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

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 AllianceGenome:HGNC:29563
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: Enables identical protein binding activity. Located in centriole; centrosome; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in brain (RPKM 20.8), testis (RPKM 19.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (123935626..123972831, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (123937063..123974347, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (124420173..124457378, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel genetic variants of CCDC92 were associated with both Diabetes and Coronary Artery Disease .
Title: The Genetic Link Between Diabetes and Atherosclerosis.
The genotypic and allelic frequencies of the rs11057401 SNP of CCDC92 gene were significantly different between the patients with coronary heart disease and controls.
Title: Association between single nucleotide polymorphism rs11057401 of CCDC92 gene and the risk of coronary heart disease (CHD).
Phenome-wide association scanning showed that CCDC92 likely affects coronary artery disease through insulin resistance pathways, whereas experimental analysis suggests that ARHGEF26 influences the transendothelial migration of leukocytes.
Title: Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.
Mutation in CCDC92 gene is associated with insulin-resistant cardiometabolic disease.
Title: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GC32S043 (e-PCR)
- UniSTS:464650

RH102483 (e-PCR)
- UniSTS:96817

D12S2066 (e-PCR)
- UniSTS:72013

WI-12482 (e-PCR)
- UniSTS:11115

A004O46 (e-PCR)
- UniSTS:77477

STS-Z41302 (e-PCR)
- UniSTS:74207

SHGC-104021 (e-PCR)
- UniSTS:182502

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in regulation of defense response to virus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 92

Names: limkain beta 2

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)

NM_001304957.2 → NP_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)

AC079315, AK222661, BC017186, HY035895

Consensus CDS

CCDS9256.1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
NM_001304958.2 → NP_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)

AC079315, BC017186, DA370549, HY035895

Consensus CDS

CCDS9256.1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
NM_001304959.2 → NP_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)

AC079315, BC017186, DA263704

Consensus CDS

CCDS9256.1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
NM_001304960.2 → NP_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

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
NM_001304961.2 → NP_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)

AC079315, BC017186, BX394686, HY035895

Consensus CDS

CCDS76619.1

UniProtKB/Swiss-Prot

Q53HC0

Related

ENSP00000440024.1, ENST00000545891.5

Conserved Domains (1) summary

pfam14916
Location:7 → 62

CCDC92; Coiled-coil domain of unknown function
NM_025140.3 → NP_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)

AC079315, BC017186, HY035895

Consensus CDS

CCDS9256.1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Related

ENSP00000238156.3, ENST00000238156.8

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

123935626..123972831 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429566.1 → XP_047285522.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697
XM_024449197.2 → XP_024304965.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
XM_024449194.2 → XP_024304962.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
XM_024449193.2 → XP_024304961.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
XM_024449196.2 → XP_024304964.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
XM_024449199.2 → XP_024304967.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
XM_005253624.3 → XP_005253681.1 coiled-coil domain-containing protein 92 isoform X1

See identical proteins and their annotated locations for XP_005253681.1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
XM_047429567.1 → XP_047285523.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697
XM_024449192.2 → XP_024304960.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Conserved Domains (2) summary

pfam04111
Location:45 → 167

APG6; Autophagy protein Apg6

pfam14916
Location:24 → 79

CCDC92; Coiled-coil domain of unknown function
XM_047429565.1 → XP_047285521.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187590.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

109170..119347 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

123937063..123974347 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054373288.1 → XP_054229263.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697
XM_054373285.1 → XP_054229260.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697
XM_054373284.1 → XP_054229259.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697
XM_054373283.1 → XP_054229258.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697
XM_054373286.1 → XP_054229261.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697
XM_054373287.1 → XP_054229262.1 coiled-coil domain-containing protein 92 isoform X1

UniProtKB/Swiss-Prot

B3KNQ0, Q53HC0, Q9H697