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

Gene ID: 79074, updated on 5-Mar-2024

Summary

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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 AllianceGenome:HGNC:28772
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
Summary
Predicted to be involved in embryonic morphogenesis. Located in nucleus. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 7.4), endometrium (RPKM 6.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2q12.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (105337540..105385899)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (105798730..105846677)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (105953997..105965668)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:105866724-105867602 Neighboring gene transforming growth factor beta receptor associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16313 Neighboring gene Sharpr-MPRA regulatory region 6730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16315 Neighboring gene C2orf49 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:105985867-105986368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:105986369-105986868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16316 Neighboring gene four and a half LIM domains 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:106015289-106016111 Neighboring gene NANOG hESC enhancer GRCh37_chr2:106043866-106044367 Neighboring gene uncharacterized LOC105373529 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:106093757-106093969 Neighboring gene VISTA enhancer hs2590 Neighboring gene uncharacterized LOC105375311

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Novel gene ashwin functions in Xenopus cell survival and anteroposterior patterning. Patil SS, et al. Dev Dyn, 2006 Jul. PMID 16680723
  2. Analysis of orthologous groups reveals archease and DDX1 as tRNA splicing factors. Popow J, et al. Nature, 2014 Jul 3. PMID 24870230, Free PMC Article
  3. EML3 is a nuclear microtubule-binding protein required for the correct alignment of chromosomes in metaphase. Tegha-Dunghu J, et al. J Cell Sci, 2008 May 15. PMID 18445686
  4. The pseudophosphatase STYX targets the F-box of FBXW7 and inhibits SCFFBXW7 function. Reiterer V, et al. EMBO J, 2017 Feb 1. PMID 28007894, Free PMC Article
  5. A catalogue of putative HIV-1 protease host cell substrates. Impens F, et al. Biol Chem, 2012 Sep. PMID 22944692

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC5509, FLJ45759

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in embryonic morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in tRNA splicing, via endonucleolytic cleavage and ligation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
part_of tRNA-splicing ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of tRNA-splicing ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of tRNA-splicing ligase complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
ashwin

NCBI Reference Sequences (RefSeq)

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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_001286537.2 → NP_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/TrEMBL
    C9J4K0
    Related
    ENSP00000386361.1, ENST00000410049.1
    Conserved Domains (1) summary
    pfam15323
    Location:13 → 190
    Ashwin; Developmental protein

  2. NM_024093.3 → NP_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
    B3KXN3, B4E2G9, Q9BVC5
    Related
    ENSP00000258457.2, ENST00000258457.7
    Conserved Domains (1) summary
    pfam15323
    Location:13 → 232
    Ashwin; Developmental protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    105337540..105385899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445805.1 → XP_047301761.1  ashwin isoform X1

    UniProtKB/Swiss-Prot
    B3KXN3, B4E2G9, Q9BVC5

  2. XM_017004892.3 → XP_016860381.2  ashwin isoform X2

    UniProtKB/TrEMBL
    C9J4K0

  3. XM_024453135.2 → XP_024308903.1  ashwin isoform X1

    UniProtKB/Swiss-Prot
    B3KXN3, B4E2G9, Q9BVC5
    Conserved Domains (1) summary
    pfam15323
    Location:13 → 232
    Ashwin; Developmental protein

  4. XM_024453136.2 → XP_024308904.2  ashwin isoform X2

    UniProtKB/TrEMBL
    C9J4K0

RNA

  1. XR_007081585.1 RNA Sequence

  2. XR_007081586.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    105798730..105846677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343847.1 → XP_054199822.1  ashwin isoform X1

    UniProtKB/Swiss-Prot
    B3KXN3, B4E2G9, Q9BVC5

  2. XM_054343848.1 → XP_054199823.1  ashwin isoform X1

    UniProtKB/Swiss-Prot
    B3KXN3, B4E2G9, Q9BVC5

  3. XM_054343850.1 → XP_054199825.1  ashwin isoform X2

    UniProtKB/TrEMBL
    C9J4K0

  4. XM_054343849.1 → XP_054199824.1  ashwin isoform X2

    UniProtKB/TrEMBL
    C9J4K0

RNA

  1. XR_008486513.1 RNA Sequence

  2. XR_008486514.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BVC5.1 GenPept UniProtKB/Swiss-Prot:Q9BVC5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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