Ccdc66 coiled-coil domain containing 66 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ccdc66provided by MGI
Official Full Name: coiled-coil domain containing 66provided by MGI
Primary source: MGI:MGI:2443639
See related: Ensembl:ENSMUSG00000046753 AllianceGenome:MGI:2443639
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: E230015L20Rik
Summary: Enables protein homodimerization activity. Involved in detection of light stimulus involved in visual perception. Acts upstream of or within post-embryonic retina morphogenesis in camera-type eye and retinal rod cell development. Located in photoreceptor inner segment. Is expressed in several structures, including cerebral cortex ventricular layer; ganglia; nucleus pulposus; spinal cord; and vibrissa. Used to study retinitis pigmentosa. Orthologous to human CCDC66 (coiled-coil domain containing 66). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 6.9), bladder adult (RPKM 6.7) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 A3; 14 16.51 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (27203047..27230467, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (27481090..27508510, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CCDC66 mutations are associated with high myopia through affected cell mitosis.
Title: CCDC66 mutations are associated with high myopia through affected cell mitosis.
Lack of protein CCDC66 causes early, slow progressive generalized progressive retinal atrophy in the Ccdc66 mutant mouse model.
Title: Ccdc66 null mutation causes retinal degeneration and dysfunction.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Endonuclease-mediated (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule bundle formation	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization to cilium	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Flemming body	ISO Inferred from Sequence Orthology more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
is_active_in photoreceptor inner segment	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 66

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_177111.3 → NP_796085.3 coiled-coil domain-containing protein 66

See identical proteins and their annotated locations for NP_796085.3

Status: VALIDATED

Source sequence(s)

BC070471

Consensus CDS

CCDS36843.1

UniProtKB/Swiss-Prot

Q3ULU6, Q6NS45, Q8C304, Q8C6T6

Related

ENSMUSP00000153023.2, ENSMUST00000223689.2

Conserved Domains (1) summary

pfam15236
Location:407 → 559

CCDC66; Coiled-coil domain-containing protein 66

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

27203047..27230467 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006519127.4 → XP_006519190.1 coiled-coil domain-containing protein 66 isoform X1

UniProtKB/Swiss-Prot

Q6NS45

Conserved Domains (2) summary

PTZ00121
Location:189 → 574

PTZ00121; MAEBL; Provisional

pfam15236
Location:375 → 526

CCDC66; Coiled-coil domain-containing protein 66
XM_030247861.2 → XP_030103721.1 coiled-coil domain-containing protein 66 isoform X5

Conserved Domains (1) summary

pfam15236
Location:60 → 211

CCDC66; Coiled-coil domain-containing protein 66
XM_006519131.4 → XP_006519194.1 coiled-coil domain-containing protein 66 isoform X3

UniProtKB/Swiss-Prot

Q6NS45

Related

ENSMUSP00000052546.8, ENSMUST00000050480.8

Conserved Domains (2) summary

PTZ00121
Location:66 → 451

PTZ00121; MAEBL; Provisional

pfam15236
Location:252 → 403

CCDC66; Coiled-coil domain-containing protein 66
XM_036158670.1 → XP_036014563.1 coiled-coil domain-containing protein 66 isoform X2

Conserved Domains (2) summary

PTZ00121
Location:188 → 573

PTZ00121; MAEBL; Provisional

pfam15236
Location:374 → 525

CCDC66; Coiled-coil domain-containing protein 66
XM_011245087.2 → XP_011243389.1 coiled-coil domain-containing protein 66 isoform X4

Conserved Domains (2) summary

PTZ00121
Location:222 → 590

PTZ00121; MAEBL; Provisional

pfam15236
Location:408 → 559

CCDC66; Coiled-coil domain-containing protein 66