Hs00425307_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136365228 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 64170
• Gene Name: caspase recruitment domain family member 9
• Gene Aliases: CANDF2, hCARD9
• Location: Chr.9:136363956-136373681 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CARD9	NM_052813.4			NP_434700.2
	NM_052814.3			NP_434701.1
	AF311287.1			AAG28790.1
	AK024001.1			BAB14766.1
	AK127481.1	4	3384
	AK292081.1
	BC008877.2			AAH08877.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv615962	Chr.9:136340055 - 136366634 on Build GRCh38	Loss	CARD9 GPSM1 DNLZ
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	CARD9 SEC16A GPSM1 SDCCAG3 SNAPC4 DNLZ PMPCA INPP5E
nsv6764	Chr.9:136342675 - 136387661 on Build GRCh38	Deletion	CARD9 GPSM1 SNAPC4 DNLZ
nsv1046074	Chr.9:136228197 - 136393924 on Build GRCh38	Gain	QSOX2 CARD9 ESP33 GPSM1 SNAPC4 DNLZ LOC101928722 CCDC187 DKFZP434A062
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	LCN10 SNORA17B FBXW5 FAM69B LRRC26 DNLZ MIR4292 C9orf139 LINC01451 RABL6 MIR4673 SAPCD2 SNAPC4 LCN8 EDF1 HSPC324 MAMDC4 LCN6 SEC16A ENTPD2 C9orf172 TMEM141 C9orf142 PHPT1 TRAF2 MIR3621 CCDC183-AS1 NPDC1 UAP1L1 LCNL1 MIR4674 MIR126 FUT7 PTGDS CARD9 EGFL7 C8G PRR31 GRIN1 LOC100128593 INPP5E CCDC183 MIR4479 LCN15 AGPAT2 MIR6722 MAN1B1 NOTCH1 MAN1B1-AS1 SNORA17A SDCCAG3 ABCA2 C9orf163 LOC101930307 NALT1 TMEM210 SNHG7 DPP7 CLIC3 PMPCA LCN12
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	LCN10 SNORA17B CARD9 EGFL7 FAM69B GPSM1 LOC100128593 DNLZ MIR4292 LINC01451 INPP5E RABL6 MIR4673 CCDC183 MIR4479 LCN15 AGPAT2 SNAPC4 MIR6722 NOTCH1 LCN8 EDF1 HSPC324 SNORA17A MAMDC4 LCN6 SEC16A SDCCAG3 C9orf163 C9orf172 TMEM141 PHPT1 NALT1 SNHG7 TRAF2 CCDC183-AS1 PMPCA MIR4674 MIR126
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	NACC2 C9orf69 CARD9 SEC16A GPSM1 SDCCAG3 DNLZ UBAC1 INPP5E DKFZP434A062 C9orf163 LOC107987142 LOC105376323 QSOX2 LHX3 ESP33 CAMSAP1 SNAPC4 PMPCA NOTCH1 LOC101928722 CCDC187
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	NACC2 CARD9 GPSM1 DNLZ UBAC1 KCNT1 INPP5E LOC107987142 MIR4673 LOC105376323 ESP33 SNAPC4 NOTCH1 LOC101928722 CCDC187 C9orf69 SEC16A SDCCAG3 DKFZP434A062 C9orf163 QSOX2 NALT1 LHX3 CAMSAP1 PMPCA MIR4674

More Information

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

Gene Ontology Categories:

Process(es)

stimulatory C-type lectin receptor signaling pathway
I-kappaB kinase/NF-kappaB signaling
response to fungus
response to peptidoglycan
response to muramyl dipeptide
positive regulation of interleukin-6 production
positive regulation of tumor necrosis factor production
positive regulation of stress-activated MAPK cascade
response to drug
regulation of tumor necrosis factor biosynthetic process
regulation of apoptotic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
response to exogenous dsRNA
regulation of interleukin-2 biosynthetic process
innate immune response
regulation of interleukin-6 biosynthetic process
positive regulation of JNK cascade
defense response to Gram-positive bacterium
defense response to virus

Function(s)

protein binding
protein homodimerization activity
CARD domain binding