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Aliases for MICALL2 Gene

Aliases for MICALL2 Gene

  • MICAL Like 2 2 3 5
  • Junctional Rab13-Binding Protein 2 3 4
  • Molecule Interacting With CasL-Like 2 3 4
  • MICAL-L2 3 4
  • JRAB 3 4
  • MICAL-Like Protein 2 3

External Ids for MICALL2 Gene

Summaries for MICALL2 Gene

GeneCards Summary for MICALL2 Gene

MICALL2 (MICAL Like 2) is a Protein Coding gene. Diseases associated with MICALL2 include Joubert Syndrome 1. Among its related pathways are Tight junction. Gene Ontology (GO) annotations related to this gene include actin filament binding and filamin binding. An important paralog of this gene is MICALL1.

UniProtKB/Swiss-Prot for MICALL2 Gene

  • 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 (By similarity).

Additional gene information for MICALL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MICALL2 Gene

Genomics for MICALL2 Gene

GeneHancer (GH) Regulatory Elements for MICALL2 Gene

Promoters and enhancers for MICALL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I001456 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 -1.0 -955 7.2 HDGF SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 POLR2B ZNF766 CBX5 MICALL2 ENSG00000225981 INTS1 DNAAF5 SUN1 CHST12 EIF3B MRM2 MAFK ENSG00000273230
GH07I001512 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.2 -55.8 -55809 6.2 PKNOX1 ATF1 FOXA2 ARID4B ZNF48 ETS1 ZNF121 FOS SP5 MIER2 INTS1 TMEM184A MAFK MICALL2 ZFAND2A ENSG00000231927
GH07I001553 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 4.5 -98.0 -98021 7.5 FOXA2 PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF143 TMEM184A INTS1 PSMG3-AS1 MICALL2 PIR48186
GH07I001417 Enhancer 1 Ensembl ENCODE 7.5 +41.8 41791 0.6 HDGF NFRKB BATF IRF4 ZNF766 EGR1 ATF7 FOS BCLAF1 IKZF2 CHST12 MICALL2 ENSG00000233082
GH07I002279 Enhancer 1 Ensembl ENCODE 6.6 -821.6 -821641 3.7 HDAC1 TCF12 GATA2 EGR1 CREM ZNF148 GMEB1 KLF16 SMARCA4 MYNN SNX8 MICALL2 IMMP1LP3 GC07P002270
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MICALL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MICALL2 gene promoter:

Genomic Locations for MICALL2 Gene

Genomic Locations for MICALL2 Gene
chr7:1,428,465-1,459,502
(GRCh38/hg38)
Size:
31,038 bases
Orientation:
Minus strand
chr7:1,468,101-1,499,138
(GRCh37/hg19)

Genomic View for MICALL2 Gene

Genes around MICALL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MICALL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MICALL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MICALL2 Gene

Proteins for MICALL2 Gene

  • Protein details for MICALL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY33-MILK2_HUMAN
    Recommended name:
    MICAL-like protein 2
    Protein Accession:
    Q8IY33
    Secondary Accessions:
    • D3YTD2
    • Q7RTP4
    • Q7Z655
    • Q8TEQ4
    • Q9H5F9

    Protein attributes for MICALL2 Gene

    Size:
    904 amino acids
    Molecular mass:
    97502 Da
    Quaternary structure:
    • 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 (By similarity). Interacts with RAB8B (By similarity). Interacts (preferentially in opened conformation) with ACTN1 and ACTN4; stimulated by RAB13 activation (By similarity). Interacts (via calponin-homology (CH) domain) with the filamins FLNA, FLNB and FLNC (via actin-binding domain).
    SequenceCaution:
    • Sequence=BAB15667.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB84894.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MICALL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MICALL2 Gene

Post-translational modifications for MICALL2 Gene

No Post-translational modifications

Other Protein References for MICALL2 Gene

No data available for DME Specific Peptides for MICALL2 Gene

Domains & Families for MICALL2 Gene

Gene Families for MICALL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MICALL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IY33

UniProtKB/Swiss-Prot:

MILK2_HUMAN :
  • Probably exists in a closed and an opened 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 (By similarity).
Domain:
  • Probably exists in a closed and an opened 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 (By similarity).
genes like me logo Genes that share domains with MICALL2: view

Function for MICALL2 Gene

Molecular function for MICALL2 Gene

UniProtKB/Swiss-Prot 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 (By similarity).

Phenotypes From GWAS Catalog for MICALL2 Gene

Gene Ontology (GO) - Molecular Function for MICALL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0017137 Rab GTPase binding IEA --
GO:0031005 filamin binding IEA,IDA 23890175
GO:0042805 actinin binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MICALL2: view
genes like me logo Genes that share phenotypes with MICALL2: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MICALL2 Gene

Localization for MICALL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MICALL2 Gene

Cell membrane; Peripheral membrane protein. Cell junction, tight junction. Recycling endosome. Cell projection. Cytoplasm, cytoskeleton. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MICALL2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
nucleus 4
cytosol 4
endosome 4

Gene Ontology (GO) - Cellular Components for MICALL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 colocalizes_with stress fiber ISS --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with MICALL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MICALL2 Gene

Pathways & Interactions for MICALL2 Gene

SuperPathways for MICALL2 Gene

SuperPathway Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with MICALL2: view

Pathways by source for MICALL2 Gene

1 KEGG pathway for MICALL2 Gene

Gene Ontology (GO) - Biological Process for MICALL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030041 actin filament polymerization ISS,IEA --
GO:0031175 neuron projection development IEA,ISS --
GO:0031532 actin cytoskeleton reorganization ISS,IEA --
GO:0032456 endocytic recycling ISS --
GO:0034446 substrate adhesion-dependent cell spreading ISS,IEA --
genes like me logo Genes that share ontologies with MICALL2: view

No data available for SIGNOR curated interactions for MICALL2 Gene

Drugs & Compounds for MICALL2 Gene

No Compound Related Data Available

Transcripts for MICALL2 Gene

Unigene Clusters for MICALL2 Gene

MICAL-like 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MICALL2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: - -
SP6: - -
SP7:

Relevant External Links for MICALL2 Gene

GeneLoc Exon Structure for
MICALL2
ECgene alternative splicing isoforms for
MICALL2

Expression for MICALL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MICALL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MICALL2 Gene

This gene is overexpressed in Nerve - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for MICALL2 Gene

This gene is overexpressed in Pancreas (52.4) and Peripheral blood mononuclear cells (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MICALL2 Gene



Protein tissue co-expression partners for MICALL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MICALL2 Gene:

MICALL2

SOURCE GeneReport for Unigene cluster for MICALL2 Gene:

Hs.376617

Evidence on tissue expression from TISSUES for MICALL2 Gene

  • Spleen(4.3)
  • Intestine(4.2)
  • Lymph node(4.2)
  • Nervous system(4.2)
  • Blood(4.1)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with MICALL2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MICALL2 Gene

Orthologs for MICALL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MICALL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MICALL2 33 34
  • 74.8 (n)
dog
(Canis familiaris)
Mammalia MICALL2 33 34
  • 74.16 (n)
rat
(Rattus norvegicus)
Mammalia Micall2 33
  • 71.51 (n)
mouse
(Mus musculus)
Mammalia Micall2 33 16 34
  • 70.29 (n)
oppossum
(Monodelphis domestica)
Mammalia MICALL2 34
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MICALL2 34
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves MICALL2 33 34
  • 60.5 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia micall2 33
  • 52.11 (n)
zebrafish
(Danio rerio)
Actinopterygii micall2a 34
  • 37 (a)
OneToMany
micall2b 34
  • 36 (a)
OneToMany
MICALL2 (3 of 3) 34
  • 6 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG13366 34
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3677 34
  • 7 (a)
OneToMany
Species where no ortholog for MICALL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MICALL2 Gene

ENSEMBL:
Gene Tree for MICALL2 (if available)
TreeFam:
Gene Tree for MICALL2 (if available)

Paralogs for MICALL2 Gene

(2) SIMAP similar genes for MICALL2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MICALL2: view

Variants for MICALL2 Gene

Sequence variations from dbSNP and Humsavar for MICALL2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs556808514 pathogenic, Joubert syndrome 1 1,445,219(-) G/A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000038642 -- 1,438,597(-) C/T 3_prime_UTR_variant, intron_variant
rs1000059251 -- 1,457,924(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000103978 -- 1,435,821(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000132250 -- 1,458,300(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MICALL2 Gene

Variant ID Type Subtype PubMed ID
nsv950786 CNV deletion 24416366
nsv830878 CNV loss 17160897
nsv823970 CNV gain 20364138
nsv8029 CNV gain+loss 18304495
nsv605817 CNV loss 21841781
nsv605816 CNV loss 21841781
nsv605813 CNV loss 21841781
nsv521100 CNV loss 19592680
nsv471182 CNV loss 18288195
nsv464247 CNV loss 19166990
nsv1126768 CNV deletion 24896259
nsv1074058 CNV deletion 25765185
nsv1017606 CNV loss 25217958
esv3611808 CNV loss 21293372
esv3541026 CNV deletion 23714750
esv3330014 CNV duplication 20981092
esv2759499 CNV loss 17122850
esv2733763 CNV deletion 23290073
esv2672441 CNV deletion 23128226
dgv11135n54 CNV loss 21841781

Variation tolerance for MICALL2 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MICALL2 Gene

Human Gene Mutation Database (HGMD)
MICALL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MICALL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MICALL2 Gene

Disorders for MICALL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MICALL2 Gene - From: ClinVar

Disorder Aliases PubMed IDs
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MICALL2

genes like me logo Genes that share disorders with MICALL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MICALL2 Gene

Publications for MICALL2 Gene

  1. JRAB/MICAL-L2 is a junctional Rab13-binding protein mediating the endocytic recycling of occludin. (PMID: 16525024) Terai T … Sasaki T (Molecular biology of the cell 2006) 2 3 4 58
  2. MICALs, a family of conserved flavoprotein oxidoreductases, function in plexin-mediated axonal repulsion. (PMID: 12110185) Terman JR … Kolodkin AL (Cell 2002) 2 3 4 58
  3. Junctional Rab13-binding protein (JRAB) regulates cell spreading via filamins. (PMID: 23890175) Sakane A … Sasaki T (Genes to cells : devoted to molecular & cellular mechanisms 2013) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for MICALL2 Gene

Sources for MICALL2 Gene

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