RASEF
gene geneOn this page
Also known as FLJ31614TSG
Summary
RASEF (RAS and EF-hand domain containing, HGNC:26464) is a protein-coding gene on chromosome 9q21.32, encoding Ras and EF-hand domain-containing protein (Q8IZ41). Rab GTPase that acts as a dynein adapter protein, thereby activating dynein-mediated transport and dynein-dynactin motility on microtubules.
This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene.
Source: NCBI Gene 158158 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 151 total
- MANE Select transcript:
NM_152573
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26464 |
| Approved symbol | RASEF |
| Name | RAS and EF-hand domain containing |
| Location | 9q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ31614, TSG |
| Ensembl gene | ENSG00000165105 |
| Ensembl biotype | protein_coding |
| OMIM | 611344 |
| Entrez | 158158 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000340717, ENST00000376447, ENST00000873431, ENST00000873432, ENST00000873433, ENST00000873434, ENST00000928035
RefSeq mRNA: 1 — MANE Select: NM_152573
NM_152573
CCDS: CCDS6662
Canonical transcript exons
ENST00000376447 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001090422 | 83012434 | 83012511 |
| ENSE00001090425 | 83015805 | 83015900 |
| ENSE00001090428 | 83022336 | 83022426 |
| ENSE00001090432 | 83009641 | 83009756 |
| ENSE00001293362 | 83007437 | 83007505 |
| ENSE00001294194 | 83000896 | 83001130 |
| ENSE00001295835 | 82979590 | 82982782 |
| ENSE00001298797 | 83000169 | 83000316 |
| ENSE00001299807 | 82992906 | 82993025 |
| ENSE00001307793 | 83025775 | 83025921 |
| ENSE00001308048 | 83005416 | 83005500 |
| ENSE00001313770 | 83000433 | 83000570 |
| ENSE00001317027 | 82990391 | 82990467 |
| ENSE00001321082 | 82997012 | 82997126 |
| ENSE00001328763 | 83004498 | 83004586 |
| ENSE00001383554 | 82998365 | 82998446 |
| ENSE00001391250 | 83062437 | 83063142 |
Expression profiles
Bgee: expression breadth ubiquitous, 182 present calls, max score 98.03.
FANTOM5 (CAGE): breadth broad, TPM avg 2.0821 / max 100.1381, expressed in 427 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101128 | 1.2907 | 329 |
| 101127 | 0.3472 | 161 |
| 101125 | 0.1930 | 123 |
| 205534 | 0.1578 | 85 |
| 101126 | 0.0936 | 50 |
Top tissues by expression
242 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 98.03 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.63 | gold quality |
| sperm | CL:0000019 | 93.48 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.72 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.65 | gold quality |
| oviduct epithelium | UBERON:0004804 | 90.48 | gold quality |
| pancreatic ductal cell | CL:0002079 | 90.42 | gold quality |
| caput epididymis | UBERON:0004358 | 90.07 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 89.16 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 88.90 | gold quality |
| secondary oocyte | CL:0000655 | 88.82 | gold quality |
| bronchial epithelial cell | CL:0002328 | 88.74 | gold quality |
| bronchus | UBERON:0002185 | 88.59 | gold quality |
| body of pancreas | UBERON:0001150 | 88.45 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 87.94 | gold quality |
| trachea | UBERON:0003126 | 87.39 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 87.36 | gold quality |
| amniotic fluid | UBERON:0000173 | 87.17 | gold quality |
| corpus epididymis | UBERON:0004359 | 86.64 | gold quality |
| pancreas | UBERON:0001264 | 86.54 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 85.23 | gold quality |
| rectum | UBERON:0001052 | 85.00 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.10 | gold quality |
| parotid gland | UBERON:0001831 | 83.92 | gold quality |
| oocyte | CL:0000023 | 83.86 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 83.59 | gold quality |
| pylorus | UBERON:0001166 | 83.57 | gold quality |
| islet of Langerhans | UBERON:0000006 | 83.36 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 83.26 | gold quality |
| mammary duct | UBERON:0001765 | 83.12 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10018 | yes | 1105.93 |
| E-ANND-3 | yes | 13.09 |
| E-MTAB-7249 | yes | 11.13 |
| E-MTAB-4850 | no | 5.38 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
155 targeting RASEF, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| 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 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| 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 |
Literature-anchored findings (GeneRIF, showing 3)
- Homozygosity, in combination with methylation, appears to be the mechanism targeting RASEF in uveal melanoma, and allelic imbalance at this locus supports a TSG role for RASEF. (PMID:18385040)
- overexpression of RAB45 increased the phosphorylation levels of p38, resulting in the induction of apoptosis and inhibition of proliferation of CML progenitor cells (PMID:21890458)
- Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma. (PMID:24703243)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rasef | ENSDARG00000076250 |
| mus_musculus | Rasef | ENSMUSG00000043003 |
| rattus_norvegicus | Rasef | ENSRNOG00000024190 |
Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955)
Protein
Protein identifiers
Ras and EF-hand domain-containing protein — Q8IZ41 (reviewed: Q8IZ41)
Alternative names: Ras-related protein Rab-45
All UniProt accessions (1): Q8IZ41
UniProt curated annotations — full annotation on UniProt →
Function. Rab GTPase that acts as a dynein adapter protein, thereby activating dynein-mediated transport and dynein-dynactin motility on microtubules. RASEF-mediated dynein motility is Ca(2+)-independent. Also regulates the formation and sorting of zymogen granules and secretion of digestive enzymes by pancreatic acinar cells.
Subunit / interactions. Homodimer. Interacts with the dynein-dynactin complex.
Subcellular location. Cytoplasm. Perinuclear region. Golgi apparatus. Early endosome. Late endosome. Lysosome.
Tissue specificity. Down-regulated in cutaneous melanoma cells but not in breast cancer cells.
Similarity. Belongs to the small GTPase superfamily. Rab family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IZ41-1 | 1 | yes |
| Q8IZ41-2 | 2 |
RefSeq proteins (1): NP_689786* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR002048 | EF_hand_dom | Domain |
| IPR005225 | Small_GTP-bd | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR050227 | Rab | Family |
Pfam: PF00071, PF13499
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (77 total): binding site 36, helix 13, strand 8, region of interest 5, compositionally biased region 3, domain 2, modified residue 2, splice variant 2, mutagenesis site 2, chain 1, sequence variant 1, turn 1, coiled-coil region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2P5S | X-RAY DIFFRACTION | 2.15 |
| 2PMY | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IZ41-F1 | 70.91 | 0.29 |
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 (36): 21; 23; 25; 27; 29; 32; 55; 57; 59; 61; 66; 551 …
Post-translational modifications (2): 377, 383
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 555 | impairs nucleotide binding and perinuclear localization. |
| 600 | favors gtp association. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 113 (showing top):
PEREZ_TP63_TARGETS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_EXOCYTOSIS, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_SECRETION, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, TGANTCA_AP1_C, GOBP_CALCIUM_ION_REGULATED_EXOCYTOSIS, PEREZ_TP53_AND_TP63_TARGETS, TGGAAA_NFAT_Q4_01, GOCC_ENDOLYSOSOME, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, chr9q21, GOMF_GTPASE_ACTIVITY, GOMF_GDP_BINDING
GO Biological Process (2): vesicle-mediated transport (GO:0016192), zymogen granule exocytosis (GO:0070625)
GO Molecular Function (8): GTPase activity (GO:0003924), G protein activity (GO:0003925), calcium ion binding (GO:0005509), GTP binding (GO:0005525), GDP binding (GO:0019003), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), metal ion binding (GO:0046872)
GO Cellular Component (6): cytoplasm (GO:0005737), early endosome (GO:0005769), Golgi apparatus (GO:0005794), cytosol (GO:0005829), endolysosome (GO:0036019), perinuclear region of cytoplasm (GO:0048471)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 3 |
| guanyl ribonucleotide binding | 2 |
| endosome | 2 |
| transport | 1 |
| cellular process | 1 |
| calcium-ion regulated exocytosis | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| metal ion binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| anion binding | 1 |
| protein binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| lysosome | 1 |
Protein interactions and networks
STRING
808 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RASEF | FRMD3 | A2A2Y4 | 622 |
| RASEF | BICDL1 | Q6ZP65 | 526 |
| RASEF | RAB11FIP3 | O75154 | 497 |
| RASEF | CD34 | P28906 | 496 |
| RASEF | TMEM210 | A6NLX4 | 493 |
| RASEF | TLE1 | Q04724 | 476 |
| RASEF | TLE4 | Q04727 | 469 |
| RASEF | BICDL2 | A1A5D9 | 460 |
| RASEF | SMIM9 | A6NGZ8 | 450 |
| RASEF | ACP3 | P15309 | 445 |
| RASEF | GNAQ | P50148 | 444 |
| RASEF | PSAT1 | Q9Y617 | 437 |
| RASEF | OR5H2 | Q8NGV7 | 432 |
| RASEF | NPAP1 | Q9NZP6 | 424 |
| RASEF | TTC9 | Q92623 | 420 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GDI1 | RAB4A | psi-mi:“MI:0914”(association) | 0.820 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| FAM9C | NDC80 | psi-mi:“MI:0914”(association) | 0.670 |
| CFTR | RASEF | psi-mi:“MI:0403”(colocalization) | 0.580 |
| PPFIBP2 | SNAP29 | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| RABL2B | RASEF | psi-mi:“MI:0914”(association) | 0.350 |
| CFTR | MYH7B | psi-mi:“MI:0914”(association) | 0.350 |
| MAPRE1 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| RASEF | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| GDI1 | NADK | psi-mi:“MI:0914”(association) | 0.350 |
| RABL2B | CEP43 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A11 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF6 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (51): RASEF (Affinity Capture-MS), RASEF (Affinity Capture-MS), RASEF (Affinity Capture-MS), RASEF (Affinity Capture-RNA), RASEF (Affinity Capture-MS), RASEF (Proximity Label-MS), RASEF (Negative Genetic), RASEF (Proximity Label-MS), RASEF (Proximity Label-MS), RASEF (Proximity Label-MS), SRC (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), UHRF1BP1L (Affinity Capture-MS), ITPR3 (Affinity Capture-MS), DYNC1LI2 (Affinity Capture-MS)
ESM2 similar proteins: A0A072VIM5, A0A0K0PU92, A2CIR7, F4IG73, F4JD14, G3LSH3, G8GTN7, O23052, O42132, O80560, P03372, P0CI65, P19785, P48423, P50242, P57717, P57753, Q0JJ01, Q29040, Q2HW56, Q2QXZ2, Q2RAQ5, Q337A0, Q53AD2, Q5D0W8, Q5YLM1, Q5ZLG9, Q69ZR2, Q6KAE5, Q6NLQ8, Q6PJI9, Q6WQJ1, Q7EZ44, Q7Z494, Q8C0M0, Q8CFE5, Q8IPH9, Q8IZ41, Q9CAJ9, Q9FDY4
Diamond homologs: A4FV54, A5WW21, C4YL11, F1PTE3, O24466, O42819, P07560, P0CY30, P0CY31, P10536, P11620, P16976, P17609, P17610, P20790, P20791, P22125, P22127, P22128, P24409, P28186, P28187, P28188, P31584, P33723, P34139, P34140, P35280, P35286, P36861, P40392, P40393, P41924, P51153, P51156, P55258, P61006, P61007, P61019, P61026
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
151 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 110 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3212 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:82997127:C:CC | acceptor_gain | 1.0000 |
| 9:83000894:A:AC | donor_gain | 1.0000 |
| 9:83000895:C:CC | donor_gain | 1.0000 |
| 9:83000895:CAT:C | donor_gain | 1.0000 |
| 9:83000917:T:TA | donor_gain | 1.0000 |
| 9:83000927:T:A | donor_gain | 1.0000 |
| 9:83000988:A:AC | donor_gain | 1.0000 |
| 9:83000989:C:CC | donor_gain | 1.0000 |
| 9:83000992:A:AC | donor_gain | 1.0000 |
| 9:83001127:TGAC:T | acceptor_gain | 1.0000 |
| 9:83001128:GACCT:G | acceptor_loss | 1.0000 |
| 9:83001129:ACCTG:A | acceptor_loss | 1.0000 |
| 9:83001131:C:CC | acceptor_gain | 1.0000 |
| 9:83001132:T:A | acceptor_loss | 1.0000 |
| 9:83003625:TAA:T | donor_gain | 1.0000 |
| 9:83003626:AAA:A | donor_gain | 1.0000 |
| 9:83004583:TATG:T | acceptor_gain | 1.0000 |
| 9:83004585:TG:T | acceptor_gain | 1.0000 |
| 9:83004587:C:CC | acceptor_gain | 1.0000 |
| 9:83009756:CCTGG:C | acceptor_loss | 1.0000 |
| 9:83009757:C:A | acceptor_loss | 1.0000 |
| 9:83009757:C:CC | acceptor_gain | 1.0000 |
| 9:83009758:T:A | acceptor_loss | 1.0000 |
| 9:83012508:CGAG:C | acceptor_gain | 1.0000 |
| 9:83015813:G:C | donor_gain | 1.0000 |
| 9:83015896:TTTTC:T | acceptor_gain | 1.0000 |
| 9:83015897:TTTC:T | acceptor_gain | 1.0000 |
| 9:83015898:TTC:T | acceptor_gain | 1.0000 |
| 9:83015899:TC:T | acceptor_gain | 1.0000 |
| 9:83015899:TCCT:T | acceptor_loss | 1.0000 |
AlphaMissense
4893 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:82998383:T:G | D596A | 0.999 |
| 9:82990397:A:G | L704P | 0.998 |
| 9:82997123:G:C | F603L | 0.998 |
| 9:82997123:G:T | F603L | 0.998 |
| 9:82997125:A:G | F603L | 0.998 |
| 9:82998383:T:A | D596V | 0.998 |
| 9:82998387:A:G | W595R | 0.998 |
| 9:82998387:A:T | W595R | 0.998 |
| 9:83000249:C:T | G548E | 0.998 |
| 9:83000250:C:A | G548W | 0.998 |
| 9:82990438:A:C | S690R | 0.997 |
| 9:82990438:A:T | S690R | 0.997 |
| 9:82990440:T:G | S690R | 0.997 |
| 9:82992910:G:T | A679D | 0.997 |
| 9:82997029:A:G | W635R | 0.997 |
| 9:82997029:A:T | W635R | 0.997 |
| 9:82997076:A:G | L619P | 0.997 |
| 9:82998382:A:C | D596E | 0.997 |
| 9:82998382:A:T | D596E | 0.997 |
| 9:82998383:T:C | D596G | 0.997 |
| 9:82998384:C:G | D596H | 0.997 |
| 9:82998389:A:G | L594P | 0.997 |
| 9:83000231:T:A | K554M | 0.997 |
| 9:83000232:T:G | K554Q | 0.997 |
| 9:83000234:C:T | G553E | 0.997 |
| 9:83000235:C:A | G553W | 0.997 |
| 9:83009731:A:G | L290P | 0.997 |
| 9:82990391:C:G | R706P | 0.996 |
| 9:82990395:C:G | A705P | 0.996 |
| 9:82992981:C:A | K655N | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000014293 (9:83033872 C>T), RS1000023606 (9:83120146 A>G), RS1000023799 (9:83200340 G>A), RS1000026376 (9:83073745 A>G), RS1000039906 (9:83170028 C>G,T), RS1000045823 (9:83158496 T>C), RS1000054957 (9:83199941 C>T), RS1000058055 (9:82981055 T>C,G), RS1000061700 (9:83216872 T>C), RS1000074287 (9:83066775 TAGAA>T), RS1000075272 (9:83078239 T>C), RS1000095239 (9:83030623 T>C), RS1000124194 (9:83087982 A>G), RS1000144925 (9:83108681 C>A,T), RS1000158307 (9:82997363 A>C)
Disease associations
OMIM: gene MIM:611344 | 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 |
|---|---|---|
| GCST001762_493 | Obesity-related traits | 8.000000e-06 |
| GCST003773_8 | Loneliness (multivariate analysis) | 4.000000e-07 |
| GCST005024_43 | Pursuit maintenance gain | 8.000000e-07 |
| GCST006138_5 | Resting-state electroencephalogram vigilance | 3.000000e-06 |
| GCST007576_102 | Chronotype | 3.000000e-10 |
| GCST007692_83 | Chronic obstructive pulmonary disease | 2.000000e-08 |
| GCST008526_11 | Coffee consumption | 6.000000e-07 |
| GCST010321_16 | PR interval | 8.000000e-10 |
| GCST012034_7 | Sleep (1/2-day periodicity) | 2.000000e-08 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005109 | energy expenditure |
| EFO:0007865 | loneliness measurement |
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0004357 | electroencephalogram measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0006781 | coffee consumption measurement |
| EFO:0004462 | PR interval |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 6 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Cadmium Chloride | increases expression, decreases expression | 3 |
| methylmercuric chloride | increases expression | 2 |
| sodium arsenite | decreases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| Estradiol | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression, decreases expression | 2 |
| terbufos | increases methylation | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | affects methylation | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| belinostat | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Demecolcine | increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | 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.