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

Gene ID: 388963, updated on 5-Mar-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 transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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

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Location:
2p13.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74414177..74421619, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74422733..74430176, complement)
105.20220307 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)

Genotypes

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_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
    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

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