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C6orf136 chromosome 6 open reading frame 136 [ Homo sapiens (human) ]

Gene ID: 221545, updated on 5-Mar-2024

Summary

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Official Symbol
C6orf136provided by HGNC
Official Full Name
chromosome 6 open reading frame 136provided by HGNC
Primary source
HGNC:HGNC:21301
See related
Ensembl:ENSG00000204564 AllianceGenome:HGNC:21301
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
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in duodenum (RPKM 11.9), small intestine (RPKM 10.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
6p21.33
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30647133..30653207)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30511313..30517381)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30614910..30620984)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30585278-30585846 Neighboring gene mitochondrial ribosomal protein S18B Neighboring gene Sharpr-MPRA regulatory region 13793 Neighboring gene alpha tubulin acetyltransferase 1 Neighboring gene prothymosin alpha pseudogene 1 Neighboring gene DEAH-box helicase 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30638704-30639302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30640498-30641094 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:30642736-30642875 Neighboring gene protein phosphatase 1 regulatory subunit 18 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30649761-30650650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30650651-30651540 Neighboring gene nurim Neighboring gene ribosomal protein L7 pseudogene 4

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. A novel cuproptosis-related gene model predicts outcomes and treatment responses in pancreatic adenocarcinoma. Liu Q, et al. BMC Cancer, 2023 Mar 10. PMID 36894917, Free PMC Article
  2. FOXM1 induces a global methylation signature that mimics the cancer epigenome in head and neck squamous cell carcinoma. Teh MT, et al. PLoS One, 2012. PMID 22461910, Free PMC Article
  3. Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint. Bailey ML, et al. Genetics, 2015 Nov. PMID 26354767, Free PMC Article
  4. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article
  5. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. C6orf136 was found to be differentially methylated and differentially expressed in human squamous cell carcinomas
    Title: FOXM1 induces a global methylation signature that mimics the cancer epigenome in head and neck squamous cell carcinoma.
Submit: New GeneRIF Correction

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

  • MGC15854

General protein information

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Preferred Names
uncharacterized protein C6orf136

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_001109938.3 → NP_001103408.1  uncharacterized protein C6orf136 isoform 1

    See identical proteins and their annotated locations for NP_001103408.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AI536982, BC073975
    Consensus CDS
    CCDS43443.1
    UniProtKB/Swiss-Prot
    A9R9P9, F8VX15, Q5SQH8, Q5SU01, Q6ZSB7, Q8TB84
    UniProtKB/TrEMBL
    A0A1U9X7F4, A0A1U9X7G3
    Related
    ENSP00000365656.5, ENST00000376473.9
    Conserved Domains (1) summary
    pfam10184
    Location:149 → 274
    DUF2358; Uncharacterized conserved protein (DUF2358)

  2. NM_001161376.2 → NP_001154848.1  uncharacterized protein C6orf136 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is longer than isoform 1.
    Source sequence(s)
    AI536982, BC064397, DA200997
    Consensus CDS
    CCDS54979.1
    UniProtKB/TrEMBL
    Q0P5T2
    Related
    ENSP00000499201.1, ENST00000651131.1
    Conserved Domains (1) summary
    pfam10184
    Location:331 → 455
    DUF2358; Uncharacterized conserved protein (DUF2358)

  3. NM_145029.4 → NP_659466.2  uncharacterized protein C6orf136 isoform 2

    See identical proteins and their annotated locations for NP_659466.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    BM695485, BP255323, BQ022831
    Consensus CDS
    CCDS4684.2
    UniProtKB/Swiss-Prot
    Q5SQH8
    Related
    ENSP00000365654.4, ENST00000376471.8
    Conserved Domains (1) summary
    pfam10184
    Location:22 → 140
    DUF2358; Uncharacterized conserved protein (DUF2358)

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    30647133..30653207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514384.3 → XP_011512686.1  uncharacterized protein C6orf136 isoform X2

    See identical proteins and their annotated locations for XP_011512686.1

    UniProtKB/Swiss-Prot
    Q5SQH8
    Conserved Domains (1) summary
    pfam10184
    Location:6 → 131
    DUF2358; Uncharacterized conserved protein (DUF2358)

  2. XM_047418351.1 → XP_047274307.1  uncharacterized protein C6orf136 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    2126855..2132921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329749.1 → XP_054185724.1  uncharacterized protein C6orf136 isoform X2

  2. XM_054329748.1 → XP_054185723.1  uncharacterized protein C6orf136 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    1902962..1909030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330241.1 → XP_054186216.1  uncharacterized protein C6orf136 isoform X2

  2. XM_054330240.1 → XP_054186215.1  uncharacterized protein C6orf136 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    1957362..1963431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330532.1 → XP_054186507.1  uncharacterized protein C6orf136 isoform X2

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    1991183..1997257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330784.1 → XP_054186759.1  uncharacterized protein C6orf136 isoform X2

  2. XM_054330783.1 → XP_054186758.1  uncharacterized protein C6orf136 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    1902221..1908289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331021.1 → XP_054186996.1  uncharacterized protein C6orf136 isoform X2

  2. XM_054331020.1 → XP_054186995.1  uncharacterized protein C6orf136 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    1947892..1953958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331287.1 → XP_054187262.1  uncharacterized protein C6orf136 isoform X2

  2. XM_054331286.1 → XP_054187261.1  uncharacterized protein C6orf136 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    30511313..30517381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354599.1 → XP_054210574.1  uncharacterized protein C6orf136 isoform X2

  2. XM_054354598.1 → XP_054210573.1  uncharacterized protein C6orf136 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5SQH8.1 GenPept UniProtKB/Swiss-Prot:Q5SQH8

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