CCDC146 coiled-coil domain containing 146 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC146provided by HGNC
Official Full Name: coiled-coil domain containing 146provided by HGNC
Primary source: HGNC:HGNC:29296
See related: Ensembl:ENSG00000135205 MIM:619829; AllianceGenome:HGNC:29296
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: MBO2; SPGF94
Summary: Involved in spermatid development. Located in several cellular components, including microtubule organizing center; midbody; and sperm flagellum. Implicated in spermatogenic failure 94. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 14.9), skin (RPKM 7.4) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (77122615..77295204)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (78373727..78546266)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (76751932..76924521)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.
Title: Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice.
Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
Title: Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
The results suggest a model in which chlamydial proteins other than CT288 recruit CCDC146 to the periphery of the inclusion, where the CT288-CCDC146 interaction might contribute to modulate the function of this host protein.
Title: The Human Centrosomal Protein CCDC146 Binds Chlamydia trachomatis Inclusion Membrane Protein CT288 and Is Recruited to the Periphery of the Chlamydia-Containing Vacuole.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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

EBI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-156234 (e-PCR)
- UniSTS:184577

STS-Z36531 (e-PCR)
- UniSTS:18693

D7S2907 (e-PCR)
- UniSTS:21513

SGC34766 (e-PCR)
- UniSTS:65039

RH79020 (e-PCR)
- UniSTS:41747

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH99096 (e-PCR)
- UniSTS:92981

A009V32 (e-PCR)
- UniSTS:36178

L18426 (e-PCR)
- UniSTS:34648

RH122407 (e-PCR)
- UniSTS:135277

STS-R61236 (e-PCR)
- UniSTS:49548

WI-21151 (e-PCR)
- UniSTS:68263

RH17500 (e-PCR)
- UniSTS:53449

G32885 (e-PCR)
- UniSTS:117464

STS-F04943 (e-PCR)
- UniSTS:36848

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in manchette assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleus organization	IEA Inferred from Electronic Annotation more info
involved_in single fertilization	IEA Inferred from Electronic Annotation more info
involved_in sperm axoneme assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in sperm flagellum assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatid development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm head-tail coupling apparatus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 146

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_020879.3 → NP_065930.2 coiled-coil domain-containing protein 146

See identical proteins and their annotated locations for NP_065930.2

Status: VALIDATED

Source sequence(s)

AC007000, AK056542, BC036053, DB099681

Consensus CDS

CCDS34671.1

UniProtKB/Swiss-Prot

A8K8X6, Q8IYE0, Q9P223

Related

ENSP00000285871.4, ENST00000285871.5

Conserved Domains (1) summary

COG1196
Location:68 → 859

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

77122615..77295204

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420662.1 → XP_047276618.1 coiled-coil domain-containing protein 146 isoform X1

UniProtKB/Swiss-Prot

A8K8X6, Q8IYE0, Q9P223
XM_047420664.1 → XP_047276620.1 coiled-coil domain-containing protein 146 isoform X3
XM_047420669.1 → XP_047276625.1 coiled-coil domain-containing protein 146 isoform X8

Related

ENST00000415740.6
XM_047420665.1 → XP_047276621.1 coiled-coil domain-containing protein 146 isoform X4
XM_047420663.1 → XP_047276619.1 coiled-coil domain-containing protein 146 isoform X2
XM_047420666.1 → XP_047276622.1 coiled-coil domain-containing protein 146 isoform X5
XM_047420668.1 → XP_047276624.1 coiled-coil domain-containing protein 146 isoform X7
XM_047420667.1 → XP_047276623.1 coiled-coil domain-containing protein 146 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

78373727..78546266

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054358720.1 → XP_054214695.1 coiled-coil domain-containing protein 146 isoform X1

UniProtKB/Swiss-Prot

A8K8X6, Q8IYE0, Q9P223
XM_054358722.1 → XP_054214697.1 coiled-coil domain-containing protein 146 isoform X3
XM_054358727.1 → XP_054214702.1 coiled-coil domain-containing protein 146 isoform X8
XM_054358723.1 → XP_054214698.1 coiled-coil domain-containing protein 146 isoform X4
XM_054358724.1 → XP_054214699.1 coiled-coil domain-containing protein 146 isoform X5
XM_054358721.1 → XP_054214696.1 coiled-coil domain-containing protein 146 isoform X2
XM_054358726.1 → XP_054214701.1 coiled-coil domain-containing protein 146 isoform X7
XM_054358725.1 → XP_054214700.1 coiled-coil domain-containing protein 146 isoform X6