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    C20orf96 chromosome 20 open reading frame 96 [ Homo sapiens (human) ]

    Gene ID: 140680, updated on 10-Oct-2024

    Summary

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    Official Symbol
    C20orf96provided by HGNC
    Official Full Name
    chromosome 20 open reading frame 96provided by HGNC
    Primary source
    HGNC:HGNC:16227
    See related
    Ensembl:ENSG00000196476 AllianceGenome:HGNC:16227
    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
    dJ1103G7.2
    Expression
    Broad expression in testis (RPKM 16.0), endometrium (RPKM 8.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C20orf96 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (270863..290750, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (313408..333932, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (251504..271391, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 129 Neighboring gene defensin beta 132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12561 Neighboring gene Sharpr-MPRA regulatory region 12860 Neighboring gene zinc finger CCHC-type containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12563 Neighboring gene NRSN2 antisense RNA 1

    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 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. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) 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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    Homology

    Clone Names

    • FLJ40075

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C20orf96

    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_080571.2 → NP_542138.1  uncharacterized protein C20orf96 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' region, compared to variant 1. The resulting isoform (2) has a distinct and one aa shorter N-termius, compared to isoform 1.
      Source sequence(s)
      AA921838, BC134417, BC144649, DB226405, DB320878, EL734555
      Consensus CDS
      CCDS74685.1
      UniProtKB/TrEMBL
      B7ZML9, F5GZA9
      Related
      ENSP00000383128.4, ENST00000400269.4
      Conserved Domains (1) summary
      pfam15397
      Location:104 → 361
      DUF4618; Domain of unknown function (DUF4618)

    2. NM_153269.3 → NP_695001.2  uncharacterized protein C20orf96 isoform 1

      See identical proteins and their annotated locations for NP_695001.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA921838, AK097394, BC134417, DB226405, DB320878, EL734555
      Consensus CDS
      CCDS12994.1
      UniProtKB/Swiss-Prot
      A3KPE0, B2RPH9, Q8N840, Q8NAX5, Q9NUD7
      UniProtKB/TrEMBL
      B7ZML9
      Related
      ENSP00000353470.2, ENST00000360321.7
      Conserved Domains (1) summary
      pfam15397
      Location:105 → 362
      DUF4618; Domain of unknown function (DUF4618)

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      270863..290750 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439898.1 → XP_047295854.1  uncharacterized protein C20orf96 isoform X3

    2. XM_047439899.1 → XP_047295855.1  uncharacterized protein C20orf96 isoform X4

      Related
      ENSP00000371806.5, ENST00000382369.9

    3. XM_047439897.1 → XP_047295853.1  uncharacterized protein C20orf96 isoform X2

    4. XM_047439896.1 → XP_047295852.1  uncharacterized protein C20orf96 isoform X1

    5. XM_047439900.1 → XP_047295856.1  uncharacterized protein C20orf96 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      313408..333932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322990.1 → XP_054178965.1  uncharacterized protein C20orf96 isoform X3

    2. XM_054322991.1 → XP_054178966.1  uncharacterized protein C20orf96 isoform X4

    3. XM_054322989.1 → XP_054178964.1  uncharacterized protein C20orf96 isoform X1

    4. XM_054322992.1 → XP_054178967.1  uncharacterized protein C20orf96 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUD7.2 GenPept UniProtKB/Swiss-Prot:Q9NUD7

    Gene LinkOut

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