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CCDC92 coiled-coil domain containing 92 [ Homo sapiens (human) ]

Gene ID: 80212, updated on 12-May-2019

Summary

Official Symbol
CCDC92provided by HGNC
Official Full Name
coiled-coil domain containing 92provided by HGNC
Primary source
HGNC:HGNC:29563
See related
Ensembl:ENSG00000119242
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
Broad expression in brain (RPKM 20.8), testis (RPKM 19.4) and 25 other tissues See more
Orthologs

Genomic context

See CCDC92 in Genome Data Viewer
Location:
12q24.31
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (123936409..123972985, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124420955..124457373, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370042 Neighboring gene ATPase H+ transporting V0 subunit a2 Neighboring gene ribosomal protein L27 pseudogene 12 Neighboring gene uncharacterized LOC105370044 Neighboring gene dynein axonemal heavy chain 10 Neighboring gene ZNF664-RFLNA readthrough Neighboring gene zinc finger protein 664 Neighboring gene refilin A Neighboring gene refilin A

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

  • FLJ22471

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
centriole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 92
Names
limkain beta 2

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.

mRNA and Protein(s)

  1. NM_001304957.1NP_001291886.1  coiled-coil domain-containing protein 92 isoform 1

    See identical proteins and their annotated locations for NP_001291886.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 encode the same protein (isoform 1).
    Source sequence(s)
    AK222661, BC017186, HY035895
    Consensus CDS
    CCDS9256.1
    UniProtKB/Swiss-Prot
    Q53HC0
    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  2. NM_001304958.1NP_001291887.1  coiled-coil domain-containing protein 92 isoform 1

    See identical proteins and their annotated locations for NP_001291887.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate exon in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 encode the same protein (isoform 1).
    Source sequence(s)
    BC017186, DA370549, HY035895
    Consensus CDS
    CCDS9256.1
    UniProtKB/Swiss-Prot
    Q53HC0
    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  3. NM_001304959.1NP_001291888.1  coiled-coil domain-containing protein 92 isoform 1

    See identical proteins and their annotated locations for NP_001291888.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate exon in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 encode the same protein (isoform 1).
    Source sequence(s)
    BC017186, DA263704
    Consensus CDS
    CCDS9256.1
    UniProtKB/Swiss-Prot
    Q53HC0
    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  4. NM_001304960.1NP_001291889.1  coiled-coil domain-containing protein 92 isoform 1

    See identical proteins and their annotated locations for NP_001291889.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1-5 encode the same protein (isoform 1).
    Source sequence(s)
    AC079315, AW953473, BC017186, DA263704
    Consensus CDS
    CCDS9256.1
    UniProtKB/Swiss-Prot
    Q53HC0
    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  5. NM_001304961.1NP_001291890.1  coiled-coil domain-containing protein 92 isoform 2

    See identical proteins and their annotated locations for NP_001291890.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks a 5' exon which results in the use of an in-frame, downstream start codon, compared to variant 1. This variant encodes an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BC017186, BX394686, HY035895
    Consensus CDS
    CCDS76619.1
    UniProtKB/Swiss-Prot
    Q53HC0
    Related
    ENSP00000440024.1, ENST00000545891.5
    Conserved Domains (1) summary
    pfam14916
    Location:762
    CCDC92; Coiled-coil domain of unknown function
  6. NM_025140.2NP_079416.1  coiled-coil domain-containing protein 92 isoform 1

    See identical proteins and their annotated locations for NP_079416.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1. Variants 1-5 encode the same protein (isoform 1).
    Source sequence(s)
    BC017186, HY035895
    Consensus CDS
    CCDS9256.1
    UniProtKB/Swiss-Prot
    Q53HC0
    Related
    ENSP00000238156.3, ENST00000238156.7
    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function

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.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    123936409..123972985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449193.1XP_024304961.1  coiled-coil domain-containing protein 92 isoform X1

    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  2. XM_024449197.1XP_024304965.1  coiled-coil domain-containing protein 92 isoform X1

    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  3. XM_024449194.1XP_024304962.1  coiled-coil domain-containing protein 92 isoform X1

    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  4. XM_024449196.1XP_024304964.1  coiled-coil domain-containing protein 92 isoform X1

    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  5. XM_024449195.1XP_024304963.1  coiled-coil domain-containing protein 92 isoform X1

    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  6. XM_024449199.1XP_024304967.1  coiled-coil domain-containing protein 92 isoform X1

    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  7. XM_005253624.2XP_005253681.1  coiled-coil domain-containing protein 92 isoform X1

    See identical proteins and their annotated locations for XP_005253681.1

    UniProtKB/Swiss-Prot
    Q53HC0
    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function
  8. XM_024449192.1XP_024304960.1  coiled-coil domain-containing protein 92 isoform X1

    Conserved Domains (2) summary
    pfam04111
    Location:45167
    APG6; Autophagy protein Apg6
    pfam14916
    Location:2479
    CCDC92; Coiled-coil domain of unknown function

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187590.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    109953..119347 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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