSG00000010017), GID8 (ENSG00000101193), SPRYD3 (ENSG00000167778)
Protein
Protein identifiers
Ran-binding protein 10 — Q6VN20 (reviewed: Q6VN20)
All UniProt accessions (5): Q6VN20, R4GMX7, R4GMX8, R4GN91, R4GNA3
UniProt curated annotations — full annotation on UniProt →
Function. May act as an adapter protein to couple membrane receptors to intracellular signaling pathways. Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation. Acts as a guanine nucleotide exchange factor (GEF) for RAN GTPase. May play an essential role in hemostasis and in maintaining microtubule dynamics with respect to both platelet shape and function.
Subunit / interactions. May form homodimers. Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles. Interacts with RAN and RANBP9. Interacts with the HGF receptor MET. Interacts with AR. Interacts with TUBB1. Interacts with YPEL5. May interact with TUBB5. Interacts with DDX4.
Subcellular location. Cytoplasm. Cytosol. Nucleus.
Tissue specificity. Broadly expressed, with highest levels in skeletal muscle.
Domain organisation. The SPRY domain mediates the interaction with MET.
Similarity. Belongs to the RANBP9/10 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6VN20-1 | 1 | yes |
| Q6VN20-2 | 2 | |
| Q6VN20-3 | 3 |
RefSeq proteins (5): NP_001307167, NP_001307168, NP_001307169, NP_001397812, NP_065901* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001870 | B30.2/SPRY | Domain |
| IPR003877 | SPRY_dom | Domain |
| IPR006594 | LisH | Conserved_site |
| IPR006595 | CTLH_C | Domain |
| IPR013144 | CRA_dom | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR024964 | CTLH/CRA | Domain |
| IPR035782 | SPRY_RanBP9/10 | Domain |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
| IPR050618 | Ubq-SigPath_Reg | Family |
Pfam: PF00622, PF08513, PF10607
UniProt features (24 total): modified residue 9, splice variant 3, domain 3, compositionally biased region 3, sequence conflict 2, region of interest 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6VN20-F1 | 78.14 | 0.60 |
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 (9): 2, 361, 362, 365, 367, 369, 422, 451, 453
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8851805 | MET activates RAS signaling |
MSigDB gene sets: 245 (showing top):
CREL_01, ACTACCT_MIR196A_MIR196B, chr16q22, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, AACYNNNNTTCCS_UNKNOWN, TGACCTY_ERR1_Q2, FOXO4_01, GOMF_GTPASE_BINDING, GGAMTNNNNNTCCY_UNKNOWN, SP1_Q2_01, GNF2_ANK1, GTGCCTT_MIR506, NFKB_C, GNF2_SPTA1, FONTAINE_PAPILLARY_THYROID_CARCINOMA_DN
GO Biological Process (2): microtubule cytoskeleton organization (GO:0000226), cytoskeleton organization (GO:0007010)
GO Molecular Function (4): guanyl-nucleotide exchange factor activity (GO:0005085), small GTPase binding (GO:0031267), beta-tubulin binding (GO:0048487), protein binding (GO:0005515)
GO Cellular Component (5): ubiquitin ligase complex (GO:0000151), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by MET | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| organelle organization | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| GTPase binding | 1 |
| tubulin binding | 1 |
| binding | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
1234 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RANBP10 | MKLN1 | Q9UL63 | 843 |
| RANBP10 | YPEL5 | P62699 | 839 |
| RANBP10 | GID4 | Q8IVV7 | 812 |
| RANBP10 | ARMC8 | Q8IUR7 | 804 |
| RANBP10 | WDR26 | Q9H7D7 | 783 |
| RANBP10 | RMND5A | Q9H871 | 731 |
| RANBP10 | GID8 | Q9NWU2 | 727 |
| RANBP10 | RMND5B | Q96G75 | 716 |
| RANBP10 | MAEA | Q7L5Y9 | 707 |
| RANBP10 | TUBB | P05218 | 610 |
| RANBP10 | RANBP3 | Q9H6Z4 | 525 |
| RANBP10 | UBE2H | P37286 | 444 |
| RANBP10 | RANBP1 | P43487 | 444 |
| RANBP10 | RAB40AL | P0C0E4 | 431 |
| RANBP10 | NACC1 | Q96RE7 | 429 |
| RANBP10 | LRIF1 | Q5T3J3 | 429 |
IntAct
176 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARMC8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.750 |
| CCDC120 | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| CRIPTO | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFS6 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| RANBP10 | MAEA | psi-mi:“MI:0914”(association) | 0.640 |
| PRG2 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| INAVA | CYTH3 | psi-mi:“MI:0914”(association) | 0.640 |
| GID8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.610 |
| MAGEA11 | RANBP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTAG1A | RANBP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IGFBP6 | RANBP10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| INSL6 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| PRG3 | ZNF324 | psi-mi:“MI:0914”(association) | 0.530 |
| PIGT | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | SIAH2 | psi-mi:“MI:0914”(association) | 0.530 |
| BMP1 | TLL1 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL38 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| NME1 | NME2P1 | psi-mi:“MI:0914”(association) | 0.530 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| TIGD5 | P4HA2 | psi-mi:“MI:0914”(association) | 0.530 |
| EMILIN3 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (177): RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Co-fractionation), WDR26 (Co-fractionation), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS)
ESM2 similar proteins: A0JMA8, A1A5P5, A1L252, A1YVX4, A3KMI0, A3KMV8, A6H8H2, F4HYD7, F4HYJ7, O73630, O94712, P29375, P41229, P41230, P69566, Q04861, Q1LUS8, Q28FM1, Q30DN6, Q32SG6, Q38JA7, Q3B8D5, Q3UXZ9, Q4R8E0, Q5F3R2, Q5U245, Q5VZ89, Q5XUN4, Q62240, Q63185, Q6IQX0, Q6P158, Q6P5D3, Q6VN19, Q6VN20, Q7Z3E5, Q7Z401, Q80Y84, Q94545, Q96S59
Diamond homologs: A1CNW8, A1D1S7, A1L252, A3KMV8, A6S3E0, A6ZZJ6, A7EQ00, A7TE03, O74497, O94712, P18160, P32343, P69566, Q03212, Q1E2D2, Q1LUS8, Q28FM1, Q4WRW0, Q4Z8K6, Q5RBR6, Q6BSU1, Q6FJG2, Q6VN19, Q6VN20, Q8NCJ5, Q96S59, Q96UB6, Q9PTY5, A0A5F9C6I2, D3ZXK7, F4HYD7, P53076, Q19614, Q54X16, Q5XPI3, Q5XPI4, Q84WK5, Q9C8J7, Q9SIZ8, Q5XH91
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 167 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 |
|---|---|---|---|
| Regulation of pyruvate metabolism | 10 | 50.1× | 8e-13 |
| Pyruvate metabolism | 5 | 17.9× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 13 | 4.6× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
102 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3039 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:67727742:AT:A | donor_gain | 1.0000 |
| 16:67727743:T:TA | donor_gain | 1.0000 |
| 16:67727745:CTGTA:C | donor_loss | 1.0000 |
| 16:67727746:TGTA:T | donor_loss | 1.0000 |
| 16:67727747:GTAC:G | donor_loss | 1.0000 |
| 16:67727748:TA:T | donor_loss | 1.0000 |
| 16:67727749:A:AG | donor_loss | 1.0000 |
| 16:67727750:CCT:C | donor_loss | 1.0000 |
| 16:67727789:C:CA | donor_gain | 1.0000 |
| 16:67727809:AATG:A | donor_gain | 1.0000 |
| 16:67727904:C:CT | acceptor_gain | 1.0000 |
| 16:67727911:C:T | acceptor_gain | 1.0000 |
| 16:67728385:CTCAC:C | donor_loss | 1.0000 |
| 16:67728386:TCA:T | donor_loss | 1.0000 |
| 16:67728387:CA:C | donor_loss | 1.0000 |
| 16:67728388:AC:A | donor_gain | 1.0000 |
| 16:67728389:CC:C | donor_gain | 1.0000 |
| 16:67728389:CCCA:C | donor_loss | 1.0000 |
| 16:67728403:AT:A | donor_gain | 1.0000 |
| 16:67728510:CG:C | acceptor_gain | 1.0000 |
| 16:67728512:C:CC | acceptor_gain | 1.0000 |
| 16:67729483:TCCTA:T | acceptor_loss | 1.0000 |
| 16:67729484:CCTAG:C | acceptor_loss | 1.0000 |
| 16:67729748:T:TA | donor_gain | 1.0000 |
| 16:67729826:CAC:C | acceptor_gain | 1.0000 |
| 16:67729827:ACCT:A | acceptor_loss | 1.0000 |
| 16:67729829:C:CC | acceptor_gain | 1.0000 |
| 16:67729829:CTGT:C | acceptor_loss | 1.0000 |
| 16:67729830:T:A | acceptor_loss | 1.0000 |
| 16:67729934:TTAC:T | donor_loss | 1.0000 |
AlphaMissense
4082 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:67727344:A:G | L572P | 1.000 |
| 16:67727425:A:G | L545P | 1.000 |
| 16:67729817:A:G | F337S | 1.000 |
| 16:67729941:A:G | L332P | 1.000 |
| 16:67731476:T:A | R295S | 1.000 |
| 16:67731476:T:G | R295S | 1.000 |
| 16:67731567:A:G | L265P | 1.000 |
| 16:67734968:G:C | F222L | 1.000 |
| 16:67734968:G:T | F222L | 1.000 |
| 16:67734969:A:G | F222S | 1.000 |
| 16:67734970:A:C | F222V | 1.000 |
| 16:67734970:A:G | F222L | 1.000 |
| 16:67734970:A:T | F222I | 1.000 |
| 16:67734981:C:A | G218V | 1.000 |
| 16:67734981:C:T | G218E | 1.000 |
| 16:67734983:A:C | F217L | 1.000 |
| 16:67734983:A:T | F217L | 1.000 |
| 16:67734984:A:C | F217C | 1.000 |
| 16:67734984:A:G | F217S | 1.000 |
| 16:67734985:A:G | F217L | 1.000 |
| 16:67734986:G:C | N216K | 1.000 |
| 16:67734986:G:T | N216K | 1.000 |
| 16:67735002:T:A | E211V | 1.000 |
| 16:67735003:C:T | E211K | 1.000 |
| 16:67735011:G:A | T208I | 1.000 |
| 16:67735013:C:A | Q207H | 1.000 |
| 16:67735013:C:G | Q207H | 1.000 |
| 16:67735014:T:G | Q207P | 1.000 |
| 16:67735017:A:G | L206P | 1.000 |
| 16:67735017:A:T | L206Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004764 (16:67736109 C>T), RS1000013726 (16:67769897 C>T), RS1000051477 (16:67805252 G>C), RS1000061138 (16:67767581 G>A), RS1000063364 (16:67799125 G>A), RS1000071685 (16:67749060 C>T), RS1000087109 (16:67732615 A>G), RS1000103529 (16:67804846 T>A,G), RS1000118081 (16:67745615 G>A), RS1000139784 (16:67732914 C>T), RS1000222238 (16:67785450 C>T), RS1000239122 (16:67779502 T>A), RS1000250912 (16:67794368 C>T), RS1000259981 (16:67725487 A>G), RS1000278167 (16:67729799 C>G)
Disease associations
OMIM: gene MIM:614031 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_84 | Schizophrenia | 2.000000e-08 |
| GCST002899_33 | HDL cholesterol | 9.000000e-26 |
| GCST004604_73 | Hematocrit | 4.000000e-11 |
| GCST004615_105 | Hemoglobin concentration | 2.000000e-11 |
| GCST005751_4 | Empathy quotient | 9.000000e-07 |
| GCST006803_42 | Schizophrenia | 4.000000e-08 |
| GCST010002_113 | Refractive error | 2.000000e-14 |
| GCST90002383_245 | Hematocrit | 3.000000e-27 |
| GCST90020029_574 | Waist circumference adjusted for body mass index | 2.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0009183 | empathy measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| cobaltous chloride | increases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | affects expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | decreases 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_B2DC | Abcam HeLa RANBP10 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.