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