AutismKB 2.0

Evidence Details for MICAL2


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Basic Information Top
Gene Symbol:MICAL2 ( DKFZp686H03148,DKFZp686H2469,KIAA0750,MICAL2PV1,MICAL2PV2 )
Gene Full Name: microtubule associated monoxygenase, calponin and LIM domain containing 2
Band: 11p15.3
Quick LinksEntrez 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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>MICAL2|9645|protein
MGENEDEKQAQAGQVFENFVQASTCKGTLQAFNILTRHLDLDPLDHRNFYSKLKSKVTTWKAKALWYKLDKRGSHKEYKRGKSCTNTKCLIVGGGPCGLRTAIEL
AYLGAKVVVVEKRDSFSRNNVLHLWPFTIHDLRGLGAKKFYGKFCAGSIDHISIRQLQLILFKVALMLGVEIHVNVEFVKVLEPPEDQENQKIGWRAEFLPTDHS
LSEFEFDVIIGADGRRNTLEGFRRKEFRGKLAIAITANFINRNSTAEAKVEEISGVAFIFNQKFFQDLKEETGIDLENIVYYKDCTHYFVMTAKKQSLLDKGVII
NDYIDTEMLLCAENVNQDNLLSYAREAADFATNYQLPSLDFAMNHYGQPDVAMFDFTCMYASENAALVRERQAHQLLVALVGDSLLEPFWPMGTGCARGFLAAFD
TAWMVKSWNQGTPPLELLAERESLYRLLPQTTPENINKNFEQYTLDPGTRYPNLNSHCVRPHQVKHLYITKELEHYPLERLGSVRRSVNLSRKESDIRPSKLLTW
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
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