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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C21orf62 Gene

protein-coding GIFtS: 38
GCID: GC21M034163

chromosome 21 open reading frame 62

(Previous name: chromosome 21 open reading frame 120 )
(Previous symbol: C21orf120)

Explore 1 disease affiliated with
C21orf62 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Chromosome 21 Open Reading Frame 62¹ ²
B37¹ ² ³
C21orf120¹ ² ³
PRED81¹ ²
Chromosome 21 Open Reading Frame 120¹
Uncharacterized Protein C21orf62²

External Ids:	HGNC: 1305¹	Entrez Gene: 56245²	Ensembl: ENSG00000205929⁷	UniProtKB: Q9NYP8³

Export aliases for C21orf62 gene to outside databases

Previous GC identifers: GC21M030743 GC21M033086 GC21M033087 GC21M019572

(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_000021.8 NC_018932.1 NT_011512.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C21orf62 gene promoter:
FOXI1 HFH-3 HOXA3 FOXJ2 (long isoform) MyoD Hand1 FOXJ2 TGIF FOXL1 E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C21orf62 promoter sequence

Search SABiosciences Chromatin IP Primers for C21orf62

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C21orf62

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

Entrez Gene cytogenetic band: 21q22.11 Ensembl cytogenetic band: 21q22.11 HGNC cytogenetic band: 21q22.1

C21orf62 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C21orf62 gene location

GeneLoc information about chromosome 21 GeneLoc Exon Structure

GeneLoc location for GC21M034163: view genomic region (about GC identifiers)

Start:	34,162,984 bp from pter	End:	34,186,053 bp from pter
Size:	23,070 bases	Orientation:	minus strand

1 alternative location:

Chr21-,PATCHES 34,160,087-34,183,141

(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,
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About This Section

UniProtKB/Swiss-Prot: CU062_HUMAN, Q9NYP8 (See protein sequence)

Recommended Name: Uncharacterized protein C21orf62

Size: 219 amino acids; 24886 Da

Sequence caution: Sequence=AAF72946.1; Type=Frameshift; Positions=181;

Secondary accessions: A8K4L8

Explore the universe of human proteins at neXtProt for C21orf62: NX_Q9NYP8

C21orf62 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001155967.2 NP_001155968.2 NP_062542.5

ENSEMBL proteins:

ENSP00000418830 ENSP00000418511 ENSP00000371810 ENSP00000418653 ENSP00000444950

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--

C21orf62 for ontologies About GeneDecksing

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

ProtoNet protein and cluster: Q9NYP8

(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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

C21orf62 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for C21orf62:

Decreased viability with pacli

Increased gamma-H2AX phosphory

Animal Models:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for 4932438H23Rik):

skeleton

C21orf62 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 Central^TM Interacting Genes and Proteins Networks for C21orf62

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--

C21orf62 for ontologies About GeneDecksing

(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

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Browse Tocris compounds for C21orf62
Search CenterWatch for drugs/clinical trials and news about C21orf62 / CU062

(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,
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About This Section

REFSEQ mRNAs for C21orf62 gene (3 alternative transcripts):

NM_001162495.2 NM_001162496.2 NM_019596.5

Unigene Cluster for C21orf62:

Chromosome 21 open reading frame 62

Hs.517235 [show with all ESTs]

Unigene Representative Sequence: NM_001162495

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000490358 ENST00000487113 ENST00000382373 ENST00000479548 ENST00000536776(uc010glz.3 uc011adt.2 uc011adu.2)

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Additional cDNA sequence:

AF231922.1 AK290983.1 BC069689.1 BC069709.1 BC069766.1 BC069779.1 DQ656042.2 EF212282.1

2 DOTS entries:

DT.40252437 DT.97822097

19 AceView cDNA sequences:

BU789645 NM_019596 BC069689 AF231922 BU789798 BU789528 AW235949 BG400537

BC069766 BM564997 AI888342 BX419841 BC069779 BX431204 BM512397 BC069709

BU789917 H11666 H11586

GeneLoc Exon Structure

(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

C21orf62 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTTTATTCC

About this image

C21orf62 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Heart

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C21orf62 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C21orf62

SOURCE GeneReport for Unigene cluster: Hs.517235

SABiosciences Custom PCR Arrays for C21orf62

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In Situ
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(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 C21orf62 gene from 3/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	4932438H23Rik^{1 , 5}	RIKEN cDNA 4932438H23 gene^{1, 5}	79.4(n)¹ 70.28(a)¹		16 (52.35 cM)⁵ 74387¹ NM_028905.3¹ NP_083181.1¹ 91053935⁵
chicken (Gallus gallus)	Aves	C1H21orf62¹	chromosome 1 open reading frame, human C21orf62	63.51(n) 57.82(a)		418501 XM_416709.1 XP_416709.1
lizard (Anolis carolinensis)	Reptilia	C21orf62⁶	--	41(a)	1 ↔ 1	3(145082447-145083793)

ENSEMBL Gene Tree for C21orf62 (if available)
TreeFam Gene Tree for C21orf62 (if available)

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

(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

SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs13050778^1,2	C,F,	--	34170535(+)	`CTACTT/CGGGAG`	3	--	int¹		7		NA WA CSA	14
rs142312767^1,2		--	34170570(+)	`TCTGAG/TAATTC`	3	--	int¹		0	--	--	--	--
rs190598950^1,2		--	34170630(+)	`AGAAAC/TAGGGA`	3	--	int¹		0	--	--	--	--
rs117649465^1,2		--	34170852(+)	`TTTCTC/TTCAAG`	3	--	int¹		1		EA	120
rs183037237^1,2		--	34171026(+)	`TCCCAC/GCATTT`	3	--	int¹		0	--	--	--	--
rs150828259^1,2		--	34171293(+)	`TAATAA/CTAATG`	3	--	int¹		0	--	--	--	--
rs139231327^1,2		--	34171391(+)	`ATGAAA/TGGGAT`	3	--	int¹		0	--	--	--	--
rs115325757^1,2	C,	--	34171481(+)	`GGCCAA/GGTAGG`	3	--	int¹		0	--	--	--	--
rs111637106^1,2	F,	--	34171673(+)	`AGGGCC/TCCTCG`	3	--	int¹		2		CSA	4
rs184257299^1,2		--	34171897(+)	`TGACTA/CTTGAG`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C21orf62 (34162984 - 34186053 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C21orf62: --

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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

C21orf62 for disorders About GeneDecksing

1 disease for C21orf62: About MalaCards

down syndrome

Export disorders for C21orf62 gene to outside databases

(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 C21orf62 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C21orf62)

Utopia: connect your pdf to the dynamic
world of online information

Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. (PubMed id 10773462)^{1, 2} Slavov D.... Gardiner K. (2000)
Functional analysis and identification of cis-regulat ory elements of human chromosome 21 gene promoters. (PubMed id 20494980)¹ Warnatz H.J....Yaspo M.L. (2010)
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. (PubMed id 17567994)¹ Denoeud F....Reymond A. (2007)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)¹ Suzuki Y.... Sugano S. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)¹ Brandenberger R.... Stanton L.W. (2004)
Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PubMed id 12036298)¹ Gardiner K....Davisson M. (2002)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 56245	HGNC: 1305	AceView: C21orf62	Ensembl:ENSG00000205929	euGenes: HUgn56245
ECgene: C21orf62	H-InvDB: C21orf62

(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

Name	Description
PharmGKB entry for C21orf62	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C21orf62 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C21orf62 gene:
Search GeneIP for patents involving C21orf62

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),
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About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C21orf62 gene at Home site.

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C21orf62 Gene

chromosome 21 open reading frame 62

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C21orf62 Gene

chromosome 21 open reading frame 62

Aliasesfor C21orf62 gene

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Genomic Viewsfor C21orf62 gene

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for C21orf62 gene

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