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CCDC146 coiled-coil domain containing 146 [ Homo sapiens (human) ]

Gene ID: 57639, updated on 6-Sep-2022

Summary

Official Symbol
CCDC146provided by HGNC
Official Full Name
coiled-coil domain containing 146provided by HGNC
Primary source
HGNC:HGNC:29296
See related
Ensembl:ENSG00000135205 MIM:619829; AllianceGenome:HGNC:29296
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
Also known as
MBO2
Summary
Located in centriole. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 14.9), skin (RPKM 7.4) and 22 other tissues See more
Orthologs
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Genomic context

See CCDC146 in Genome Data Viewer
Location:
7q11.23
Exon count:
23
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (77122615..77295204)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (78373727..78546266)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76751932..76924521)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 pseudogene Neighboring gene family with sequence similarity 185, member A pseudogene Neighboring gene uncharacterized LOC124901678 Neighboring gene ribosomal protein L7a pseudogene 43 Neighboring gene uncharacterized LOC105375359 Neighboring gene fibrinogen like 2 Neighboring gene uncharacterized LOC102723791 Neighboring gene gamma-secretase activating protein Neighboring gene uncharacterized LOC101927243 Neighboring gene small nucleolar RNA U13

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
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
EBI GWAS Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1505

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
coiled-coil domain-containing protein 146

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_020879.3NP_065930.2  coiled-coil domain-containing protein 146

    See identical proteins and their annotated locations for NP_065930.2

    Status: VALIDATED

    Source sequence(s)
    AC007000, AK056542, BC036053, DB099681
    Consensus CDS
    CCDS34671.1
    UniProtKB/Swiss-Prot
    Q8IYE0, Q9P223
    UniProtKB/TrEMBL
    Q96MS1
    Related
    ENSP00000285871.4, ENST00000285871.5
    Conserved Domains (1) summary
    COG1196
    Location:68859
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    77122615..77295204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420662.1XP_047276618.1  coiled-coil domain-containing protein 146 isoform X1

    UniProtKB/Swiss-Prot
    Q9P223
  2. XM_047420664.1XP_047276620.1  coiled-coil domain-containing protein 146 isoform X3

  3. XM_047420669.1XP_047276625.1  coiled-coil domain-containing protein 146 isoform X8

    Related
    ENST00000415740.6
  4. XM_047420665.1XP_047276621.1  coiled-coil domain-containing protein 146 isoform X4

  5. XM_047420663.1XP_047276619.1  coiled-coil domain-containing protein 146 isoform X2

  6. XM_047420666.1XP_047276622.1  coiled-coil domain-containing protein 146 isoform X5

  7. XM_047420668.1XP_047276624.1  coiled-coil domain-containing protein 146 isoform X7

  8. XM_047420667.1XP_047276623.1  coiled-coil domain-containing protein 146 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    78373727..78546266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)