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Protein

Gap junction beta-4 protein

Gene

GJB4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi605425 gene
neXtProtiNX_Q9NTQ9

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 – 20CytoplasmicSequence analysisAdd BLAST20
Transmembranei21 – 40HelicalSequence analysisAdd BLAST20
Topological domaini41 – 75ExtracellularSequence analysisAdd BLAST35
Transmembranei76 – 98HelicalSequence analysisAdd BLAST23
Topological domaini99 – 126CytoplasmicSequence analysisAdd BLAST28
Transmembranei127 – 149HelicalSequence analysisAdd BLAST23
Topological domaini150 – 187ExtracellularSequence analysisAdd BLAST38
Transmembranei188 – 210HelicalSequence analysisAdd BLAST23
Topological domaini211 – 266CytoplasmicSequence analysisAdd 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 PublicationsCorresponds to variant dbSNP:rs80358211EnsemblClinVar.1
Natural variantiVAR_07919522R → H in EKVP2. 1 PublicationCorresponds to variant dbSNP:rs80358212EnsemblClinVar.1
Natural variantiVAR_07919685T → P in EKVP2. 1 PublicationCorresponds to variant dbSNP:rs80358210EnsemblClinVar.1
Natural variantiVAR_010206137F → L in EKVP2. 2 PublicationsCorresponds to variant dbSNP:rs80358206EnsemblClinVar.1
Natural variantiVAR_079197189F → Y in EKVP2. 1 PublicationCorresponds to variant dbSNP:rs80358213EnsemblClinVar.1

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
ProteomicsDBi82630

PTM databases

iPTMnetiQ9NTQ9
PhosphoSitePlusiQ9NTQ9

Expressioni

Gene expression databases

BgeeiENSG00000189433 Expressed in 27 organ(s), highest expression level in skin of leg
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, 6 interactors
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
GeneTreeiENSGT00910000144026
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiQ9NTQ9
KOiK07623
OMAiHTVDCYI
OrthoDBiEOG091G0FKH
PhylomeDBiQ9NTQ9
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002270 Connexin311
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
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 PublicationsCorresponds to variant dbSNP:rs80358211EnsemblClinVar.1
Natural variantiVAR_07919522R → H in EKVP2. 1 PublicationCorresponds to variant dbSNP:rs80358212EnsemblClinVar.1
Natural variantiVAR_07919685T → P in EKVP2. 1 PublicationCorresponds to variant dbSNP:rs80358210EnsemblClinVar.1
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:rs80358206EnsemblClinVar.1
Natural variantiVAR_015090160R → C1 PublicationCorresponds to variant dbSNP:rs148710003Ensembl.1
Natural variantiVAR_015091169C → W2 PublicationsCorresponds to variant dbSNP:rs79193415EnsemblClinVar.1
Natural variantiVAR_079197189F → Y in EKVP2. 1 PublicationCorresponds to variant dbSNP:rs80358213EnsemblClinVar.1
Natural variantiVAR_015092204E → A2 PublicationsCorresponds to variant dbSNP:rs3738346EnsemblClinVar.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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliQ9NTQ9
SMRiQ9NTQ9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126063, 1 interactor
IntActiQ9NTQ9, 6 interactors
STRINGi9606.ENSP00000345868

PTM databases

iPTMnetiQ9NTQ9
PhosphoSitePlusiQ9NTQ9

Polymorphism and mutation databases

BioMutaiGJB4
DMDMi12229761

Proteomic databases

PaxDbiQ9NTQ9
PeptideAtlasiQ9NTQ9
PRIDEiQ9NTQ9
ProteomicsDBi82630

Protocols and materials databases

DNASUi127534
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi127534
DisGeNETi127534
EuPathDBiHostDB:ENSG00000189433.5
GeneCardsiGJB4
HGNCiHGNC:4286 GJB4
HPAiHPA055112
MalaCardsiGJB4
MIMi605425 gene
617524 phenotype
neXtProtiNX_Q9NTQ9
OpenTargetsiENSG00000189433
Orphaneti317 Erythrokeratodermia variabilis
PharmGKBiPA28697
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE21 Eukaryota
ENOG410Y9C2 LUCA
GeneTreeiENSGT00910000144026
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiQ9NTQ9
KOiK07623
OMAiHTVDCYI
OrthoDBiEOG091G0FKH
PhylomeDBiQ9NTQ9
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

GeneWikiiGJB4
GenomeRNAii127534
PROiPR:Q9NTQ9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000189433 Expressed in 27 organ(s), highest expression level in skin of leg
CleanExiHS_GJB4
GenevisibleiQ9NTQ9 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR002270 Connexin311
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
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
ProtoNetiSearch...

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 7, 2018
This is version 153 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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