MICALL2
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Also known as MGC46023FLJ23471MICAL-L2JRAB
Summary
MICALL2 (MICAL like 2, HGNC:29672) is a protein-coding gene on chromosome 7p22.3, encoding MICAL-like protein 2 (Q8IY33). Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization.
Enables filamin binding activity. Involved in positive regulation of protein targeting to mitochondrion. Predicted to be located in several cellular components, including bicellular tight junction; recycling endosome; and stress fiber.
Source: NCBI Gene 79778 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 315 total — 1 pathogenic
- MANE Select transcript:
NM_182924
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29672 |
| Approved symbol | MICALL2 |
| Name | MICAL like 2 |
| Location | 7p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC46023, FLJ23471, MICAL-L2, JRAB |
| Ensembl gene | ENSG00000164877 |
| Ensembl biotype | protein_coding |
| OMIM | 620912 |
| Entrez | 79778 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 12 retained_intron, 6 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000297508, ENST00000413446, ENST00000460198, ENST00000467394, ENST00000467783, ENST00000470807, ENST00000471899, ENST00000472100, ENST00000479007, ENST00000482839, ENST00000487156, ENST00000487187, ENST00000490608, ENST00000493998, ENST00000496184, ENST00000873414, ENST00000873415, ENST00000873416, ENST00000873417, ENST00000912207
RefSeq mRNA: 1 — MANE Select: NM_182924
NM_182924
CCDS: CCDS5324
Canonical transcript exons
ENST00000297508 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001088213 | 1442192 | 1442484 |
| ENSE00001182998 | 1440591 | 1440684 |
| ENSE00001898295 | 1459184 | 1459470 |
| ENSE00003473828 | 1446713 | 1446828 |
| ENSE00003482138 | 1437890 | 1437980 |
| ENSE00003495529 | 1444652 | 1445428 |
| ENSE00003495980 | 1435101 | 1435147 |
| ENSE00003510778 | 1448620 | 1448761 |
| ENSE00003528667 | 1447575 | 1447765 |
| ENSE00003568818 | 1438289 | 1438353 |
| ENSE00003574084 | 1434359 | 1434672 |
| ENSE00003614728 | 1436742 | 1436856 |
| ENSE00003623870 | 1438840 | 1438995 |
| ENSE00003647851 | 1438097 | 1438220 |
| ENSE00003652316 | 1439925 | 1440085 |
| ENSE00003670567 | 1450240 | 1450288 |
| ENSE00003672334 | 1437535 | 1437608 |
Expression profiles
Bgee: expression breadth ubiquitous, 218 present calls, max score 98.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5387 / max 742.3218, expressed in 1733 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82411 | 7.2379 | 1566 |
| 82413 | 2.9284 | 1475 |
| 82412 | 0.3724 | 161 |
Top tissues by expression
274 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibial nerve | UBERON:0001323 | 98.36 | gold quality |
| sural nerve | UBERON:0015488 | 98.34 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.46 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.38 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.36 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.13 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.92 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.96 | gold quality |
| spleen | UBERON:0002106 | 95.71 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.69 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.64 | gold quality |
| transverse colon | UBERON:0001157 | 95.15 | gold quality |
| body of stomach | UBERON:0001161 | 95.08 | gold quality |
| right uterine tube | UBERON:0001302 | 94.92 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.82 | gold quality |
| right coronary artery | UBERON:0001625 | 94.20 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.94 | gold quality |
| adrenal gland | UBERON:0002369 | 93.87 | gold quality |
| small intestine | UBERON:0002108 | 93.77 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.64 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.48 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.30 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 93.17 | gold quality |
| cingulate cortex | UBERON:0003027 | 93.01 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.98 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.68 | gold quality |
| amygdala | UBERON:0001876 | 92.18 | gold quality |
| ascending aorta | UBERON:0001496 | 92.17 | gold quality |
| left coronary artery | UBERON:0001626 | 92.15 | gold quality |
| endocervix | UBERON:0000458 | 92.11 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 10.99 |
| E-ANND-3 | yes | 6.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
2 targeting MICALL2, 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-135A-2-3P | 98.40 | 66.74 | 442 |
| HSA-MIR-135B-3P | 98.40 | 67.35 | 426 |
Literature-anchored findings (GeneRIF, showing 7)
- Involved in epithelial cell scattering. (PMID:17891173)
- Data indicate that MICAL-L2 may be an important regulator of epithelial-mesenchymal transition (EMT) in ovarian cancer cells. (PMID:25864591)
- We identified one new significant locus at 7p22.3 for the Stroop word interference time (rs11514810, P=3.42E-09 for discovery, P=0.01176 for replication and combined P=5.249E-09). Regulatory feature analysis and expression quantitative trait loci (eQTL) data showed that this locus contributes to MICALL2 expression in the human brain. (PMID:28416812)
- Up-regulation of MICAL-L2 is associated with gastric cancer cell migration. (PMID:31034158)
- JRAB/MICAL-L2 undergoes liquid-liquid phase separation to form tubular recycling endosomes. (PMID:33976349)
- MICALL2 as a substrate of ubiquitinase TRIM21 regulates tumorigenesis of colorectal cancer. (PMID:36307841)
- Comprehensive Analysis of MICALL2 Reveals Its Potential Roles in EGFR Stabilization and Ovarian Cancer Cell Invasion. (PMID:38203692)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | micall2b | ENSDARG00000017834 |
| danio_rerio | micall2a | ENSDARG00000102366 |
| mus_musculus | Micall2 | ENSMUSG00000036718 |
| rattus_norvegicus | Micall2 | ENSRNOG00000022533 |
| drosophila_melanogaster | Ehbp1 | FBGN0034180 |
Paralogs (7): ASPM (ENSG00000066279), MICALL1 (ENSG00000100139), EHBP1 (ENSG00000115504), GAS2 (ENSG00000148935), EHBP1L1 (ENSG00000173442), GAS2L1 (ENSG00000185340), SMTNL1 (ENSG00000214872)
Protein
Protein identifiers
MICAL-like protein 2 — Q8IY33 (reviewed: Q8IY33)
Alternative names: Junctional Rab13-binding protein, Molecule interacting with CasL-like 2
All UniProt accessions (1): Q8IY33
UniProt curated annotations — full annotation on UniProt →
Function. Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization. Regulates the endocytic recycling of occludins, claudins and E-cadherin to the plasma membrane and may thereby regulate the establishment of tight junctions and adherens junctions. In parallel, may regulate actin cytoskeleton reorganization directly through interaction with F-actin or indirectly through actinins and filamins. Most probably involved in the processes of epithelial cell differentiation, cell spreading and neurite outgrowth. Undergoes liquid-liquid phase separation to form tubular recycling endosomes. Plays 2 sequential roles in the biogenesis of tubular recycling endosomes: first organizes phase separation and then the closed form formed by interaction with RAB8A promotes endosomal tubulation.
Subunit / interactions. Interacts with RAB13 (GTP-bound form); competes with RAB8A and is involved in tight junctions assembly. Interacts with RAB8A; competes with RAB13 and is involved in E-cadherin endocytic recycling. Interacts with RAB8B. Interacts (preferentially in opened conformation) with ACTN1 and ACTN4; stimulated by RAB13 activation. Interacts (via calponin-homology (CH) domain) with the filamins FLNA, FLNB and FLNC (via actin-binding domain).
Subcellular location. Cell membrane. Cell junction. Tight junction. Recycling endosome. Cell projection. Cytoplasm. Cytoskeleton.
Domain organisation. Exists in a closed and an open conformation due to interaction of the C-terminal coiled-coil domain with an N-terminal region including the calponin-homology (CH) and the LIM zinc-binding domain. The conformational change is regulated by RAB13 and RAB8A. Adopts its closed form upon interaction with RAB8A and interaction with RAB13 causes conformational change from closed to open.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IY33-1 | 1 | yes |
| Q8IY33-2 | 2 | |
| Q8IY33-3 | 3 | |
| Q8IY33-4 | 4 | |
| Q8IY33-5 | 5 |
RefSeq proteins (1): NP_891554* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001715 | CH_dom | Domain |
| IPR001781 | Znf_LIM | Domain |
| IPR022735 | bMERB_dom | Domain |
| IPR036872 | CH_dom_sf | Homologous_superfamily |
| IPR050540 | F-actin_Monoox_Mical | Family |
Pfam: PF00307, PF00412, PF12130
UniProt features (50 total): compositionally biased region 13, modified residue 13, region of interest 7, splice variant 5, sequence variant 4, domain 3, sequence conflict 3, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IY33-F1 | 56.94 | 0.18 |
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 (13): 110, 143, 153, 249, 294, 494, 504, 598, 644, 649, 658, 660, 726
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 141 (showing top):
GOBP_ENDOSOME_ORGANIZATION, PEREZ_TP63_TARGETS, GOBP_VESICLE_ORGANIZATION, GOBP_APICAL_JUNCTION_ASSEMBLY, GOBP_PROTEIN_TARGETING, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_GTPASE_BINDING, chr7p22, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, GOBP_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION
GO Biological Process (9): actin cytoskeleton organization (GO:0030036), actin filament polymerization (GO:0030041), neuron projection development (GO:0031175), endocytic recycling (GO:0032456), Rab protein signal transduction (GO:0032482), substrate adhesion-dependent cell spreading (GO:0034446), bicellular tight junction assembly (GO:0070830), endosome membrane tubulation (GO:0097750), obsolete positive regulation of protein targeting to mitochondrion (GO:1903955)
GO Molecular Function (6): filamin binding (GO:0031005), small GTPase binding (GO:0031267), actinin binding (GO:0042805), metal ion binding (GO:0046872), actin filament binding (GO:0051015), protein binding (GO:0005515)
GO Cellular Component (13): stress fiber (GO:0001725), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), bicellular tight junction (GO:0005923), neuron projection (GO:0043005), recycling endosome (GO:0055037), cytoplasm (GO:0005737), endosome (GO:0005768), cytoskeleton (GO:0005856), membrane (GO:0016020), actin filament bundle (GO:0032432), cell projection (GO:0042995), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoskeletal protein binding | 2 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| actin polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| neuron development | 1 |
| plasma membrane bounded cell projection organization | 1 |
| endosomal transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| small GTPase-mediated signal transduction | 1 |
| cell-substrate adhesion | 1 |
| apical junction assembly | 1 |
| tight junction assembly | 1 |
| endosome organization | 1 |
| membrane tubulation | 1 |
| GTPase binding | 1 |
| cation binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| actomyosin | 1 |
| contractile actin filament bundle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| anchoring junction | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| plasma membrane bounded cell projection | 1 |
| endosome | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| intracellular membraneless organelle | 1 |
| actin filament | 1 |
| actin cytoskeleton | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
862 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MICALL2 | RAB13 | P51153 | 935 |
| MICALL2 | RAB8A | P24407 | 802 |
| MICALL2 | NEDD9 | Q14511 | 701 |
| MICALL2 | RAB10 | P61026 | 585 |
| MICALL2 | ACTN4 | O43707 | 536 |
| MICALL2 | RAB35 | Q15286 | 511 |
| MICALL2 | ALS2CL | Q60I27 | 459 |
| MICALL2 | GRB2 | P29354 | 445 |
| MICALL2 | RAB27B | O00194 | 424 |
| MICALL2 | RAB36 | O95755 | 421 |
| MICALL2 | RAB12 | Q6IQ22 | 405 |
| MICALL2 | MAPKAP1 | Q9BPZ7 | 397 |
| MICALL2 | TLE1 | Q04724 | 388 |
| MICALL2 | DOCK1 | Q14185 | 376 |
| MICALL2 | PDPN | Q86YL7 | 374 |
| MICALL2 | GLI2 | P10070 | 374 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACTN2 | MICALL2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| MICALL2 | ACTN2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| PIGS | GPAA1 | psi-mi:“MI:0914”(association) | 0.760 |
| MICALL2 | ACTN1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ACTN1 | MICALL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RAB8A | WDR91 | psi-mi:“MI:0914”(association) | 0.600 |
| MICALL2 | CDR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACTN3 | MICALL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACTN4 | MICALL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MICALL2 | DCDC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB8B | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| MICALL2 | ERP29 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Rab8a | RAB8A | psi-mi:“MI:0915”(physical association) | 0.400 |
| Hdac6 | TDG | psi-mi:“MI:0914”(association) | 0.350 |
| FGD1 | psi-mi:“MI:0914”(association) | 0.350 | |
| Kif13b | TCF3 | psi-mi:“MI:0914”(association) | 0.350 |
| NES | RPL10 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF281 | KIF21B | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | PDZD2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (149): MICALL2 (Two-hybrid), MICALL2 (Two-hybrid), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Proximity Label-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Two-hybrid), MICALL2 (Two-hybrid), MICALL2 (Two-hybrid)
ESM2 similar proteins: A1L1I3, A5PKW4, O08919, O70405, O75385, O75420, O75553, P16554, P42128, P49757, P53814, P85037, P97318, P98081, Q04637, Q2LC84, Q3UCQ1, Q4KMP7, Q5DTT2, Q5I1X5, Q5RBR0, Q5VZ18, Q69ZH9, Q69ZI1, Q7TN02, Q7Z6J0, Q80VC9, Q80XI3, Q80Z38, Q86V15, Q8BGT6, Q8BHL3, Q8BSD5, Q8C120, Q8CI12, Q8IY33, Q8K4J6, Q8N3F8, Q8TEH3, Q8TEJ3
Diamond homologs: A5D7D1, D3ZEN0, D3ZHA0, D3ZHV2, D3ZQL6, E1BBG2, F1MF74, F1RA39, F6QZ15, G3MWR8, G3V7L1, L7UZ85, M9MRD1, O13728, O15020, O43707, O75369, O76329, O88990, O94851, O97592, P05094, P05095, P07751, P11277, P11530, P11531, P11532, P11533, P12814, P13395, P13466, P15508, P16086, P16546, P18091, P20111, P21333, P30427, P35609
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 37 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| actin cytoskeleton organization | 5 | 12.4× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
315 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 219 |
| Likely benign | 29 |
| Benign | 25 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 375381 | NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) | Pathogenic |
SpliceAI
3346 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:1435100:CCCAG:C | donor_gain | 1.0000 |
| 7:1435104:G:C | donor_gain | 1.0000 |
| 7:1436738:TCACC:T | donor_loss | 1.0000 |
| 7:1436740:A:AC | donor_gain | 1.0000 |
| 7:1436740:ACCGG:A | donor_loss | 1.0000 |
| 7:1436741:C:CC | donor_gain | 1.0000 |
| 7:1436741:CCGGA:C | donor_loss | 1.0000 |
| 7:1436751:T:TA | donor_gain | 1.0000 |
| 7:1436757:T:TA | donor_gain | 1.0000 |
| 7:1436855:CT:C | acceptor_gain | 1.0000 |
| 7:1437534:CCGGG:C | donor_gain | 1.0000 |
| 7:1437888:A:AC | donor_gain | 1.0000 |
| 7:1437889:C:CC | donor_gain | 1.0000 |
| 7:1438091:GCTCA:G | donor_loss | 1.0000 |
| 7:1438092:CTCA:C | donor_loss | 1.0000 |
| 7:1438093:TCAC:T | donor_loss | 1.0000 |
| 7:1438094:CA:C | donor_loss | 1.0000 |
| 7:1438095:ACCT:A | donor_gain | 1.0000 |
| 7:1438095:ACCTC:A | donor_gain | 1.0000 |
| 7:1438096:C:CG | donor_loss | 1.0000 |
| 7:1438096:CCT:C | donor_gain | 1.0000 |
| 7:1438096:CCTC:C | donor_gain | 1.0000 |
| 7:1438096:CCTCC:C | donor_gain | 1.0000 |
| 7:1438098:T:TA | donor_gain | 1.0000 |
| 7:1438099:C:A | donor_gain | 1.0000 |
| 7:1438216:TGCAG:T | acceptor_gain | 1.0000 |
| 7:1438217:GCAG:G | acceptor_gain | 1.0000 |
| 7:1438218:CAG:C | acceptor_gain | 1.0000 |
| 7:1438218:CAGC:C | acceptor_gain | 1.0000 |
| 7:1438219:A:T | acceptor_gain | 1.0000 |
AlphaMissense
5814 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:1448672:G:C | S94R | 0.999 |
| 7:1448672:G:T | S94R | 0.999 |
| 7:1448674:T:G | S94R | 0.999 |
| 7:1448756:G:C | F66L | 0.999 |
| 7:1448756:G:T | F66L | 0.999 |
| 7:1448758:A:G | F66L | 0.999 |
| 7:1459214:G:T | A38D | 0.999 |
| 7:1459229:C:A | G33V | 0.999 |
| 7:1459237:G:C | F30L | 0.999 |
| 7:1459237:G:T | F30L | 0.999 |
| 7:1459238:A:G | F30S | 0.999 |
| 7:1459239:A:G | F30L | 0.999 |
| 7:1437951:A:G | W781R | 0.998 |
| 7:1437951:A:T | W781R | 0.998 |
| 7:1448685:G:T | P90H | 0.998 |
| 7:1448748:G:T | A69D | 0.998 |
| 7:1459196:C:G | R44P | 0.998 |
| 7:1459229:C:T | G33D | 0.998 |
| 7:1459230:C:A | G33C | 0.998 |
| 7:1459230:C:G | G33R | 0.998 |
| 7:1459294:G:C | C11W | 0.998 |
| 7:1459297:C:A | W10C | 0.998 |
| 7:1459297:C:G | W10C | 0.998 |
| 7:1459299:A:G | W10R | 0.998 |
| 7:1459299:A:T | W10R | 0.998 |
| 7:1438114:A:G | L765P | 0.997 |
| 7:1448637:A:G | F106S | 0.997 |
| 7:1448718:A:G | L79P | 0.997 |
| 7:1448730:A:G | I75T | 0.997 |
| 7:1448757:A:G | F66S | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000038642 (7:1438597 C>T), RS1000059251 (7:1457924 T>C), RS1000103978 (7:1435821 G>A), RS1000132250 (7:1458300 C>T), RS1000285753 (7:1447485 C>T), RS1000301533 (7:1443736 A>G), RS1000415761 (7:1443882 G>A,C), RS1000467377 (7:1443276 A>C,G), RS1000506803 (7:1458914 C>T), RS1000529572 (7:1453396 G>A,C), RS1000551455 (7:1436634 T>A,C), RS1000552809 (7:1450535 C>T), RS1000574090 (7:1447302 C>A,T), RS1000659789 (7:1450687 G>A), RS1000710216 (7:1435599 C>G,T)
Disease associations
OMIM: gene MIM:620912 | disease phenotypes: MIM:213300
GenCC curated gene-disease
Mondo (1): Joubert syndrome 1 (MONDO:0008944)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002934_21 | Zinc levels | 8.000000e-06 |
| GCST004336_1 | Executive inhibition (Stroop WIT and CIT) in attention deficit hyperactivity disorder | 5.000000e-09 |
| GCST005983_32 | Serum uric acid levels | 3.000000e-08 |
| GCST005984_32 | Glomerular filtration rate | 9.000000e-39 |
| GCST005985_50 | Creatinine levels | 1.000000e-37 |
| GCST005986_37 | Blood urea nitrogen levels | 2.000000e-31 |
| GCST005994_2 | Hematocrit | 1.000000e-14 |
| GCST005995_14 | Hemoglobin | 2.000000e-14 |
| GCST005996_26 | Red blood cell count | 3.000000e-12 |
| GCST007725_34 | Serum uric acid levels | 5.000000e-10 |
| GCST009103_1 | Resistance to antihypertensive treatment in hypertension | 4.000000e-07 |
| GCST011995_3 | Restless legs syndrome | 2.000000e-18 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007969 | cognitive inhibition measurement |
| EFO:0004761 | uric acid measurement |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004305 | erythrocyte count |
| EFO:1002006 | treatment-resistant hypertension |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases methylation, increases expression | 3 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| sodium arsenite | decreases expression, increases abundance | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Aflatoxin B1 | increases expression, affects expression | 2 |
| Particulate Matter | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| avobenzone | increases expression | 1 |
| clothianidin | decreases expression | 1 |
| abrine | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Joubert syndrome 1, restless legs syndrome