Hs02187895_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136364490 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 12 - Exon 12

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

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