Hs03371686_cn

• Gene Symbol: GJC2
• Assay Reference Genome Location: Chr.1:228152932 on build GRCh38
• Cytoband: 1q42.13

Target Gene Details

• Entrez Gene ID: 57165
• Gene Name: gap junction protein gamma 2
• Gene Aliases: CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44
• Location: Chr.1:228149714-228159826 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJC2	NM_020435.3			NP_065168.2
	BC035840.1			AAH35840.1
	BC089439.1			AAH89439.1
	CF132637.1
	EU433401.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952137	Chr.1:228140600 - 228182899 on Build GRCh38	Deletion	IBA57-AS1 IBA57 GUK1 GJC2
nsv1160102	Chr.1:228081212 - 228239280 on Build GRCh38	Deletion	IBA57-AS1 IBA57 MIR3620 C1orf145 MRPL55 C1orf35 GUK1 ARF1 GJC2 OBSCN
nsv826908	Chr.1:227707685 - 228503399 on Build GRCh38	Gain	MIR4666A ARF1 LOC100506571 WNT3A LOC105373289 JMJD4 IBA57-AS1 MIR3620 C1orf145 MRPL55 GUK1 WNT9A LOC107985355 HIST3H3 LOC101927401 TRIM17 IBA57 PRSS38 TRIM11 GJC2 MIR6742 OBSCN SNAP47 MIR5008 HIST3H2BB LOC101060022 C1orf35 RNF187 HIST3H2A
esv32853	Chr.1:227692415 - 228670462 on Build GRCh38	Gain	RNA5S8 DUSP5P1 ARF1 WNT3A IBA57-AS1 RNA5S15 MIR3620 C1orf145 MRPL55 GUK1 WNT9A RNA5S7 LOC107985355 HIST3H3 LOC101927401 RNA5S14 RNA5S4 RNA5S12 TRIM11 RNA5S11 GJC2 RNA5S3 RHOU OBSCN SNAP47 HIST3H2BB LOC101060022 RNA5S2 HIST3H2A MIR4666A RNA5S16 LOC100506571 RNA5S10 LOC105373289 JMJD4 RNA5S13 RNA5S17 TRIM17 IBA57 PRSS38 RNA5S5 MIR6742 RNA5S1 RNA5S6 BTNL10 MIR5008 RNA5S9 C1orf35 RNF187 LOC105373132
nsv827019	Chr.1:228126466 - 228463319 on Build GRCh38	Loss	LOC101927401 MIR4666A TRIM17 IBA57 TRIM11 GJC2 MIR6742 OBSCN IBA57-AS1 HIST3H2BB C1orf145 GUK1 HIST3H2A HIST3H3
nsv523935	Chr.1:227850423 - 228494048 on Build GRCh38	Loss	MIR4666A ARF1 LOC100506571 WNT3A IBA57-AS1 MIR3620 C1orf145 MRPL55 GUK1 WNT9A LOC107985355 HIST3H3 LOC101927401 TRIM17 IBA57 TRIM11 GJC2 MIR6742 OBSCN MIR5008 HIST3H2BB LOC101060022 C1orf35 RNF187 HIST3H2A
dgv839n54	Chr.1:228139958 - 228183397 on Build GRCh38	Loss	IBA57-AS1 IBA57 GUK1 GJC2
nsv549291	Chr.1:228151238 - 228163073 on Build GRCh38	Loss	GJC2
nsv549290	Chr.1:228145951 - 228162105 on Build GRCh38	Loss	GUK1 GJC2

More Information

Additional Information:

For this assay, SNP(s) [rs74142606,rs75396807] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

cell-cell signaling
response to toxic substance
transmembrane transport

Function(s)

gap junction channel activity