C19orf84 chromosome 19 open reading frame 84 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C19orf84provided by HGNC
Official Full Name: chromosome 19 open reading frame 84provided by HGNC
Primary source: HGNC:HGNC:27112
See related: Ensembl:ENSG00000262874 AllianceGenome:HGNC:27112
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 involved in retrotransposon silencing by piRNA-directed DNA methylation. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 8.4) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.41

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (51388289..51390591, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (54476920..54479222, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (51891543..51893845, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
Title: C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.

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)

General gene information

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Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in retrotransposon silencing by piRNA-directed DNA methylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: uncharacterized protein C19orf84

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)

NM_001193623.2 → NP_001180552.1 uncharacterized protein C19orf84

See identical proteins and their annotated locations for NP_001180552.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the supported protein.

Source sequence(s)

AC008750, BC043532

Consensus CDS

CCDS58676.1

UniProtKB/Swiss-Prot

I3L1E1

Related

ENSP00000458772.1, ENST00000574814.2

Conserved Domains (1) summary

PLN02205
Location:45 → 90

PLN02205; alpha,alpha-trehalose-phosphate synthase [UDP-forming]

RNA

NR_126530.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC008750, BC043532, BC143997