MICALL2 (MICAL like 2)

Gene

• Entrez ID: 79778
• Gene name: MICAL like 2
• Gene symbol: MICALL2
• Synonyms (NCBI Gene): JRAB, MICAL-L2
• Chromosome: 7
• Chromosome location: 7p22.3

SNPs

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)

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
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0016020	Component	Membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030041	Process	Actin filament polymerization	IEA
GO:0030041	Process	Actin filament polymerization	ISS
GO:0031005	Function	Filamin binding	IDA	23890175
GO:0031005	Function	Filamin binding	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0031267	Function	Small GTPase binding	IEA
GO:0032432	Component	Actin filament bundle	IEA
GO:0032432	Component	Actin filament bundle	ISS
GO:0032456	Process	Endocytic recycling	IEA
GO:0032456	Process	Endocytic recycling	ISS
GO:0032482	Process	Rab protein signal transduction	IEA
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IEA
GO:0034446	Process	Substrate adhesion-dependent cell spreading	ISS
GO:0042805	Function	Actinin binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS
GO:0055037	Component	Recycling endosome	IEA
GO:0055037	Component	Recycling endosome	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IEA
GO:0070830	Process	Bicellular tight junction assembly	ISS
GO:0097750	Process	Endosome membrane tubulation	IEA
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810

Other IDs

• MIM: 620912
• HGNC: 29672
• e!Ensembl: ENSG00000164877

Protein

• UniProt ID: 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

Pathways

KEGG:

Tight junction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Joubert syndrome 1	Pathogenic	rs556808514	RCV000416431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUCHENNE MUSCULAR DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28416812		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25864591		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35501725	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36307841	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30894197	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30894197	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	31545351		★☆☆☆☆ Found in Text Mining only
Joubert syndrome 1	Joubert Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25864591		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25864591		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28416812		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25864591		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	38203692	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	31034158	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31034158	Associate	★☆☆☆☆ Found in Text Mining only