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Aliases for C21orf2 Gene

Aliases for C21orf2 Gene

  • Chromosome 21 Open Reading Frame 2 2 3
  • Leucine Rich Repeat Containing 76 2 3
  • YF5/A2 3 4
  • Nuclear Encoded Mitochondrial Protein C21orf2 3
  • Nuclear Encoded Mitochondrial Protein 2
  • C21orf-HUMF09G8.5 4
  • LRRC76 3

External Ids for C21orf2 Gene

Previous GeneCards Identifiers for C21orf2 Gene

  • GC21M042258
  • GC21M042341
  • GC21M044605
  • GC21M044573
  • GC21M045749
  • GC21M031119

Summaries for C21orf2 Gene

Entrez Gene Summary for C21orf2 Gene

  • Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

GeneCards Summary for C21orf2 Gene

C21orf2 (Chromosome 21 Open Reading Frame 2) is a Protein Coding gene. Diseases associated with C21orf2 include down syndrome.

UniProtKB/Swiss-Prot for C21orf2 Gene

  • May play roles in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C21orf2 Gene

Genomics for C21orf2 Gene

Regulatory Elements for C21orf2 Gene

Genomic Location for C21orf2 Gene

44,328,944 bp from pter
44,339,402 bp from pter
10,459 bases
Minus strand

Genomic View for C21orf2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C21orf2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C21orf2 Gene

Proteins for C21orf2 Gene

  • Protein details for C21orf2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein C21orf2
    Protein Accession:
    Secondary Accessions:
    • A8MPS9
    • O14993
    • Q8N5X6
    • Q99837
    • Q99838

    Protein attributes for C21orf2 Gene

    256 amino acids
    Molecular mass:
    28340 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C21orf2 Gene


neXtProt entry for C21orf2 Gene

Proteomics data for C21orf2 Gene at MOPED

Post-translational modifications for C21orf2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C21orf2 Gene

No data available for DME Specific Peptides for C21orf2 Gene

Domains for C21orf2 Gene

Suggested Antigen Peptide Sequences for C21orf2 Gene

Graphical View of Domain Structure for InterPro Entry



  • O43822
  • Contains 1 LRRCT domain.
  • Contains 3 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with C21orf2: view

No data available for Gene Families for C21orf2 Gene

Function for C21orf2 Gene

Molecular function for C21orf2 Gene

GENATLAS Biochemistry: chromosome 21 open reading frame 2,mitochondrial protein,25kDa,with two alternatively spliced transcripts,widely expressed,encoded by a nuclear gene in the DFNB8/DFNB10 region
UniProtKB/Swiss-Prot Function: May play roles in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization.

Gene Ontology (GO) - Molecular Function for C21orf2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with C21orf2: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for C21orf2 Gene

Localization for C21orf2 Gene

Subcellular locations from

Jensen Localization Image for C21orf2 Gene COMPARTMENTS Subcellular localization image for C21orf2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for C21orf2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 21834987
GO:0005886 plasma membrane IDA 21834987
genes like me logo Genes that share ontologies with C21orf2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C21orf2 Gene

Pathways for C21orf2 Gene

SuperPathways for C21orf2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C21orf2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP 21834987
GO:0007224 smoothened signaling pathway IEA --
GO:0008360 regulation of cell shape IMP 21834987
GO:0060271 cilium morphogenesis IEA --
genes like me logo Genes that share ontologies with C21orf2: view

No data available for Pathways by source for C21orf2 Gene

Transcripts for C21orf2 Gene

Unigene Clusters for C21orf2 Gene

Chromosome 21 open reading frame 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C21orf2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: -
SP6: -
SP7: - -

Relevant External Links for C21orf2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C21orf2 Gene

mRNA expression in normal human tissues for C21orf2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for C21orf2 Gene

SOURCE GeneReport for Unigene cluster for C21orf2 Gene Hs.517331

genes like me logo Genes that share expressions with C21orf2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C21orf2 Gene

Orthologs for C21orf2 Gene

This gene was present in the common ancestor of animals.

Orthologs for C21orf2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C21H21orf2 35
  • 99.35 (n)
  • 98.83 (a)
C21orf2 36
  • 98 (a)
(Bos Taurus)
Mammalia C1H21orf2 35
  • 80.39 (n)
  • 74.12 (a)
C1H21ORF2 36
  • 74 (a)
(Canis familiaris)
Mammalia C21orf2 36
  • 55 (a)
C31H21orf2 35
  • 82.87 (n)
  • 77.08 (a)
(Mus musculus)
Mammalia 1810043G02Rik 35
  • 79.38 (n)
  • 75.5 (a)
1810043G02Rik 16
1810043G02Rik 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia C21orf2 36
  • 65 (a)
(Rattus norvegicus)
Mammalia RGD1309594 35
  • 78.31 (n)
  • 74.3 (a)
(Gallus gallus)
Aves C9H21ORF2 35
  • 68.94 (n)
  • 63.86 (a)
C9H21ORF2 36
  • 61 (a)
(Anolis carolinensis)
Reptilia C21orf2 36
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf2 35
  • 54.65 (n)
  • 51.44 (a)
(Danio rerio)
Actinopterygii LOC100537391 35
  • 62.87 (n)
  • 56.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14995 36
  • 24 (a)
CG15208 36
  • 23 (a)
(Caenorhabditis elegans)
Secernentea F09G8.5 36
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9543 36
  • 31 (a)
Species with no ortholog for C21orf2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for C21orf2 Gene

Gene Tree for C21orf2 (if available)
Gene Tree for C21orf2 (if available)

Paralogs for C21orf2 Gene

No data available for Paralogs for C21orf2 Gene

Variants for C21orf2 Gene

Sequence variations from dbSNP and Humsavar for C21orf2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs11870 -- 44,339,162(-) ACCCG(A/G)GCCAA synonymous-codon, reference, upstream-variant-2KB, utr-variant-5-prime
rs14313 -- 44,336,132(-) GGGCC(A/G)CTCCC intron-variant
rs1056687 -- 44,329,962(+) GCCTA(A/G)AACCT utr-variant-3-prime
rs1056689 -- 44,329,978(+) CCACA(A/G)AAGGG utr-variant-3-prime
rs1056725 -- 44,329,017(+) AACTG(C/T)CCACC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C21orf2 Gene

Variant ID Type Subtype PubMed ID
esv33817 CNV Loss 17666407
nsv913898 CNV Loss 21882294
nsv913906 CNV Loss 21882294
esv2723638 CNV Deletion 23290073
dgv4769n71 CNV Loss 21882294
dgv4770n71 CNV Loss 21882294
nsv913912 CNV Loss 21882294
dgv4771n71 CNV Loss 21882294
dgv4772n71 CNV Loss 21882294
dgv4773n71 CNV Loss 21882294
nsv509800 CNV Insertion 20534489
nsv913943 CNV Loss 21882294
nsv828907 CNV Gain 20364138
nsv828909 CNV Gain 20364138
esv2723642 CNV Deletion 23290073
esv2723643 CNV Deletion 23290073
esv1005686 CNV Deletion 20482838
esv1476049 CNV Deletion 17803354

Relevant External Links for C21orf2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C21orf2 Gene

Disorders for C21orf2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for C21orf2 Gene including...

Search for C21orf2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for C21orf2 Gene

genes like me logo Genes that share disorders with C21orf2: view

No data available for UniProtKB/Swiss-Prot for C21orf2 Gene

Publications for C21orf2 Gene

  1. Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. (PMID: 9465297) Scott H.S. … Antonarakis S.E. (Genomics 1998) 2 3 4
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4
  3. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PMID: 21834987) Bai S.W. … Ridley A.J. (BMC Biol. 2011) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh J.H. … Kim N.S. (Mamm. Genome 2005) 3

Products for C21orf2 Gene

Sources for C21orf2 Gene

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