CCDC65 coiled-coil domain containing 65 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC65provided by HGNC
Official Full Name: coiled-coil domain containing 65provided by HGNC
Primary source: HGNC:HGNC:29937
See related: Ensembl:ENSG00000139537 MIM:611088; AllianceGenome:HGNC:29937
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DRC2; FAP250; CFAP250; NYD-SP28
Summary: This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
Expression: Biased expression in testis (RPKM 23.6), lung (RPKM 1.9) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (48904133..48921576)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (48866309..48883770)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (49297916..49315359)

Chromosome 12 - NC_000012.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.
Title: CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.
CCDC65 as a new potential tumor suppressor induced by metformin inhibits activation of AKT1 via ubiquitination of ENO1 in gastric cancer.
Title: CCDC65 as a new potential tumor suppressor induced by metformin inhibits activation of AKT1 via ubiquitination of ENO1 in gastric cancer.
Mutation in CCDC65, a nexin-dynein regulatory complex member, resulted in a frameshift mutation and PCD
Title: CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.
NYD-SP28, a sperm tail protein, was cloned and characterized.
Title: Cloning and characterization of a novel sperm tail protein, NYD-SP28.

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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

Associated conditions

Description	Tests
Primary ciliary dyskinesia 27 MedGen: C3809701 OMIM: 615504 GeneReviews: Primary Ciliary Dyskinesia	Compare labs

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

Process	Evidence Code	Pubs
involved_in axonemal dynein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium-dependent cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cilium movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of axonemal dynein complex	IEA Inferred from Electronic Annotation more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dynein regulatory complex subunit 2

Names: testis development protein NYD-SP28

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.

Genomic

NG_033837.1 RefSeqGene

Range

5024..22467

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286957.2 → NP_001273886.1 dynein regulatory complex subunit 2 isoform 2

See identical proteins and their annotated locations for NP_001273886.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses alternate splice sites in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK302082, CA314956

UniProtKB/TrEMBL

B4DXQ7
NM_033124.5 → NP_149115.2 dynein regulatory complex subunit 2 isoform 1

See identical proteins and their annotated locations for NP_149115.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC039317, CA314956, DB026303

Consensus CDS

CCDS8772.1

UniProtKB/Swiss-Prot

A6NJG5, B2RBE2, Q8IXS2, Q8N7G4, Q8NA91, Q96JA0

Related

ENSP00000312706.4, ENST00000320516.5

Conserved Domains (1) summary

pfam14772
Location:27 → 124

NYD-SP28; Sperm tail