C8orf48 chromosome 8 open reading frame 48 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C8orf48provided by HGNC
Official Full Name: chromosome 8 open reading frame 48provided by HGNC
Primary source: HGNC:HGNC:26345
See related: Ensembl:ENSG00000164743 AllianceGenome:HGNC:26345
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
Orthologs: mouse all
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Genomic context

Location:: 8p22

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (13566869..13568288)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (13833370..13834789)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (13424378..13425797)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

C8orf48 inhibits the tumorigenesis of colorectal cancer by regulating the MAPK signaling pathway.
Title: C8orf48 inhibits the tumorigenesis of colorectal cancer by regulating the MAPK signaling pathway.

Submit: New GeneRIF Correction

Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

General protein information

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Preferred Names: uncharacterized protein C8orf48

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_001007090.3 → NP_001007091.2 uncharacterized protein C8orf48

Status: VALIDATED

Source sequence(s)

AC022832

Consensus CDS

CCDS47809.1

UniProtKB/Swiss-Prot

Q96LJ9, Q96LL4

Related

ENSP00000297324.4, ENST00000297324.5

Conserved Domains (1) summary

pfam15379
Location:166 → 268

DUF4606; Domain of unknown function (DUF4606)