CCDC154 coiled-coil domain containing 154 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC154provided by HGNC
Official Full Name: coiled-coil domain containing 154provided by HGNC
Primary source: HGNC:HGNC:34454
See related: Ensembl:ENSG00000197599 MIM:618740; AllianceGenome:HGNC:34454
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: C16orf29
Summary: Predicted to be involved in bone mineralization involved in bone maturation. Predicted to act upstream of or within bone resorption; odontogenesis; and sensory perception of sound. Predicted to be located in early endosome. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in testis (RPKM 3.7), spleen (RPKM 1.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1434383..1444556, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1449044..1459216, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1484384..1494557, complement)

Chromosome 16 - NC_000016.10 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?

Coiled-coil domain-containing 154 promotes colorectal cancer proliferation and metastasis via interacting with minichromosome maintenance complex component 2.
Title: Coiled-coil domain-containing 154 promotes colorectal cancer proliferation and metastasis via interacting with minichromosome maintenance complex component 2.
CCDC154 is a novel osteopetrosis-related gene involved in cell cycle regulation and tumor suppression growth.
Title: Overexpression of a novel osteopetrosis-related gene CCDC154 suppresses cell proliferation by inducing G2/M arrest.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102989 (e-PCR)
- UniSTS:97323

RH12098 (e-PCR)
- UniSTS:44080

A005U10 (e-PCR)
- UniSTS:44081

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in bone mineralization involved in bone maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone resorption	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in tooth eruption	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in early endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 154

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.