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Protein

Gap junction delta-2 protein

Gene

GJD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_16970. Electric Transmission Across Gap Junctions.
REACT_9509. Gap junction assembly.

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
ProteomesiUP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:19154. GJD2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei20 – 4223HelicalSequence AnalysisAdd
BLAST
Topological domaini43 – 7533ExtracellularSequence AnalysisAdd
BLAST
Transmembranei76 – 9823HelicalSequence AnalysisAdd
BLAST
Topological domaini99 – 19799CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei198 – 22023HelicalSequence AnalysisAdd
BLAST
Topological domaini221 – 25232ExtracellularSequence AnalysisAdd
BLAST
Transmembranei253 – 27523HelicalSequence AnalysisAdd
BLAST
Topological domaini276 – 32146CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162389706.

Polymorphism and mutation databases

DMDMi8928073.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 321321Gap junction delta-2 proteinPRO_0000057835Add
BLAST

Proteomic databases

PaxDbiQ9UKL4.
PRIDEiQ9UKL4.

PTM databases

PhosphoSiteiQ9UKL4.

Expressioni

Tissue specificityi

Highly expressed in neurons.

Gene expression databases

BgeeiQ9UKL4.
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

3D structure databases

ProteinModelPortaliQ9UKL4.
SMRiQ9UKL4. Positions 3-108, 182-275.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi125 – 13814Poly-GlyAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG47775.
GeneTreeiENSGT00800000124029.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ9UKL4.
KOiK07373.
OMAiNKETEPD.
OrthoDBiEOG7FNC7T.
PhylomeDBiQ9UKL4.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002260. Connexin36.
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.
PR01131. CONNEXIN36.
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.

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.2. human.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9UKL4.
SMRiQ9UKL4. Positions 3-108, 182-275.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000290374.

Chemistry

GuidetoPHARMACOLOGYi724.

PTM databases

PhosphoSiteiQ9UKL4.

Polymorphism and mutation databases

DMDMi8928073.

Proteomic databases

PaxDbiQ9UKL4.
PRIDEiQ9UKL4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290374; ENSP00000290374; ENSG00000159248.
GeneIDi57369.
KEGGihsa:57369.
UCSCiuc001zis.2. human.

Organism-specific databases

CTDi57369.
GeneCardsiGC15M035043.
HGNCiHGNC:19154. GJD2.
HPAiHPA014355.
MIMi607058. gene.
neXtProtiNX_Q9UKL4.
PharmGKBiPA162389706.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG47775.
GeneTreeiENSGT00800000124029.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ9UKL4.
KOiK07373.
OMAiNKETEPD.
OrthoDBiEOG7FNC7T.
PhylomeDBiQ9UKL4.
TreeFamiTF329606.

Enzyme and pathway databases

ReactomeiREACT_16970. Electric Transmission Across Gap Junctions.
REACT_9509. Gap junction assembly.

Miscellaneous databases

GeneWikiiGJD2.
GenomeRNAii57369.
NextBioi63474.
PROiQ9UKL4.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UKL4.
CleanExiHS_GJA9.
HS_GJD2.
GenevisibleiQ9UKL4. HS.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002260. Connexin36.
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.
PR01131. CONNEXIN36.
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

« Hide 'large scale' publications
  1. "Structure, chromosomal localization, and brain expression of human Cx36 gene."
    Belluardo N., Trovato-Salinaro A., Mudo G., Hurd Y.L., Condorelli D.F.
    J. Neurosci. Res. 57:740-752(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Human-specific amino acid changes found in 103 protein-coding genes."
    Kitano T., Liu Y.-H., Ueda S., Saitou N.
    Mol. Biol. Evol. 21:936-944(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 59-295.

Entry informationi

Entry nameiCXD2_HUMAN
AccessioniPrimary (citable) accession number: Q9UKL4
Secondary accession number(s): Q2M241, Q9P2R0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: July 22, 2015
This is version 121 of the entry and version 1 of the sequence. [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 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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.