C12orf4 Gene
protein-coding GIFtS: 41
GCID: GC12M004596 (predicted)
|
|
chromosome 12 open reading frame 4
| |
Aliases
for C12orf4 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 41 2 | | Uncharacterized Protein C12orf42 |
Export aliases for C12orf4 gene to outside databasesPrevious GC identifers: GC12M004336 GC12M004489 GC12M004467 |
Summaries
for C12orf4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for C12orf4 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_009759.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C12orf4 gene promoter:
E2F-3a E2F-4 E2F-5 E2F-2 RORalpha2 AREB6 PPAR-gamma1 E2F-1 E2F PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for C12orf4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12p13.3 Ensembl cytogenetic band: 12p13.32 HGNC cytogenetic band: 12p13.3C12orf4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M004596: view genomic region
(about GC identifiers)
Start:
|
4,596,894 bp from pter |
End:
|
4,647,674 bp from pter |
Size:
|
50,781 bases |
Orientation:
|
minus strand |
|
Proteins
for C12orf4 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: CL004_HUMAN, Q9NQ89 (See
protein sequence)Recommended Name: Uncharacterized protein C12orf4 Size: 552 amino acids; 63801 Da
Secondary accessions: D3DUQ8 Q6MZH5Explore the universe of human proteins at neXtProt for C12orf4: NX_Q9NQ89
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NQ89
C12orf4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065107.1
ENSEMBL proteins: ENSP00000261250 ENSP00000439996 ENSP00000444594 ENSP00000440820 ENSP00000439471 ENSP00000442806
Human Recombinant Protein Products:
C12orf4 Antibody Products:
Assay Products for C12orf4: |
Protein
Domains /
Families
for C12orf4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
C12orf4 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NQ89ProtoNet protein and cluster: Q9NQ89 |
Function
for C12orf4 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
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf4 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf4 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for C12orf4 | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C12orf4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf4 |
|
Pathways & Interactions
for C12orf4 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 C12orf4
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
5/49 Interacting proteins for C12orf4 (Q9NQ893 ENSP000002612504) via UniProtKB, MINT, STRING, and/or I2D (see all 49)About this table
|
Drugs & Compounds
for C12orf4 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 Tocris compounds for C12orf4
Search CenterWatch for drugs/clinical trials and news about C12orf4 / CL004
|
Transcripts
for C12orf4 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,
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 C12orf4 gene: NM_020374.2 Unigene Cluster for C12orf4: Chromosome 12 open reading frame 4 Hs.302977 [show with all ESTs]Unigene Representative Sequence: NM_0203749 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000261250(uc001qms.3 uc001qmt.3) ENST00000545746 ENST00000544258
ENST00000509318 ENST00000541014 ENST00000544697 ENST00000535887 ENST00000542080
ENST00000535030
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf4 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf4 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for C12orf4 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C12orf4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf4 |
Additional cDNA sequence: AJ272205.1 AK024811.1 AK074479.1 AL834377.1 BC016908.1 BX641128.1 7 DOTS entries: DT.95372723 DT.100778034 DT.99929428 DT.100778035 DT.121120172 DT.92430059 DT.99995086 24/161 AceView cDNA sequences (see all 161): BQ962037 AA478975 AI016205 AL834377 BG675846 BM703876 AI247658 AJ272205 AK074479 AI459736 AI378162 AI127563 BE713037 AI436758 AA769859 AI753827 AI381987 BU607512 AA195524 BQ893768 AK024811 AA480024 BM715405 AA758219
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf4 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|
|
| SP1: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for C12orf4
|
Expression
for C12orf4 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
| C12orf4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATGATGTGA
About this image
See C12orf4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C12orf4
SOURCE GeneReport for Unigene cluster: Hs.302977
SABiosciences Custom PCR Arrays for C12orf4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C12orf4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C12orf4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C12orf4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C12orf4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf4 |
Orthologs
for C12orf4 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 animals.
Orthologs for C12orf4 gene from 7/22 species (see all 22) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
D6Wsu163e1 , 5 |
DNA segment, Chr 6, Wayne State University 163, expressed1, 5 |
86.23(n)1
94.2(a)1 |
|
6 (61.92 cM)5
280401 NM_138594.31 NP_613060.11
1269399665 |
chicken
(Gallus gallus) |
Aves |
C1H12orf41 |
chromosome 1 open reading frame, human C12orf4 |
79.58(n)
84.18(a) |
|
419041 XM_001231609.2 XP_001231610.1 |
lizard
(Anolis carolinensis) |
Reptilia |
C12orf46 |
-- |
82(a) |
1 ↔ 1 |
5(80962172-80986789) |
African clawed frog
(Xenopus laevis) |
Amphibia |
MGC533132 |
similar to chromosome 12 open reading frame 4 |
75.42(n) |
|
BC042292.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.190052 |
Transcribed sequence with moderate similarity to protein more |
75.53(n) |
|
BM026306.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG99861 , 3 |
CG99861 |
35(a)3
46.65(n)1
37.84(a)1 |
|
98D63
433861 NM_143366.21 NP_651623.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
C55A6.103
CELE_C55A6.101 |
Protein C55A6.101 |
26(a)3
43.97(n)1
30.49(a)1 |
|
V(11507958-11510667)3
1795811 NM_171543.41 NP_741631.21 |
ENSEMBL Gene Tree for C12orf4 (if available)
TreeFam Gene Tree for C12orf4 (if available) |
Paralogs
for C12orf4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C12orf4 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C12orf4 (4596894 - 4647674 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C12orf4: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C12orf4 |
|
Disorders
/ Diseases
for C12orf4 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
|
C12orf4 for disorders About GeneDecksing
1  disease for C12orf4: About MalaCardsrickets
1 disease from the University of Copenhagen DISEASES database for C12orf4:Distal arthrogryposis Export disorders for C12orf4 gene to outside databases
|
Publications
for C12orf4 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 C12orf4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C12orf4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. (PubMed id 11062477)1, 2 White K.E.... Strom T.M. (2000)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Common genetic variants associate with serum phosphor us concentration. (PubMed id 20558539)1 Kestenbaum B....Fox C.S. (2010)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for C12orf4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C12orf4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C12orf4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C12orf4 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
|
| Name | Description |
| PharmGKB entry for C12orf4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C12orf4 gene:
Search GeneIP for patents involving C12orf4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C12orf4 gene(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
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for C12orf4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C12orf4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C12orf4 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for C12orf4 | | OriGene 3'-UTR Clone for C12orf4 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C12orf4 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for C12orf4 | | OriGene Custom Protein Services for C12orf4 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C12orf4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C12orf4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C12orf4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C12orf4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C12orf4 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for C12orf4 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | C12orf4 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf4 |
|  |  |  | | | | Search ThermoFisher Antibodies for C12orf4 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf4 |
|
|
|
|
