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	WDR18 GRIN3B MIDN TMEM259 CBARP EFNA2 R3HDM4 LOC105372235 SBNO2 POLR2E ATP5D GPX4 LOC102725180 ABCA7 C19orf24 CIRBP-AS1 STK11 ARHGAP45 ARID3A CNN2 RNU6-2 RNU6-9 KISS1R CIRBP
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	WDR18 MIDN TMEM259 EFNA2 GPX4 CIRBP-AS1 STK11 ARHGAP45 RNU6-2 RNU6-9 CIRBP GRIN3B CBARP R3HDM4 LOC105372235 SBNO2 POLR2E ATP5D LOC102725180 ABCA7 C19orf24 MED16 ARID3A CNN2 KISS1R
nsv578189	Chr.19:1007994 - 1013149 on Build GRCh38	Loss	GRIN3B TMEM259 LOC105372235
nsv578188	Chr.19:923744 - 1059005 on Build GRCh38	Loss	WDR18 ABCA7 GRIN3B TMEM259 LOC105372235 ARID3A CNN2 RNU6-2
nsv469845	Chr.19:951640 - 1144486 on Build GRCh38	Loss	WDR18 GPX4 ABCA7 GRIN3B TMEM259 ARHGAP45 LOC105372235 SBNO2 ARID3A POLR2E CNN2 RNU6-2
nsv833704	Chr.19:951641 - 1144486 on Build GRCh38	Gain	WDR18 GPX4 ABCA7 GRIN3B TMEM259 ARHGAP45 LOC105372235 SBNO2 ARID3A POLR2E CNN2 RNU6-2
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	WDR18 PALM SHC2 TMEM259 RNF126 PTBP1 CDC34 GZMM AZU1 PLPPR3 BSG MADCAM1 GPX4 LOC101928450 THEG MIR3187 PRTN3 POLRMT ARHGAP45 RNU6-2 RNU6-9 MIR4745 HCN2 GRIN3B CFD TPGS1 PRSS57 R3HDM4 LOC105372235 ODF3L2 POLR2E FSTL3 ABCA7 MED16 ARID3A C2CD4C FGF22 MISP CNN2 ELANE KISS1R

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