MICALL2 (MICAL like 2)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 79778
Gene name MICAL like 2
Gene symbol MICALL2
Synonyms (NCBI Gene)
JRABMICAL-L2
Chromosome 7
Chromosome location 7p22.3
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs556808514 G>A,C Pathogenic Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (42)
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IEA
GO:0001725 Component Stress fiber ISS
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
620912 29672 ENSG00000164877
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IY33
Protein name MICAL-like protein 2 (Junctional Rab13-binding protein) (Molecule interacting with CasL-like 2) (MICAL-L2)
Protein 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 occlu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 1 → 108 Calponin homology (CH) domain Domain
PF00412 LIM 188 → 244 LIM domain Domain
PF12130 DUF3585 740 → 872 Bivalent Mical/EHBP Rab binding domain Domain
Sequence 
MAAIRALQQWCRQQCEGYRDVNICNMTTSFRDGLAFCAILHRHRPDLINFSALKKENIYE
NNKLAFRVAEEHLGIPALLDAEDMVALKVPDRLSILTYVSQYYNYFHGRSPIGGMAGVKR
ASEDSEEEPSGKKAPVQAAKLPSPAPARKPPLSPAQTNPVVQRRNEGAGGPPPKTDQALA
GSLVSSTCGVCGKHVHLVQRHLADGRLYHRSCFRCKQCSCTLHSGAYKATGEPGTFVCTS
HLPAAASASPKLTGLVPRQPGAMGVDSRTSCSPQKAQEANKARPSAWEPAAGNSPARASV
PAAPNPAATSATSVHVRSPARPSESRLAPTPTEGKVRPRVTNSSPMGWSSAAPCTAAAAS
HPAVPPSAPDPRPATPQGGGAPRVAAPQTTLSSSSTSAATVDPPAWTPSASRTQQARNKF
FQTSAVPPGTSLSGRGPTPSLVLSKDSSKEQARNFLKQALSALEEAGAPAPGRPSPATAA
VPSSQPKTEAPQASPLAKPLQSSSPRVLGLPSRMEPPAPLSTSSTSQASALPPAGRRNLA
ESSGVGRVGAGSRPKPEAPMAKGKSTTLTQDMSTSLQEGQEDGPAGWRANLKPVDRRSPA
ERTLKPKEPRALAEPRAGEAPRKVSGSFAGSVHITLTPVRPDRTPRPASPGPSLPARSPS
PPRRRRLAVPASLDVCDNWLRPEPPGQEARVQSWKEEEKKPHLQGKPGRPLSPANVPALP
GETVTSPVRLHPDYLSPEEIQRQLQDIERRLDALELRGVELEKRLRAAEGDDAEDSLMVD
WFWLIHEKQLLLRQESELMYKSKAQRLEEQQLDIEGELRRLMAKPEALKSLQERRREQEL
LEQYVSTVNDRSDIVDSLDEDRLREQEEDQMLRDMIEKLGLQRKKSKFRLSKIWSPKSKS
SPSQ
Sequence length 904
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Tight junction  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Joubert syndrome 1 Pathogenic rs556808514 RCV000416431
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs200412394 RCV005930679
Malignant tumor of urinary bladder Uncertain significance rs759912290 RCV005930876
Melanoma Uncertain significance rs779199787 RCV005930998
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Colonic Neoplasms Associate 35501725
Colorectal Neoplasms Associate 36307841
Glioblastoma Associate 30894197
Glioma Associate 30894197
Neoplasms Associate 31034158, 35501725
Ovarian Neoplasms Associate 38203692
Stomach Diseases Associate 31034158
Stomach Neoplasms Associate 31034158