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C21orf2 chromosome 21 open reading frame 2 [ Homo sapiens (human) ]

Gene ID: 755, updated on 20-Feb-2017
Official Symbol
C21orf2provided by HGNC
Official Full Name
chromosome 21 open reading frame 2provided by HGNC
Primary source
HGNC:HGNC:1260
See related
Ensembl:ENSG00000160226 MIM:603191; Vega:OTTHUMG00000086909
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LRRC76; YF5/A2
Summary
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]
Orthologs
Location:
21q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 21 NC_000021.9 (44328944..44339417, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45748827..45759285, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene autoimmune regulator Neighboring gene phosphofructokinase, liver type Neighboring gene transient receptor potential cation channel subfamily M member 2 Neighboring gene TRPM2 antisense RNA Neighboring gene LRRC3 antisense RNA 1 (head to head)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • AP001062.8

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor connecting cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
protein C21orf2; nuclear encoded mitochondrial protein C21orf2
Names
C21orf-HUMF09G8.5
leucine rich repeat containing 76
leucine-rich repeat-containing protein 76

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032952.1 RefSeqGene

    Range
    5001..15459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271440.1NP_001258369.1  nuclear encoded mitochondrial protein C21orf2 isoform 2

    See identical proteins and their annotated locations for NP_001258369.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2, also known as YF5) lacks an internal aa, compared to isoform 1.
    Source sequence(s)
    BM761336, U84569, Y11392
    Consensus CDS
    CCDS59445.1
    UniProtKB/Swiss-Prot
    O43822
    Related
    ENSP00000317302, OTTHUMP00000109511, ENST00000325223, OTTHUMT00000195798
    Conserved Domains (4) summary
    smart00446
    Location:104122
    LRRcap; occurring C-terminal to leucine-rich repeats
    sd00035
    Location:4263
    LRR_NTF; leucine-rich repeat [structural motif]
    pfam12799
    Location:4080
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:1974
    LRR_8; Leucine rich repeat
  2. NM_001271441.1NP_001258370.1  nuclear encoded mitochondrial protein C21orf2 isoform 3

    See identical proteins and their annotated locations for NP_001258370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (3) has an additional segment in the C-terminal region, compared to isoform 1.
    Source sequence(s)
    BC031300, BM761336, Y11392
    Consensus CDS
    CCDS59444.1
    UniProtKB/Swiss-Prot
    O43822
    Related
    ENSP00000381047, OTTHUMP00000109513, ENST00000397956, OTTHUMT00000195800
    Conserved Domains (4) summary
    smart00446
    Location:104122
    LRRcap; occurring C-terminal to leucine-rich repeats
    sd00035
    Location:4263
    LRR_NTF; leucine-rich repeat [structural motif]
    pfam12799
    Location:4080
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:1974
    LRR_8; Leucine rich repeat
  3. NM_001271442.1NP_001258371.1  protein C21orf2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate 5' exon and an additional exon in the 5' region, which cause translation initiation at a downstream AUG, compared to variant 1. The resulting isoform (4, also known as A2) is shorter and lacks a mitochondrial targeting peptide, compared to isoform 1.
    Source sequence(s)
    AP001062, BC031300, U84570, Y11392
    UniProtKB/Swiss-Prot
    O43822
    Conserved Domains (3) summary
    smart00446
    Location:6381
    LRRcap; occurring C-terminal to leucine-rich repeats
    sd00035
    Location:2346
    LRR_NTF; leucine-rich repeat [structural motif]
    pfam12799
    Location:239
    LRR_4; Leucine Rich repeats (2 copies)
  4. NM_004928.2NP_004919.1  nuclear encoded mitochondrial protein C21orf2 isoform 1

    See identical proteins and their annotated locations for NP_004919.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a mitochondrial protein (isoform 1).
    Source sequence(s)
    BC072012, BM761336, Y11392
    Consensus CDS
    CCDS13709.1
    UniProtKB/Swiss-Prot
    O43822
    Related
    ENSP00000344566, OTTHUMP00000109512, ENST00000339818, OTTHUMT00000195799
    Conserved Domains (4) summary
    smart00446
    Location:104122
    LRRcap; occurring C-terminal to leucine-rich repeats
    sd00035
    Location:4263
    LRR_NTF; leucine-rich repeat [structural motif]
    pfam12799
    Location:4080
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:1974
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p7 Primary Assembly

    Range
    44328944..44339417 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028470.1XP_016883959.1  nuclear encoded mitochondrial protein C21orf2 isoform X1

  2. XM_017028472.1XP_016883961.1  nuclear encoded mitochondrial protein C21orf2 isoform X5

  3. XM_017028471.1XP_016883960.1  nuclear encoded mitochondrial protein C21orf2 isoform X3

  4. XM_006724053.3XP_006724116.1  nuclear encoded mitochondrial protein C21orf2 isoform X4

  5. XM_006724051.3XP_006724114.1  nuclear encoded mitochondrial protein C21orf2 isoform X2

    Conserved Domains (3) summary
    smart00446
    Location:129147
    LRRcap; occurring C-terminal to leucine-rich repeats
    sd00035
    Location:89112
    LRR_NTF; leucine-rich repeat [structural motif]
    pfam12799
    Location:87123
    LRR_4; Leucine Rich repeats (2 copies)

RNA

  1. XR_937571.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    45309668..45320019 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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