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Protein

Gap junction beta-4 protein

Gene

GJB4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein 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.

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-190861. Gap junction assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-4 protein
Alternative name(s):
Connexin-30.3
Short name:
Cx30.3
Gene namesi
Name:GJB4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000189433.5.
HGNCiHGNC:4286. GJB4.

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
Topological domaini1 – 20CytoplasmicIEP:Add BLAST20
Transmembranei21 – 40HelicalIEP:Add BLAST20
Topological domaini41 – 75ExtracellularIEP:Add BLAST35
Transmembranei76 – 98HelicalIEP:Add BLAST23
Topological domaini99 – 126CytoplasmicIEP:Add BLAST28
Transmembranei127 – 149HelicalIEP:Add BLAST23
Topological domaini150 – 187ExtracellularIEP:Add BLAST38
Transmembranei188 – 210HelicalIEP:Add BLAST23
Topological domaini211 – 266CytoplasmicIEP:Add BLAST56

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Erythrokeratodermia variabilis et progressiva 2 (EKVP2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
See also OMIM:617524
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07919412G → D in EKVP2. 2 Publications1
Natural variantiVAR_07919522R → H in EKVP2. 1 Publication1
Natural variantiVAR_07919685T → P in EKVP2. 1 Publication1
Natural variantiVAR_010206137F → L in EKVP2. 2 PublicationsCorresponds to variant dbSNP:rs80358206Ensembl.1
Natural variantiVAR_079197189F → Y in EKVP2. 1 Publication1

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi127534.
MalaCardsiGJB4.
MIMi617524. phenotype.
OpenTargetsiENSG00000189433.
Orphaneti317. Erythrokeratodermia variabilis.
PharmGKBiPA28697.

Polymorphism and mutation databases

BioMutaiGJB4.
DMDMi12229761.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578651 – 266Gap junction beta-4 proteinAdd BLAST266

Proteomic databases

PaxDbiQ9NTQ9.
PeptideAtlasiQ9NTQ9.
PRIDEiQ9NTQ9.

PTM databases

iPTMnetiQ9NTQ9.
PhosphoSitePlusiQ9NTQ9.

Expressioni

Gene expression databases

BgeeiENSG00000189433.
CleanExiHS_GJB4.
GenevisibleiQ9NTQ9. HS.

Organism-specific databases

HPAiHPA055112.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.

Protein-protein interaction databases

BioGridi126063. 1 interactor.
IntActiQ9NTQ9. 1 interactor.
STRINGi9606.ENSP00000345868.

Structurei

3D structure databases

ProteinModelPortaliQ9NTQ9.
SMRiQ9NTQ9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE21. Eukaryota.
ENOG410Y9C2. LUCA.
GeneTreeiENSGT00900000140773.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ9NTQ9.
KOiK07623.
OMAiWDDEQKD.
OrthoDBiEOG091G0FKH.
PhylomeDBiQ9NTQ9.
TreeFamiTF329606.

Family and domain databases

InterProiView protein in InterPro
IPR000500. Connexin.
IPR002270. Connexin311.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
PANTHERiPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF30. PTHR11984:SF30. 1 hit.
PfamiView protein in Pfam
PF00029. Connexin. 1 hit.
PRINTSiPR00206. CONNEXIN.
PR01142. CONNEXINB5.
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.

Q9NTQ9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNWAFLQGLL SGVNKYSTVL SRIWLSVVFI FRVLVYVVAA EEVWDDEQKD
60 70 80 90 100
FVCNTKQPGC PNVCYDEFFP VSHVRLWALQ LILVTCPSLL VVMHVAYREE
110 120 130 140 150
RERKHHLKHG PNAPSLYDNL SKKRGGLWWT YLLSLIFKAA VDAGFLYIFH
160 170 180 190 200
RLYKDYDMPR VVACSVEPCP HTVDCYISRP TEKKVFTYFM VTTAAICILL
210 220 230 240 250
NLSEVFYLVG KRCMEIFGPR HRRPRCRECL PDTCPPYVLS QGGHPEDGNS
260
VLMKAGSAPV DAGGYP
Length:266
Mass (Da):30,419
Last modified:October 1, 2000 - v1
Checksum:iF136B3706AA14648
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07919412G → D in EKVP2. 2 Publications1
Natural variantiVAR_07919522R → H in EKVP2. 1 Publication1
Natural variantiVAR_07919685T → P in EKVP2. 1 Publication1
Natural variantiVAR_015088103R → C1 PublicationCorresponds to variant dbSNP:rs9426009Ensembl.1
Natural variantiVAR_015089124R → Q2 PublicationsCorresponds to variant dbSNP:rs140996335Ensembl.1
Natural variantiVAR_010206137F → L in EKVP2. 2 PublicationsCorresponds to variant dbSNP:rs80358206Ensembl.1
Natural variantiVAR_015090160R → C1 PublicationCorresponds to variant dbSNP:rs148710003Ensembl.1
Natural variantiVAR_015091169C → W2 PublicationsCorresponds to variant dbSNP:rs79193415Ensembl.1
Natural variantiVAR_079197189F → Y in EKVP2. 1 Publication1
Natural variantiVAR_015092204E → A2 PublicationsCorresponds to variant dbSNP:rs3738346Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057628 mRNA. Translation: BAG51944.1.
AL121988 Genomic DNA. No translation available.
CH471059 Genomic DNA. Translation: EAX07443.1.
BC034709 mRNA. Translation: AAH34709.1.
CCDSiCCDS383.1.
RefSeqiNP_694944.1. NM_153212.2.
XP_011538981.1. XM_011540679.2.
UniGeneiHs.351203.

Genome annotation databases

EnsembliENST00000339480; ENSP00000345868; ENSG00000189433.
GeneIDi127534.
KEGGihsa:127534.
UCSCiuc001bxv.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCXB4_HUMAN
AccessioniPrimary (citable) accession number: Q9NTQ9
Secondary accession number(s): B3KQ82
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: November 22, 2017
This is version 146 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families