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] See more...

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 Occupational Dermatitis and Fiedler's Myocarditis. Gene Ontology (GO) annotations related to this gene include hormone activity and type 2 galanin receptor binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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 CraniofacialAtlas 511.9 +1.3 1305 2 ZNF10 ZIC2 ZNF423 ZBTB26 ZNF341 POLR2A SP2 ZBTB17 GABPA YY1 SPX PYROXD1 GYS2 piR-39858-115
GH12J021526 Promoter 0.8 EPDnew 500.7 0.0 -16 0.1 FOS CEBPG CEBPB PBX2 JUND PKNOX1 ATF4 ETV1 MEIS2 HLF SPX RF01045-030
GH12J021528 Promoter 0.7 EPDnew 500.7 +0.1 104 0.1 JUND PKNOX1 CEBPG ATF4 ETV1 MEIS2 CEBPB ATF3 GATAD2A FOXA1 SPX piR-39858-115
GH12J021559 Enhancer 0.8 Ensembl ENCODE 32.7 +33.9 33904 0.8 TCF12 FOXA2 FOS FOSL2 CEBPB NR3C1 STAT3 RAD21 RXRA MAX SPX GYS2 piR-39858-115 L13713-048 ENSG00000285854
GH12J021654 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +130.7 130705 4 EP300 TCF12 SIN3A MYC NRF1 USF1 SP1 PHF8 ZNF10 ZIC2 ENSG00000285854 LDHB ENSG00000256973 ENSG00000256615 SPX GYS2 lnc-KCNJ8-2
- 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

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

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 StructureGene Density

RefSeq DNA sequence for SPX Gene

Proteins for SPX Gene

  • 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

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

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPX Gene

Function for SPX Gene

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

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
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 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

PathCards logo

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)
STRING Interaction Network
Selected Interacting proteins: ENSP00000256969 Q9BT56-SPXN_HUMAN for SPX Gene via STRING IID

;

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:0032099 negative regulation of appetite ISS --
GO:0035814 negative regulation of renal sodium excretion 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

No Compound Related Data Available

Transcripts for SPX Gene

mRNA/cDNA for SPX Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
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

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

Expression for SPX Gene

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
genes like me logo Genes that share expression patterns with SPX: view

No data available for 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 30
  • 99.71 (n)
C12orf39 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf39 31 30
  • 84.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C27H12orf39 30
  • 84.2 (n)
C12ORF39 31
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC691138 30
  • 76.44 (n)
mouse
(Mus musculus)
Mammalia B230216G23Rik 31 30
  • 76.15 (n)
OneToOne
Spx 17
chicken
(Gallus gallus)
Aves C12orf39 31
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C12orf39 31
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC101882535 30
  • 55 (n)
C4H12orf39 31
  • 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

Additional dbSNP identifiers (rs#s) for SPX Gene

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

Disorders for SPX Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
occupational dermatitis
  • occupational allergic contact dermatitis
fiedler's myocarditis
  • fiedler myocarditis
noonan syndrome 9
  • ns9
lidocaine allergy
  • lidoderm allergy
locked-in syndrome
  • locked in syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SPX in MalaCards View complete list of genes associated with diseases
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 54
  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 54
  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 54
  4. C12ORF39, a novel secreted protein with a typical amidation processing signal. (PMID: 19193193) Wan B … Han ZG (Bioscience reports 2009) 3 4 54
  5. Evolutionary sequence modeling for discovery of peptide hormones. (PMID: 19132080) Sonmez K … Toll L (PLoS computational biology 2009) 3 4 54

Products for SPX Gene

Sources for SPX Gene