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C16orf46 chromosome 16 open reading frame 46 [ Homo sapiens (human) ]

Gene ID: 123775, updated on 11-Jun-2021

Summary

Official Symbol
C16orf46provided by HGNC
Official Full Name
chromosome 16 open reading frame 46provided by HGNC
Primary source
HGNC:HGNC:26525
See related
Ensembl:ENSG00000166455
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
Broad expression in testis (RPKM 4.0), thyroid (RPKM 3.1) and 18 other tissues See more
Orthologs
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Genomic context

See C16orf46 in Genome Data Viewer
Location:
16q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (81053497..81077254, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81087102..81110843, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene centromere protein N Neighboring gene CENPN antisense RNA 1 Neighboring gene ATM interactor Neighboring gene uncharacterized LOC105371361 Neighboring gene glycine cleavage system protein H Neighboring gene RNA, U6 small nuclear 1191, pseudogene Neighboring gene polycystin 1 like 2 (gene/pseudogene)

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

Phenotypes

Associated conditions

Description Tests
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32702

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
uncharacterized protein C16orf46

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_001100873.2NP_001094343.1  uncharacterized protein C16orf46 isoform 1

    See identical proteins and their annotated locations for NP_001094343.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC092718, AK057264, BC064143, DA525473
    Consensus CDS
    CCDS42201.1
    UniProtKB/Swiss-Prot
    Q6P387
    Related
    ENSP00000367874.4, ENST00000378611.8
    Conserved Domains (1) summary
    pfam15032
    Location:1381
    DUF4529; Protein of unknown function (DUF4529)
  2. NM_152337.3NP_689550.2  uncharacterized protein C16orf46 isoform 2

    See identical proteins and their annotated locations for NP_689550.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks differs in the 5' UTR and in the 3' UTR and coding region compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA905107, AC092718, AK057264, BC064143, DA525473
    Consensus CDS
    CCDS10932.1
    UniProtKB/Swiss-Prot
    Q6P387
    Related
    ENSP00000299578.4, ENST00000299578.10
    Conserved Domains (1) summary
    pfam15032
    Location:1395
    DUF4529; Protein of unknown function (DUF4529)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    81053497..81077254 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022917.1XP_016878406.1  uncharacterized protein C16orf46 isoform X1

  2. XM_005255792.2XP_005255849.1  uncharacterized protein C16orf46 isoform X2

    See identical proteins and their annotated locations for XP_005255849.1

    UniProtKB/Swiss-Prot
    Q6P387
    Conserved Domains (1) summary
    pfam15032
    Location:1381
    DUF4529; Protein of unknown function (DUF4529)
  3. XM_017022916.1XP_016878405.1  uncharacterized protein C16orf46 isoform X1

  4. XM_011522849.2XP_011521151.2  uncharacterized protein C16orf46 isoform X1

  5. XM_011522848.2XP_011521150.2  uncharacterized protein C16orf46 isoform X1

  6. XM_024450149.1XP_024305917.1  uncharacterized protein C16orf46 isoform X3

    Conserved Domains (1) summary
    pfam15032
    Location:1122
    DUF4529; Protein of unknown function (DUF4529)
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