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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C12orf39 Gene

protein-coding   GIFtS: 39
GCID: GC12P021679

chromosome 12 open reading frame 39
 Explore 4 diseases affiliated with
C12orf39 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C12orf39    

Aliases
for C12orf39 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 12 Open Reading Frame 391 2
NPQ1 2 3
Spexin1
MGC109461
Neuropeptide Q2

External Ids:    HGNC: 281391   Entrez Gene: 807632   Ensembl: ENSG000001345487   UniProtKB: Q9BT563   

Export aliases for C12orf39 gene to outside databases

Previous GC identifers: GC12P021574 GC12P021453


Summaries
for C12orf39 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: SPXN_HUMAN, Q9BT56
Function: Induces contraction of stomach muscle




Genomic Views
for C12orf39 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C12orf39 gene promoter:
         STAT5B   TBP   Sox5   CUTL1   POU3F2   C/EBPalpha   IRF-2   HFH-1   TGIF   NF-AT1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C12orf39

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf39


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p12.1   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.1

C12orf39 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf39 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P021679:  view genomic region     (about GC identifiers)

Start:
 21,679,241 bp from pter      End:
 21,690,311 bp from pter
Size:
 11,071 bases      Orientation:
 plus strand

Proteins
for C12orf39 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SPXN_HUMAN, Q9BT56 (See protein sequence)
Recommended Name: Spexin precursor  
Size: 116 amino acids; 13302 Da
Subcellular location: Secreted. Cytoplasmic vesicle, secretory vesicle
Secondary accessions: B3KND6

Explore the universe of human proteins at neXtProt for C12orf39: NX_Q9BT56

C12orf39 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_085049.1  
ENSEMBL proteins: 
 ENSP00000256969   ENSP00000440877  

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Uscn Proteins for C12orf39

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--
GO:0005634nucleus IDA--
GO:0005730NOT nucleolus IDA--
GO:0030133transport vesicle IEA--
GO:0043231intracellular membrane-bounded organelle IDA--


C12orf39 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for C12orf39

Protein Domains /
Families
for C12orf39 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q9BT56


Function
for C12orf39 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
Function Summary:

     UniProtKB/Swiss-Prot: SPXN_HUMAN, Q9BT56
Function: Induces contraction of stomach muscle

miRNA
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1 QIAGEN miScript miRNA Assays for microRNA that regulate C12orf39:
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Inhib. RNA
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In Situ Assay
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2 GenomeRNAi human phenotypes for C12orf39:
 Increased cell number in G2M,   Wnt reporter downregulated 


Pathways & Interactions
for C12orf39 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C12orf39

Drugs & Compounds
for C12orf39 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C12orf39
Search CenterWatch for drugs/clinical trials and news about C12orf39 / SPXN 

Transcripts
for C12orf39 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
REFSEQ mRNAs for C12orf39 gene: 
NM_030572.2  

Unigene Cluster for C12orf39:

Chromosome 12 open reading frame 39
Hs.130692  [show with all ESTs]
Unigene Representative Sequence: AK075342
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000256969(uc001rfa.1) ENST00000535033 ENST00000546199 ENST00000544637
ENST00000535139(uc009ziv.1) ENST00000543800(uc009ziw.1) ENST00000537527


miRNA
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Inhib. RNA
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Clone
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Additional cDNA sequence: 

AK027273.1 AK075342.1 AK311147.1 AK311217.1 BC004336.1 

7 DOTS entries:

DT.405326  DT.65287648  DT.121121776  DT.121121715  DT.121121779  DT.95157475  DT.91864363 

24/60 AceView cDNA sequences (see all 60):

BQ216128 AI590178 AI628995 AW242599 AI985275 AI357886 AI796722 AA774561 
AI948777 BX492053 AI671735 BI765315 AW015733 BE466344 CA429960 AA569948 
BX508540 AK027273 BF197624 BF197316 BU618991 AW300393 NM_030572 AI768038 

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf39 (see all 6)    About this scheme

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


ECgene alternative splicing isoforms for C12orf39

Expression
for C12orf39 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C12orf39 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAATTATTT

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)
About this image

C12orf39 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
Stem Cell Differentiation: 1 LifeMap Cell 
NameCategory
Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See C12orf39 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C12orf39

SOURCE GeneReport for Unigene cluster: Hs.130692

UniProtKB/Swiss-Prot: SPXN_HUMAN, Q9BT56
Tissue specificity: Expressed in submucosal layer of esophagus and stomach fundus. Expressed in brain, pancreas and
kidney

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In Situ
Assay Products: 
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Orthologs
for C12orf39 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
This gene was present in the common ancestor of chordates.

Orthologs for C12orf39 gene from 3/7 species (see all 7)    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
chicken
(Gallus gallus)		 Aves C12orf396
 Uncharacterized protein
 57(a)
 1 ↔ 1
 1(69282816-69286020)
African clawed frog
(Xenopus laevis)		 Amphibia BU901521.12   -- 78.05(n)    BU901521.1 
zebrafish
(Danio rerio)		 Actinopterygii si:dkey-13i19.76
 si:dkey-13i19.7
 50(a)
 1 ↔ 1
 4(15862602-15868415)
        Species with no ortholog for C12orf39

ENSEMBL Gene Tree for C12orf39 (if available)
TreeFam Gene Tree for C12orf39 (if available) 

Paralogs
for C12orf39 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

Genomic Variants
for C12orf39 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/122 NCBI SNPs in C12orf39 are shown (see all 122)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 12 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs341917251,2
C,F,--21677311(+) ATTCAA/GCCAAC 1 -- us2k14Minor allele frequency- G:0.04NA 126
rs1421865951,2
--21677347(+) CCATCA/GTATTC 1 -- us2k10--------
rs108418411,2
C,F,A,H,--21677454(+) TTCTCC/TTTTCT 1 -- us2k1 trp320Minor allele frequency- T:0.32NS EA NA WA 2348
rs1924288161,2
--21677500(+) CCTCTG/TCTCAT 1 -- us2k10--------
rs1444775501,2
--21677541(+) CCTGCA/CACTCT 1 -- us2k10--------
rs1456299181,2
--21677771(+) ATTTTA/GATATG 1 -- us2k10--------
rs730813071,2
C,--21677865(+) CCCACA/CGNNNN 1 -- us2k13Minor allele frequency- C:0.14CSA WA NA 240
rs123027871,2
H--21677885(+) cctaaG/Aaatca 1 -- us2k14Minor allele frequency- A:0.00NS EA 414
rs768186171,2
F,--21677974(+) CCAAAT/GTCATT 1 -- us2k11Minor allele frequency- G:0.04NA 120
rs571150571,2
--21677996(+) TTTCCC/TTGTGT 1 -- us2k11Minor allele frequency- T:0.01EA 120

HapMap Linkage Disequilibrium report for C12orf39 (21679241 - 21690311 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for C12orf39: --

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Disorders / Diseases
for C12orf39 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
C12orf39 for disorders           About GeneDecksing

4 diseases for C12orf39:    About MalaCards
discitis    locked-in syndrome    agoraphobia    radiculopathy

3 diseases from the University of Copenhagen DISEASES database for C12orf39:
locked-in syndrome     Agoraphobia     Spondylosis

Export disorders for C12orf39 gene to outside databases

Publications
for C12orf39 gene

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for C12orf39 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C12orf39)		    Utopia: connect your pdf to the dynamic
world of online information

  1. Evolutionary sequence modeling for discovery of peptide hormones. (PubMed id 19132080)1, 2 Sonmez K.... Toll L. (2009)
  2. Identification of novel peptide hormones in the human proteome by hidden Markov model screening. (PubMed id 17284679)1, 2 Mirabeau O.... Gross C. (2007)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
  6. Peptides derived from the prohormone proNPQ/spexin are potent central modulators of cardiovascular and renal function and nociception. (PubMed id 22038051)1 Toll L....Kapusta D.R. (2012)
  7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
  8. C12ORF39, a novel secreted protein with a typical amidation processing signal. (PubMed id 19193193)1 Wan B....Han Z.G. (2009)
  9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
  10. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1 Otsuki T....Isogai T. (2005)

External Searches for C12orf39 gene

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing C12orf39 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 80763 HGNC: 28139 AceView: MGC10946 Ensembl:ENSG00000134548 euGenes: HUgn80763
ECgene: C12orf39 H-InvDB: C12orf39

Other Databases showing C12orf39 gene

(According to HUGE)
About This Section
   --

Specialized Databases showing C12orf39 gene

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for C12orf39 Pharmacogenomics, SNPs, Pathways

Intellectual Property
for C12orf39 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C12orf39 gene:
Search GeneIP for patents involving C12orf39

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



Products
for C12orf39 gene

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About This Section

 
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