Hs07536035_cn

• Gene Symbol: SPATA22
• Assay Reference Genome Location: Chr.17:3512272 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	4343	NP_001245134.1
	NM_145068.3	18	4340	NP_659505.1
	AK127330.1	6	2339
	AK127726.1	12	3292
	BX537539.1	12	3280

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

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