This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolyticall... See more...

Aliases for ARTN Gene

Aliases for ARTN Gene

  • Artemin 2 3 4 5
  • Neublastin 2 3 4
  • EVN 2 3 4
  • ENOVIN 2 3
  • NBN 2 3
  • Neurotrophic Factor 2
  • Enovin 4
  • ARTN 5
  • ART 3

External Ids for ARTN Gene

Previous GeneCards Identifiers for ARTN Gene

  • GC01P044237
  • GC01P043399
  • GC01P043828
  • GC01P043812
  • GC01P044068
  • GC01P044171
  • GC01P044398
  • GC01P042517

Summaries for ARTN Gene

Entrez Gene Summary for ARTN Gene

  • This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. This protein has also been shown to promote tumor growth, metastasis, and drug resistance in mammary carcinoma. [provided by RefSeq, Aug 2016]

GeneCards Summary for ARTN Gene

ARTN (Artemin) is a Protein Coding gene. Diseases associated with ARTN include Burning Mouth Syndrome and Cerebral Ventricle Cancer. Among its related pathways are GDNF-Family Ligands and Receptor Interactions and RET signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and growth factor activity. An important paralog of this gene is NRTN.

UniProtKB/Swiss-Prot Summary for ARTN Gene

  • Ligand for the GFR-alpha-3-RET receptor complex but can also activate the GFR-alpha-1-RET receptor complex. Supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain. Strong attractant of gut hematopoietic cells thus promoting the formation Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue.

Gene Wiki entry for ARTN Gene

Additional gene information for ARTN Gene

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

Genomics for ARTN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARTN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARTN on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the ARTN gene promoter:
  • AP-4
  • ATF
  • Egr-2
  • MZF-1

Genomic Locations for ARTN Gene

Genomic Locations for ARTN Gene
chr1:43,933,320-43,937,240
(GRCh38/hg38)
Size:
3,921 bases
Orientation:
Plus strand
chr1:44,398,992-44,402,913
(GRCh37/hg19)
Size:
3,922 bases
Orientation:
Plus strand

Genomic View for ARTN Gene

Genes around ARTN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARTN Gene

Proteins for ARTN Gene

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

    Protein Symbol:
    Q5T4W7-ARTN_HUMAN
    Recommended name:
    Artemin
    Protein Accession:
    Q5T4W7
    Secondary Accessions:
    • D3DPY1
    • D3DPY3
    • O95441
    • O96030
    • Q6P6A3

    Protein attributes for ARTN Gene

    Size:
    220 amino acids
    Molecular mass:
    22878 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Binds to RET (By similarity).

    Three dimensional structures from OCA and Proteopedia for ARTN Gene

    Alternative splice isoforms for ARTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARTN Gene

Post-translational modifications for ARTN Gene

  • Glycosylation at Ser60 and Asn202
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARTN Gene

Domains & Families for ARTN Gene

Gene Families for ARTN Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ARTN Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature
ProtoNet:

Suggested Antigen Peptide Sequences for ARTN Gene

GenScript: Design optimal peptide antigens:
  • Neublastin (ARTN_HUMAN)
  • Artemin, isoform CRA_b (D3DPX9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T4W7

UniProtKB/Swiss-Prot:

ARTN_HUMAN :
  • Belongs to the TGF-beta family. GDNF subfamily.
Family:
  • Belongs to the TGF-beta family. GDNF subfamily.
genes like me logo Genes that share domains with ARTN: view

Function for ARTN Gene

Molecular function for ARTN Gene

UniProtKB/Swiss-Prot Function:
Ligand for the GFR-alpha-3-RET receptor complex but can also activate the GFR-alpha-1-RET receptor complex. Supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain. Strong attractant of gut hematopoietic cells thus promoting the formation Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue.

Phenotypes From GWAS Catalog for ARTN Gene

Gene Ontology (GO) - Molecular Function for ARTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA,TAS 9883723
GO:0005515 protein binding IPI 16765900
GO:0008083 growth factor activity IBA 21873635
genes like me logo Genes that share ontologies with ARTN: view
genes like me logo Genes that share phenotypes with ARTN: view

Animal Models for ARTN Gene

MGI Knock Outs for ARTN:

Animal Model Products

CRISPR Products

miRNA for ARTN Gene

miRTarBase miRNAs that target ARTN

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARTN Gene

Localization for ARTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARTN Gene

Secreted.

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 ARTN gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ARTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IBA 21873635
genes like me logo Genes that share ontologies with ARTN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARTN Gene

Pathways & Interactions for ARTN Gene

PathCards logo

SuperPathways for ARTN Gene

SuperPathway Contained pathways
1 RET signaling
2 GDNF-Family Ligands and Receptor Interactions
.41
.41
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Innate Immune System
genes like me logo Genes that share pathways with ARTN: view

Pathways by source for ARTN Gene

1 GeneGo (Thomson Reuters) pathway for ARTN Gene
  • Development GDNF family signaling
1 Qiagen pathway for ARTN Gene
  • GDNF-Family Ligands and Receptor Interactions

SIGNOR curated interactions for ARTN Gene

Activates:

Gene Ontology (GO) - Biological Process for ARTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction TAS 9883723
GO:0007405 neuroblast proliferation TAS 9883723
GO:0007411 axon guidance IEA,TAS --
GO:0007422 peripheral nervous system development IEA,IBA 21873635
genes like me logo Genes that share ontologies with ARTN: view

Drugs & Compounds for ARTN Gene

(2) Drugs for ARTN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ARTN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARTN: view

Transcripts for ARTN Gene

mRNA/cDNA for ARTN Gene

5 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
11 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 ARTN

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: - - -
SP2: - - -
SP3:
SP4: -

Relevant External Links for ARTN Gene

GeneLoc Exon Structure for
ARTN

Expression for ARTN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Prostate (x4.8).

Protein differential expression in normal tissues from HIPED for ARTN Gene

This gene is overexpressed in Placenta (69.0).

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



Protein tissue co-expression partners for ARTN Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for ARTN Gene:

Hs.632404

mRNA Expression by UniProt/SwissProt for ARTN Gene:

Q5T4W7-ARTN_HUMAN
Tissue specificity: Ubiquitous. Expressed at high levels in peripheral tissues including prostate, placenta, pancreas, heart, kidney, pituitary gland, lung and testis. Expressed at low levels in the brain.

Evidence on tissue expression from TISSUES for ARTN Gene

  • Nervous system(4.6)
  • Muscle(2.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with ARTN: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ARTN Gene

Orthologs for ARTN Gene

This gene was present in the common ancestor of chordates.

Orthologs for ARTN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARTN 30 31
  • 99.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARTN 30 31
  • 88.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Artn 30
  • 80.76 (n)
Mouse
(Mus musculus)
Mammalia Artn 30 17 31
  • 80.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARTN 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARTN 31
  • 53 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARTN 31
  • 27 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARTN 31
  • 46 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii artna 31
  • 48 (a)
OneToOne
Species where no ortholog for ARTN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ARTN Gene

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

Paralogs for ARTN Gene

Paralogs for ARTN Gene

(1) SIMAP similar genes for ARTN Gene using alignment to 5 proteins:

  • ARTN_HUMAN
  • D3DPX9_HUMAN
  • E9PIK2_HUMAN
  • E9PLG3_HUMAN
  • E9PN22_HUMAN
genes like me logo Genes that share paralogs with ARTN: view

Variants for ARTN Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2242637 - p.Gln19Arg

Additional dbSNP identifiers (rs#s) for ARTN Gene

Variation tolerance for ARTN Gene

Gene Damage Index Score: 0.18; 3.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARTN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARTN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ARTN Gene

Disorders for ARTN Gene

MalaCards: The human disease database

(10) MalaCards diseases for ARTN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
burning mouth syndrome
  • orodynia
cerebral ventricle cancer
  • cerebral ventricle neoplasm
cerebrum cancer
  • cerebral cancer
supratentorial cancer
  • brain neoplasm, supratentorial
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search ARTN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARTN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ARTN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARTN Gene

Publications for ARTN Gene

  1. Artemin, a novel member of the GDNF ligand family, supports peripheral and central neurons and signals through the GFRalpha3-RET receptor complex. (PMID: 9883723) Baloh RH … Milbrandt J (Neuron 1998) 2 3 4 23
  2. Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease. (PMID: 18970938) Fernandez RM … Borrego S (Journal of pediatric surgery 2008) 3 23 41
  3. Structure of artemin complexed with its receptor GFRalpha3: convergent recognition of glial cell line-derived neurotrophic factors. (PMID: 16765900) Wang X … Garcia KC (Structure (London, England : 1993) 2006) 3 4 23
  4. In vivo protection of nigral dopamine neurons by lentiviral gene transfer of the novel GDNF-family member neublastin/artemin. (PMID: 10673327) Rosenblad C … Johansen TE (Molecular and cellular neurosciences 2000) 3 4 23
  5. Enovin, a member of the glial cell-line-derived neurotrophic factor (GDNF) family with growth promoting activity on neuronal cells. Existence and tissue-specific expression of different splice variants. (PMID: 10583383) Masure S … Gordon RD (European journal of biochemistry 1999) 3 4 23

Products for ARTN Gene

Sources for ARTN Gene