RABL2B
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Summary
RABL2B (RAB, member of RAS oncogene family like 2B, HGNC:9800) is a protein-coding gene on chromosome 22q13.33, encoding Rab-like protein 2B (Q9UNT1). Small GTPase required for ciliation.
The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene.
Source: NCBI Gene 11158 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 52 total — 1 pathogenic
- MANE Select transcript:
NM_001130919
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9800 |
| Approved symbol | RABL2B |
| Name | RAB, member of RAS oncogene family like 2B |
| Location | 22q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000079974 |
| Ensembl biotype | protein_coding |
| OMIM | 605413 |
| Entrez | 11158 |
Gene structure
Transcript identifiers
Ensembl transcripts: 100 — 91 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000354869, ENST00000395590, ENST00000395591, ENST00000395593, ENST00000395595, ENST00000395598, ENST00000413505, ENST00000425098, ENST00000435118, ENST00000436958, ENST00000464678, ENST00000464740, ENST00000465063, ENST00000468451, ENST00000482308, ENST00000685352, ENST00000690024, ENST00000691320, ENST00000887284, ENST00000887285, ENST00000887286, ENST00000887287, ENST00000887288, ENST00000887289, ENST00000887290, ENST00000887291, ENST00000887292, ENST00000887293, ENST00000887294, ENST00000887295, ENST00000887296, ENST00000887297, ENST00000887298, ENST00000887299, ENST00000887300, ENST00000887301, ENST00000887302, ENST00000887303, ENST00000887304, ENST00000887305, ENST00000887306, ENST00000887307, ENST00000887308, ENST00000887309, ENST00000887310, ENST00000887311, ENST00000887312, ENST00000887313, ENST00000887314, ENST00000887315, ENST00000887316, ENST00000887317, ENST00000887318, ENST00000887319, ENST00000887320, ENST00000887321, ENST00000913954, ENST00000913955, ENST00000913956, ENST00000913957, ENST00000913958, ENST00000913959, ENST00000913960, ENST00000913961, ENST00000913962, ENST00000913963, ENST00000913964, ENST00000913965, ENST00000913966, ENST00000913967, ENST00000913968, ENST00000913969, ENST00000913970, ENST00000913971, ENST00000913972, ENST00000913973, ENST00000913974, ENST00000913975, ENST00000913976, ENST00000913977, ENST00000913978, ENST00000913979, ENST00000913980, ENST00000961112, ENST00000961113, ENST00000961114, ENST00000961115, ENST00000961116, ENST00000961117, ENST00000961118, ENST00000961119, ENST00000961120, ENST00000961121, ENST00000961122, ENST00000961123, ENST00000961124, ENST00000961125, ENST00000961126, ENST00000961127, ENST00000961128
RefSeq mRNA: 24 — MANE Select: NM_001130919
NM_001003789, NM_001130919, NM_001130920, NM_001130921, NM_001130922, NM_001130923, NM_001350003, NM_001350004, NM_001350005, NM_001350006, NM_001350007, NM_001350008, NM_001350009, NM_001350010, NM_001350011, NM_001350012, NM_001350013, NM_001350014, NM_001350015, NM_001350016, NM_001350017, NM_001394054, NM_001394055, NM_007081
CCDS: CCDS14102, CCDS33683, CCDS46738
Canonical transcript exons
ENST00000691320 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001890928 | 50783501 | 50783636 |
| ENSE00002474834 | 50769905 | 50770016 |
| ENSE00003497028 | 50782188 | 50782347 |
| ENSE00003523827 | 50776670 | 50776749 |
| ENSE00003570915 | 50769041 | 50769124 |
| ENSE00003625751 | 50777952 | 50777981 |
| ENSE00003632578 | 50769455 | 50769552 |
| ENSE00003635536 | 50775772 | 50775851 |
| ENSE00003666330 | 50767506 | 50768874 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3905 / max 60.5031, expressed in 1721 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194809 | 5.3980 | 1699 |
| 194810 | 0.9925 | 634 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 99.44 | gold quality |
| fallopian tube | UBERON:0003889 | 96.01 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.94 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.64 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.38 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.35 | gold quality |
| cerebellum | UBERON:0002037 | 95.30 | gold quality |
| pituitary gland | UBERON:0000007 | 95.25 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.21 | gold quality |
| thyroid gland | UBERON:0002046 | 95.17 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.11 | gold quality |
| endocervix | UBERON:0000458 | 94.46 | gold quality |
| primary visual cortex | UBERON:0002436 | 94.33 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.25 | gold quality |
| left uterine tube | UBERON:0001303 | 94.16 | gold quality |
| right ovary | UBERON:0002118 | 94.04 | gold quality |
| granulocyte | CL:0000094 | 93.96 | gold quality |
| left ovary | UBERON:0002119 | 93.86 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.72 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.67 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.66 | gold quality |
| body of uterus | UBERON:0009853 | 93.62 | gold quality |
| cortical plate | UBERON:0005343 | 93.56 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 93.46 | gold quality |
| ovary | UBERON:0000992 | 93.39 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.24 | gold quality |
| left testis | UBERON:0004533 | 92.94 | gold quality |
| hypothalamus | UBERON:0001898 | 92.76 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.73 | gold quality |
| brain | UBERON:0000955 | 92.72 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 61.91 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
64 targeting RABL2B, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-3975 | 99.62 | 65.97 | 697 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-4728-3P | 99.47 | 68.94 | 981 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
Literature-anchored findings (GeneRIF, showing 4)
- In human samples no deviations of the euploid genomic state could be detected indicating that 22q13 microdeletions involving RABL2B are rare. (PMID:20138207)
- According to the present study, 50776482 delC allele in the RABL2B gene could be a risk factor in Iranian infertile men with oligoasthenoteratozoospermia defect, but more genetic studies are required to understand the accurate role of this variant in pathogenesis of human male infertility. (PMID:28138870)
- CEP19 is recruited to the ciliary base by the centriolar CEP350/FOP complex and then specifically captures GTP-bound RABL2B, which is activated via its intrinsic nucleotide exchange. (PMID:28625565)
- RABL2 controls localization of GPR161 independently of TULP3, which promotes entry of ciliary GPCRs. (PMID:30578315)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rabl2 | ENSDARG00000063321 |
| mus_musculus | Rabl2 | ENSMUSG00000022621 |
| rattus_norvegicus | Rabl2 | ENSRNOG00000013947 |
Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), 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), RAB41 (ENSG00000147127)
Protein
Protein identifiers
Rab-like protein 2B — Q9UNT1 (reviewed: Q9UNT1)
All UniProt accessions (9): Q9UNT1, A0A0S2SW46, A0A8I5KRY9, A0A8I5KX29, A8MXF6, C9JFZ0, F2Z2T3, F2Z3A9, F2Z3J7
UniProt curated annotations — full annotation on UniProt →
Function. Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability. Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia.
Subunit / interactions. Interacts (in its GTP-bound form) with CEP19 (via residues 121-150); this interaction is required for its localization to the mother centriole and cilium basal body. Interacts (in its GTP-bound form) with the intraflagellar transport (IFT) complex B (via the IFT74-IFT81 heterodimer). Binding to CEP19 and the IFT74-IFT81 heterodimer is mutually exclusive.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body.
Tissue specificity. Expressed in the testis.
Domain organisation. Switch I, switch II and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drive interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.
Similarity. Belongs to the small GTPase superfamily. Rab family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UNT1-1 | 1 | yes |
| Q9UNT1-2 | 2 | |
| Q9UNT1-3 | 3 |
RefSeq proteins (24): NP_001003789, NP_001124391, NP_001124392, NP_001124393, NP_001124394, NP_001124395, NP_001336932, NP_001336933, NP_001336934, NP_001336935, NP_001336936, NP_001336937, NP_001336938, NP_001336939, NP_001336940, NP_001336941, NP_001336942, NP_001336943, NP_001336944, NP_001336945, NP_001336946, NP_001380983, NP_001380984, NP_009012 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR041835 | RabL2 | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (23 total): binding site 14, region of interest 3, mutagenesis site 3, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UNT1-F1 | 79.88 | 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 (14): 53; 53; 76; 79; 133; 134; 136; 160; 30; 31; 33; 34 …
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 35 | gdp-locked form; mild defects in ciliary assembly. loss of interaction with the intraflagellar transport (ift) complex b |
| 73 | mild defects in ciliary assembly. loss of interaction with the intraflagellar transport (ift) complex b via the ift74-if |
| 80 | gtp-locked form; interacts with the intraflagellar transport (ift) complex b via the ift74-ift81 heterodimer. localizes |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 66 (showing top):
GCM_MAP4K4, GCM_GSPT1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, GCM_SUFU, GCM_NF2, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CENTRIOLE, GCM_PTK2, chr22q13, GOCC_PERICENTRIOLAR_MATERIAL, GOCC_CILIUM
GO Biological Process (5): intracellular protein transport (GO:0006886), intraciliary transport (GO:0042073), cilium assembly (GO:0060271), microtubule-based movement (GO:0007018), cell projection organization (GO:0030030)
GO Molecular Function (5): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (8): pericentriolar material (GO:0000242), cytoplasm (GO:0005737), centriole (GO:0005814), endomembrane system (GO:0012505), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cilium | 2 |
| cilium organization | 2 |
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| transport along microtubule | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| microtubule-based process | 1 |
| cellular component organization | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| centrosome | 1 |
| intracellular anatomical structure | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
2079 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RABL2B | SHANK3 | Q9BYB0 | 932 |
| RABL2B | APPL2 | Q8NEU8 | 895 |
| RABL2B | ALG12 | Q9BV10 | 777 |
| RABL2B | CEP19 | Q96LK0 | 659 |
| RABL2B | PIM3 | Q86V86 | 572 |
| RABL2B | IFT22 | Q9H7X7 | 554 |
| RABL2B | SULT4A1 | Q9BR01 | 512 |
| RABL2B | SHANK2 | Q9UPX8 | 471 |
| RABL2B | MAPK8IP2 | Q13387 | 449 |
| RABL2B | ARL13B | Q3SXY8 | 443 |
| RABL2B | IFT38 | Q96AJ1 | 441 |
| RABL2B | IFT56 | A0AVF1 | 438 |
| RABL2B | IFT74 | Q96LB3 | 433 |
| RABL2B | IFT27 | Q9BW83 | 430 |
| RABL2B | CPLANE2 | Q9BU20 | 427 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RABL2B | CEP19 | psi-mi:“MI:0915”(physical association) | 0.550 |
| RABL2B | TUFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| RABL2B | CEP43 | psi-mi:“MI:0914”(association) | 0.350 |
| HPN | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (23): RASEF (Affinity Capture-MS), IDI2 (Affinity Capture-MS), CEP19 (Two-hybrid), RASEF (Affinity Capture-MS), IDI2 (Affinity Capture-MS), RABL2B (Affinity Capture-MS), RABL2B (Reconstituted Complex), RABL2B (Co-localization), RABL2B (Co-localization), IFT88 (Co-localization), CEP19 (Two-hybrid), RABL2B (Proximity Label-MS), FGFR1OP (Affinity Capture-MS), RASEF (Affinity Capture-MS), IDI2 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I5ZNK2, A1L1L6, A2YNT8, A9TF79, D4AE59, E9Q9D5, O54833, O95057, P19784, P20427, P24786, P43291, P43292, P49137, P49138, P87027, Q0D4J7, Q0GGW5, Q16288, Q16644, Q2HJF8, Q32LJ6, Q4R4K5, Q5E9J4, Q5FVJ7, Q5IFJ9, Q5IS37, Q5N942, Q5R573, Q5ZKR4, Q66H84, Q6NVC5, Q6ZI44, Q75H77, Q75LR7, Q75V57, Q7XQP4, Q8BG51, Q8IXI2, Q91604
Diamond homologs: E9Q9D5, G4MYS1, I1RMF2, O01803, O04486, O35509, O42819, O49513, O76173, O94655, P07560, P10536, P11620, P22125, P22129, P24408, P28185, P28187, P28188, P31584, P32939, P33519, P33723, P34139, P34140, P35293, P36412, P38545, P38555, P40392, P40393, P41924, P46638, P51151, P62490, P62491, P62492, P62493, P62494, P62820
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 979616 | GRCh37/hg19 22q13.33(chr22:51122307-51224091)x1 | Pathogenic |
SpliceAI
2264 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:50768779:G:C | donor_gain | 1.0000 |
| 22:50768798:T:TA | donor_gain | 1.0000 |
| 22:50769036:CCTA:C | donor_loss | 1.0000 |
| 22:50769039:A:C | donor_loss | 1.0000 |
| 22:50769125:C:CC | acceptor_gain | 1.0000 |
| 22:50782186:A:AC | donor_gain | 1.0000 |
| 22:50782187:C:CC | donor_gain | 1.0000 |
| 22:50768873:TT:T | acceptor_gain | 0.9900 |
| 22:50768875:C:A | acceptor_loss | 0.9900 |
| 22:50768875:C:CC | acceptor_gain | 0.9900 |
| 22:50769121:AGAG:A | acceptor_gain | 0.9900 |
| 22:50769122:GAG:G | acceptor_gain | 0.9900 |
| 22:50769123:AGCT:A | acceptor_loss | 0.9900 |
| 22:50769124:GCTG:G | acceptor_loss | 0.9900 |
| 22:50769550:CTG:C | acceptor_gain | 0.9900 |
| 22:50769920:C:CT | donor_gain | 0.9900 |
| 22:50769921:C:CT | donor_gain | 0.9900 |
| 22:50769923:C:CT | donor_gain | 0.9900 |
| 22:50769953:C:CA | donor_gain | 0.9900 |
| 22:50770013:ACACC:A | acceptor_loss | 0.9900 |
| 22:50770014:CACCT:C | acceptor_loss | 0.9900 |
| 22:50770015:ACCT:A | acceptor_loss | 0.9900 |
| 22:50770017:C:A | acceptor_loss | 0.9900 |
| 22:50770018:T:A | acceptor_loss | 0.9900 |
| 22:50775735:G:A | donor_gain | 0.9900 |
| 22:50776757:CAGGT:C | acceptor_gain | 0.9900 |
| 22:50776761:T:TC | acceptor_gain | 0.9900 |
| 22:50777835:CACT:C | donor_loss | 0.9900 |
| 22:50777836:ACTT:A | donor_loss | 0.9900 |
| 22:50777837:CTTAC:C | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1054698 (22:50769673 G>A,T), RS111231340 (22:50779722 A>G), RS111254433 (22:50767582 T>A), RS111356418 (22:50775105 A>C), RS111547533 (22:50781129 C>A,T), RS111565638 (22:50768634 A>T), RS112000803 (22:50778350 C>T), RS112046010 (22:50771045 ATTTTTTT>A,AT,ATTT,ATTTT,ATTTTT,ATTTTTT,ATTTTTTTT,ATTTTTTTTT,ATTTTTTTTTTT,ATTTTTTTTTTTTTTT), RS112423828 (22:50771298 T>A), RS112565862 (22:50771861 C>A,T), RS112650036 (22:50768128 C>T), RS112718844 (22:50771452 G>T), RS112796042 (22:50779913 G>A), RS112852441 (22:50780547 C>T), RS112869710 (22:50768549 C>A,T)
Disease associations
OMIM: gene MIM:605413 | 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
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| dicrotophos | increases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Gallic Acid | increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Acrylamide | decreases 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.