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

Gene ID: 221545, updated on 1-Jun-2020

Summary

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
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
Expression
Ubiquitous expression in duodenum (RPKM 11.9), small intestine (RPKM 10.3) and 25 other tissues See more
Orthologs

Genomic context

See C6orf136 in Genome Data Viewer
Location:
6p21.33
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (30647133..30653207)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30614816..30620987)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes 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 protein phosphatase 1 regulatory subunit 18 Neighboring gene Sharpr-MPRA regulatory region 567 Neighboring gene nurim

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC15854

General protein information

Preferred Names
uncharacterized protein C6orf136

NCBI Reference Sequences (RefSeq)

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_001109938.3NP_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
    Q5SQH8
    UniProtKB/TrEMBL
    A0A1U9X7F4
    Related
    ENSP00000365656.5, ENST00000376473.9
    Conserved Domains (1) summary
    pfam10184
    Location:149274
    DUF2358; Uncharacterized conserved protein (DUF2358)
  2. NM_001161376.2NP_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:331455
    DUF2358; Uncharacterized conserved protein (DUF2358)
  3. NM_145029.4NP_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:22140
    DUF2358; Uncharacterized conserved protein (DUF2358)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011514384.2XP_011512686.1  uncharacterized protein C6orf136 isoform X1

    See identical proteins and their annotated locations for XP_011512686.1

    UniProtKB/Swiss-Prot
    Q5SQH8
    Conserved Domains (1) summary
    pfam10184
    Location:6131
    DUF2358; Uncharacterized conserved protein (DUF2358)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

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

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

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

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

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

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

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

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

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

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

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