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

Gene ID: 85478, updated on 17-Jun-2019

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
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

Genomic context

See CCDC65 in Genome Data Viewer
Location:
12q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (48904133..48921576)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49297893..49325696)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 600, pseudogene Neighboring gene ribosomal protein L32 pseudogene 27 Neighboring gene FKBP prolyl isomerase 11 Neighboring gene ADP ribosylation factor 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25663, FLJ35732

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
axonemal dynein complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium-dependent cell motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axonemal dynein complex IEA
Inferred from Electronic Annotation
more info
 
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular_component ND
No biological Data available
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dynein regulatory complex subunit 2
Names
testis development protein NYD-SP28

NCBI Reference Sequences (RefSeq)

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

  1. NG_033837.1 RefSeqGene

    Range
    5001..22467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286957.2NP_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
  2. NM_033124.5NP_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
    Q8IXS2
    Related
    ENSP00000312706.4, ENST00000320516.5
    Conserved Domains (1) summary
    pfam14772
    Location:27123
    NYD-SP28; Sperm tail

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    48904133..48921576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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