Evidence Details for MICAL2
Basic Information Top
Gene Symbol: | MICAL2 ( DKFZp686H03148,DKFZp686H2469,KIAA0750,MICAL2PV1,MICAL2PV2 ) |
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Gene Full Name: | microtubule associated monoxygenase, calponin and LIM domain containing 2 |
Band: | 11p15.3 |
Quick Links | Entrez ID:9645; OMIM: 608881; Uniprot ID:MICA2_HUMAN; ENSEMBL ID: ENSG00000133816; HGNC ID: 24693 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MICAL2|9645|nucleotide
ATGGGGGAAAACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAGAACTTTGTCCAGGCATCCACGTGCAAAGGTACCCTCCAGGCCTTCAACATTCTC
ACACGACACCTGGACCTAGACCCTCTGGACCACAGAAACTTTTATTCCAAGCTCAAGTCCAAGGTGACCACCTGGAAAGCCAAAGCCCTGTGGTACAAATTGGAT
AAGCGTGGTTCCCACAAAGAGTATAAGCGAGGGAAGTCGTGCACGAACACCAAGTGTCTCATAGTTGGGGGAGGACCCTGTGGCTTGCGCACTGCCATTGAACTT
GCCTACCTGGGAGCCAAAGTGGTCGTGGTGGAGAAGAGGGACTCCTTCTCCCGGAACAACGTGCTACACCTCTGGCCTTTCACCATCCATGACCTTCGGGGCCTG
GGAGCCAAGAAGTTCTATGGGAAGTTCTGTGCTGGCTCCATCGACCATATCAGTATTCGCCAACTACAGCTCATCCTATTCAAGGTGGCCCTGATGCTGGGAGTT
GAAATCCATGTGAATGTGGAGTTCGTGAAGGTTCTAGAGCCTCCTGAAGATCAAGAAAATCAAAAAATTGGCTGGCGGGCAGAATTTCTCCCTACAGACCATTCT
CTGTCGGAGTTTGAGTTTGACGTCATCATTGGTGCCGATGGCCGCAGGAACACCCTGGAAGGGTTCAGAAGAAAAGAATTCCGTGGGAAGCTGGCGATTGCCATC
ACCGCCAACTTCATAAACAGAAACAGCACAGCGGAAGCCAAGGTGGAAGAGATTAGTGGTGTGGCTTTCATCTTCAATCAGAAATTTTTTCAGGACCTTAAAGAA
GAAACAGGCATAGATCTTGAGAACATTGTTTACTACAAGGACTGCACCCACTATTTTGTAATGACAGCCAAGAAGCAGAGCCTGCTCGACAAAGGTGTCATCATT
AACGACTACATCGACACAGAGATGCTGCTGTGTGCGGAGAACGTGAACCAAGACAACCTGCTATCCTATGCCCGGGAAGCTGCAGACTTTGCCACCAACTACCAG
CTGCCATCCTTAGACTTTGCCATGAACCACTATGGGCAGCCTGATGTGGCCATGTTTGACTTTACCTGCATGTATGCCTCAGAGAACGCGGCCCTGGTGCGGGAG
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ATGGGGGAAAACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAGAACTTTGTCCAGGCATCCACGTGCAAAGGTACCCTCCAGGCCTTCAACATTCTC
ACACGACACCTGGACCTAGACCCTCTGGACCACAGAAACTTTTATTCCAAGCTCAAGTCCAAGGTGACCACCTGGAAAGCCAAAGCCCTGTGGTACAAATTGGAT
AAGCGTGGTTCCCACAAAGAGTATAAGCGAGGGAAGTCGTGCACGAACACCAAGTGTCTCATAGTTGGGGGAGGACCCTGTGGCTTGCGCACTGCCATTGAACTT
GCCTACCTGGGAGCCAAAGTGGTCGTGGTGGAGAAGAGGGACTCCTTCTCCCGGAACAACGTGCTACACCTCTGGCCTTTCACCATCCATGACCTTCGGGGCCTG
GGAGCCAAGAAGTTCTATGGGAAGTTCTGTGCTGGCTCCATCGACCATATCAGTATTCGCCAACTACAGCTCATCCTATTCAAGGTGGCCCTGATGCTGGGAGTT
GAAATCCATGTGAATGTGGAGTTCGTGAAGGTTCTAGAGCCTCCTGAAGATCAAGAAAATCAAAAAATTGGCTGGCGGGCAGAATTTCTCCCTACAGACCATTCT
CTGTCGGAGTTTGAGTTTGACGTCATCATTGGTGCCGATGGCCGCAGGAACACCCTGGAAGGGTTCAGAAGAAAAGAATTCCGTGGGAAGCTGGCGATTGCCATC
ACCGCCAACTTCATAAACAGAAACAGCACAGCGGAAGCCAAGGTGGAAGAGATTAGTGGTGTGGCTTTCATCTTCAATCAGAAATTTTTTCAGGACCTTAAAGAA
GAAACAGGCATAGATCTTGAGAACATTGTTTACTACAAGGACTGCACCCACTATTTTGTAATGACAGCCAAGAAGCAGAGCCTGCTCGACAAAGGTGTCATCATT
AACGACTACATCGACACAGAGATGCTGCTGTGTGCGGAGAACGTGAACCAAGACAACCTGCTATCCTATGCCCGGGAAGCTGCAGACTTTGCCACCAACTACCAG
CTGCCATCCTTAGACTTTGCCATGAACCACTATGGGCAGCCTGATGTGGCCATGTTTGACTTTACCTGCATGTATGCCTCAGAGAACGCGGCCCTGGTGCGGGAG
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>MICAL2|9645|protein
MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIEL
AYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHS
LSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVII
NDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFD
TAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTW
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MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIEL
AYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHS
LSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVII
NDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFD
TAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTW
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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Score (No. of Studies) | No | 0 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
CAUCASIAN | |||||||||||
Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ASD | - - |
- - |
Case Control Based Association Studies: 0
Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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