GJA1 Gene (Protein Coding)

Gap Junction Protein Alpha 1

GC06P121436
GIFtS:
52
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronize... See more...

Aliases for GJA1 Gene

Aliases for GJA1 Gene

  • Gap Junction Protein Alpha 1 2 3 5
  • Gap Junction Protein, Alpha 1, 43kDa 2 3
  • Gap Junction 43 KDa Heart Protein 3 4
  • Gap Junction Alpha-1 Protein 3 4
  • Connexin-43 3 4
  • GJAL 3 4
  • Gap Junction Protein, Alpha 1, 43kDa (Connexin 43) 2
  • Oculodentodigital Dysplasia (Syndactyly Type III) 2
  • Gap Junction Protein, Alpha-Like 2
  • Connexin 43 2
  • AVSD3 3
  • EKVP3 3
  • HLHS1 3
  • PPKCA 3
  • CMDR 3
  • CX43 3
  • EKVP 3
  • ODDD 3
  • Cx43 4
  • HSS 3

External Ids for GJA1 Gene

Previous HGNC Symbols for GJA1 Gene

  • ODDD
  • GJAL

Previous GeneCards Identifiers for GJA1 Gene

  • GC06P121527
  • GC06P121714
  • GC06P121737
  • GC06P121798
  • GC06P119340
  • GC06P121756

Summaries for GJA1 Gene

Entrez Gene Summary for GJA1 Gene

  • This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

GeneCards Summary for GJA1 Gene

GJA1 (Gap Junction Protein Alpha 1) is a Protein Coding gene. Diseases associated with GJA1 include Oculodentodigital Dysplasia and Syndactyly, Type Iii. Among its related pathways are Vesicle-mediated transport and Wnt Signaling Pathway Netpath. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein domain specific binding. An important paralog of this gene is GJA3.

UniProtKB/Swiss-Prot Summary for GJA1 Gene

  • Gap junction protein that acts as a regulator of bladder capacity. A 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 critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity).

Tocris Summary for GJA1 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 GJA1 Gene

Additional gene information for GJA1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJA1 Gene

Genomics for GJA1 Gene

GeneHancer (GH) Regulatory Elements for GJA1 Gene

Promoters and enhancers for GJA1 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
GH06J121434 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 760.5 +2.4 2429 7.2 SIN3A ZNF362 MYC MAX ZNF121 POU5F1 SP1 MAFK SP7 ZSCAN21 GJA1 RNU2-8P TBC1D32 RF00487-002 SNORD3@L5
GH06J121443 Promoter/Enhancer 0.8 EPDnew Ensembl dbSUPER 750.4 +7.9 7937 0.2 SNORD3@L5 GJA1 RF00487-002
GH06J121518 Enhancer 1.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8 +85.9 85923 6 ZBTB33 POLR2A REST ATF3 SP1 FOS FOSL2 SIN3A JUN JUND RNU4-76P RNU2-8P GJA1 RF00017-5753 RF00015-066
GH06J121931 Enhancer 1.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas 6.9 +497.2 497224 2.8 MLX SP1 POLR2A ZBTB17 USF1 RCOR1 JUND SIN3A NANOG NR2F6 GJA1 piR-36588-388 lnc-HSF2-4 LOC105377979
GH06J121884 Enhancer 1 Ensembl ENCODE 6.2 +449.9 449946 2.6 NR2F6 CREB1 MIXL1 BCL6B RERE ELF3 TFE3 CEBPG PPARG HNF1A LOC105377978 GJA1 TBC1D32 HSALNG0053174 LOC105377979
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GJA1 gene promoter:
  • Cart-1
  • COMP1
  • CUTL1
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for GJA1 Gene

Genomic Locations for GJA1 Gene
chr6:121,435,577-121,449,744
(GRCh38/hg38)
Size:
14,168 bases
Orientation:
Plus strand
chr6:121,756,745-121,770,873
(GRCh37/hg19)
Size:
14,129 bases
Orientation:
Plus strand

Genomic View for GJA1 Gene

Genes around GJA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GJA1 Gene

Proteins for GJA1 Gene

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  • Protein details for GJA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17302-CXA1_HUMAN
    Recommended name:
    Gap junction alpha-1 protein
    Protein Accession:
    P17302
    Secondary Accessions:
    • B2R5U9
    • Q6FHU1
    • Q9Y5I8

    Protein attributes for GJA1 Gene

    Size:
    382 amino acids
    Molecular mass:
    43008 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts (via C-terminus) with TJP1 (By similarity). Interacts (via C-terminus) with SRC (via SH3 domain) (By similarity). Interacts (not ubiquitinated) with UBQLN4 (via UBA domain) (By similarity). Interacts with SGSM3 and CNST (By similarity). Interacts with RIC1/CIP150. Interacts with CSNK1D. Interacts with NOV (PubMed:15181016, PubMed:15213231). Interacts with TMEM65 (By similarity).

    Three dimensional structures from OCA and Proteopedia for GJA1 Gene

neXtProt entry for GJA1 Gene

Protein Expression for GJA1 Gene

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

Post-translational modifications for GJA1 Gene

  • Phosphorylated at Ser-368 by PRKCG; phosphorylation induces disassembly of gap junction plaques and inhibition of gap junction activity (By similarity). Phosphorylation at Ser-325, Ser-328 and Ser-330 by CK1 modulates gap junction assembly. Phosphorylation at Ser-368 by PRKCD triggers its internalization into small vesicles leading to proteasome-mediated degradation (By similarity).
  • Sumoylated with SUMO1, SUMO2 and SUMO3, which may regulate the level of functional Cx43 gap junctions at the plasma membrane. May be desumoylated by SENP1 or SENP2.
  • S-nitrosylation at Cys-271 is enriched at the muscle endothelial gap junction in arteries, it augments channel permeability and may regulate of smooth muscle cell to endothelial cell communication.
  • Ubiquitination at Lys9 and Lys303
  • Modification sites at PhosphoSitePlus

Other Protein References for GJA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GJA1 Gene

Domains & Families for GJA1 Gene

Gene Families for GJA1 Gene

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

Protein Domains for GJA1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GJA1 Gene

GenScript: Design optimal peptide antigens:
  • Gap junction protein (B4DN50_HUMAN)
  • Gap junction 43 kDa heart protein (CXA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17302

UniProtKB/Swiss-Prot:

CXA1_HUMAN :
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
Family:
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
genes like me logo Genes that share domains with GJA1: view

Function for GJA1 Gene

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  2. CRISPR
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Molecular function for GJA1 Gene

UniProtKB/Swiss-Prot Function:
Gap junction protein that acts as a regulator of bladder capacity. A 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 critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity).
GENATLAS Biochemistry:
gap junction protein,alpha 1,43kDa,connexin 43),expressed in the heart left ventricule,liver,peripheral nervous system,monomer of the connexon (six subunits),underexpressed in breast cancer cell (marker for detecting early oncogenesis in the breast)

Phenotypes From GWAS Catalog for GJA1 Gene

Gene Ontology (GO) - Molecular Function for GJA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005243 gap junction channel activity IDA 1696265
GO:0005515 protein binding IPI 9707407
GO:0015075 ion transmembrane transporter activity IDA 1696265
GO:0015631 tubulin binding IDA 22558917
genes like me logo Genes that share ontologies with GJA1: view
genes like me logo Genes that share phenotypes with GJA1: view

Human Phenotype Ontology for GJA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJA1 Gene

MGI Knock Outs for GJA1:
  • Gja1 Gja1<tm2(Gjb1)Kwi>
  • Gja1 Gja1<tm1.1Gfi>
  • Gja1 Gja1<tm3(Gja5)Kwi>
  • Gja1 Gja1<tm6.1(Gjb3)Kwi>
  • Gja1 Gja1<tm1Kdr>
  • Gja1 Gja1<tm9.2Kwi>
  • Gja1 Gja1<tm1.1Kwi>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for GJA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GJA1 Gene

Localization for GJA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJA1 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. Endoplasmic reticulum. Note=Localizes at the intercalated disk (ICD) in cardiomyocytes and the proper localization at ICD is dependent on TMEM65. {ECO:0000250 UniProtKB:P23242}.

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 GJA1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
cytoskeleton 4
endoplasmic reticulum 4
golgi apparatus 4
cytosol 3
lysosome 3
extracellular 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GJA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 15919068
GO:0005741 mitochondrial outer membrane IEA --
genes like me logo Genes that share ontologies with GJA1: view

Pathways & Interactions for GJA1 Gene

genes like me logo Genes that share pathways with GJA1: view

SIGNOR curated interactions for GJA1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GJA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001764 neuron migration IEA --
GO:0001937 negative regulation of endothelial cell proliferation IEA --
GO:0001947 heart looping IEA --
genes like me logo Genes that share ontologies with GJA1: view

Drugs & Compounds for GJA1 Gene

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  1. Drug

(80) Drugs for GJA1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

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
Carvedilol Approved, Investigational Pharma Antagonist, Target, other 191
Carbenoxolone Experimental Pharma Inhibitor 0
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Activator, Full agonist, Agonist, Inhibitor, Antagonist, Channel blocker 0

(49) Additional Compounds for GJA1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Hydroxycarvedilol

(5) Tocris Compounds for GJA1 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

(3) ApexBio Compounds for GJA1 Gene

Compound Action Cas Number
GAP-134 Gap junction modifier 943134-39-2
GAP-134 Hydrochloride Gap-junction modifier,potent and selective 943133-81-1
Gap19 1507930-57-5
genes like me logo Genes that share compounds with GJA1: view

Transcripts for GJA1 Gene

Products:

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

mRNA/cDNA for GJA1 Gene

(1) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(391) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GJA1

Alternative Splicing Database (ASD) splice patterns (SP) for GJA1 Gene

No ASD Table

Relevant External Links for GJA1 Gene

GeneLoc Exon Structure for
GJA1
ECgene alternative splicing isoforms for
GJA1

Expression for GJA1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GJA1 Gene

mRNA expression in normal human tissues for GJA1 Gene
mRNA expression by GTEx for GJA1 GenemRNA expression by BioGPS for GJA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GJA1 Gene

This gene is overexpressed in Frontal cortex (24.6), Spinal cord (19.8), and Testis (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GJA1 Gene



NURSA nuclear receptor signaling pathways regulating expression of GJA1 Gene:

GJA1

SOURCE GeneReport for Unigene cluster for GJA1 Gene:

Hs.74471

mRNA Expression by UniProt/SwissProt for GJA1 Gene:

P17302-CXA1_HUMAN
Tissue specificity: Expressed in the heart and fetal cochlea.

Evidence on tissue expression from TISSUES for GJA1 Gene

  • Nervous system(5)
  • Heart(4.8)
  • Muscle(4.8)
  • Eye(3.5)
  • Skin(3.4)
  • Lung(3.1)
  • Adrenal gland(2.6)
  • Bone(2.6)
  • Thyroid gland(2.6)
  • Kidney(2.4)
  • Liver(2.3)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GJA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • pelvis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with GJA1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for GJA1 Gene

Orthologs for GJA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia GJA1 33 32
  • 99.48 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia GJA1 33
  • 98 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia GJA1 33
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia GJA1 33 32
  • 92.41 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia GJA1 33 32
  • 92.32 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gja1 17 32
  • 88.22 (n)
Gja6 33
  • 63 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Gja1 32
  • 87.96 (n)
chicken
(Gallus gallus)
 Aves GJA1 33 32
  • 82.15 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia GJA1 33
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia gja1 32
  • 77.92 (n)
African clawed frog
(Xenopus laevis)
 Amphibia gja1-A 32
zebrafish
(Danio rerio)
 Actinopterygii cx43 32 32
  • 72.89 (n)
cx40.8 33
  • 69 (a)
 OneToOne
Species where no ortholog for GJA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 GJA1 Gene

ENSEMBL:
Gene Tree for GJA1 (if available)
TreeFam:
Gene Tree for GJA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GJA1: view image

Paralogs for GJA1 Gene

Paralogs for GJA1 Gene

(16) SIMAP similar genes for GJA1 Gene using alignment to 1 proteins:

  • CXA1_HUMAN

Pseudogenes.org Pseudogenes for GJA1 Gene

genes like me logo Genes that share paralogs with GJA1: view

Variants for GJA1 Gene

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Sequence variations from dbSNP and Humsavar for GJA1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs104893961 pathogenic, Oculodentodigital dysplasia, Oculodentodigital dysplasia (ODDD) [MIM:164200] 121,446,897(+) A/C coding_sequence_variant, missense_variant
rs104893962 pathogenic, Oculodentodigital dysplasia, Oculodentodigital dysplasia (ODDD) [MIM:164200] 121,446,899(+) T/C coding_sequence_variant, missense_variant
rs104893963 pathogenic, Oculodentodigital dysplasia, Oculodentodigital dysplasia (ODDD) [MIM:164200] 121,446,908(+) G/A coding_sequence_variant, missense_variant
rs104893964 pathogenic, uncertain-significance, Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia (ODDD) [MIM:164200] 121,446,912(+) G/A coding_sequence_variant, missense_variant
rs104893965 pathogenic, Hypoplastic left heart syndrome 1, Atrioventricular septal defect and common atrioventricular junction, Atrioventricular septal defect 3 (AVSD3) [MIM:600309], Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550] 121,447,974(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for GJA1 Gene

Variant ID Type Subtype PubMed ID
esv3384624 CNV insertion 20981092
esv3890934 CNV gain 25118596
nsv969441 CNV duplication 23825009

Variation tolerance for GJA1 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJA1 Gene

Human Gene Mutation Database (HGMD)
GJA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJA1 Gene

Disorders for GJA1 Gene

MalaCards: The human disease database

(61) MalaCards diseases for GJA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GJA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXA1_HUMAN
  • Oculodentodigital dysplasia (ODDD) [MIM:164200]: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. {ECO:0000269 PubMed:12457340, ECO:0000269 PubMed:14729836, ECO:0000269 PubMed:15108203, ECO:0000269 PubMed:15637728, ECO:0000269 PubMed:16219735, ECO:0000269 PubMed:16222672, ECO:0000269 PubMed:16378922, ECO:0000269 PubMed:16709485, ECO:0000269 PubMed:16813608, ECO:0000269 PubMed:16816024, ECO:0000269 PubMed:17509830, ECO:0000269 PubMed:18161618, ECO:0000269 PubMed:19338053, ECO:0000269 PubMed:21670345, ECO:0000269 PubMed:23550541, ECO:0000269 PubMed:24508941, ECO:0000269 PubMed:28258662}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Oculodentodigital dysplasia, autosomal recessive (ODDD-AR) [MIM:257850]: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. {ECO:0000269 PubMed:16816024}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Syndactyly 3 (SDTY3) [MIM:186100]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected. {ECO:0000269 PubMed:14729836}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550]: A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. {ECO:0000269 PubMed:11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hallermann-Streiff syndrome (HSS) [MIM:234100]: A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases. {ECO:0000269 PubMed:14974090}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrioventricular septal defect 3 (AVSD3) [MIM:600309]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269 PubMed:11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Craniometaphyseal dysplasia, autosomal recessive (CMDR) [MIM:218400]: An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. {ECO:0000269 PubMed:23951358}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Erythrokeratodermia variabilis et progressiva 3 (EKVP3) [MIM:617525]: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. {ECO:0000269 PubMed:25398053}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Palmoplantar keratoderma and congenital alopecia 1 (PPKCA1) [MIM:104100]: A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients. {ECO:0000269 PubMed:25168385}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GJA1

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Publications for GJA1 Gene

  1. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. (PMID: 11741837) Liu XZ … Nance WE (Human molecular genetics 2001) 3 4 23 43 56
  2. Mutations of connexin43 in fetuses with congenital heart malformations. (PMID: 15978203) Chen P … Chang C (Chinese medical journal 2005) 3 4 43 56
  3. A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. (PMID: 16219735) Vasconcellos JP … Costa VP (Archives of ophthalmology (Chicago, Ill. : 1960) 2005) 3 4 23 56
  4. Connexin43 interacts with NOV: a possible mechanism for negative regulation of cell growth in choriocarcinoma cells. (PMID: 15181016) Gellhaus A … Winterhager E (The Journal of biological chemistry 2004) 3 4 23 56
  5. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. (PMID: 15108203) Kjaer KW … Tommerup N (American journal of medical genetics. Part A 2004) 3 4 23 56

ExternalLinks

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Products for GJA1 Gene

  • Addgene plasmids for GJA1

Sources for GJA1 Gene