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

C12orf49 Gene

protein-coding   GIFtS: 41
GCID: GC12M117153          (predicted)

chromosome 12 open reading frame 49

  Search for C12orf49
in our new
 Human Malady Compendium 
Biological research products
for C12orf49
    

(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 491 2
FLJ214151
UPF0454 Protein C12orf492

External Ids:    HGNC: 261281   Entrez Gene: 797942   Ensembl: ENSG000001114127   UniProtKB: Q9H7413   

Export aliases for C12orf49 gene to outside databases

Previous GC identifers: GC12M115617 GC12M114163


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C12orf49 gene promoter:
         p53   SREBP-1c   CBF-C   SREBP-1b   Egr-4   CBF-B   SREBP-1a   CBF-A   SEF-1 (1)   Msx-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C12orf49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf49


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

Entrez Gene cytogenetic band: 12q24.22   Ensembl cytogenetic band:  12q24.22   HGNC cytogenetic band: 12q24.22

C12orf49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf49 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M117153:  view genomic region     (about GC identifiers)

Start:
117,153,593 bp from pter      End:
117,175,875 bp from pter
Size:
22,283 bases      Orientation:
minus strand

(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: CL049_HUMAN, Q9H741 (See protein sequence)
Recommended Name: UPF0454 protein C12orf49 precursor  
Size: 205 amino acids; 23594 Da
Subcellular location: Secreted (Potential)
Secondary accessions: Q53GE8

Explore the universe of human proteins at neXtProt for C12orf49: NX_Q9H741

C12orf49 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_079014.1  
ENSEMBL proteins: 
 ENSP00000261318   ENSP00000446478   ENSP00000449151   ENSP00000447722   ENSP00000442947  

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Uscn Proteins for C12orf49

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--


C12orf49 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for C12orf49


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

C12orf49 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR019352 UPF0454

Graphical View of Domain Structure for InterPro Entry Q9H741

ProtoNet protein and cluster: Q9H741

UniProtKB/Swiss-Prot: CL049_HUMAN, Q9H741
Similarity: Belongs to the UPF0454 family


(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

miRNA
Products:
    
miRTarBase miRNAs that target C12orf49:
hsa-mir-1 (MIRT003849)

OriGene 3'-UTR Clone: C12orf49
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SwitchGear 3'UTR luciferase reporter plasmidC12orf49 3' UTR sequence
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf49

1 GenomeRNAi human phenotype for C12orf49:
 Decreased melanin production 

Animal Models:
     1 MGI phenotypic allele for 2410131K14Rik (no phenotypes)

C12orf49 for phenotypes           About GeneDecksing


(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 C12orf49

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for C12orf49 (ENSP000002613184) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
TP53ENSP000002693054STRING: ENSP00000269305
ELAVL1ENSP000003852694STRING: ENSP00000385269
About this table

(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 C12orf49
Search CenterWatch for drugs/clinical trials and news about C12orf49 / CL049 

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 C12orf49 gene: 
NM_024738.1  

Unigene Cluster for C12orf49:

Chromosome 12 open reading frame 49
Hs.592011  [show with all ESTs]
Unigene Representative Sequence: AK025068
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000261318(uc001tvz.1 uc009zwm.1) ENST00000547630 ENST00000548356
ENST00000547606 ENST00000536380

miRNA
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hsa-miR-502-5p hsa-miR-130a* hsa-miR-4272 hsa-miR-323b-3p hsa-miR-23c hsa-miR-450b-3p hsa-miR-23b hsa-miR-3126-3p
SwitchGear 3'UTR luciferase reporter plasmidC12orf49 3' UTR sequence
Inhib. RNA
Products:
     
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Clone
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Primer
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C12orf49
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C12orf49

Additional cDNA sequence: 

AK025068.1 AK222983.1 AK298857.1 AK309652.1 BC019843.1 

6 DOTS entries:

DT.209967  DT.100767181  DT.102823524  DT.95260076  DT.100695386  DT.100767178 

24/164 AceView cDNA sequences (see all 164):

AI356201 AI492878 BX389599 AI189976 AA514750 AA514509 BM981179 BQ009949 
BF434458 CA394526 AA360709 AW183346 AA026236 BF590567 BQ437586 AA908183 
AI016678 AA329614 AI018506 AI254333 CR625981 BX104590 BE763891 CD558287 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf49    About this scheme

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1:                                                            
SP2:                    -     -                                 
SP3:                          -     -                           


ECgene alternative splicing isoforms for C12orf49

(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

C12orf49 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCCTGCCCT

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

About this image
See C12orf49 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C12orf49

SOURCE GeneReport for Unigene cluster: Hs.592011
    SABiosciences Custom PCR Arrays for C12orf49
Primer
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C12orf49
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf49

(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 eukaryotes.

Orthologs for C12orf49 gene from 8/23 species (see all 23)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 2410131K14Rik1 , 5 RIKEN cDNA 2410131K14 gene1, 5 85.53(n)1
92.68(a)1
  5 (58.32 cM)5
767921  NM_001081236.11  NP_001074705.11 
 1182452275 
chicken
(Gallus gallus)
Aves C15H12orf491 chromosome 15 open reading frame, human C12orf49 80.88(n)
84.31(a)
  417026  NM_001007841.1  NP_001007842.1 
lizard
(Anolis carolinensis)
Reptilia C12orf496
--
74(a)
1 ↔ 1
LGb(2290688-2295074)
African clawed frog
(Xenopus laevis)
Amphibia Xl.46702 Xenopus laevis transcribed sequences 73.29(n)    AW643959.1 
zebrafish
(Danio rerio)
Actinopterygii Dr.152412 Transcribed sequence with moderate similarity to protein more 78.35(n)    BQ074323.1 
fruit fly
(Drosophila melanogaster)
Insecta CG156431 CG15643 56.16(n)
46.74(a)
  32489  NM_176736.1  NP_788909.1 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G593906
uncharacterized protein
17(a)
1 ↔ 1
3(21946118-21948372)
rice
(Oryza sativa)
Liliopsida --
expressed protein
19(a)
1 ↔ 1
11(9173414-9178805)


ENSEMBL Gene Tree for C12orf49 (if available)
TreeFam Gene Tree for C12orf49 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for C12orf49 gene

C12orf49 for paralogs           About GeneDecksing


5 Pseudogenes.org Pseudogenes for C12orf49
PGOHUM00000238756 PGOHUM00000259015 PGOHUM00000249521 PGOHUM00000260539 PGOHUM00000242010


(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

10/430 NCBI SNPs in C12orf49 are shown (see all 430    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1857106151,2
--117153097(+) CAAGGC/TGTATC 1 -- int10--------
rs3394601,2
C,F,O,A,H,--117153263(+) AGCCCA/GGCTTC 1 -- int133Minor allele frequency- T:0.01EA NA NS WA CSA 3057
rs47674401,2
C,F,A,H,--117153385(+) CACCTA/GATTTG 1 -- int130Minor allele frequency- G:0.31EA NA NS WA CSA 2927
rs1889093101,2
--117153410(+) CTCGCC/TCCTCT 1 -- int10--------
rs1132139111,2
--117153449(+) CTCTCT/AGGGGA 1 -- int11Minor allele frequency- A:0.50CSA 2
rs339616431,2
F--117153492(+) GAGACAG/-GGGGA 1 -- int15Minor allele frequency- -:0.22EU EA NA MN 430
rs1442893191,2
C,--117153492(+) GAGAC-/AGGGGGA 1 -- int10--------
rs1452652021,2
--117153561(+) TCAGCA/GGGGAC 1 -- int10--------
rs1862754621,2
--117153689(+) GCGCTC/GTTCAA 1 -- ut310--------
rs1915690701,2
--117153905(+) AATCCA/GGCACA 1 -- ut310--------

HapMap Linkage Disequilibrium report for C12orf49 (117153593 - 117175875 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C12orf49
     1 CNV: 4788

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(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
  --

(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 C12orf49 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C12orf49)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

(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)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 79794 HGNC: 26128 AceView: FLJ21415 Ensembl:ENSG00000111412 euGenes: HUgn79794
ECgene: C12orf49 H-InvDB: C12orf49

(According to HUGE)
About This Section
  --

(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 C12orf49 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C12orf49 gene:
Search GeneIP for patents involving C12orf49

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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VWF
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von Willebrand factor
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