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Aliases for C21orf2 Gene

Aliases for C21orf2 Gene

  • Chromosome 21 Open Reading Frame 2 2 3 5
  • Leucine Rich Repeat Containing 76 2 3
  • YF5/A2 3 4
  • 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 st. louis encephalitis.

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

Promoters for C21orf2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C21orf2 on UCSC Golden Path with GeneCards custom track

Genomic Location for C21orf2 Gene

Chromosome:
21
Start:
44,328,944 bp from pter
End:
44,339,402 bp from pter
Size:
10,459 bases
Orientation:
Minus strand

Genomic View for C21orf2 Gene

Genes around C21orf2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C21orf2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    O43822-CU002_HUMAN
    Recommended name:
    Protein C21orf2
    Protein Accession:
    O43822
    Secondary Accessions:
    • A8MPS9
    • O14993
    • Q8N5X6
    • Q99837
    • Q99838

    Protein attributes for C21orf2 Gene

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

    Alternative splice isoforms for C21orf2 Gene

    UniProtKB/Swiss-Prot:

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

Antibody Products

No data available for DME Specific Peptides for C21orf2 Gene

Domains & Families for C21orf2 Gene

Suggested Antigen Peptide Sequences for C21orf2 Gene

Graphical View of Domain Structure for InterPro Entry

O43822

UniProtKB/Swiss-Prot:

CU002_HUMAN :
  • Contains 1 LRRCT domain.
  • Contains 3 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRCT domain.
Similarity:
  • 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 --
genes like me logo Genes that share ontologies with C21orf2: view
genes like me logo Genes that share phenotypes with C21orf2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C21orf2 Gene

Localization for C21orf2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C21orf2 Gene COMPARTMENTS Subcellular localization image for C21orf2 gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 3
mitochondrion 3
cytoskeleton 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for C21orf2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 9325172
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 & Interactions 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:0007224 smoothened signaling pathway IEA --
GO:0060271 cilium morphogenesis IEA --
genes like me logo Genes that share ontologies with C21orf2: view

No data available for Pathways by source and SIGNOR curated interactions for C21orf2 Gene

Drugs & Compounds for C21orf2 Gene

No Compound Related Data Available

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: - -
SP8:
SP9:

Relevant External Links for C21orf2 Gene

GeneLoc Exon Structure for
C21orf2
ECgene alternative splicing isoforms for
C21orf2

Expression for C21orf2 Gene

mRNA expression in normal human tissues for C21orf2 Gene

Protein differential expression in normal tissues from HIPED for C21orf2 Gene

This gene is overexpressed in Testis (17.3), Adrenal (17.1), Heart (12.5), and Pancreas (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with C21orf2: view

Protein tissue co-expression partners for C21orf2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
cow
(Bos Taurus)
Mammalia C1H21orf2 35
  • 80.39 (n)
  • 74.12 (a)
C1H21ORF2 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C31H21orf2 35
  • 82.87 (n)
  • 77.08 (a)
C21orf2 36
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1810043G02Rik 35
  • 79.38 (n)
  • 75.5 (a)
1810043G02Rik 16
1810043G02Rik 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C21H21orf2 35
  • 99.35 (n)
  • 98.83 (a)
C21orf2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1309594 35
  • 78.31 (n)
  • 74.3 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia C21orf2 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves C9H21ORF2 35
  • 68.94 (n)
  • 63.86 (a)
C9H21ORF2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C21orf2 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf2 35
  • 54.65 (n)
  • 51.44 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100537391 35
  • 62.87 (n)
  • 56.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14995 36
  • 24 (a)
OneToMany
CG15208 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F09G8.5 36
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9543 36
  • 31 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C21orf2 (if available)
TreeFam:
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
rs2277809 - 44,331,939(+) GGCCT(A/G)TGCCC nc-transcript-variant, reference, missense
rs9306099 - 44,331,931(+) GCCGC(C/T)GTGGC nc-transcript-variant, reference, missense
rs11870 -- 44,339,162(-) ACCCG(A/G)GCCAA nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs14313 -- 44,336,132(-) GGGCC(A/G)CTCCC intron-variant
rs15145 -- 44,328,951(-) TTGTT(C/G)GAATG nc-transcript-variant, 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

Variation tolerance for C21orf2 Gene

Residual Variation Intolerance Score: 95.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C21orf2 Gene

HapMap Linkage Disequilibrium report
C21orf2
Human Gene Mutation Database (HGMD)
C21orf2

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

Disorders for C21orf2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C21orf2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
st. louis encephalitis
  • neuroinvasive st. louis encephalitis virus infection
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C21orf2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C21orf2
genes like me logo Genes that share disorders with C21orf2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair. (PMID: 26290490) Fang X. … Zhang P. (Acta Biochim. Biophys. Sin. (Shanghai) 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. 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

Products for C21orf2 Gene

Sources for C21orf2 Gene

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