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CCDC116 coiled-coil domain containing 116 [ Homo sapiens (human) ]

Gene ID: 164592, updated on 25-Jan-2022

Summary

Official Symbol
CCDC116provided by HGNC
Official Full Name
coiled-coil domain containing 116provided by HGNC
Primary source
HGNC:HGNC:26688
See related
Ensembl:ENSG00000161180 AllianceGenome:HGNC:26688
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
Summary
Located in centrosome. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Restricted expression toward testis (RPKM 8.7) See more
Orthologs
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Genomic context

See CCDC116 in Genome Data Viewer
Location:
22q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (21632121..21637329)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21987049..21991618)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ubiquitin conjugating enzyme E2 L3 Neighboring gene VISTA enhancer hs2026 Neighboring gene YdjC chitooligosaccharide deacetylase homolog Neighboring gene stromal cell derived factor 2 like 1 Neighboring gene uncharacterized LOC107985532 Neighboring gene microRNA 301b

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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36046

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 116

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_001331066.2NP_001317995.1  coiled-coil domain-containing protein 116 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK302030, AP000553
    Consensus CDS
    CCDS87008.1
    UniProtKB/Swiss-Prot
    Q8IYX3
    Related
    ENSP00000476296.1, ENST00000607942.5
  2. NM_152612.3NP_689825.2  coiled-coil domain-containing protein 116 isoform 1

    See identical proteins and their annotated locations for NP_689825.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP000553, BC033499
    Consensus CDS
    CCDS13791.1
    UniProtKB/Swiss-Prot
    Q8IYX3
    Related
    ENSP00000292779.3, ENST00000292779.4
    Conserved Domains (1) summary
    pfam15774
    Location:18401
    DUF4702; Domain of unknown function (DUF4702)

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    21632121..21637329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529984.2XP_011528286.1  coiled-coil domain-containing protein 116 isoform X2

    Conserved Domains (1) summary
    pfam15774
    Location:1366
    DUF4702; Domain of unknown function (DUF4702)
  2. XM_006724159.2XP_006724222.1  coiled-coil domain-containing protein 116 isoform X1

    Conserved Domains (1) summary
    pfam15774
    Location:84467
    DUF4702; Domain of unknown function (DUF4702)
  3. XM_011529985.1XP_011528287.1  coiled-coil domain-containing protein 116 isoform X3

    Conserved Domains (1) summary
    pfam15774
    Location:84287
    DUF4702; Domain of unknown function (DUF4702)
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