GenTIGSA Gene Database on Rare Genetic Disorders

MICAL like 2 (MICALL2) Associated conditions:  1. Joubert syndrome 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 136 reference articles

Variant Information MICAL like 2 (MICALL2) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns

GO Term of MICAL like 2 (MICALL2)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIEAcolocalizes_withstress fiberComponent- 
2Homo sapiensISScolocalizes_withstress fiberComponent- 
3Homo sapiensIPIenablesprotein bindingFunction25416956 31515488 32296183 
4Homo sapiensIEAlocated_incytoskeletonComponent- 
5Homo sapiensIBAis_active_inplasma membraneComponent- 
6Homo sapiensIEAlocated_inplasma membraneComponent- 
7Homo sapiensISSlocated_inplasma membraneComponent- 
8Homo sapiensIEAlocated_incell-cell junctionComponent- 
9Homo sapiensISSlocated_incell-cell junctionComponent- 
10Homo sapiensIEAlocated_inbicellular tight junctionComponent- 
11Homo sapiensISSlocated_inbicellular tight junctionComponent- 
12Homo sapiensIBAinvolved_inactin cytoskeleton organizationProcess- 
13Homo sapiensIEAinvolved_inactin cytoskeleton organizationProcess- 
14Homo sapiensISSinvolved_inactin cytoskeleton organizationProcess- 
15Homo sapiensIEAinvolved_inactin filament polymerizationProcess- 
16Homo sapiensISSinvolved_inactin filament polymerizationProcess- 
17Homo sapiensIDAenablesfilamin bindingFunction23890175 
18Homo sapiensIEAenablesfilamin bindingFunction- 
19Homo sapiensIEAinvolved_inneuron projection developmentProcess- 
20Homo sapiensISSinvolved_inneuron projection developmentProcess- 
21Homo sapiensIBAenablessmall GTPase bindingFunction- 
22Homo sapiensIEAenablessmall GTPase bindingFunction- 
23Homo sapiensIEAlocated_inactin filament bundleComponent- 
24Homo sapiensISScolocalizes_withactin filament bundleComponent- 
25Homo sapiensIBAinvolved_inendocytic recyclingProcess- 
26Homo sapiensISSinvolved_inendocytic recyclingProcess- 
27Homo sapiensIEAinvolved_inRab protein signal transductionProcess- 
28Homo sapiensIEAinvolved_insubstrate adhesion-dependent cell spreadingProcess- 
29Homo sapiensISSinvolved_insubstrate adhesion-dependent cell spreadingProcess- 
30Homo sapiensIEAenablesactinin bindingFunction- 
31Homo sapiensIEAlocated_incell projectionComponent- 
32Homo sapiensISSlocated_inneuron projectionComponent- 
33Homo sapiensIEAenablesmetal ion bindingFunction- 
34Homo sapiensIBAenablesactin filament bindingFunction- 
35Homo sapiensIEAenablesactin filament bindingFunction- 
36Homo sapiensISSenablesactin filament bindingFunction- 
37Homo sapiensIEAlocated_inrecycling endosomeComponent- 
38Homo sapiensISSlocated_inrecycling endosomeComponent- 
39Homo sapiensIEAinvolved_inbicellular tight junction assemblyProcess- 
40Homo sapiensISSinvolved_inbicellular tight junction assemblyProcess- 
41Homo sapiensIEAinvolved_inendosome membrane tubulationProcess- 
42Homo sapiensHMPinvolved_inpositive regulation of protein localization to mitochondrionProcess24270810