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SPX Gene(Protein Coding)

Spexin Hormone

GCID:
GC12P021526
GIFtS:
32
Genes Participants
UDN Logo

Aliases for SPX Gene

Aliases for SPX Gene

  • Spexin Hormone 2 3 4 5
  • Neuropeptide Q 2 3 4
  • C12orf39 3 4
  • Spexin 3 4
  • NPQ 3 4
  • Chromosome 12 Open Reading Frame 39 2

External Ids for SPX Gene

Previous HGNC Symbols for SPX Gene

  • C12orf39

Summaries for SPX Gene

Entrez Gene Summary for SPX Gene

  • The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for SPX Gene

SPX (Spexin Hormone) is a Protein Coding gene. Diseases associated with SPX include Noonan Syndrome 9 and Noonan Syndrome 10. Gene Ontology (GO) annotations related to this gene include hormone activity and type 2 galanin receptor binding.

UniProtKB/Swiss-Prot for SPX Gene

  • Plays a role as a central modulator of cardiovascular and renal function and nociception. Plays also a role in energy metabolism and storage. Inhibits adrenocortical cell proliferation with minor stimulation on corticosteroid release (By similarity).
  • Spexin-1: Intracerebroventricular administration of the peptide induces an increase in arterial blood pressure, a decrease in both heart rate and renal excretion and delayed natriuresis. Intraventricular administration of the peptide induces antinociceptive activity. Also induces contraction of muscarinic-like stomach smooth muscles. Intraperitoneal administration of the peptide induces a reduction in food consumption and body weight. Inhibits long chain fatty acid uptake into adipocytes (By similarity). Acts as a ligand for galanin receptors GALR2 and GALR3 (PubMed:17284679, PubMed:24517231).
  • Spexin-2: Intracerebroventricular administration of the peptide induces a decrease in heart rate, but no change in arterial pressure, and an increase in urine flow rate. Intraventricular administration of the peptide induces antinociceptive activity (By similarity).

Additional gene information for SPX Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPX Gene

Genomics for SPX Gene

GeneHancer (GH) Regulatory Elements for SPX Gene

Promoters and enhancers for SPX 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
GH12J021527 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 611.9 +1.5 1505 1.6 MAFK SP7 GLIS2 ZBTB8A ZNF600 ZIC2 POLR2A ZSCAN4 PATZ1 ZNF501 SPX PYROXD1 GYS2 GC12M021550
GH12J021526 Promoter 0.8 EPDnew 600.7 0.0 -16 0.1 CEBPG PKNOX1 GATAD2A CEBPB JUND HLF SPX GOLT1B
GH12J021528 Promoter 0.8 EPDnew 600.7 +0.1 104 0.1 CEBPG GATAD2A PKNOX1 JUND CEBPB SPX GC12M021550
GH12J021525 Enhancer 0.2 Ensembl 600.7 -1.0 -995 0.2 SPX GOLT1B
GH12J021559 Enhancer 0.8 Ensembl ENCODE 32.7 +33.9 33904 1.2 SP1 FOXA2 CEBPB YY1 FOSL2 RAD21 HNF4A RXRA MAX ATF3 SPX GYS2 GC12M021550 GC12M021587 ENSG00000285854
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPX on UCSC Golden Path with GeneCards custom track

Genomic Locations for SPX Gene

Genomic Locations for SPX Gene
chr12:21,526,296-21,541,249
(GRCh38/hg38)
Size:
14,954 bases
Orientation:
Plus strand
chr12:21,679,241-21,690,311
(GRCh37/hg19)
Size:
11,071 bases
Orientation:
Plus strand

Genomic View for SPX Gene

Genes around SPX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SPX Gene

Proteins for SPX Gene

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

    Protein Symbol:
    Q9BT56-SPXN_HUMAN
    Recommended name:
    Spexin
    Protein Accession:
    Q9BT56
    Secondary Accessions:
    • B3KND6

    Protein attributes for SPX Gene

    Size:
    116 amino acids
    Molecular mass:
    13302 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPX Gene

Protein Expression for SPX Gene

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

Post-translational modifications for SPX Gene

No Post-translational modifications

Other Protein References for SPX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPX Gene

Domains & Families for SPX Gene

Gene Families for SPX Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for SPX Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPX Gene

GenScript: Design optimal peptide antigens:
  • NPQ (SPXN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPX: view

No data available for UniProtKB/Swiss-Prot for SPX Gene

Function for SPX Gene

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Molecular function for SPX Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a central modulator of cardiovascular and renal function and nociception. Plays also a role in energy metabolism and storage. Inhibits adrenocortical cell proliferation with minor stimulation on corticosteroid release (By similarity).
UniProtKB/Swiss-Prot Function:
Spexin-1: Intracerebroventricular administration of the peptide induces an increase in arterial blood pressure, a decrease in both heart rate and renal excretion and delayed natriuresis. Intraventricular administration of the peptide induces antinociceptive activity. Also induces contraction of muscarinic-like stomach smooth muscles. Intraperitoneal administration of the peptide induces a reduction in food consumption and body weight. Inhibits long chain fatty acid uptake into adipocytes (By similarity). Acts as a ligand for galanin receptors GALR2 and GALR3 (PubMed:17284679, PubMed:24517231).
UniProtKB/Swiss-Prot Function:
Spexin-2: Intracerebroventricular administration of the peptide induces a decrease in heart rate, but no change in arterial pressure, and an increase in urine flow rate. Intraventricular administration of the peptide induces antinociceptive activity (By similarity).
UniProtKB/Swiss-Prot Induction:
Down-regulated in omental and subcutaneous fat of obese subjects.

Gene Ontology (GO) - Molecular Function for SPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0005184 neuropeptide hormone activity IEA,IMP 17284679
genes like me logo Genes that share ontologies with SPX: view
genes like me logo Genes that share phenotypes with SPX: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for SPX - Now 50% OFF >
  • * SPX as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SPX tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for SPX

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPX Gene

Localization for SPX Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPX Gene

Secreted. Secreted, extracellular space. Cytoplasmic vesicle, secretory vesicle. Note=Secreted via the classical ER/Golgi-dependent pathway into the extracellular medium largely as a full-length protein without the signal peptide, and not as a hydrolyzed and amidated peptide (PubMed:19193193 and PubMed:17284679). Localized extracellularly surrounding the villous trophoblastic cells. Detected in the serum.

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 SPX gene
Compartment Confidence
extracellular 5
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA,IDA 17284679
GO:0005737 cytoplasm IBA 21873635
GO:0030133 transport vesicle IEA --
GO:0031045 dense core granule IDA 17284679
genes like me logo Genes that share ontologies with SPX: view

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

Pathways & Interactions for SPX Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
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SuperPathways for SPX Gene

No Data Available

Interacting Proteins for SPX Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000256969%0d9606.ENSP00000481559%0d
Selected Interacting proteins: Q9BT56-SPXN_HUMAN ENSP00000256969 for SPX Gene via IID STRING

GPS-Prot Interaction Network for SPX

Gene Ontology (GO) - Biological Process for SPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003084 positive regulation of systemic arterial blood pressure ISS --
GO:0007165 signal transduction IEA --
GO:0010459 negative regulation of heart rate ISS --
GO:0010469 regulation of signaling receptor activity IEA --
GO:0032099 negative regulation of appetite ISS --
genes like me logo Genes that share ontologies with SPX: view

No data available for Pathways by source and SIGNOR curated interactions for SPX Gene

Drugs & Compounds for SPX Gene

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  1. Drug
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
No Compound Related Data Available

Transcripts for SPX Gene

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mRNA/cDNA for SPX Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(8) 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 SPX

Clone Products

  • Applied Biological Materials (abm): Clones for SPX - Now 50% OFF >
  • * SPX as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SPX tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for SPX

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

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f
SP1: - - - -
SP2: - -
SP3: - -
SP4: - -
SP5: -
SP6:

Relevant External Links for SPX Gene

GeneLoc Exon Structure for
SPX
ECgene alternative splicing isoforms for
SPX

Expression for SPX Gene

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  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

Protein differential expression in normal tissues from HIPED for SPX Gene

This gene is overexpressed in Testis (69.0).

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



Protein tissue co-expression partners for SPX Gene

NURSA nuclear receptor signaling pathways regulating expression of SPX Gene:

SPX

mRNA Expression by UniProt/SwissProt for SPX Gene:

Q9BT56-SPXN_HUMAN
Tissue specificity: Expressed in the type I glomic cells within the carotid body (at protein level). Expressed predominantly in pancreas, testis, kidney, brain and placenta. Expressed in submucosal layer of esophagus and stomach fundus.

Evidence on tissue expression from TISSUES for SPX Gene

  • Heart(5)
  • Nervous system(2.4)
  • Spleen(2.1)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPX Gene

Orthologs for SPX Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia C12H12orf39 34
  • 99.71 (n)
C12orf39 35
  • 99 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia C5H12orf39 35 34
  • 84.48 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia C27H12orf39 34
  • 84.2 (n)
C12ORF39 35
  • 82 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia LOC691138 34
  • 76.44 (n)
mouse
(Mus musculus)
 Mammalia B230216G23Rik 35 34
  • 76.15 (n)
 OneToOne
Spx 17
chicken
(Gallus gallus)
 Aves C12orf39 35
  • 57 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia C12orf39 35
  • 49 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii LOC101882535 34
  • 55 (n)
C4H12orf39 35
  • 49 (a)
 OneToOne
Species where no ortholog for SPX 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPX Gene

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

Paralogs for SPX Gene

No data available for Paralogs for SPX Gene

Variants for SPX Gene

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  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

Sequence variations from dbSNP and Humsavar for SPX Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000981497 -- 21,533,064(+) G/T downstream_transcript_variant
rs1001067841 -- 21,529,725(+) G/A intron_variant
rs1001351967 -- 21,529,994(+) C/G/T intron_variant
rs1001575007 -- 21,526,326(+) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1001582206 -- 21,533,408(+) T/A downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1054220 CNV gain 25217958
nsv528556 CNV gain 19592680
nsv557741 CNV gain 21841781
nsv557743 CNV gain 21841781

Variation tolerance for SPX Gene

Residual Variation Intolerance Score: 58.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPX Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SPX Gene

MalaCards: The human disease database

(3) MalaCards diseases for SPX Gene - From: DISEASES

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

Additional Disease Information for SPX

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

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

Publications for SPX Gene

  1. Spexin is a novel human peptide that reduces adipocyte uptake of long chain fatty acids and causes weight loss in rodents with diet-induced obesity. (PMID: 24550067) Walewski JL … Berk PD (Obesity (Silver Spring, Md.) 2014) 2 3 4 58
  2. Peptides derived from the prohormone proNPQ/spexin are potent central modulators of cardiovascular and renal function and nociception. (PMID: 22038051) Toll L … Kapusta DR (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2012) 2 3 4 58
  3. Coevolution of the spexin/galanin/kisspeptin family: Spexin activates galanin receptor type II and III. (PMID: 24517231) Kim DK … Seong JY (Endocrinology 2014) 3 4 58
  4. Evolutionary sequence modeling for discovery of peptide hormones. (PMID: 19132080) Sonmez K … Toll L (PLoS computational biology 2009) 3 4 58
  5. C12ORF39, a novel secreted protein with a typical amidation processing signal. (PMID: 19193193) Wan B … Han ZG (Bioscience reports 2009) 3 4 58

ExternalLinks

View latest publications for SPX gene in Mastermind

Products for SPX Gene

  • Addgene plasmids for SPX

Sources for SPX Gene

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