Gene Gene information from NCBI Gene database.
Entrez ID 375519
Gene name Gap junction protein beta 7
Gene symbol GJB7
Synonyms (NCBI Gene)
CX25bA136M9.1connexin25
Chromosome 6
Chromosome location 6q14.3-q15
Summary Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin s
miRNA miRNA information provided by mirtarbase database.
422
miRTarBase ID miRNA Experiments Reference
MIRT708597 hsa-miR-1266-3p HITS-CLIP 19536157
MIRT708596 hsa-miR-1267 HITS-CLIP 19536157
MIRT708595 hsa-miR-6867-5p HITS-CLIP 19536157
MIRT708594 hsa-miR-4326 HITS-CLIP 19536157
MIRT708593 hsa-miR-7111-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005243 Function Gap junction channel activity IBA
GO:0005243 Function Gap junction channel activity IDA 12064583
GO:0005886 Component Plasma membrane IEA
GO:0005921 Component Gap junction IEA
GO:0005922 Component Connexin complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611921 16690 ENSG00000164411
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PEY0
Protein name Gap junction beta-7 protein (Connexin-25) (Cx25)
Protein function One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00029 Connexin 2 112 Connexin Family
PF00029 Connexin 101 203 Connexin Family
Tissue specificity TISSUE SPECIFICITY: Weakly expressed in placenta. {ECO:0000269|PubMed:12881038}.
Sequence
MSWMFLRDLLSGVNKYSTGTGWIWLAVVFVFRLLVYMVAAEHVWKDEQKEFECNSRQPGC
KNVCFDDFFPISQVRLWALQLIMVSTPSLLVVLHVAYHEG
REKRHRKKLYVSPGTMDGGL
WYAYLISLIVKTGFEIGFLVLFYKLYDGFSVPYLIKCDLKPCPNTVDCFISKPTEKTIFI
LFLVITSCLCIVLNFIELSFLVL
KCFIKCCLQKYLKKPQVLSV
Sequence length 223
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Gap junction assembly
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 32170581 Associate
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 26375552
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 26375552 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 26375552 Associate
★☆☆☆☆
Found in Text Mining only
Nonsyndromic Deafness Nonsyndromic Deafness BEFREE 30169122
★☆☆☆☆
Found in Text Mining only
Stomach Diseases Stomach disease Pubtator 32170581 Associate
★☆☆☆☆
Found in Text Mining only