C21orf67 Gene
protein-coding GIFtS: 36
GCID: GC21M046352
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chromosome 21 open reading frame 67(Previous name: chromosome 21 open reading frame 69 )
(Previous symbol: C21orf69)
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Aliases
for C21orf67 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
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| Chromosome 21 Open Reading Frame 671 2 | | C21orf691 2 3 | | Chromosome 21 Open Reading Frame 691 | | PRED542 |
| External Ids: | HGNC: 157071 | Entrez Gene: 845362 | Ensembl: ENSG000001832507 | UniProtKB: P585123 | | ORGUL members: | |
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| NONCODE:n407659 n407660 n346466 | |
Export aliases for C21orf67 gene to outside databasesPrevious GC identifers: GC21M042747 GC21M042946 GC21M045209 GC21M045178 GC21M045181 GC21M031725
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Summaries
for C21orf67 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 C21orf67 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_000021.8 NC_018932.1 NT_011515.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C21orf67 gene promoter:
STAT1 Pax-2b Pax-2 STAT1beta Pax-2a STAT1alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for C21orf67
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C21orf67 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 21q22.3 Ensembl cytogenetic band: 21q22.3 HGNC cytogenetic band: 21q22.3C21orf67 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 21 GeneLoc Exon Structure GeneLoc location for GC21M046352: view genomic region
(about GC identifiers)
Start:
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46,352,729 bp from pter |
End:
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46,359,828 bp from pter |
Size:
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7,100 bases |
Orientation:
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minus strand |
ORGUL member locations:
Legend (see complete legend)
46354609 46357219 46359828 chr21
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Proteins
for C21orf67 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: CU067_HUMAN, P58512 (See
protein sequence)Recommended Name: Uncharacterized protein C21orf67 Size: 204 amino acids; 21308 Da
Sequence caution: Sequence=AAK60445.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: P58556 Q495D3 Q495D5Alternative splicing: 3 isoforms: P58512-1 P58512-2 P58512-3 (No experimental confirmation available. Gene prediction based on EST data)Explore the universe of human proteins at neXtProt for C21orf67: NX_P58512
C21orf67 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000380941 ENSP00000331610 ENSP00000369410
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
C21orf67 for ontologies About GeneDecksing
C21orf67 Antibody Products:
Assay Products for C21orf67: |
Protein
Domains /
Families
for C21orf67 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: P58512 |
Function
for C21orf67 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
|
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C21orf67 |
3 GenomeRNAi human phenotypes for C21orf67:
|
Pathways & Interactions
for C21orf67 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 C21orf67
|
Drugs & Compounds
for C21orf67 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 C21orf67
Search CenterWatch for drugs/clinical trials and news about C21orf67 / CU067 
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Transcripts
for C21orf67 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 C21orf67 gene (3 alternative transcripts): NM_058188.1 NM_058189.1 NM_182900.1 Unigene Cluster for C21orf67: Chromosome 21 open reading frame 67 Hs.534504 [show with all ESTs]Unigene Representative Sequence: NR_0271283 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000397841(uc011afm.2) ENST00000330551(uc002zgj.4 uc002zgk.4)
ENST00000380070
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C21orf67
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C21orf67 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C21orf67 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C21orf67 |
Additional cDNA sequence: AF380178.1 AY035381.1 AY040088.1 BC101235.2 BC101236.2 BC101237.1 BC101238.2 BC128244.1 BC128245.1 NR_027128.1 NR_027129.1 5 DOTS entries: DT.75191252 DT.121140367 DT.121140321 DT.91677231 DT.100669907 23 AceView cDNA sequences: BM674075 AI640847 BI907880 BI829356 NM_058188 BC044943 AF380178 BU683846 AY040088 AK127059 BM715634 AY035381 NM_058189 CA430431 BF115109 AJ003379 AI143334 BE536972 AJ003375 AJ003257 AW291226 H44322 AA521500
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for C21orf67 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
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| SP1: | | | | | - | | | | | | | | | | | | | | | | |
| SP2: | | | | | - | | - | | - | | | | | | | | - | | | | |
| SP3: | | | | | - | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for C21orf67
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Expression
for C21orf67 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
| C21orf67 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See C21orf67 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C21orf67
SOURCE GeneReport for Unigene cluster: Hs.534504
UniProtKB/Swiss-Prot: CU067_HUMAN, P58512Tissue specificity: Not detected in any tissue tested
SABiosciences Custom PCR Arrays for C21orf67
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C21orf67
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C21orf67 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C21orf67 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C21orf67 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C21orf67 |
Orthologs
for C21orf67 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
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ENSEMBL Gene Tree for C21orf67 (if available)
TreeFam Gene Tree for C21orf67 (if available) |
Paralogs
for C21orf67 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C21orf67 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 21 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for C21orf67 (46352729 - 46359828 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C21orf67: -- | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for C21orf67 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
|
C21orf67 for disorders About GeneDecksing
1  disease for C21orf67: About MalaCardsdown syndrome
Export disorders for C21orf67 gene to outside databases
|
Publications
for C21orf67 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 C21orf67 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C21orf67) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (PubMed id 11707072)1, 2, 3, 9 Reymond A....Antonarakis S.E. (2001)
- Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. (PubMed id 16780588)1 Hu Y.H....Janitz M. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S....Malek J. (2004)
- 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)
- The DNA sequence of human chromosome 21. (PubMed id 10830953)2 Hattori M....Yaspo M.L. (2000)
- Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
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External Searches for C21orf67 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing C21orf67 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C21orf67 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C21orf67 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 C21orf67 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for C21orf67 gene:
Search GeneIP for patents involving C21orf67
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C21orf67 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
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C21orf67 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C21orf67 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C21orf67 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C21orf67 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C21orf67 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C21orf67 |
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 | | | C21orf67 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C21orf67 |
|  |  |  | | | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C21orf67 |
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Last full update: 19 Mar 2013 -
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