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

Gene ID: 140680, updated on 3-Apr-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
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Genomic context

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Location:
20p13
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (270863..290750, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (313408..333932, complement)
105.20220307 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
  • 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

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_2023_10

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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