C4orf46 chromosome 4 open reading frame 46 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C4orf46provided by HGNC
Official Full Name: chromosome 4 open reading frame 46provided by HGNC
Primary source: HGNC:HGNC:27320
See related: Ensembl:ENSG00000205208 MIM:616210; AllianceGenome:HGNC:27320
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: RCDG1
Summary: This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Expression: Broad expression in testis (RPKM 8.9), bone marrow (RPKM 5.4) and 22 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 4q32.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (158666675..158672056, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (162017410..162022804, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (159587827..159593208, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A reduction in RCDG1 expression may be associated with the oncogenesis of renal cell carcinoma and the differentiation of clear cell renal cell carcinoma.
Title: Expression and clinical significance of RCDG1 in renal cell carcinoma: a novel renal cancer‑associated gene.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-33796 (e-PCR)
- UniSTS:54841

RH93633 (e-PCR)
- UniSTS:91709

STS-T95868 (e-PCR)
- UniSTS:41336

ECD04752 (e-PCR)
- UniSTS:285823

REN95180 (e-PCR)
- UniSTS:419978

REN95182 (e-PCR)
- UniSTS:419980

stSG608963 (e-PCR)
- UniSTS:448464

STS-W61113 (e-PCR)
- UniSTS:13535

RH41930 (e-PCR)
- UniSTS:89334

Gene Ontology Provided by GOA

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

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

General protein information

Go to the top of the page Help

Preferred Names: renal cancer differentiation gene 1 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_033150.1 RefSeqGene

Range

5369..10581

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001008393.4 → NP_001008394.1 renal cancer differentiation gene 1 protein

See identical proteins and their annotated locations for NP_001008394.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.

Source sequence(s)

AC107219, BC094775, BU688970

Consensus CDS

CCDS34088.1

UniProtKB/Swiss-Prot

B3KNH7, Q504U0

Related

ENSP00000368503.4, ENST00000379205.5

Conserved Domains (1) summary

pfam15725
Location:5 → 87

RCDG1; Renal cancer differentiation gene 1 protein

RNA

NR_077234.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AC107219, AK311718, BU688970
NR_077235.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' exon and uses an alternate splice site in the 3' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AC107219, BI823282, BU688970