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C2orf49 chromosome 2 open reading frame 49 [ Homo sapiens (human) ]

Gene ID: 79074, updated on 18-Nov-2020

Summary

Official Symbol
C2orf49provided by HGNC
Official Full Name
chromosome 2 open reading frame 49provided by HGNC
Primary source
HGNC:HGNC:28772
See related
Ensembl:ENSG00000135974
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
asw
Expression
Ubiquitous expression in ovary (RPKM 7.4), endometrium (RPKM 6.7) and 25 other tissues See more
Orthologs

Genomic context

See C2orf49 in Genome Data Viewer
Location:
2q12.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (105337365..105359940)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (105953714..105976514)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transforming growth factor beta receptor associated protein 1 Neighboring gene G protein-coupled receptor 45 Neighboring gene C2orf49 divergent transcript Neighboring gene four and a half LIM domains 2 Neighboring gene uncharacterized LOC105373529 Neighboring gene VISTA enhancer hs2590

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, chromosome 2 open reading frame 49, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human chromosome 2 open reading frame 49 (C2orf49; Ashwin) at amino acid residues 29-30 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5509, FLJ45759

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
biological_process ND
No biological Data available
more info
 
embryonic morphogenesis IEA
Inferred from Electronic Annotation
more info
 
tRNA splicing, via endonucleolytic cleavage and ligation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
tRNA-splicing ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA-splicing ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001286537.2NP_001273466.1  ashwin isoform 2

    See identical proteins and their annotated locations for NP_001273466.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal segment but maintains the reading frame compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC012360, AK304268, BQ003369
    Consensus CDS
    CCDS74550.1
    UniProtKB/Swiss-Prot
    Q9BVC5
    UniProtKB/TrEMBL
    C9J4K0
    Related
    ENSP00000386361.1, ENST00000410049.1
    Conserved Domains (1) summary
    pfam15323
    Location:13190
    Ashwin; Developmental protein
  2. NM_024093.3NP_076998.1  ashwin isoform 1

    See identical proteins and their annotated locations for NP_076998.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC012360, BC001310, BQ003369
    Consensus CDS
    CCDS2068.1
    UniProtKB/Swiss-Prot
    Q9BVC5
    Related
    ENSP00000258457.2, ENST00000258457.7
    Conserved Domains (1) summary
    pfam15323
    Location:13232
    Ashwin; Developmental protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    105337365..105359940
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004892.2XP_016860381.1  ashwin isoform X2

    UniProtKB/Swiss-Prot
    Q9BVC5
    Conserved Domains (1) summary
    pfam15323
    Location:51228
    Ashwin; Developmental protein
  2. XM_024453136.1XP_024308904.1  ashwin isoform X2

    Conserved Domains (1) summary
    pfam15323
    Location:51228
    Ashwin; Developmental protein
  3. XM_024453135.1XP_024308903.1  ashwin isoform X1

    Conserved Domains (1) summary
    pfam15323
    Location:13232
    Ashwin; Developmental protein
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