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See other GJC2 CNV Assays ›
Gene Symbol
GJC2
Assay Reference Genome
Location

Chr.1:228157912 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01901902_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

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 Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJC2 NM_020435.3 2 467 NP_065168.2
AY285161.1 1 145 AAP37488.1
BC035840.1 2 221 AAH35840.1
BC089439.1 2 467 AAH89439.1

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 IBA57-AS1 GUK1 GJC2
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion IBA57 IBA57-AS1 C1orf145 MRPL55 C1orf35 GUK1 GJC2 OBSCN MIR3620 ARF1
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain IBA57 LOC105373289 MRPL55 IBA57-AS1 HIST3H3 C1orf145 TRIM17 C1orf35 GUK1 WNT9A MIR6742 HIST3H2BB HIST3H2A GJC2 LOC107985355 OBSCN LOC101060022 SNAP47 RNF187 TRIM11 MIR4666A JMJD4 MIR5008 LOC101927401 WNT3A LOC100506571 MIR3620 PRSS38 ARF1
nsv827031 Chr.1:228156381 - 228162089 on Build GRCh38 Gain GJC2
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain IBA57 RNA5S14 LOC105373132 RNA5S8 IBA57-AS1 HIST3H3 C1orf145 TRIM17 RNA5S6 GUK1 WNT9A MIR6742 RNA5S5 HIST3H2BB HIST3H2A GJC2 BTNL10 RNF187 RHOU RNA5S10 RNA5S1 MIR5008 LOC101927401 LOC100506571 RNA5S16 RNA5S13 RNA5S15 MIR3620 ARF1 RNA5S17 LOC105373289 MRPL55 RNA5S3 DUSP5P1 C1orf35 RNA5S11 RNA5S4 LOC107985355 OBSCN LOC101060022 RNA5S9 SNAP47 TRIM11 MIR4666A JMJD4 RNA5S2 WNT3A RNA5S12 RNA5S7 PRSS38
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss IBA57 TRIM11 MIR4666A LOC101927401 IBA57-AS1 HIST3H3 C1orf145 TRIM17 GUK1 MIR6742 HIST3H2BB HIST3H2A GJC2 OBSCN
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss IBA57 MRPL55 IBA57-AS1 HIST3H3 C1orf145 TRIM17 C1orf35 GUK1 WNT9A MIR6742 HIST3H2BB HIST3H2A GJC2 LOC107985355 OBSCN LOC101060022 RNF187 TRIM11 MIR4666A MIR5008 LOC101927401 WNT3A LOC100506571 MIR3620 ARF1
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57 IBA57-AS1 GUK1 GJC2
nsv549291 Chr.1:228151238 - 228163073 on Build GRCh38 Loss GJC2
nsv549290 Chr.1:228145951 - 228162105 on Build GRCh38 Loss GUK1 GJC2
dgv105n67 Chr.1:228157036 - 228160245 on Build GRCh38 Gain GJC2

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Function(s) Process(es)


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