ARL10
gene geneOn this page
Summary
ARL10 (ARF like GTPase 10, HGNC:22042) is a protein-coding gene on chromosome 5q35.2, encoding ADP-ribosylation factor-like protein 10 (Q8N8L6).
Predicted to enable GTP binding activity and GTPase activity. Located in mitochondrion.
Source: NCBI Gene 285598 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 136 total — 23 pathogenic
- MANE Select transcript:
NM_173664
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22042 |
| Approved symbol | ARL10 |
| Name | ARF like GTPase 10 |
| Location | 5q35.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000175414 |
| Ensembl biotype | protein_coding |
| Entrez | 285598 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000310389, ENST00000503175, ENST00000507151, ENST00000514533, ENST00000881660
RefSeq mRNA: 2 — MANE Select: NM_173664
NM_001317948, NM_173664
CCDS: CCDS4400
Canonical transcript exons
ENST00000310389 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001196718 | 176366380 | 176366581 |
| ENSE00001196723 | 176368807 | 176368982 |
| ENSE00001321177 | 176371722 | 176381909 |
| ENSE00001321430 | 176365487 | 176365746 |
Expression profiles
Bgee: expression breadth ubiquitous, 240 present calls, max score 90.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.6091 / max 114.5697, expressed in 1374 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 60402 | 4.6091 | 1374 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 90.88 | gold quality |
| endothelial cell | CL:0000115 | 90.45 | gold quality |
| cortical plate | UBERON:0005343 | 90.30 | gold quality |
| oviduct epithelium | UBERON:0004804 | 88.91 | gold quality |
| entorhinal cortex | UBERON:0002728 | 86.20 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 85.38 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 85.06 | gold quality |
| cartilage tissue | UBERON:0002418 | 84.91 | gold quality |
| ganglionic eminence | UBERON:0004023 | 84.60 | gold quality |
| embryo | UBERON:0000922 | 84.59 | gold quality |
| tibia | UBERON:0000979 | 83.65 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 83.19 | gold quality |
| ventricular zone | UBERON:0003053 | 82.97 | gold quality |
| primary visual cortex | UBERON:0002436 | 82.52 | gold quality |
| postcentral gyrus | UBERON:0002581 | 81.55 | gold quality |
| upper leg skin | UBERON:0004262 | 81.00 | gold quality |
| stromal cell of endometrium | CL:0002255 | 80.47 | gold quality |
| skin of hip | UBERON:0001554 | 80.30 | gold quality |
| vagina | UBERON:0000996 | 80.08 | gold quality |
| skin of leg | UBERON:0001511 | 80.02 | gold quality |
| parietal lobe | UBERON:0001872 | 79.95 | gold quality |
| ovary | UBERON:0000992 | 79.69 | gold quality |
| skin of abdomen | UBERON:0001416 | 79.67 | gold quality |
| occipital lobe | UBERON:0002021 | 79.66 | gold quality |
| left ovary | UBERON:0002119 | 79.40 | gold quality |
| mucosa of stomach | UBERON:0001199 | 79.28 | gold quality |
| temporal lobe | UBERON:0001871 | 79.13 | gold quality |
| right ovary | UBERON:0002118 | 79.03 | gold quality |
| zone of skin | UBERON:0000014 | 78.95 | gold quality |
| cerebral cortex | UBERON:0000956 | 78.85 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 1181.09 |
| E-ANND-3 | no | 5.72 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
66 targeting ARL10, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| 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-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arl10 | ENSDARG00000117130 |
| mus_musculus | Arl10 | ENSMUSG00000025870 |
| rattus_norvegicus | Arl10 | ENSRNOG00000045948 |
Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARF1 (ENSG00000143761), ARL8A (ENSG00000143862), ARL11 (ENSG00000152213), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL17A (ENSG00000185829), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)
Protein
Protein identifiers
ADP-ribosylation factor-like protein 10 — Q8N8L6 (reviewed: Q8N8L6)
All UniProt accessions (3): Q8N8L6, H0Y8L6, H0Y9R6
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the small GTPase superfamily. Arf family.
RefSeq proteins (2): NP_001304877, NP_775935* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006689 | Small_GTPase_ARF/SAR | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR042951 | ARL10 | Family |
Pfam: PF00025
UniProt features (4 total): binding site 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8L6-F1 | 77.10 | 0.50 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 84–91; 128–132; 185–188
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 68 (showing top):
BENPORATH_ES_WITH_H3K27ME3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, MARSON_BOUND_BY_FOXP3_STIMULATED, GOMF_GTPASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, SENGUPTA_EBNA1_ANTICORRELATED, YOSHIMURA_MAPK8_TARGETS_DN, LIU_PROSTATE_CANCER_DN, KUMAR_PATHOGEN_LOAD_BY_MACROPHAGES, GSE13522_WT_VS_IFNG_KO_SKING_T_CRUZI_Y_STRAIN_INF_UP, GSE13522_CTRL_VS_T_CRUZI_G_STRAIN_INF_SKIN_UP, MIR9983_3P, MIR129_5P, MIR3978, MIR4700_5P
GO Biological Process (0):
GO Molecular Function (3): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166)
GO Cellular Component (1): mitochondrion (GO:0005739)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1399 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL10 | RASL11A | Q6T310 | 867 |
| ARL10 | ARL16 | Q0P5N6 | 645 |
| ARL10 | F8VZ95 | F8VZ95 | 608 |
| ARL10 | NOP16 | Q9Y3C1 | 607 |
| ARL10 | ARL13A | Q5H913 | 548 |
| ARL10 | HIGD2A | Q9BW72 | 544 |
| ARL10 | GOLGA6L7 | A0A1B0GV03 | 478 |
| ARL10 | LRRC72 | A6NJI9 | 447 |
| ARL10 | CCDC32 | Q9BV29 | 447 |
| ARL10 | CDKN2A | P42771 | 442 |
| ARL10 | TMED6 | Q8WW62 | 391 |
| ARL10 | GPRIN1 | Q7Z2K8 | 381 |
| ARL10 | RNF44 | Q7L0R7 | 376 |
| ARL10 | TMEM248 | Q9NWD8 | 368 |
| ARL10 | IQUB | Q8NA54 | 365 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARL4C | RGS12 | psi-mi:“MI:0914”(association) | 0.640 |
| HEY2 | ARL10 | psi-mi:“MI:0914”(association) | 0.640 |
| CERS2 | ATP5F1B | psi-mi:“MI:0914”(association) | 0.640 |
| CHST8 | CANX | psi-mi:“MI:0914”(association) | 0.640 |
| SLC39A5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| HTR2C | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63A | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| PTGER3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.530 |
| PARD6B | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| P2RX1 | ATE1 | psi-mi:“MI:0914”(association) | 0.530 |
| CD226 | MEN1 | psi-mi:“MI:0914”(association) | 0.530 |
| NHLH2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| VTI1B | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| S1PR1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CHRM3 | psi-mi:“MI:0914”(association) | 0.350 | |
| P2RY12 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (221): ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS), ARL10 (Affinity Capture-MS)
ESM2 similar proteins: A2AA28, A4FV42, A4FV98, A6NDG6, D3YWP0, D3ZVU9, O15315, O35719, O70277, O75382, O94759, P21964, P57775, P81799, Q2TBS1, Q3UGX3, Q4R3I0, Q5E9V4, Q5H879, Q5RJL2, Q5SUV1, Q6DC64, Q7Z624, Q86WI3, Q86XA0, Q8BNV1, Q8C436, Q8CIW5, Q8IZ69, Q8N8L6, Q8N9F0, Q8VCX6, Q8WXB1, Q96AZ1, Q96FB5, Q96RR1, Q9BQD7, Q9BRQ3, Q9BUU2, Q9CQL0
Diamond homologs: A3LTA2, A5DR82, A5E5G3, A8INQ0, O45379, P26990, P34212, P36406, P36407, P36536, P40617, P40946, P49703, P51645, P61209, P61210, P61213, P61214, P62330, P62331, P62332, Q007T5, Q01475, Q02804, Q0IIM2, Q0VC18, Q18510, Q3SXC5, Q3SXY8, Q3T0D7, Q3T0M9, Q3T0T7, Q4P0I7, Q52NJ3, Q54HK2, Q54JJ3, Q54V41, Q559R0, Q59S78, Q5BK71
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 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 |
|---|---|---|---|
| Class A/1 (Rhodopsin-like receptors) | 10 | 9.0× | 8e-05 |
| GPCR ligand binding | 10 | 7.8× | 2e-04 |
| G alpha (q) signalling events | 9 | 6.3× | 1e-03 |
| Signaling by GPCR | 11 | 5.4× | 8e-04 |
| GPCR downstream signalling | 10 | 5.3× | 2e-03 |
| G alpha (i) signalling events | 10 | 4.8× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | 6 | 19.3× | 6e-04 |
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | 6 | 13.5× | 2e-03 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 7 | 9.5× | 2e-03 |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | 7 | 8.2× | 4e-03 |
| G protein-coupled receptor signaling pathway | 11 | 4.1× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
136 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 23 |
| Likely pathogenic | 0 |
| Uncertain significance | 94 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (23)
| Variant ID | HGVS | Classification |
|---|---|---|
| 153772 | GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 | Pathogenic |
| 154297 | GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 | Pathogenic |
| 154443 | GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 | Pathogenic |
| 154580 | GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3 | Pathogenic |
| 2671584 | Single allele | Pathogenic |
| 2685184 | GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1 | Pathogenic |
| 2685186 | GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1 | Pathogenic |
| 3242320 | GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1 | Pathogenic |
| 394090 | GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 | Pathogenic |
| 442010 | GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 | Pathogenic |
| 443249 | GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 | Pathogenic |
| 443960 | GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 | Pathogenic |
| 4819308 | GRCh37/hg19 5q35.2-35.3(chr5:175416095-177250474)x3 | Pathogenic |
| 4820243 | Single allele | Pathogenic |
| 563125 | GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 | Pathogenic |
| 563126 | GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 | Pathogenic |
| 58122 | GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 | Pathogenic |
| 59300 | GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 | Pathogenic |
| 59301 | GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 | Pathogenic |
| 59303 | GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 | Pathogenic |
| 59634 | GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 | Pathogenic |
| 685440 | GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 | Pathogenic |
| 975831 | GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 | Pathogenic |
SpliceAI
2526 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:176365742:GGGAC:G | donor_gain | 1.0000 |
| 5:176365743:GGACG:G | donor_gain | 1.0000 |
| 5:176365747:G:GG | donor_gain | 1.0000 |
| 5:176366557:GACTT:G | donor_gain | 1.0000 |
| 5:176366578:GAAA:G | donor_gain | 1.0000 |
| 5:176366579:A:T | donor_gain | 1.0000 |
| 5:176366581:AG:A | donor_loss | 1.0000 |
| 5:176366582:G:GG | donor_gain | 1.0000 |
| 5:176366647:G:GT | donor_gain | 1.0000 |
| 5:176366647:G:T | donor_gain | 1.0000 |
| 5:176368805:AGTT:A | acceptor_gain | 1.0000 |
| 5:176368806:GTTG:G | acceptor_gain | 1.0000 |
| 5:176368979:GCAG:G | donor_gain | 1.0000 |
| 5:176368980:CAG:C | donor_loss | 1.0000 |
| 5:176368981:AGGTG:A | donor_loss | 1.0000 |
| 5:176368983:G:A | donor_loss | 1.0000 |
| 5:176384371:TGGC:T | acceptor_gain | 1.0000 |
| 5:176384374:CCTA:C | acceptor_loss | 1.0000 |
| 5:176384375:C:CC | acceptor_gain | 1.0000 |
| 5:176384375:CTA:C | acceptor_loss | 1.0000 |
| 5:176385215:GCTCA:G | donor_loss | 1.0000 |
| 5:176385217:TCAC:T | donor_loss | 1.0000 |
| 5:176385220:C:G | donor_loss | 1.0000 |
| 5:176385323:CAGGT:C | acceptor_gain | 1.0000 |
| 5:176385324:AGGT:A | acceptor_gain | 1.0000 |
| 5:176385325:GGT:G | acceptor_gain | 1.0000 |
| 5:176385326:GT:G | acceptor_gain | 1.0000 |
| 5:176385328:C:CA | acceptor_loss | 1.0000 |
| 5:176385328:C:CC | acceptor_gain | 1.0000 |
| 5:176385333:G:C | acceptor_gain | 1.0000 |
AlphaMissense
1557 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:176368963:T:A | V181D | 0.999 |
| 5:176368979:G:C | K186N | 0.999 |
| 5:176368979:G:T | K186N | 0.999 |
| 5:176365624:G:C | G21R | 0.998 |
| 5:176365625:G:A | G21D | 0.998 |
| 5:176366467:A:C | S91R | 0.998 |
| 5:176366469:C:A | S91R | 0.998 |
| 5:176366469:C:G | S91R | 0.998 |
| 5:176366530:T:C | F112L | 0.998 |
| 5:176366532:C:A | F112L | 0.998 |
| 5:176366532:C:G | F112L | 0.998 |
| 5:176366573:T:C | L126P | 0.998 |
| 5:176368836:T:A | W139R | 0.998 |
| 5:176368836:T:C | W139R | 0.998 |
| 5:176368838:G:C | W139C | 0.998 |
| 5:176368838:G:T | W139C | 0.998 |
| 5:176368845:T:C | F142L | 0.998 |
| 5:176368847:T:A | F142L | 0.998 |
| 5:176368847:T:G | F142L | 0.998 |
| 5:176368924:T:C | L168P | 0.998 |
| 5:176368978:A:C | K186T | 0.998 |
| 5:176366446:G:A | G84R | 0.997 |
| 5:176366446:G:C | G84R | 0.997 |
| 5:176366447:G:A | G84E | 0.997 |
| 5:176366465:A:T | K90M | 0.997 |
| 5:176366466:G:C | K90N | 0.997 |
| 5:176366466:G:T | K90N | 0.997 |
| 5:176366468:G:T | S91I | 0.997 |
| 5:176366531:T:C | F112S | 0.997 |
| 5:176368810:G:A | G130E | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000027940 (5:176400004 C>G,T), RS1000043248 (5:176391571 C>G), RS1000108407 (5:176384619 T>G), RS1000162708 (5:176405779 C>T), RS1000189102 (5:176365469 G>A,C), RS1000214507 (5:176405976 C>G,T), RS1000330484 (5:176371578 G>A,T), RS1000398498 (5:176372303 G>A), RS1000459344 (5:176389670 T>C), RS1000769236 (5:176383421 A>G), RS1000807544 (5:176395295 A>C), RS1000856645 (5:176395512 C>T), RS1000930936 (5:176376641 A>T), RS1001048582 (5:176401635 G>A), RS1001049709 (5:176377593 T>A)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:117550
GenCC curated gene-disease
Mondo (1): Sotos syndrome (MONDO:0019349)
Orphanet (1): Sotos syndrome (Orphanet:821)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D058495 | Sotos Syndrome | C16.131.077.889; C16.131.260.905; C16.320.180.905 |
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 |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Valproic Acid | increases methylation, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| nickel sulfate | 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 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Oxygen | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Testosterone | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04993235 | Not specified | UNKNOWN | Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Sotos syndrome