Hs07536040_cn

• Gene Symbol: SPATA22
• Assay Reference Genome Location: Chr.17:3511531 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 84690
• Gene Name: spermatogenesis associated 22
• Gene Aliases: NYD-SP20, NYDSP20
• Location: Chr.17:3440011-3513852 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATA22	NM_001321336.1			NP_001308265.1
	NM_001321337.1			NP_001308266.1
	AK295299.1

Target Gene Details

• Entrez Gene ID: 162514
• Gene Name: transient receptor potential cation channel subfamily V member 3
• Gene Aliases: FNEPPK2, OLMS, VRL3
• Location: Chr.17:3510502-3557995 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRPV3	NM_001258205.1	18	5084	NP_001245134.1
	NM_145068.3	18	5081	NP_659505.1
	AK127330.1	6	3080
	AK127726.1	12	4033
	BX537539.1	12	4021

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892950	Chr.17:3131812 - 3577153 on Build GRCh38	Loss	OR1E1 OR1E2 TRPV1 OR3A3 ASPA OR1A1 OR1A2 OR3A4P OR3A2 TRPV3 OR1D4 SPATA22 OR3A1
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	OR1E2 CAMKK1 MIR6776 TRPV1 PAFAH1B1 NCBP3 LOC105371591 EMC6 OR1A1 LOC105371592 CLUH OR1A2 OR3A4P OR3A2 OR1D5 MIR1253 P2RX5-TAX1BP3 ATP2A3 OR1D4 CTNS SPATA22 OR1E1 P2RX1 ITGAE OR1D2 OR3A3 ASPA GSG2 P2RX5 SHPK RAP1GAP2 TAX1BP3 TRPV3 OR1G1 LOC101927911 OR3A1 CCDC92B
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	SHPK TRPV1 ITGAE P2RX5-TAX1BP3 TAX1BP3 TRPV3 ASPA EMC6 GSG2 CTNS SPATA22 P2RX5
esv23898	Chr.17:3511464 - 3512895 on Build GRCh38	Gain	TRPV3 SPATA22
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1E1 OR1E2 MIR6776 OR1D2 PAFAH1B1 OR3A3 LOC105371591 ASPA OR1A1 LOC105371592 CLUH OR1A2 OR3A4P OR3A2 OR1D5 RAP1GAP2 MIR1253 TRPV3 OR1D4 OR1G1 LOC101927911 SPATA22 OR3A1 CCDC92B
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	OR1E1 OR1E2 CAMKK1 TRPV1 ITGAE NCBP3 OR3A3 ASPA EMC6 GSG2 P2RX5 SHPK OR3A2 P2RX5-TAX1BP3 TAX1BP3 TRPV3 CTNS SPATA22
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR1E1 OR1E2 OR3A2 TRPV3 OR3A3 ASPA SPATA22
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	OR1E2 SHPK TRPV1 TRPV3 OR3A3 ASPA SPATA22

More Information

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

meiotic DNA repair synthesis
synapsis
gamete generation
fertilization
regulation of meiotic cell cycle
reproductive system development
response to heat
negative regulation of hair cycle
calcium ion transmembrane transport
positive regulation of calcium ion import

Function(s)

protein binding
calcium channel activity