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Protein
Submitted name:

Gap junction protein beta 2

Gene

GJB2

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: Annotation score: 3 out of 5-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 annotation

GO - Molecular functioni

  1. gap junction channel activity Source: Ensembl

GO - Biological processi

  1. cell-cell signaling Source: Ensembl
  2. cellular response to oxidative stress Source: Ensembl
  3. decidualization Source: Ensembl
  4. male genitalia development Source: Ensembl
  5. response to estradiol Source: Ensembl
  6. response to human chorionic gonadotropin Source: Ensembl
  7. response to progesterone Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Submitted name:
Gap junction protein beta 2Imported
Submitted name:
Gap junction protein, beta 2, 26kDa (Connexin 26), isoform CRA_aImported
Gene namesi
Name:GJB2Imported
ORF Names:hCG_18943Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Subcellular locationi

Cell membrane SAAS annotation; Multi-pass membrane protein SAAS annotation. Cell junctiongap junction SAAS annotation
Membrane UniRule annotation; Multi-pass membrane protein UniRule annotation

GO - Cellular componenti

  1. connexon complex Source: InterPro
  2. cytoplasm Source: Ensembl
  3. integral component of membrane Source: UniProtKB-KW
  4. lateral plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

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

PTM / Processingi

Proteomic databases

PRIDEiH9U1J4.

Expressioni

Gene expression databases

BgeeiH9U1J4.
ExpressionAtlasiH9U1J4. baseline and differential.

Interactioni

Subunit structurei

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

Structurei

3D structure databases

ProteinModelPortaliH9U1J4.
SMRiH9U1J4. Positions 2-217.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the connexin family.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helixSAAS annotation

Phylogenomic databases

KOiK07621.
OMAiMYVFYIM.
PhylomeDBiH9U1J4.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002268. Connexin26.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01139. CONNEXINB2.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

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_005266411.1. XM_005266354.1.
XP_005266412.1. XM_005266355.1.
XP_005266413.1. XM_005266356.1.
UniGeneiHs.524894.
Hs.714494.

Genome annotation databases

GeneIDi2706.
KEGGihsa:2706.

Cross-referencesi

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_005266411.1. XM_005266354.1.
XP_005266412.1. XM_005266355.1.
XP_005266413.1. XM_005266356.1.
UniGeneiHs.524894.
Hs.714494.

3D structure databases

ProteinModelPortaliH9U1J4.
SMRiH9U1J4. Positions 2-217.
ModBaseiSearch...
MobiDBiSearch...

Proteomic databases

PRIDEiH9U1J4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi2706.
KEGGihsa:2706.

Organism-specific databases

CTDi2706.

Phylogenomic databases

KOiK07621.
OMAiMYVFYIM.
PhylomeDBiH9U1J4.

Miscellaneous databases

GenomeRNAii2706.
NextBioi10698.

Gene expression databases

BgeeiH9U1J4.
ExpressionAtlasiH9U1J4. baseline and differential.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002268. Connexin26.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01139. CONNEXINB2.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "The sequence of the human genome."
    Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., Amanatides P., Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H.
    , Chen L., Skupski M., Subramanian G., Thomas P.D., Zhang J., Gabor Miklos G.L., Nelson C., Broder S., Clark A.G., Nadeau J., McKusick V.A., Zinder N., Levine A.J., Roberts R.J., Simon M., Slayman C., Hunkapiller M., Bolanos R., Delcher A., Dew I., Fasulo D., Flanigan M., Florea L., Halpern A., Hannenhalli S., Kravitz S., Levy S., Mobarry C., Reinert K., Remington K., Abu-Threideh J., Beasley E., Biddick K., Bonazzi V., Brandon R., Cargill M., Chandramouliswaran I., Charlab R., Chaturvedi K., Deng Z., Di Francesco V., Dunn P., Eilbeck K., Evangelista C., Gabrielian A.E., Gan W., Ge W., Gong F., Gu Z., Guan P., Heiman T.J., Higgins M.E., Ji R.R., Ke Z., Ketchum K.A., Lai Z., Lei Y., Li Z., Li J., Liang Y., Lin X., Lu F., Merkulov G.V., Milshina N., Moore H.M., Naik A.K., Narayan V.A., Neelam B., Nusskern D., Rusch D.B., Salzberg S., Shao W., Shue B., Sun J., Wang Z., Wang A., Wang X., Wang J., Wei M., Wides R., Xiao C., Yan C., Yao A., Ye J., Zhan M., Zhang W., Zhang H., Zhao Q., Zheng L., Zhong F., Zhong W., Zhu S., Zhao S., Gilbert D., Baumhueter S., Spier G., Carter C., Cravchik A., Woodage T., Ali F., An H., Awe A., Baldwin D., Baden H., Barnstead M., Barrow I., Beeson K., Busam D., Carver A., Center A., Cheng M.L., Curry L., Danaher S., Davenport L., Desilets R., Dietz S., Dodson K., Doup L., Ferriera S., Garg N., Gluecksmann A., Hart B., Haynes J., Haynes C., Heiner C., Hladun S., Hostin D., Houck J., Howland T., Ibegwam C., Johnson J., Kalush F., Kline L., Koduru S., Love A., Mann F., May D., McCawley S., McIntosh T., McMullen I., Moy M., Moy L., Murphy B., Nelson K., Pfannkoch C., Pratts E., Puri V., Qureshi H., Reardon M., Rodriguez R., Rogers Y.H., Romblad D., Ruhfel B., Scott R., Sitter C., Smallwood M., Stewart E., Strong R., Suh E., Thomas R., Tint N.N., Tse S., Vech C., Wang G., Wetter J., Williams S., Williams M., Windsor S., Winn-Deen E., Wolfe K., Zaveri J., Zaveri K., Abril J.F., Guigo R., Campbell M.J., Sjolander K.V., Karlak B., Kejariwal A., Mi H., Lazareva B., Hatton T., Narechania A., Diemer K., Muruganujan A., Guo N., Sato S., Bafna V., Istrail S., Lippert R., Schwartz R., Walenz B., Yooseph S., Allen D., Basu A., Baxendale J., Blick L., Caminha M., Carnes-Stine J., Caulk P., Chiang Y.H., Coyne M., Dahlke C., Mays A., Dombroski M., Donnelly M., Ely D., Esparham S., Fosler C., Gire H., Glanowski S., Glasser K., Glodek A., Gorokhov M., Graham K., Gropman B., Harris M., Heil J., Henderson S., Hoover J., Jennings D., Jordan C., Jordan J., Kasha J., Kagan L., Kraft C., Levitsky A., Lewis M., Liu X., Lopez J., Ma D., Majoros W., McDaniel J., Murphy S., Newman M., Nguyen T., Nguyen N., Nodell M., Pan S., Peck J., Peterson M., Rowe W., Sanders R., Scott J., Simpson M., Smith T., Sprague A., Stockwell T., Turner R., Venter E., Wang M., Wen M., Wu D., Wu M., Xia A., Zandieh A., Zhu X.
    Science 291:1304-1351(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
  2. Cited for: NUCLEOTIDE SEQUENCE.
  3. "New compound heterozygote in a patient with nonsyndromic hearing loss: a case report."
    Sadr-Nabavi A., Davari H.
    Submitted (NOV-2011) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE.
  4. "New compound heterozygote in a patient with nonsyndromic hearing loss: a case report."
    Sadr-Nabavi A., Davari H.
    Submitted (DEC-2011) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE.

Entry informationi

Entry nameiH9U1J4_HUMAN
AccessioniPrimary (citable) accession number: H9U1J4
Entry historyi
Integrated into UniProtKB/TrEMBL: June 13, 2012
Last sequence update: June 13, 2012
Last modified: April 1, 2015
This is version 29 of the entry and version 1 of the sequence. [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.

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.