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CCDC27 coiled-coil domain containing 27 [ Homo sapiens (human) ]

Gene ID: 148870, updated on 23-Nov-2021

Summary

Official Symbol
CCDC27provided by HGNC
Official Full Name
coiled-coil domain containing 27provided by HGNC
Primary source
HGNC:HGNC:26546
See related
Ensembl:ENSG00000162592
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
Expression
Restricted expression toward testis (RPKM 5.1) See more
Orthologs
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Genomic context

See CCDC27 in Genome Data Viewer
Location:
1p36.32
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (3752398..3771645)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (3669014..3688209)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tumor protein p73 Neighboring gene uncharacterized LOC105378609 Neighboring gene TP73 antisense RNA 1 Neighboring gene small integral membrane protein 1 (Vel blood group) Neighboring gene RNA, 7SL, cytoplasmic 574, pseudogene Neighboring gene leucine rich repeat containing 47

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32825, MGC138313, MGC138317

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 27

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)

  1. NM_152492.3NP_689705.2  coiled-coil domain-containing protein 27

    See identical proteins and their annotated locations for NP_689705.2

    Status: VALIDATED

    Source sequence(s)
    AK057387, AL136528, BC112112, DB048639
    Consensus CDS
    CCDS50.1
    UniProtKB/Swiss-Prot
    Q2M243
    Related
    ENSP00000294600.2, ENST00000294600.7
    Conserved Domains (3) summary
    pfam10211
    Location:425511
    Ax_dynein_light; Axonemal dynein light chain
    pfam10267
    Location:465587
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    pfam15619
    Location:443606
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    3752398..3771645
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000402.1XP_016855891.1  coiled-coil domain-containing protein 27 isoform X1

  2. XM_017000403.1XP_016855892.1  coiled-coil domain-containing protein 27 isoform X2

  3. XM_011540780.1XP_011539082.1  coiled-coil domain-containing protein 27 isoform X4

    Conserved Domains (3) summary
    pfam10211
    Location:425511
    Ax_dynein_light; Axonemal dynein light chain
    pfam10267
    Location:465587
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    pfam15619
    Location:443606
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
  4. XM_017000404.2XP_016855893.1  coiled-coil domain-containing protein 27 isoform X3

  5. XM_017000405.1XP_016855894.1  coiled-coil domain-containing protein 27 isoform X5

  6. XM_017000406.1XP_016855895.1  coiled-coil domain-containing protein 27 isoform X6

RNA

  1. XR_001736991.1 RNA Sequence

    Related
    ENST00000462521.2
  2. XR_001736992.1 RNA Sequence

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