Hs03705321_cn

• Gene Symbol: PMPCA
• Assay Reference Genome Location: Chr.9:136415404 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 23203
• Gene Name: peptidase, mitochondrial processing alpha subunit
• Gene Aliases: Alpha-MPP, INPP5E, P-55, SCAR2
• Location: Chr.9:136410573-136423761 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PMPCA	NM_001282944.1			NP_001269873.1
	NM_001282946.1			NP_001269875.1
	NM_015160.2			NP_055975.1
	XM_005266059.4			XP_005266116.1
	XM_011518417.2			XP_011516719.1
	XM_017014543.1			XP_016870032.1
	AK296617.1
	AK299304.1
	AK307206.1
	AK308104.1
	BC022949.1			AAH22949.1
	BC033103.1			AAH33103.2
	BC111399.1
	BC132724.1
	BC136599.1
	D21064.1			BAA04643.1
	D50913.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv831760	Chr.9:136366430 - 136480358 on Build GRCh38	Loss	SDCCAG3 SNAPC4 CARD9 INPP5E PMPCA SEC16A
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	GPSM1 SDCCAG3 SNAPC4 CARD9 DNLZ INPP5E PMPCA SEC16A
nsv6766	Chr.9:136414215 - 136448876 on Build GRCh38	Insertion	INPP5E PMPCA SEC16A
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	LCNL1 CCDC183 ABCA2 PRR31 NALT1 CCDC183-AS1 FBXW5 MIR4674 CARD9 NPDC1 MAN1B1-AS1 TMEM210 C8G PMPCA FAM69B RABL6 LCN12 FUT7 MIR3621 NOTCH1 LCN10 LCN6 DNLZ LCN8 SAPCD2 LRRC26 MIR6722 SDCCAG3 PHPT1 LOC101930307 CLIC3 SNHG7 MIR4673 INPP5E GRIN1 AGPAT2 TRAF2 PTGDS SNORA17B C9orf163 LINC01451 MIR4479 LOC100128593 EGFL7 MIR4292 MIR126 LCN15 SNAPC4 C9orf139 UAP1L1 TMEM141 ENTPD2 C9orf142 HSPC324 SEC16A MAN1B1 EDF1 DPP7 MAMDC4 C9orf172 SNORA17A
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	GPSM1 MIR6722 SDCCAG3 PHPT1 CCDC183 NALT1 CCDC183-AS1 SNHG7 MIR4673 INPP5E AGPAT2 TRAF2 SNORA17B MIR4674 C9orf163 LINC01451 CARD9 MIR4479 LOC100128593 EGFL7 MIR4292 MIR126 LCN15 PMPCA FAM69B SNAPC4 RABL6 TMEM141 NOTCH1 HSPC324 SEC16A LCN10 LCN6 EDF1 DNLZ MAMDC4 LCN8 C9orf172 SNORA17A
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	QSOX2 GPSM1 SDCCAG3 SNAPC4 NACC2 UBAC1 INPP5E NOTCH1 DKFZP434A062 LHX3 SEC16A C9orf69 LOC101928722 C9orf163 CCDC187 CARD9 LOC107987142 LOC105376323 ESP33 DNLZ CAMSAP1 PMPCA
nsv615963	Chr.9:136386314 - 136474501 on Build GRCh38	Loss	SDCCAG3 SNAPC4 INPP5E PMPCA SEC16A
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	GPSM1 SDCCAG3 NACC2 KCNT1 NALT1 UBAC1 MIR4673 INPP5E C9orf69 MIR4674 C9orf163 CARD9 LOC105376323 ESP33 CAMSAP1 PMPCA QSOX2 SNAPC4 NOTCH1 DKFZP434A062 LHX3 SEC16A LOC101928722 CCDC187 LOC107987142 DNLZ

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

proteolysis
protein processing involved in protein targeting to mitochondrion

Function(s)

metalloendopeptidase activity
zinc ion binding