GJC2 Gene (Protein Coding)

Gap Junction Protein Gamma 2

GC01P228150
GIFtS:
43
This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like d... See more...

Aliases for GJC2 Gene

Aliases for GJC2 Gene

  • Gap Junction Protein Gamma 2 2 3 5
  • Gap Junction Protein, Gamma 2, 47kDa 2 3
  • Gap Junction Alpha-12 Protein 3 4
  • Gap Junction Gamma-2 Protein 3 4
  • Connexin-46.6 3 4
  • Connexin-47 3 4
  • GJA12 3 4
  • Cx47 3 4
  • Gap Junction Protein, Alpha 12, 47kDa 2
  • Connexin 47 2
  • CX46.6 3
  • LMPH1C 3
  • LMPHM3 3
  • PMLDAR 3
  • Cx46.6 4
  • SPG44 3
  • HLD2 3

External Ids for GJC2 Gene

Previous HGNC Symbols for GJC2 Gene

  • GJA12

Previous GeneCards Identifiers for GJC2 Gene

  • GC01P226405
  • GC01P228337
  • GC01P198852

Summaries for GJC2 Gene

Entrez Gene Summary for GJC2 Gene

  • This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJC2 Gene

GJC2 (Gap Junction Protein Gamma 2) is a Protein Coding gene. Diseases associated with GJC2 include Leukodystrophy, Hypomyelinating, 2 and Spastic Paraplegia 44, Autosomal Recessive. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJC1.

UniProtKB/Swiss-Prot Summary for GJC2 Gene

  • 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.

Tocris Summary for GJC2 Gene

  • Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).

Gene Wiki entry for GJC2 Gene

Additional gene information for GJC2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJC2 Gene

Genomics for GJC2 Gene

GeneHancer (GH) Regulatory Elements for GJC2 Gene

Promoters and enhancers for GJC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J228147 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 507.4 +0.6 637 5 NRF1 POLR2G ZIC2 ZBTB26 REST ZBTB25 ZNF740 ZBTB7A ZNF341 PCBP1 GJC2 OBSCN-AS1 OBSCN IBA57 ENSG00000269934 NONHSAG004525.2 lnc-GJC2-1 GUK1
GH01J228154 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 500.4 +5.3 5328 1 ZIC2 POLR2A ZFHX2 KLF17 HIC1 EGR1 KLF1 AGO2 EGR2 GLIS2 GJC2 lnc-GJC2-1
GH01J228484 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.6 +337.3 337297 4.4 EP300 FOXK2 ZBTB40 ZNF217 SIN3A TCF12 NRF1 MYC POLR2G SP1 RNF187 ENSG00000279306 lnc-HIST3H2A-2 piR-56480-005 CICP26 C1orf35 MRPL55 H3-4 ZNF678 OBSCN
GH01J228445 Enhancer 0.9 FANTOM5 ENCODE 4.5 +296.4 296374 1.1 ZBTB40 USF1 SAP30 HDAC2 POLR2A EZH2 USF2 MXI1 POU2F2 IKZF1 TRIM17 OBSCN TRIM11 ENSG00000231563 OBSCN-AS1 WNT3A GJC2 H2AW RPL23AP15 lnc-HIST3H3-1
GH01J228205 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.7 +58.7 58666 6.3 ZIC2 ZNF341 KDM5B POLR2A FOS POLR2G SMARCB1 MAZ STAT1 GLIS1 OBSCN RNF187 TRIM17 GJC2 OBSCN-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJC2

Top Transcription factor binding sites by QIAGEN in the GJC2 gene promoter:
  • AP-4
  • ATF6
  • c-Myc
  • CUTL1
  • GCNF
  • GCNF-1
  • GCNF-2
  • HEN1
  • Max
  • YY1

Genomic Locations for GJC2 Gene

Genomic Locations for GJC2 Gene
chr1:228,149,714-228,159,826
(GRCh38/hg38)
Size:
10,113 bases
Orientation:
Plus strand
chr1:228,337,415-228,347,527
(GRCh37/hg19)
Size:
10,113 bases
Orientation:
Plus strand

Genomic View for GJC2 Gene

Genes around GJC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJC2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GJC2 Gene

Proteins for GJC2 Gene

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  • Protein details for GJC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T442-CXG2_HUMAN
    Recommended name:
    Gap junction gamma-2 protein
    Protein Accession:
    Q5T442
    Secondary Accessions:
    • O43440
    • Q7Z7J2
    • Q8IWJ9

    Protein attributes for GJC2 Gene

    Size:
    439 amino acids
    Molecular mass:
    47002 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with TJP1 (By similarity).
    SequenceCaution:
    • Sequence=AAB94511.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH35840.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for GJC2 Gene

Protein Expression for GJC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GJC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJC2 Gene

Domains & Families for GJC2 Gene

Gene Families for GJC2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for GJC2 Gene

Blocks:
  • Connexin, N terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GJC2 Gene

GenScript: Design optimal peptide antigens:
  • GJA12 (B9U3U6_HUMAN)
  • Gap junction alpha-12 protein (CXG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T442

UniProtKB/Swiss-Prot:

CXG2_HUMAN :
  • Belongs to the connexin family. Gamma-type subfamily.
Family:
  • Belongs to the connexin family. Gamma-type subfamily.
genes like me logo Genes that share domains with GJC2: view

Function for GJC2 Gene

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

Molecular function for GJC2 Gene

UniProtKB/Swiss-Prot 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. May play a role in myelination in central and peripheral nervous systems.

Phenotypes From GWAS Catalog for GJC2 Gene

Gene Ontology (GO) - Molecular Function for GJC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity IEA --
GO:1903763 gap junction channel activity involved in cell communication by electrical coupling IMP 17344063
genes like me logo Genes that share ontologies with GJC2: view
genes like me logo Genes that share phenotypes with GJC2: view

Human Phenotype Ontology for GJC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJC2 Gene

MGI Knock Outs for GJC2:
  • Gjc2 Gjc2<tm1Paul>
  • Gjc2 Gjc2<tm1(EGFP)Kwi>

Animal Model Products

CRISPR Products

miRNA for GJC2 Gene

miRTarBase miRNAs that target GJC2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJC2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GJC2 Gene

Localization for GJC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJC2 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GJC2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GJC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005921 gap junction IMP 17344063
GO:0005922 connexin complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJC2: view

Pathways & Interactions for GJC2 Gene

genes like me logo Genes that share pathways with GJC2: view

Pathways by source for GJC2 Gene

1 BioSystems pathway for GJC2 Gene
1 Qiagen pathway for GJC2 Gene
  • Signaling in Gap Junctions

Gene Ontology (GO) - Biological Process for GJC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation IEA --
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling IEA --
GO:0007420 brain development IEA --
GO:0009636 response to toxic substance IEA --
genes like me logo Genes that share ontologies with GJC2: view

No data available for SIGNOR curated interactions for GJC2 Gene

Drugs & Compounds for GJC2 Gene

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  1. Drug

(9) Drugs for GJC2 Gene - From: DGIdb, IUPHAR, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flufenamic acid Approved Pharma Channel blocker, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
Carbenoxolone Experimental Pharma Inhibitor 0
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Activator, Full agonist, Agonist, Inhibitor, Antagonist, Channel blocker 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0

(5) Tocris Compounds for GJC2 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 955091-53-9
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase 7421-40-1
Gap 26 Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release 197250-15-0
Gap 27 Selective gap junction blocker 198284-64-9
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide 1315378-72-3
genes like me logo Genes that share compounds with GJC2: view

Transcripts for GJC2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GJC2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJC2

Alternative Splicing Database (ASD) splice patterns (SP) for GJC2 Gene

No ASD Table

Relevant External Links for GJC2 Gene

GeneLoc Exon Structure for
GJC2

Expression for GJC2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GJC2 Gene

mRNA expression in normal human tissues for GJC2 Gene
mRNA expression by BioGPS for GJC2 GenemRNA expression by GTEx for GJC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJC2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x10.9) and Brain - Substantia nigra (x6.0).

Protein differential expression in normal tissues from HIPED for GJC2 Gene

This gene is overexpressed in Serum (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GJC2 Gene



Protein tissue co-expression partners for GJC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GJC2

SOURCE GeneReport for Unigene cluster for GJC2 Gene:

Hs.100072

mRNA Expression by UniProt/SwissProt for GJC2 Gene:

Q5T442-CXG2_HUMAN
Tissue specificity: Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.

Evidence on tissue expression from TISSUES for GJC2 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GJC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
Thorax:
  • chest wall
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GJC2: view

Orthologs for GJC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia GJC2 31 30
  • 99.54 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia GJC2 31 30
  • 81.68 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia GJC2 30
  • 81.4 (n)
mouse
(Mus musculus)
 Mammalia Gjc2 17 31 30
  • 80.59 (n)
rat
(Rattus norvegicus)
 Mammalia Gjc2 30
  • 79.83 (n)
oppossum
(Monodelphis domestica)
 Mammalia GJC2 31
  • 65 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves GJC2 31
  • 57 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia GJC2 31
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.2895 30
zebrafish
(Danio rerio)
 Actinopterygii cx47.1 31
  • 53 (a)
 OneToOne
Species where no ortholog for GJC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJC2 Gene

ENSEMBL:
Gene Tree for GJC2 (if available)
TreeFam:
Gene Tree for GJC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GJC2: view image

Paralogs for GJC2 Gene

Paralogs for GJC2 Gene

(6) SIMAP similar genes for GJC2 Gene using alignment to 2 proteins:

  • CXG2_HUMAN
  • B9U3U6_HUMAN
genes like me logo Genes that share paralogs with GJC2: view

Variants for GJC2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJC2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
625200 Pathogenic: Intellectual disability 228,157,864(+) AT/A FRAMESHIFT_VARIANT
635342 Likely Pathogenic: Pelizaeus-Merzbacher disease 228,158,347(+) C/CA FRAMESHIFT_VARIANT
643794 Uncertain Significance: Spastic paraplegia 228,157,845(+) G/A SYNONYMOUS_VARIANT
644728 Uncertain Significance: Spastic paraplegia 228,158,224(+) GA/AT MISSENSE_VARIANT
646345 Uncertain Significance: Spastic paraplegia 228,158,089(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GJC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GJC2 Gene

Variant ID Type Subtype PubMed ID
dgv105n67 CNV gain 20364138
dgv839n54 CNV loss 21841781
esv32853 CNV gain 17666407
nsv1160102 CNV deletion 26073780
nsv473804 CNV novel sequence insertion 20440878
nsv523935 CNV loss 19592680
nsv549290 CNV loss 21841781
nsv549291 CNV loss 21841781
nsv826908 CNV gain 20364138
nsv827019 CNV loss 20364138
nsv827031 CNV gain 20364138
nsv952137 CNV deletion 24416366

Variation tolerance for GJC2 Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJC2 Gene

Human Gene Mutation Database (HGMD)
GJC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJC2 Gene

Disorders for GJC2 Gene

MalaCards: The human disease database

(39) MalaCards diseases for GJC2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GJC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXG2_HUMAN
  • 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. {ECO:0000269 PubMed:15192806}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:19056803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lymphatic malformation 3 (LMPHM3) [MIM:613480]: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM3 is an autosomal dominant form with variable severity and reduced penetrance. Affected individuals manifest lymphedema of the lower limbs and some patients have lymphedema of the hands. {ECO:0000269 PubMed:20537300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GJC2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GJC2: view

No data available for Genatlas for GJC2 Gene

Publications for GJC2 Gene

  1. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. (PMID: 19056803) Orthmann-Murphy JL … Pareyson D (Brain : a journal of neurology 2009) 2 3 4 23 54
  2. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. (PMID: 15192806) Uhlenberg B … Gärtner J (American journal of human genetics 2004) 3 4 23 54
  3. GJC2 missense mutations cause human lymphedema. (PMID: 20537300) Ferrell RE … Finegold DN (American journal of human genetics 2010) 3 4 54
  4. Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. (PMID: 19423250) Wang J … Jiang Y (Brain & development 2010) 3 23 54
  5. Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. (PMID: 18521858) Ruf N … Uhlenberg B (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 23 54

ExternalLinks

View latest publications for GJC2 gene in Mastermind

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