Evidence Details for KCND2

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Basic Information Top

Gene Symbol:	KCND2 ( KIAA1044,KV4.2,MGC119702,MGC119703,RK5 )
Gene Full Name:	potassium voltage-gated channel, Shal-related subfamily, member 2
Band:	7q31.31
Quick Links	Entrez ID:3751; OMIM: 605410; Uniprot ID:KCND2_HUMAN; ENSEMBL ID: ENSG00000184408; HGNC ID: 6238
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>KCND2|3751|nucleotide
ATGGCGGCGGGGGTGGCAGCGTGGCTGCCTTTTGCAAGGGCAGCGGCTATCGGGTGGATGCCTGTGGCCTCGGGGCCTATGCCGGCTCCCCCGAGGCAGGAGAGG
AAAAGGACCCAAGATGCTCTCATTGTGCTGAATGTGAGTGGCACCCGCTTCCAGACGTGGCAGGACACCCTGGAACGTTACCCAGACACTCTACTGGGCAGTTCT
GAGAGGGACTTTTTCTACCACCCAGAAACTCAGCAGTATTTCTTTGACCGTGACCCAGACATCTTCCGCCACATCCTGAATTTCTACCGCACTGGGAAGCTCCAC
TATCCTCGCCACGAGTGCATCTCTGCTTACGATGAAGAACTGGCCTTCTTTGGCCTCATCCCGGAAATCATCGGCGACTGCTGTTATGAGGAGTACAAGGATCGC
AGGCGAGAGAACGCCGAGCGCCTGCAGGACGACGCGGATACCGACACCGCTGGGGAGAGCGCCTTGCCCACCATGACTGCAAGGCAGAGGGTCTGGAGGGCCTTC
GAGAACCCCCACACCAGCACGATGGCCCTGGTGTTCTACTATGTCACGGGGTTTTTCATTGCCGTCTCTGTCATCGCGAATGTGGTGGAAACAGTGCCGTGCGGA
TCAAGCCCAGGTCACATTAAAGAACTGCCCTGTGGAGAGCGGTATGCTGTGGCCTTCTTCTGCTTGGACACGGCCTGCGTCATGATCTTCACAGTTGAGTATTTG
CTTCGCCTGGCTGCAGCGCCTAGTCGTTACCGTTTTGTGCGTAGTGTCATGAGTATCATCGACGTGGTGGCCATCCTGCCTTATTACATTGGGCTGGTGATGACA
GACAATGAGGACGTCAGCGGAGCCTTTGTCACACTCCGAGTCTTCCGGGTCTTCAGGATCTTTAAGTTTTCCCGCCACTCTCAAGGCCTGCGCATCCTGGGGTAC
ACACTGAAGAGTTGTGCCTCAGAATTGGGCTTCTTGCTTTTCTCGCTCACCATGGCTATCATCATCTTCGCTACAGTTATGTTCTACGCAGAGAAGGGGTCTTCG
GCTAGCAAGTTCACCAGCATCCCTGCAGCCTTCTGGTATACCATCGTCACCATGACAACACTAGGGTATGGTGACATGGTGCCAAAAACCATAGCAGGGAAGATT
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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
Score (No. of Studies)	No	1 (1)	0 (3)	1 (1)	0 (0)	0 (0)	1 (3)	0 (0)	0 (0)	0 (0)	16 (8)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 0

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
No Evidence.

Case Control Based Association Studies: 1

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Maestrini, 2009_5	Discovery	GoldenGate assay (Illumina, San Diego, CA, USA)	127 (20.47%)			ASD	- -	-	188 (21.28%)	- -

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Okamoto, 2011	Japan	-			ASD	-	-	-	-	1	-	1
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for KCND2