Hs03935499_cn

• Gene Symbol: AMDHD2
• Assay Reference Genome Location: Chr.16:2526374 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 51005
• Gene Name: amidohydrolase domain containing 2
• Gene Aliases: CGI-14
• Location: Chr.16:2520351-2531414 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMDHD2	NM_001145815.1			NP_001139287.1
	NM_015944.3			NP_057028.2
	XM_017023262.1			XP_016878751.1
	XM_017023263.1			XP_016878752.1
	XM_017023264.1			XP_016878753.1
	XM_017023265.1			XP_016878754.1
	XM_017023266.1			XP_016878755.1
	XM_017023267.1			XP_016878756.1
	AB209351.1			BAD92588.1
	AF132948.1			AAD27723.1
	AK296877.1
	AK300747.1
	BC018734.1			AAH18734.1
	CN362870.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	NUBP2 MIR3180-5 HN1L SNORA64 NTHL1 NHLRC4 C1QTNF8 LOC105371046 MIR4717 C16orf59 MIR940 FAM173A LOC106660606 LOC105371038 MPG MLST8 PKD1 PDPK1 NPW RPL3L TSC2 WFIKKN1 DNASE1L2 METRN MIR6511B1 MIR5587 CASKIN1 RAB11FIP3 TPSAB1 LOC105371184 CRAMP1 FLJ42627 MSLN NPRL3 NARFL TPSG1 GNPTG BRICD5 SNORA78 NOXO1 UBE2I TMEM204 CCDC154 MRPS34 LMF1-AS1 LOC105371045 RPL23AP5 TSR3 MSRB1 ECI1 RNF151 PGP MEIOB SNORA10 PRSS27 CHTF18 UNKL TMEM8A C16orf91 RPUSD1 PRR35 CCDC78 NDUFB10 LUC7L ARHGDIG IFT140 DECR2 BAIAP3 LOC100287175 MIR1225 ATP6V0C LOC107984876 PIGQ RAB40C LOC101929280 RHBDF1 HBA2 MIR3177 SSTR5 TPSB2 LOC107987233 RPS2 RAB26 AMDHD2 TBC1D24 TPSD1 SNORD60 IGFALS DDX11L10 JMJD8 MAPK8IP3 PRR25 SLC9A3R2 FBXL16 ZNF598 SPSB3 CACNA1H LOC105371047 TELO2 LOC729652 HS3ST6 PRSS29P NME3 SNRNP25 GNG13 STUB1 AXIN1 FAM234A MIR3176 SOX8 HBA1 GFER ERVK13-1 MIR3677 WDR24 KCTD5 LOC100134368 E4F1 ABCA17P FAHD1 LINC00235 CLCN7 CEMP1 CAPN15 POLR3K HAGH CCNF ABCA3 NME4 MIR3178 SSTR5-AS1 MIR4516 EME2 HBZ WASIR2 HBQ1 HBM MIR662 RNPS1 MIR6768 TRAF7 METTL26 NTN3 SNHG19 LMF1 PTX4 SYNGR3 RHBDL1 RHOT2 HAGHL MIR6859-4 LINC00254 MCRIP2 LOC652276 MIR6767 WDR90 PDIA2 RGS11 LOC105371049 TBL3 MRPL28 SNHG9
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	ERVK13-1 PRSS41 AMDHD2 TBC1D24 KCTD5 MIR3178 FLJ42627 PRSS33 ATP6V0C PRSS21 LOC652276 CEMP1 TCEB2 PRSS27 PDPK1 SRRM2-AS1 SRRM2
nsv833122	Chr.16:2501717 - 2663937 on Build GRCh38	Loss	ATP6V0C ERVK13-1 AMDHD2 LOC652276 TBC1D24 CEMP1 PDPK1 MIR3178 FLJ42627
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	AMDHD2 ABCA3 MIR3180-5 TBC1D24 SNORD60 ECI1 MIR4717 PGP MIR3178 C16orf59 MIR4516 MIR940 LOC106660606 LOC729652 RNPS1 MIR6768 TRAF7 MLST8 PKD1 PDPK1 TSC2 DNASE1L2 NTN3 MIR6511B1 SNHG19 MIR3677 CASKIN1 E4F1 ABCA17P MIR1225 ATP6V0C LOC652276 CEMP1 BRICD5 MIR6767 CCNF LOC105371049 RAB26

More Information

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

Panther Classification:

Molecular Function -

deacetylase, hydrolase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
N-acetylglucosamine catabolic process
UDP-N-acetylglucosamine biosynthetic process
N-acetylneuraminate catabolic process

Function(s)

protein binding
N-acetylglucosamine-6-phosphate deacetylase activity
metal ion binding