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C12orf40 chromosome 12 open reading frame 40 [ Homo sapiens (human) ]

Gene ID: 283461, updated on 25-Jan-2022

Summary

Official Symbol
C12orf40provided by HGNC
Official Full Name
chromosome 12 open reading frame 40provided by HGNC
Primary source
HGNC:HGNC:26846
See related
Ensembl:ENSG00000180116 AllianceGenome:HGNC:26846
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
HEL-206; HEL-S-94
Expression
Biased expression in testis (RPKM 2.2) and brain (RPKM 0.2) See more
Orthologs
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Genomic context

See C12orf40 in Genome Data Viewer
Location:
12q12
Exon count:
22
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (39626183..39908300)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (40019985..40302102)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927019 Neighboring gene kinesin family member 21A Neighboring gene ribosomal protein L7a pseudogene 74 Neighboring gene ATP binding cassette subfamily D member 2 Neighboring gene solute carrier family 2 member 13 Neighboring gene uncharacterized LOC112268095 Neighboring gene ribosomal protein L30 pseudogene 13

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

  • FLJ40126

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
uncharacterized protein C12orf40
Names
epididymis luminal protein 206
epididymis secretory protein Li 94

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_001031748.4NP_001026918.2  uncharacterized protein C12orf40 isoform 1

    See identical proteins and their annotated locations for NP_001026918.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL705293, BC048120
    Consensus CDS
    CCDS41770.1
    UniProtKB/Swiss-Prot
    Q86WS4
    Related
    ENSP00000317671.5, ENST00000324616.9
    Conserved Domains (1) summary
    pfam15089
    Location:229652
    DUF4552; Domain of unknown function (DUF4552)
  2. NM_001319247.2NP_001306176.1  uncharacterized protein C12orf40 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two 3' coding exons and its transcription extends past a splice site used in the variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.
    Source sequence(s)
    AC125491, BC038754
    Consensus CDS
    CCDS81681.1
    UniProtKB/Swiss-Prot
    Q86WS4
    Related
    ENSP00000383897.3, ENST00000405531.7
    Conserved Domains (1) summary
    pfam15089
    Location:229470
    DUF4552; Domain of unknown function (DUF4552)

RNA

  1. NR_135051.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' region, contains an alternate exon in the central region, lacks the 3' terminal exon, and contains seven alternate 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC121335, AC121336, AC125491, AK097445
    Related
    ENST00000468200.2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    39626183..39908300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268806.3XP_005268863.1  uncharacterized protein C12orf40 isoform X1

    See identical proteins and their annotated locations for XP_005268863.1

    Conserved Domains (1) summary
    pfam15089
    Location:152575
    DUF4552; Domain of unknown function (DUF4552)
  2. XM_011538231.2XP_011536533.1  uncharacterized protein C12orf40 isoform X1

    See identical proteins and their annotated locations for XP_011536533.1

    Conserved Domains (1) summary
    pfam15089
    Location:152575
    DUF4552; Domain of unknown function (DUF4552)
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