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Q9UKL4

- CXD2_HUMAN

UniProt

Q9UKL4 - CXD2_HUMAN

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Protein
Gap junction delta-2 protein
Gene
GJD2, GJA9
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. gap junction channel activity Source: Reactome

GO - Biological processi

  1. action potential Source: Ensembl
  2. synaptic transmission Source: Reactome
  3. transmembrane transport Source: GOC
  4. visual perception Source: Ensembl
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: Chromosome 15

Organism-specific databases

HGNCiHGNC:19154. GJD2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei20 – 4223Helical; Reviewed prediction
Add
BLAST
Topological domaini43 – 7533Extracellular Reviewed prediction
Add
BLAST
Transmembranei76 – 9823Helical; Reviewed prediction
Add
BLAST
Topological domaini99 – 19799Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei198 – 22023Helical; Reviewed prediction
Add
BLAST
Topological domaini221 – 25232Extracellular Reviewed prediction
Add
BLAST
Transmembranei253 – 27523Helical; Reviewed prediction
Add
BLAST
Topological domaini276 – 32146Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. connexon complex Source: InterPro
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162389706.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 321321Gap junction delta-2 protein
PRO_0000057835Add
BLAST

Proteomic databases

PaxDbiQ9UKL4.
PRIDEiQ9UKL4.

PTM databases

PhosphoSiteiQ9UKL4.

Expressioni

Tissue specificityi

Highly expressed in neurons.

Gene expression databases

BgeeiQ9UKL4.
CleanExiHS_GJA9.
HS_GJD2.
GenevestigatoriQ9UKL4.

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.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG47775.
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

MGEWTILERL LEAAVQQHST MIGRILLTVV VIFRILIVAI VGETVYDDEQ    50
TMFVCNTLQP GCNQACYDRA FPISHIRYWV FQIIMVCTPS LCFITYSVHQ 100
SAKQRERRYS TVFLALDRDP PESIGGPGGT GGGGSGGGKR EDKKLQNAIV 150
NGVLQNTENT SKETEPDCLE VKELTPHPSG LRTASKSKLR RQEGISRFYI 200
IQVVFRNALE IGFLVGQYFL YGFSVPGLYE CNRYPCIKEV ECYVSRPTEK 250
TVFLVFMFAV SGICVVLNLA ELNHLGWRKI KLAVRGAQAK RKSIYEIRNK 300
DLPRVSVPNF GRTQSSDSAY V 321
Length:321
Mass (Da):36,093
Last modified:May 1, 2000 - v1
Checksum:i39980B61532A4E76
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi8928073.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10040.1.
RefSeqi NP_065711.1. NM_020660.2.
UniGenei Hs.283816.

3D structure databases

ProteinModelPortali Q9UKL4.
SMRi Q9UKL4. Positions 3-108, 182-275.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000290374.

Chemistry

GuidetoPHARMACOLOGYi 724.

PTM databases

PhosphoSitei Q9UKL4.

Polymorphism databases

DMDMi 8928073.

Proteomic databases

PaxDbi Q9UKL4.
PRIDEi Q9UKL4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000290374 ; ENSP00000290374 ; ENSG00000159248 .
GeneIDi 57369.
KEGGi hsa:57369.
UCSCi uc001zis.2. human.

Organism-specific databases

CTDi 57369.
GeneCardsi GC15M035043.
HGNCi HGNC:19154. GJD2.
HPAi HPA014355.
MIMi 607058. gene.
neXtProti NX_Q9UKL4.
PharmGKBi PA162389706.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG47775.
HOGENOMi HOG000231127.
HOVERGENi HBG009576.
InParanoidi Q9UKL4.
KOi K07373.
OMAi NKETEPD.
OrthoDBi EOG7FNC7T.
PhylomeDBi Q9UKL4.
TreeFami TF329606.

Enzyme and pathway databases

Reactomei REACT_16970. Electric Transmission Across Gap Junctions.
REACT_9509. Gap junction assembly.

Miscellaneous databases

GeneWikii GJD2.
GenomeRNAii 57369.
NextBioi 63474.
PROi Q9UKL4.
SOURCEi Search...

Gene expression databases

Bgeei Q9UKL4.
CleanExi HS_GJA9.
HS_GJD2.
Genevestigatori Q9UKL4.

Family and domain databases

InterProi IPR000500. Connexin.
IPR002260. Connexin36.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
PR01131. CONNEXIN36.
SMARTi SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view ]
PROSITEi PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 115 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

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