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Q5T442

- CXG2_HUMAN

UniProt

Q5T442 - CXG2_HUMAN

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Protein

Gap junction gamma-2 protein

Gene
GJC2, GJA12
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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. May play a role in myelination in central and peripheral nervous systems.1 Publication

GO - Molecular functioni

  1. gap junction channel activity Source: Ensembl

GO - Biological processi

  1. cell-cell signaling Source: Ensembl
  2. cell death Source: UniProtKB-KW
  3. response to toxic substance Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction gamma-2 protein
Alternative name(s):
Connexin-46.6
Short name:
Cx46.6
Connexin-47
Short name:
Cx47
Gap junction alpha-12 protein
Gene namesi
Name:GJC2
Synonyms:GJA12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:17494. GJC2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei26 – 4621Helical; Reviewed predictionAdd
BLAST
Topological domaini47 – 7832Extracellular Reviewed predictionAdd
BLAST
Transmembranei79 – 9921Helical; Reviewed predictionAdd
BLAST
Topological domaini100 – 216117Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei217 – 23721Helical; Reviewed predictionAdd
BLAST
Topological domaini238 – 26528Extracellular Reviewed predictionAdd
BLAST
Transmembranei266 – 28621Helical; Reviewed predictionAdd
BLAST
Topological domaini287 – 439153Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. connexon complex Source: InterPro
  2. integral component of membrane Source: UniProtKB-KW
  3. myelin sheath Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]: An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901P → S in HLD2. 1 Publication
VAR_023754
Natural varianti272 – 2721Y → D in HLD2. 1 Publication
VAR_023755
Natural varianti286 – 2861M → T in HLD2. 1 Publication
VAR_023756
Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361I → M in SPG44; does not form functional homotypic channels. 1 Publication
VAR_063172
Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480]: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481S → L in LMPH1C. 1 Publication
VAR_063877
Natural varianti260 – 2601R → C in LMPH1C. 1 Publication
VAR_063880

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Leukodystrophy, Neurodegeneration

Organism-specific databases

MIMi608804. phenotype.
613206. phenotype.
613480. phenotype.
Orphaneti320401. Autosomal recessive spastic paraplegia type 44.
79452. Milroy disease.
280282. Pelizaeus-Merzbacher-like due to GJC2 mutation.
PharmGKBiPA162389696.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 439439Gap junction gamma-2 proteinPRO_0000057842Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei371 – 3711Phosphoserine By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ5T442.
PRIDEiQ5T442.

PTM databases

PhosphoSiteiQ5T442.

Expressioni

Tissue specificityi

Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.1 Publication

Gene expression databases

BgeeiQ5T442.
CleanExiHS_GJC2.
GenevestigatoriQ5T442.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. Interacts with TJP1 By similarity.

Protein-protein interaction databases

BioGridi121419. 1 interaction.
IntActiQ5T442. 1 interaction.
STRINGi9606.ENSP00000355675.

Structurei

3D structure databases

ProteinModelPortaliQ5T442.
SMRiQ5T442. Positions 6-111, 197-289.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi143 – 17634Glu-richAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG313094.
HOGENOMiHOG000231126.
HOVERGENiHBG009576.
InParanoidiQ5T442.
KOiK07619.
OMAiDRDSPPC.
OrthoDBiEOG79SDXT.
PhylomeDBiQ5T442.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
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.
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.

Q5T442-1 [UniParc]FASTAAdd to Basket

« Hide

MTNMSWSFLT RLLEEIHNHS TFVGKVWLTV LVVFRIVLTA VGGEAIYSDE    50
QAKFTCNTRQ PGCDNVCYDA FAPLSHVRFW VFQIVVISTP SVMYLGYAVH 100
RLARASEQER RRALRRRPGP RRAPRAHLPP PHAGWPEPAD LGEEEPMLGL 150
GEEEEEEETG AAEGAGEEAE EAGAEEACTK AVGADGKAAG TPGPTGQHDG 200
RRRIQREGLM RVYVAQLVAR AAFEVAFLVG QYLLYGFEVR PFFPCSRQPC 250
PHVVDCFVSR PTEKTVFLLV MYVVSCLCLL LNLCEMAHLG LGSAQDAVRG 300
RRGPPASAPA PAPRPPPCAF PAAAAGLACP PDYSLVVRAA ERARAHDQNL 350
ANLALQALRD GAAAGDRDRD SSPCVGLPAA SRGPPRAGAP ASRTGSATSA 400
GTVGEQGRPG THERPGAKPR AGSEKGSASS RDGKTTVWI 439
Length:439
Mass (Da):47,002
Last modified:December 21, 2004 - v1
Checksum:i09725B5DC476672A
GO

Sequence cautioni

The sequence AAB94511.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAH35840.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191H → P Associated with lymphedema in a small family. 1 Publication
VAR_063876
Natural varianti36 – 361I → M in SPG44; does not form functional homotypic channels. 1 Publication
VAR_063172
Natural varianti48 – 481S → L in LMPH1C. 1 Publication
VAR_063877
Natural varianti90 – 901P → S in HLD2. 1 Publication
VAR_023754
Natural varianti125 – 1251R → Q Associated with lymphedema in a small family. 1 Publication
VAR_063878
Natural varianti149 – 1491G → S Associated with lymphedema in a small family. 1 Publication
VAR_063879
Natural varianti260 – 2601R → C in LMPH1C. 1 Publication
VAR_063880
Natural varianti272 – 2721Y → D in HLD2. 1 Publication
VAR_023755
Natural varianti286 – 2861M → T in HLD2. 1 Publication
VAR_023756
Natural varianti316 – 3161P → L Associated with lymphedema in a small family. 1 Publication
VAR_063881

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti83 – 831Q → H in AAB94511. 1 Publication
Sequence conflicti252 – 2521H → Q in AAB94511. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF014643 Genomic DNA. Translation: AAB94511.1. Different initiation.
AL359510 Genomic DNA. Translation: CAI15069.1.
BC035840 mRNA. Translation: AAH35840.1. Different initiation.
BC089439 mRNA. Translation: AAH89439.1.
AY285161 mRNA. Translation: AAP37488.1.
CCDSiCCDS1569.1.
RefSeqiNP_065168.2. NM_020435.3.
UniGeneiHs.100072.
Hs.743715.

Genome annotation databases

EnsembliENST00000366714; ENSP00000355675; ENSG00000198835.
GeneIDi57165.
KEGGihsa:57165.
UCSCiuc001hsk.3. human.

Polymorphism databases

DMDMi74744875.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF014643 Genomic DNA. Translation: AAB94511.1 . Different initiation.
AL359510 Genomic DNA. Translation: CAI15069.1 .
BC035840 mRNA. Translation: AAH35840.1 . Different initiation.
BC089439 mRNA. Translation: AAH89439.1 .
AY285161 mRNA. Translation: AAP37488.1 .
CCDSi CCDS1569.1.
RefSeqi NP_065168.2. NM_020435.3.
UniGenei Hs.100072.
Hs.743715.

3D structure databases

ProteinModelPortali Q5T442.
SMRi Q5T442. Positions 6-111, 197-289.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121419. 1 interaction.
IntActi Q5T442. 1 interaction.
STRINGi 9606.ENSP00000355675.

Chemistry

GuidetoPHARMACOLOGYi 731.

PTM databases

PhosphoSitei Q5T442.

Polymorphism databases

DMDMi 74744875.

Proteomic databases

PaxDbi Q5T442.
PRIDEi Q5T442.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000366714 ; ENSP00000355675 ; ENSG00000198835 .
GeneIDi 57165.
KEGGi hsa:57165.
UCSCi uc001hsk.3. human.

Organism-specific databases

CTDi 57165.
GeneCardsi GC01P228337.
HGNCi HGNC:17494. GJC2.
MIMi 608803. gene.
608804. phenotype.
613206. phenotype.
613480. phenotype.
neXtProti NX_Q5T442.
Orphaneti 320401. Autosomal recessive spastic paraplegia type 44.
79452. Milroy disease.
280282. Pelizaeus-Merzbacher-like due to GJC2 mutation.
PharmGKBi PA162389696.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG313094.
HOGENOMi HOG000231126.
HOVERGENi HBG009576.
InParanoidi Q5T442.
KOi K07619.
OMAi DRDSPPC.
OrthoDBi EOG79SDXT.
PhylomeDBi Q5T442.
TreeFami TF329606.

Enzyme and pathway databases

Reactomei REACT_9509. Gap junction assembly.

Miscellaneous databases

GeneWikii GJC2.
GenomeRNAii 57165.
NextBioi 63173.
PROi Q5T442.
SOURCEi Search...

Gene expression databases

Bgeei Q5T442.
CleanExi HS_GJC2.
Genevestigatori Q5T442.

Family and domain databases

InterProi IPR000500. Connexin.
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.
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. "Cloning and molecular characterization of human connexin46.6, a new gap junction gene."
    Bloemker B.K., Swaroop A., Kimberling W.J.
    Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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].
    Tissue: Brain and Chondrosarcoma.
  4. "Human connexin47, updated ORF."
    Enriquez A.D., Scherer S.S.
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-439.
    Tissue: Corpus callosum.
  5. "Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease."
    Uhlenberg B., Schuelke M., Rueschendorf F., Ruf N., Kaindl A.M., Henneke M., Thiele H., Stoltenburg-Didinger G., Aksu F., Topaloglu H., Nuernberg P., Huebner C., Weschke B., Gaertner J.
    Am. J. Hum. Genet. 75:251-260(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, DISEASE, VARIANTS HLD2 SER-90; ASP-272 AND THR-286, TISSUE SPECIFICITY.
  6. Cited for: VARIANT SPG44 MET-36, CHARACTERIZATION OF VARIANT SPG44 MET-36.
  7. Cited for: VARIANTS LMPH1C LEU-48 AND CYS-260, VARIANTS PRO-19; GLN-125; SER-149 AND LEU-316.

Entry informationi

Entry nameiCXG2_HUMAN
AccessioniPrimary (citable) accession number: Q5T442
Secondary accession number(s): O43440, Q7Z7J2, Q8IWJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: December 21, 2004
Last modified: September 3, 2014
This is version 103 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

Caution

It is uncertain whether Met-1 or Met-4 is the initiator.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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