Hs02400386_cn

• Gene Symbol: CARD9
• Assay Reference Genome Location: Chr.9:136366811 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 9 - Intron 10

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
nsv831760	Chr.9:136366430 - 136480358 on Build GRCh38	Loss	SNAPC4 CARD9 INPP5E SEC16A PMPCA SDCCAG3
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	DNLZ SNAPC4 CARD9 INPP5E SEC16A GPSM1 PMPCA SDCCAG3
nsv6764	Chr.9:136342675 - 136387661 on Build GRCh38	Deletion	DNLZ SNAPC4 CARD9 GPSM1
nsv1046074	Chr.9:136228197 - 136393924 on Build GRCh38	Gain	LOC101928722 DNLZ SNAPC4 QSOX2 ESP33 DKFZP434A062 CARD9 GPSM1 CCDC187
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	NALT1 SNAPC4 UAP1L1 LCN10 C9orf172 TRAF2 C8G LCN15 LRRC26 LCNL1 FBXW5 LCN12 C9orf139 MAMDC4 SEC16A HSPC324 LCN6 DNLZ MIR4673 MIR4292 FAM69B INPP5E PRR31 SNORA17B CLIC3 LOC101930307 LCN8 MAN1B1-AS1 PHPT1 PTGDS ABCA2 GRIN1 MIR4674 TMEM141 LOC100128593 EDF1 MIR6722 SNORA17A NOTCH1 MIR126 ENTPD2 MIR3621 FUT7 MIR4479 TMEM210 CCDC183-AS1 PMPCA DPP7 NPDC1 CARD9 EGFL7 MAN1B1 AGPAT2 SDCCAG3 C9orf142 SNHG7 C9orf163 CCDC183 SAPCD2 LINC01451 RABL6
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	MIR6722 NALT1 SNAPC4 SNORA17A NOTCH1 MIR126 LCN10 C9orf172 MIR4479 GPSM1 TRAF2 LCN15 MAMDC4 SEC16A HSPC324 LCN6 CCDC183-AS1 PMPCA DNLZ MIR4673 MIR4292 FAM69B CARD9 INPP5E EGFL7 SNORA17B AGPAT2 LCN8 SDCCAG3 SNHG7 PHPT1 C9orf163 CCDC183 MIR4674 TMEM141 LINC01451 LOC100128593 RABL6 EDF1
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	DNLZ SNAPC4 QSOX2 NACC2 NOTCH1 CARD9 INPP5E GPSM1 LOC105376323 SDCCAG3 CAMSAP1 CCDC187 LOC107987142 LOC101928722 C9orf163 ESP33 C9orf69 DKFZP434A062 LHX3 SEC16A UBAC1 PMPCA
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	NALT1 SNAPC4 QSOX2 KCNT1 NOTCH1 GPSM1 CAMSAP1 CCDC187 ESP33 LHX3 SEC16A UBAC1 PMPCA DNLZ MIR4673 NACC2 CARD9 INPP5E LOC105376323 SDCCAG3 LOC107987142 LOC101928722 C9orf163 C9orf69 DKFZP434A062 MIR4674

More Information

• Set Membership: Intragenic, Intronic, 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