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C6orf118 chromosome 6 open reading frame 118 [ Homo sapiens (human) ]

Gene ID: 168090, updated on 17-Sep-2024

Summary

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Official Symbol
C6orf118provided by HGNC
Official Full Name
chromosome 6 open reading frame 118provided by HGNC
Primary source
HGNC:HGNC:21233
See related
Ensembl:ENSG00000112539 AllianceGenome:HGNC:21233
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
bA85G2.1; dJ416F21.2
Expression
Biased expression in testis (RPKM 3.6), lung (RPKM 1.2) and 1 other tissue See more
Orthologs
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Genomic context

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See C6orf118 in Genome Data Viewer
Location:
6q27
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (165279664..165309605, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (166645732..166675678, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (165693153..165723094, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91179 Neighboring gene melanoma-associated transcript 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91213 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91215 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:165591001-165592200 Neighboring gene uncharacterized LOC124901500 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:165708186-165708356 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:165711405-165712604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:165714707-165715207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:165722813-165723312 Neighboring gene uncharacterized LOC105378113 Neighboring gene phosphodiesterase 10A Neighboring gene RNA, 5S ribosomal pseudogene 226

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. Functionathon: a manual data mining workflow to generate functional hypotheses for uncharacterized human proteins and its application by undergraduate students. Duek P, et al. Database (Oxford), 2021 Jul 28. PMID 34318869, Free PMC Article
  2. Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population. Hong EP, et al. PLoS One, 2017. PMID 28355295, Free PMC Article
  3. Testis-specific proteins, TSNAXIP1 and 1700010I14RIK, are important for sperm motility and male fertility in mice. Kaneda Y, et al. Andrology, 2023 Jul. PMID 36598146, Free PMC Article
  4. Genome-wide interaction studies reveal sex-specific asthma risk alleles. Myers RA, et al. Hum Mol Genet, 2014 Oct 1. PMID 24824216, Free PMC Article
  5. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738, Free PMC Article

See all (13) 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

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide interaction studies reveal sex-specific asthma risk alleles.
EBI GWAS Catalog

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

  • MGC23884

General protein information

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Preferred Names
uncharacterized protein C6orf118

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_144980.4 → NP_659417.2  uncharacterized protein C6orf118

    See identical proteins and their annotated locations for NP_659417.2

    Status: VALIDATED

    Source sequence(s)
    AI333765, BC026278, BM968092, DB454755
    Consensus CDS
    CCDS5288.1
    UniProtKB/Swiss-Prot
    Q5T5N4, Q8TC11
    Related
    ENSP00000230301.8, ENST00000230301.9
    Conserved Domains (1) summary
    pfam15739
    Location:248 → 351
    TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    165279664..165309605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266838.3 → XP_005266895.1  uncharacterized protein C6orf118 isoform X4

    Conserved Domains (1) summary
    pfam15739
    Location:248 → 351
    TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

  2. XM_011535510.2 → XP_011533812.1  uncharacterized protein C6orf118 isoform X2

    Conserved Domains (1) summary
    pfam15739
    Location:283 → 366
    TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

  3. XM_011535511.4 → XP_011533813.1  uncharacterized protein C6orf118 isoform X3

    Conserved Domains (1) summary
    pfam15739
    Location:283 → 386
    TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

  4. XM_011535509.2 → XP_011533811.1  uncharacterized protein C6orf118 isoform X1

    Conserved Domains (1) summary
    pfam15739
    Location:283 → 386
    TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

  5. XM_011535512.3 → XP_011533814.1  uncharacterized protein C6orf118 isoform X7

    See identical proteins and their annotated locations for XP_011533814.1

    Conserved Domains (1) summary
    pfam15739
    Location:144 → 247
    TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

  6. XM_047418256.1 → XP_047274212.1  uncharacterized protein C6orf118 isoform X6

  7. XM_017010323.1 → XP_016865812.1  uncharacterized protein C6orf118 isoform X5

RNA

  1. XR_942320.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    166645732..166675678 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354397.1 → XP_054210372.1  uncharacterized protein C6orf118 isoform X4

  2. XM_054354395.1 → XP_054210370.1  uncharacterized protein C6orf118 isoform X2

  3. XM_054354396.1 → XP_054210371.1  uncharacterized protein C6orf118 isoform X3

  4. XM_054354394.1 → XP_054210369.1  uncharacterized protein C6orf118 isoform X1

  5. XM_054354400.1 → XP_054210375.1  uncharacterized protein C6orf118 isoform X7

  6. XM_054354399.1 → XP_054210374.1  uncharacterized protein C6orf118 isoform X6

  7. XM_054354398.1 → XP_054210373.1  uncharacterized protein C6orf118 isoform X5

RNA

  1. XR_008487272.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T5N4.1 GenPept UniProtKB/Swiss-Prot:Q5T5N4

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