Q9UKL4 (CXD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	321 AA.
Sequence status	Complete.
Protein existence	Evidence 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 junction › gap junction.
Tissue specificity	Highly expressed in neurons.
Sequence similarities	Belongs to the connexin family. Delta-type subfamily.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Gap junction Membrane
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of action potential Inferred from electronic annotation. Source: Compara synaptic transmission Traceable author statement. Source: Reactome visual perception Inferred from electronic annotation. Source: Compara
Cellular_component	connexon complex Inferred from electronic annotation. Source: InterPro gap junction Non-traceable author statement. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Traceable author statement. Source: Reactome
Molecular_function	gap junction channel activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 321	321	Gap junction delta-2 protein		PRO_0000057835
Regions
	Topological domain	1 – 19	19	Cytoplasmic Potential
	Transmembrane	20 – 42	23	Helical; Potential
	Topological domain	43 – 75	33	Extracellular Potential
	Transmembrane	76 – 98	23	Helical; Potential
	Topological domain	99 – 197	99	Cytoplasmic Potential
	Transmembrane	198 – 220	23	Helical; Potential
	Topological domain	221 – 252	32	Extracellular Potential
	Transmembrane	253 – 275	23	Helical; Potential
	Topological domain	276 – 321	46	Cytoplasmic Potential
	Compositional bias	125 – 138	14	Poly-Gly

Sequences

	Sequence		Length	Mass (Da)
	Q9UKL4 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 39980B61532A4E76	FASTA	321	36,093
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00007618.
RefSeq	NP_065711.1. NM_020660.2.
UniGene	Hs.283816.
3D structure databases
ProteinModelPortal	Q9UKL4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000290374.
PTM databases
PhosphoSite	Q9UKL4.
Polymorphism databases
DMDM	8928073.
Proteomic databases
PaxDb	Q9UKL4.
PRIDE	Q9UKL4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000290374; ENSP00000290374; ENSG00000159248.
GeneID	57369.
KEGG	hsa:57369.
UCSC	uc001zis.1. human.
Organism-specific databases
CTD	57369.
GeneCards	GC15M035043.
HGNC	HGNC:19154. GJD2.
HPA	HPA014355.
MIM	607058. gene.
neXtProt	NX_Q9UKL4.
PharmGKB	PA162389706.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG47775.
HOGENOM	HOG000231127.
HOVERGEN	HBG009576.
InParanoid	Q9UKL4.
KO	K07373.
OMA	PPESMGG.
OrthoDB	EOG4JM7Q3.
PhylomeDB	Q9UKL4.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking. REACT_13685. Neuronal System.
Gene expression databases
Bgee	Q9UKL4.
CleanEx	HS_GJA9. HS_GJD2.
Genevestigator	Q9UKL4.
GermOnline	ENSG00000159248. Homo sapiens.
Family and domain databases
InterPro	IPR000500. Connexin. IPR002260. Connexin36. IPR019570. Connexin_CCC. IPR017990. Connexin_CS. IPR013092. Connexin_N. [Graphical view]
PANTHER	PTHR11984. PTHR11984. 1 hit.
Pfam	PF00029. Connexin. 1 hit. PF10582. Connexin_CCC. 1 hit. [Graphical view]
PRINTS	PR00206. CONNEXIN. PR01131. CONNEXIN36.
SMART	SM00037. CNX. 1 hit. SM01089. Connexin_CCC. 1 hit. [Graphical view]
PROSITE	PS00407. CONNEXINS_1. 1 hit. PS00408. CONNEXINS_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57369.
NextBio	63474.
SOURCE	Search...

Entry information

Entry name

CXD2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.