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Protein

Gap junction protein

Gene

GJB2

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

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.UniRule annotationSAAS annotation

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction proteinUniRule annotation
Gene namesi
Name:GJB2Imported
ORF Names:hCG_18943Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Organism-specific databases

EuPathDBiHostDB:ENSG00000165474.5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei23 – 40HelicalSequence analysisAdd BLAST18
Transmembranei77 – 97HelicalSequence analysisAdd BLAST21
Transmembranei132 – 158HelicalSequence analysisAdd BLAST27
Transmembranei191 – 215HelicalSequence analysisAdd BLAST25

Keywords - Cellular componenti

Cell junction, Cell membraneSAAS annotation, Gap junctionUniRule annotationSAAS annotation, Membrane

Expressioni

Gene expression databases

BgeeiENSG00000165474

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.UniRule annotationSAAS annotation

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini42 – 75CNXInterPro annotationAdd BLAST34
Domaini146 – 213Connexin_CCCInterPro annotationAdd BLAST68

Sequence similaritiesi

Belongs to the connexin family.UniRule annotationSAAS annotation

Keywords - Domaini

Transmembrane, Transmembrane helixSequence analysisSAAS annotation

Phylogenomic databases

eggNOGiENOG410IFM8 Eukaryota
ENOG410Y7VN LUCA
KOiK07621
OMAiVMYDGFA
OrthoDBiEOG091G0FKH

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002268 Connexin26
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
PR01139 CONNEXINB2
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

Sequencei

Sequence statusi: Complete.

H9U1J4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDWGTLQTIL GGVNKHSTSI GKIWLTVLFI FRIMILVVAA KEVWGDEQAD
60 70 80 90 100
FVCNTLQPGC KNVCYDHYFP ISHIRLWALQ LIFVSTPALL VAMHVAYRRH
110 120 130 140 150
EKKRKFIKGE IKSEFKDIEE IKTQKVRIEG SLWWTYTSSI FFRVIFEAAF
160 170 180 190 200
MYVFYVMYDG FSMQRLVKCN AWPCPNTVDC FVSRPTEKTV FTVFMIAVSG
210 220
ICILLNVTEL CYLLIRYCSG KSKKPV
Length:226
Mass (Da):26,215
Last modified:June 13, 2012 - v1
Checksum:iD35293C6747E908C
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JQ342677 mRNA Translation: AFG29040.1
JQ595559 Genomic DNA Translation: AFG29041.1
CH471075 Genomic DNA Translation: EAX08252.1
CH471075 Genomic DNA Translation: EAX08253.1
RefSeqiNP_003995.2, NM_004004.5
XP_011533351.1, XM_011535049.2
UniGeneiHs.524894
Hs.714494

Genome annotation databases

GeneIDi2706
KEGGihsa:2706

Similar proteinsi

Entry informationi

Entry nameiH9U1J4_HUMAN
AccessioniPrimary (citable) accession number: H9U1J4
Entry historyiIntegrated into UniProtKB/TrEMBL: June 13, 2012
Last sequence update: June 13, 2012
Last modified: April 25, 2018
This is version 59 of the entry and version 1 of the sequence. See complete history.
Entry statusiUnreviewed (UniProtKB/TrEMBL)
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health