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C4orf19 chromosome 4 open reading frame 19 [ Homo sapiens (human) ]

Gene ID: 55286, updated on 21-Dec-2019

Summary

Official Symbol
C4orf19provided by HGNC
Official Full Name
chromosome 4 open reading frame 19provided by HGNC
Primary source
HGNC:HGNC:25618
See related
Ensembl:ENSG00000154274
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 colon (RPKM 5.5), stomach (RPKM 4.2) and 18 other tissues See more
Orthologs

Genomic context

See C4orf19 in Genome Data Viewer
Location:
4p14
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (37453454..37596146)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (37455552..37595132)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene microRNA 4801 Neighboring gene NACHT and WD repeat domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 2247 Neighboring gene RELT like 1 Neighboring gene HNF4 motif-containing MPRA enhancer 255 Neighboring gene uncharacterized LOC105374404

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

NHGRI GWAS Catalog

Description
Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11017

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
uncharacterized protein C4orf19

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_001104629.2NP_001098099.1  uncharacterized protein C4orf19

    See identical proteins and their annotated locations for NP_001098099.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC022463, AC027607, AI050941, AK225192, CF995148, DA684897
    Consensus CDS
    CCDS3442.1
    UniProtKB/Swiss-Prot
    Q8IY42
    UniProtKB/TrEMBL
    A0A024R9R1
    Related
    ENSP00000371408.4, ENST00000381980.9
    Conserved Domains (1) summary
    pfam15770
    Location:9314
    DUF4699; Domain of unknown function (DUF4699)
  2. NM_018302.2NP_060772.2  uncharacterized protein C4orf19

    See identical proteins and their annotated locations for NP_060772.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC027607, AI050941, AK001879, AK225192, BP220791
    Consensus CDS
    CCDS3442.1
    UniProtKB/Swiss-Prot
    Q8IY42
    UniProtKB/TrEMBL
    A0A024R9R1
    Related
    ENSP00000284437.6, ENST00000284437.6
    Conserved Domains (1) summary
    pfam15770
    Location:9314
    DUF4699; Domain of unknown function (DUF4699)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    37453454..37596146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513713.2XP_011512015.1  uncharacterized protein C4orf19 isoform X1

    See identical proteins and their annotated locations for XP_011512015.1

    UniProtKB/Swiss-Prot
    Q8IY42
    UniProtKB/TrEMBL
    A0A024R9R1
    Conserved Domains (1) summary
    pfam15770
    Location:9314
    DUF4699; Domain of unknown function (DUF4699)
  2. XM_011513712.2XP_011512014.1  uncharacterized protein C4orf19 isoform X1

    See identical proteins and their annotated locations for XP_011512014.1

    UniProtKB/Swiss-Prot
    Q8IY42
    UniProtKB/TrEMBL
    A0A024R9R1
    Conserved Domains (1) summary
    pfam15770
    Location:9314
    DUF4699; Domain of unknown function (DUF4699)
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