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C2orf72 chromosome 2 open reading frame 72 [ Homo sapiens (human) ]

Gene ID: 257407, updated on 5-Mar-2024

Summary

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Official Symbol
C2orf72provided by HGNC
Official Full Name
chromosome 2 open reading frame 72provided by HGNC
Primary source
HGNC:HGNC:27418
See related
Ensembl:ENSG00000204128 AllianceGenome:HGNC:27418
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
Expression
Biased expression in liver (RPKM 23.3), brain (RPKM 16.7) and 8 other tissues See more
Orthologs
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Genomic context

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Location:
2q37.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231037523..231049719)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (231522030..231534225)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (231902238..231914434)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr2:231850196-231850380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:231851885-231852384 Neighboring gene SPATA3 antisense RNA 1 (head to head) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:231860347-231860880 Neighboring gene spermatogenesis associated 3 Neighboring gene uncharacterized LOC112268432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12423 Neighboring gene proteasome 26S subunit, non-ATPase 1 Neighboring gene 5-hydroxytryptamine receptor 2B Neighboring gene RNA, U1 small nuclear 93, pseudogene

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. Hepatitis C virus enters liver cells using the CD81 receptor complex proteins calpain-5 and CBLB. Bruening J, et al. PLoS Pathog, 2018 Jul. PMID 30024968, Free PMC Article
  2. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
  4. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. Kovalski JR, et al. Mol Cell, 2019 Feb 21. PMID 30639242, Free PMC Article

See all (11) 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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

General protein information

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Preferred Names
uncharacterized protein C2orf72

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_001144994.2 → NP_001138466.1  uncharacterized protein C2orf72

    See identical proteins and their annotated locations for NP_001138466.1

    Status: VALIDATED

    Source sequence(s)
    AC009407, AF007149, AF070612, AV658788, DA141613, DB303203
    Consensus CDS
    CCDS46539.1
    UniProtKB/Swiss-Prot
    A6NCS6
    Related
    ENSP00000362743.4, ENST00000373640.5
    Conserved Domains (1) summary
    pfam15443
    Location:139 → 293
    DUF4630; Domain of unknown function (DUF4630)

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
    231037523..231049719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443876.1 → XP_047299832.1  uncharacterized protein C2orf72 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    231522030..231534225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341294.1 → XP_054197269.1  uncharacterized protein C2orf72 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NCS6.2 GenPept UniProtKB/Swiss-Prot:A6NCS6

Gene LinkOut

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

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