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C9orf152 chromosome 9 open reading frame 152 [ Homo sapiens (human) ]

Gene ID: 401546, updated on 5-Mar-2024

Summary

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Official Symbol
C9orf152provided by HGNC
Official Full Name
chromosome 9 open reading frame 152provided by HGNC
Primary source
HGNC:HGNC:31455
See related
Ensembl:ENSG00000188959 AllianceGenome:HGNC:31455
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
bA470J20.2
Expression
Biased expression in colon (RPKM 16.0), stomach (RPKM 13.2) and 9 other tissues See more
Orthologs
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Genomic context

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Location:
9q31.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (110199561..110208159, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (122369091..122377694, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (112961841..112970439, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PALM2 and AKAP2 fusion Neighboring gene uncharacterized LOC124902244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28783 Neighboring gene uncharacterized LOC105376217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:112969108-112969608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:112969609-112970109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20174 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:113019051-113020250 Neighboring gene uncharacterized LOC107987114 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_104724 Neighboring gene uncharacterized LOC124902246 Neighboring gene thioredoxin

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 lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. Ozyildirim AM, et al. Invest Ophthalmol Vis Sci, 2005 May. PMID 15851553
  2. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
  3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (7) 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

Clone Names

  • MGC131682

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 C9orf152

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_001012993.3 → NP_001013011.2  uncharacterized protein C9orf152

    See identical proteins and their annotated locations for NP_001013011.2

    Status: VALIDATED

    Source sequence(s)
    AL353598
    Consensus CDS
    CCDS35102.2
    UniProtKB/Swiss-Prot
    A8MWT6, Q5JTZ5
    UniProtKB/TrEMBL
    A8K2L3
    Related
    ENSP00000383456.4, ENST00000400613.5
    Conserved Domains (1) summary
    pfam15733
    Location:39 → 154
    DUF4682; Domain of unknown function (DUF4682)

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    110199561..110208159 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    122369091..122377694 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5JTZ5.2 GenPept UniProtKB/Swiss-Prot:Q5JTZ5

Gene LinkOut

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

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