Hs00599254_cn

• Gene Symbol: GRIN3B
• Assay Reference Genome Location: Chr.19:1009653 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 116444
• Gene Name: glutamate ionotropic receptor NMDA type subunit 3B
• Gene Aliases: GluN3B, NR3B
• Location: Chr.19:1000419-1009814 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GRIN3B	NM_138690.2			NP_619635.1
	XM_017026243.1	7	2522	XP_016881732.1
	AY507106.1			AAS87020.1
	AY507107.1			AAS87021.1
	BM977634.1
	CB243197.1

Target Gene Details

• Entrez Gene ID: 91304
• Gene Name: transmembrane protein 259
• Gene Aliases: ASBABP1, C19orf6, MBRL, MEMBRALIN, R32184_3
• Location: Chr.19:1009651-1021169 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM259	NM_001033026.1			NP_001028198.1
	NM_033420.3			NP_219488.1
	XM_005259675.2			XP_005259732.1
	XM_005259676.2			XP_005259733.1
	XM_005259677.2			XP_005259734.1
	XM_005259678.2			XP_005259735.1
	XM_017027457.1			XP_016882946.1
	AK090400.1	7	1771	BAC03381.1
	AK095756.1
	AY140906.1			AAN25597.1
	BC008957.2			AAH08957.1
	DQ005958.1			AAY27747.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	R3HDM4 EFNA2 TMEM259 ABCA7 KISS1R CBARP ARID3A ARHGAP45 POLR2E GPX4 CIRBP RNU6-9 GRIN3B LOC102725180 C19orf24 WDR18 ATP5D SBNO2 LOC105372235 CIRBP-AS1 STK11 MIDN RNU6-2 CNN2
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	R3HDM4 EFNA2 TMEM259 CBARP ARID3A CIRBP LOC102725180 C19orf24 WDR18 SBNO2 CIRBP-AS1 MIDN ABCA7 KISS1R ARHGAP45 POLR2E GPX4 MED16 RNU6-9 GRIN3B ATP5D LOC105372235 STK11 RNU6-2 CNN2
nsv578189	Chr.19:1007994 - 1013149 on Build GRCh38	Loss	GRIN3B TMEM259 LOC105372235
nsv578188	Chr.19:923744 - 1059005 on Build GRCh38	Loss	GRIN3B TMEM259 ABCA7 ARID3A WDR18 LOC105372235 RNU6-2 CNN2
nsv469845	Chr.19:951640 - 1144486 on Build GRCh38	Loss	GRIN3B TMEM259 ABCA7 ARID3A WDR18 ARHGAP45 SBNO2 LOC105372235 POLR2E RNU6-2 GPX4 CNN2
esv2758743	Chr.19:951641 - 1544934 on Build GRCh38	Gain+Loss	EFNA2 TMEM259 CBARP ARID3A ADAMTSL5 CIRBP PCSK4 LOC102725180 C19orf24 WDR18 SBNO2 CIRBP-AS1 C19orf25 MIDN NDUFS7 GAMT REEP6 RPS15 ABCA7 APC2 ARHGAP45 POLR2E GPX4 GRIN3B MUM1 DAZAP1 ATP5D LOC105372235 STK11 PLK5 RNU6-2 CNN2
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	R3HDM4 SHC2 TMEM259 TPGS1 ELANE ARID3A PRSS57 HCN2 C2CD4C ODF3L2 PRTN3 BSG THEG FGF22 PALM MISP RNF126 WDR18 CDC34 PLPPR3 GZMM MADCAM1 POLRMT ABCA7 LOC101928450 KISS1R MIR4745 ARHGAP45 CFD POLR2E FSTL3 GPX4 MED16 PTBP1 RNU6-9 GRIN3B AZU1 MIR3187 LOC105372235 RNU6-2 CNN2

More Information

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

Panther Classification:

Molecular Function -

transmembrane signal receptor, non-motor microtubule binding protein

Gene Ontology Categories:

Process(es)

ionotropic glutamate receptor signaling pathway
protein insertion into membrane
regulation of calcium ion transport
calcium ion transmembrane transport
response to endoplasmic reticulum stress
negative regulation of neuron death
positive regulation of ERAD pathway

Function(s)

NMDA glutamate receptor activity
extracellular-glutamate-gated ion channel activity
cation channel activity
calcium channel activity
glycine binding
neurotransmitter receptor activity
neurotransmitter binding