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Q9UKL4 (CXD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gap junction delta-2 protein
Alternative name(s):
Connexin-36
Short name=Cx36
Gap junction alpha-9 protein
Gene names
Name:GJD2
Synonyms:GJA9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length321 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

A connexon is composed of a hexamer of connexins.

Subcellular location

Cell membrane; Multi-pass membrane protein. Cell junctiongap junction.

Tissue specificity

Highly expressed in neurons.

Sequence similarities

Belongs to the connexin family. Delta-type subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 321321Gap junction delta-2 protein
PRO_0000057835

Regions

Topological domain1 – 1919Cytoplasmic Potential
Transmembrane20 – 4223Helical; Potential
Topological domain43 – 7533Extracellular Potential
Transmembrane76 – 9823Helical; Potential
Topological domain99 – 19799Cytoplasmic Potential
Transmembrane198 – 22023Helical; Potential
Topological domain221 – 25232Extracellular Potential
Transmembrane253 – 27523Helical; Potential
Topological domain276 – 32146Cytoplasmic Potential
Compositional bias125 – 13814Poly-Gly

Sequences

Sequence LengthMass (Da)Tools
Q9UKL4 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 39980B61532A4E76

FASTA32136,093
        10         20         30         40         50         60 
MGEWTILERL LEAAVQQHST MIGRILLTVV VIFRILIVAI VGETVYDDEQ TMFVCNTLQP 

        70         80         90        100        110        120 
GCNQACYDRA FPISHIRYWV FQIIMVCTPS LCFITYSVHQ SAKQRERRYS TVFLALDRDP 

       130        140        150        160        170        180 
PESIGGPGGT GGGGSGGGKR EDKKLQNAIV NGVLQNTENT SKETEPDCLE VKELTPHPSG 

       190        200        210        220        230        240 
LRTASKSKLR RQEGISRFYI IQVVFRNALE IGFLVGQYFL YGFSVPGLYE CNRYPCIKEV 

       250        260        270        280        290        300 
ECYVSRPTEK TVFLVFMFAV SGICVVLNLA ELNHLGWRKI KLAVRGAQAK RKSIYEIRNK 

       310        320 
DLPRVSVPNF GRTQSSDSAY V 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_065711.1. NM_020660.2.
UniGeneHs.283816.

3D structure databases

ProteinModelPortalQ9UKL4.
SMRQ9UKL4. Positions 3-278.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000290374.

Chemistry

GuidetoPHARMACOLOGY724.

PTM databases

PhosphoSiteQ9UKL4.

Polymorphism databases

DMDM8928073.

Proteomic databases

PaxDbQ9UKL4.
PRIDEQ9UKL4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290374; ENSP00000290374; ENSG00000159248.
GeneID57369.
KEGGhsa:57369.
UCSCuc001zis.2. human.

Organism-specific databases

CTD57369.
GeneCardsGC15M035043.
HGNCHGNC:19154. GJD2.
HPAHPA014355.
MIM607058. gene.
neXtProtNX_Q9UKL4.
PharmGKBPA162389706.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47775.
HOGENOMHOG000231127.
HOVERGENHBG009576.
InParanoidQ9UKL4.
KOK07373.
OMARDPPESM.
OrthoDBEOG7FNC7T.
PhylomeDBQ9UKL4.
TreeFamTF329606.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.
REACT_13685. Neuronal System.

Gene expression databases

BgeeQ9UKL4.
CleanExHS_GJA9.
HS_GJD2.
GenevestigatorQ9UKL4.

Family and domain databases

InterProIPR000500. Connexin.
IPR002260. Connexin36.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERPTHR11984. PTHR11984. 1 hit.
PfamPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSPR00206. CONNEXIN.
PR01131. CONNEXIN36.
SMARTSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGJD2.
GenomeRNAi57369.
NextBio63474.
PROQ9UKL4.
SOURCESearch...

Entry information

Entry nameCXD2_HUMAN
AccessionPrimary (citable) accession number: Q9UKL4
Secondary accession number(s): Q2M241, Q9P2R0
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 111 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM