ADHDgene Database

Gene Report

Basic Info

Approved Symbol	MRPL40
Previous Symbol	NLVCF
Symbol Alias	MRP-L22
Approved Name	mitochondrial ribosomal protein L40
Previous Name	nuclear localization signal deleted in velocardiofacial syndrome
Location	22q11.2
Position	chr22:19419425-19423598, +
External Links	HGNC: 14491 Entrez Gene: 64976 Ensembl: ENSG00000185608 UCSC: uc002zpg.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_41	chr22:17616020-19792353 (NCBI36 / hg18)	2176334	22q11.21	dup
CNV_Jarick[2012]_40	chr22:17257787-19792353 (NCBI36 / hg18)	2534567	22q11.21	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005761	mitochondrial ribosome	Cellular Component		7
GO:0009653	anatomical structure morphogenesis	Biological Process	TAS[9790763]	26
GO:0003674	molecular_function	Molecular Function		126
GO:0005634	nucleus	Cellular Component	TAS[9790763]	770

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with MRPL40 (count: 0)

Genes shared at least 2 KEGG pathways with MRPL40 (count: 0)

View in gBrowse

Region: chr22:19419425..19423598 View in gBrowse