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C2orf81 chromosome 2 open reading frame 81 [ Homo sapiens (human) ]

Gene ID: 388963, updated on 5-Jan-2022

Summary

Official Symbol
C2orf81provided by HGNC
Official Full Name
chromosome 2 open reading frame 81provided by HGNC
Primary source
HGNC:HGNC:34350
See related
Ensembl:ENSG00000284308
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
hCG40743
Summary
Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Broad expression in testis (RPKM 6.4), kidney (RPKM 1.6) and 18 other tissues See more
Orthologs
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Genomic context

See C2orf81 in Genome Data Viewer
Location:
2p13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74414177..74421619, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74641304..74648746, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene TATA-box binding protein associated factor 13 pseudogene 2 Neighboring gene dynactin subunit 1 Neighboring gene DCTN1 antisense RNA 1 Neighboring gene high mobility group AT-hook 1 pseudogene 8 Neighboring gene WD repeat domain 54 Neighboring gene rhotekin Neighboring gene INO80B-WBP1 readthrough (NMD candidate) Neighboring gene INO80 complex subunit B

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

General gene information

Markers

Homology

General protein information

Preferred Names
uncharacterized protein C2orf81

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_001145054.2NP_001138526.1  uncharacterized protein C2orf81 isoform 4

    See identical proteins and their annotated locations for NP_001138526.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate exon in the 5' UTR and 5' coding region and uses an alternate splice junction in the central coding region, compared to variant 1. These difference result in the use of an alternate start codon compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC005041, BM045416, BX102034
    UniProtKB/TrEMBL
    G3XAA6
    Related
    ENSP00000290390.5, ENST00000290390.9
    Conserved Domains (1) summary
    pfam15479
    Location:12587
    DUF4639; Domain of unknown function (DUF4639)
  2. NM_001316764.3NP_001303693.1  uncharacterized protein C2orf81 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
    Source sequence(s)
    AC005041
    Related
    ENSP00000507340.1, ENST00000684111.1
    Conserved Domains (1) summary
    pfam15479
    Location:9614
    DUF4639; Domain of unknown function (DUF4639)
  3. NM_001316765.2NP_001303694.1  uncharacterized protein C2orf81 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC005041, BX102034, HY047622
    Conserved Domains (1) summary
    pfam15479
    Location:9565
    DUF4639; Domain of unknown function (DUF4639)
  4. NM_001316766.2NP_001303695.1  uncharacterized protein C2orf81 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) retains an intron in the 5' UTR which results in the use of a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC005041, BU184705, BX102034
    Consensus CDS
    CCDS86853.1
    UniProtKB/TrEMBL
    A0A1W2PQG2
    Related
    ENSP00000491941.1, ENST00000640868.1
    Conserved Domains (1) summary
    pfam15479
    Location:1519
    DUF4639; Domain of unknown function (DUF4639)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    74414177..74421619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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