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

    Gene ID: 388963, updated on 27-Nov-2024

    Summary

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    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 AllianceGenome:HGNC:34350
    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 DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 6.4), kidney (RPKM 1.6) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C2orf81 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74414177..74421619, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74422733..74430176, complement)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr2:74607239-74607750 Neighboring gene DCTN1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74619101-74619643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74619644-74620185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16055 Neighboring gene high mobility group AT-hook 1 pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74653567-74654066 Neighboring gene WD repeat domain 54 Neighboring gene rhotekin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74663701-74664380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74666515-74667252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11661

    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. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621

    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)

    General gene information

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    Markers

    Homology

    General protein information

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    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_001145054.2 → NP_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/Swiss-Prot
      A0A087WXZ4, A6NN90
      UniProtKB/TrEMBL
      G3XAA6
      Related
      ENSP00000290390.5, ENST00000290390.9
      Conserved Domains (1) summary
      pfam15479
      Location:12 → 587
      DUF4639; Domain of unknown function (DUF4639)

    2. NM_001316764.3 → NP_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
      Consensus CDS
      CCDS92782.1
      UniProtKB/Swiss-Prot
      A0A087WXZ4, A6NN90
      UniProtKB/TrEMBL
      A0A804HJ35
      Related
      ENSP00000507340.1, ENST00000684111.1
      Conserved Domains (1) summary
      pfam15479
      Location:9 → 614
      DUF4639; Domain of unknown function (DUF4639)

    3. NM_001316765.2 → NP_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
      UniProtKB/Swiss-Prot
      A0A087WXZ4, A6NN90
      Conserved Domains (1) summary
      pfam15479
      Location:9 → 565
      DUF4639; Domain of unknown function (DUF4639)

    4. NM_001316766.2 → NP_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, E5RJQ4
      Related
      ENSP00000491941.1, ENST00000640868.1
      Conserved Domains (1) summary
      pfam15479
      Location:1 → 519
      DUF4639; Domain of unknown function (DUF4639)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74422733..74430176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NN90.3 GenPept UniProtKB/Swiss-Prot:A6NN90

    Gene LinkOut

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

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