Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol C21orf2 contributors: - updated : 06-10-2006
HGNC name chromosome 21 open reading frame 2
HGNC id 1260
Location 21q22.3      Physical location : 45.748.826 - 45.759.285
Synonym name nuclear encoded mitochondrial protein, cDNA A2-YF5
Synonym symbol(s) A2, YF5
DNA
TYPE functioning gene
STRUCTURE 10.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D21S2040 - D21S1259 - TMEM1 - D21S1460 - PWP2H ,EHOC5 - D21S25 - PFKL PFKL - C21orf2 - D21S154 - D21S400 - D21S170 - D21S171 - D21S1903 - SUMO3 - ITGB2 - D21S1897 - D21S1575 - qter
Authors Scott (98),Lapenta (98)
Physical map
C21orf124 21q22.3 chromosome 21 open reading frame 124 C21orf97 21q22.3 chromosome 21 open reading frame 97 CSTB 21q22.3 cystatin B (stefin B) D21S2056E 21q22.3 DNA segment on chromosome 21 (unique) 2056 expressed sequence LOC284837 21q22.3 hypothetical protein LOC284837 MYL6P 21q22.3 myosin, light polypeptide 6, pseudogene AGPAT3 21q22.3 1-acylglycerol-3-phosphate O-acyltransferase 3 TMEM1 21q22.3 transmembrane protein 1 H2AFZP 21q22.3 H2A histone family, member Z, pseudogene PWP2H 21q22.3 PWP2 periodic tryptophan protein homolog (yeast) C21orf33 21q22.3 chromosome 21 open reading frame 33 C21orf32 21q22.3 chromosome 21 open reading frame 32 ICOSL 21q22.3 inducible T-cell co-stimulator ligand DNMT3L 21q22.3 DNA (cytosine-5-)-methyltransferase 3-like AIRE 21q22.3 autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) PFKL 21q22.3 phosphofructokinase, liver C21orf2 21q22.3 chromosome 21 open reading frame 2 TRPM2 21q22.3 transient receptor potential cation channel, subfamily M, member 2 LRRC3 21q22.3 leucine-rich repeat-containing 3 C21orf29 21q22.3 chromosome 21 open reading frame 29 C21orf90 21q22.1 chromosome 21 open reading frame 90 KRTAP10-10 21q22.3 keratin associated protein 10-10 KRTAP12-2 21q22.3 keratin associated protein 12-2 IMMTP 21q22.3 inner membrane protein, mitochondrial (mitofilin) pseudogene KRTAP12-1 21q22.3 keratin associated protein 12-1 UBE2G2 21q22.3 ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) SMT3H1 21q22.3 SMT3 suppressor of mif two 3 homolog 1 (yeast) PTTG1IP 21q22.3 pituitary tumor-transforming 1 interacting protein ITGB2 21q22.3 integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)
regionally located the DFNB8/DFNB10 region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - - 2116 25 256 - Scott
- splicing 2116 25 252 - Scott
lacking 3aa in exon 4 and 1, exon 7
- splicing - - 255 - Scott
lacking 1aa in exon 7
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousnervecranial nerve  highly
Reproductivefemale systemovary  highly
 female systembreastmammary gland highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY unknown/unspecified
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
basic FUNCTION unknown
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism
signaling
a component
INTERACTION
DNA
RNA
small molecule
protein
cell & other
REGULATION
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in Down syndrome
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS