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Protein

Gap junction delta-2 protein

Gene

GJD2

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 - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-112303 Electric Transmission Across Gap Junctions
R-HSA-190861 Gap junction assembly

Protein family/group databases

TCDBi1.A.24.1.13 the gap junction-forming connexin (connexin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction delta-2 protein
Alternative name(s):
Connexin-36
Short name:
Cx36
Gap junction alpha-9 protein
Gene namesi
Name:GJD2
Synonyms:GJA9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000159248.4
HGNCiHGNC:19154 GJD2
MIMi607058 gene
neXtProtiNX_Q9UKL4

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 – 19CytoplasmicSequence analysisAdd BLAST19
Transmembranei20 – 42HelicalSequence analysisAdd BLAST23
Topological domaini43 – 75ExtracellularSequence analysisAdd BLAST33
Transmembranei76 – 98HelicalSequence analysisAdd BLAST23
Topological domaini99 – 197CytoplasmicSequence analysisAdd BLAST99
Transmembranei198 – 220HelicalSequence analysisAdd BLAST23
Topological domaini221 – 252ExtracellularSequence analysisAdd BLAST32
Transmembranei253 – 275HelicalSequence analysisAdd BLAST23
Topological domaini276 – 321CytoplasmicSequence analysisAdd BLAST46

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi57369
OpenTargetsiENSG00000159248
PharmGKBiPA162389706

Polymorphism and mutation databases

DMDMi8928073

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578351 – 321Gap junction delta-2 proteinAdd BLAST321

Proteomic databases

EPDiQ9UKL4
PaxDbiQ9UKL4
PeptideAtlasiQ9UKL4
PRIDEiQ9UKL4

PTM databases

iPTMnetiQ9UKL4
PhosphoSitePlusiQ9UKL4

Expressioni

Tissue specificityi

Highly expressed in neurons.

Gene expression databases

BgeeiENSG00000159248
CleanExiHS_GJA9
HS_GJD2
GenevisibleiQ9UKL4 HS

Organism-specific databases

HPAiHPA014355

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.

Protein-protein interaction databases

STRINGi9606.ENSP00000290374

Structurei

Secondary structure

1321
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi276 – 286Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2N6ANMR-A276-292[»]
ProteinModelPortaliQ9UKL4
SMRiQ9UKL4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi125 – 138Poly-GlyAdd BLAST14

Sequence similaritiesi

Belongs to the connexin family. Delta-type subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJ31 Eukaryota
ENOG410YRD5 LUCA
GeneTreeiENSGT00910000143998
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiQ9UKL4
KOiK07373
OMAiTNKETEP
OrthoDBiEOG091G0FB1
PhylomeDBiQ9UKL4
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 2 hits
InterProiView protein in InterPro
IPR000500 Connexin
IPR002260 Connexin36
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
PR01131 CONNEXIN36
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.

Q9UKL4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGEWTILERL LEAAVQQHST MIGRILLTVV VIFRILIVAI VGETVYDDEQ
60 70 80 90 100
TMFVCNTLQP GCNQACYDRA FPISHIRYWV FQIIMVCTPS LCFITYSVHQ
110 120 130 140 150
SAKQRERRYS TVFLALDRDP PESIGGPGGT GGGGSGGGKR EDKKLQNAIV
160 170 180 190 200
NGVLQNTENT SKETEPDCLE VKELTPHPSG LRTASKSKLR RQEGISRFYI
210 220 230 240 250
IQVVFRNALE IGFLVGQYFL YGFSVPGLYE CNRYPCIKEV ECYVSRPTEK
260 270 280 290 300
TVFLVFMFAV SGICVVLNLA ELNHLGWRKI KLAVRGAQAK RKSIYEIRNK
310 320
DLPRVSVPNF GRTQSSDSAY V
Length:321
Mass (Da):36,093
Last modified:May 1, 2000 - v1
Checksum:i39980B61532A4E76
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF153047 Genomic DNA Translation: AAD54234.1
BC069339 mRNA Translation: AAH69339.1
BC112110 mRNA Translation: AAI12111.1
BC112114 mRNA Translation: AAI12115.1
AB037509 Genomic DNA Translation: BAA90429.1
CCDSiCCDS10040.1
RefSeqiNP_065711.1, NM_020660.2
UniGeneiHs.283816

Genome annotation databases

EnsembliENST00000290374; ENSP00000290374; ENSG00000159248
GeneIDi57369
KEGGihsa:57369
UCSCiuc001zis.3 human

Similar proteinsi

Entry informationi

Entry nameiCXD2_HUMAN
AccessioniPrimary (citable) accession number: Q9UKL4
Secondary accession number(s): Q2M241, Q9P2R0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: April 25, 2018
This is version 143 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

3D-structure, Complete proteome, Reference proteome

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