CCDC134 coiled-coil domain containing 134 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC134provided by HGNC
Official Full Name: coiled-coil domain containing 134provided by HGNC
Primary source: HGNC:HGNC:26185
See related: Ensembl:ENSG00000100147 MIM:618788; AllianceGenome:HGNC:26185
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: OI22
Summary: Involved in regulation of ossification. Located in cytosol and intracellular membrane-bounded organelle. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal (RPKM 4.9), bone marrow (RPKM 4.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41800679..41832164)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42279285..42310775)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (42196683..42228168)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

miRNA-1260b Promotes Breast Cancer Cell Migration and Invasion by Downregulating CCDC134.
Title: miRNA-1260b Promotes Breast Cancer Cell Migration and Invasion by Downregulating CCDC134.
Ccdc134 deficiency impairs cerebellar development and motor coordination.
Title: Ccdc134 deficiency impairs cerebellar development and motor coordination.
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Title: Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
CCDC134 may also act as a novel regulator of human alteration/deficiency in activation 2a, and be involved in the p300-CBP-associated factor complex and affect its acetyltransferase activity
Title: CCDC134 serves a crucial role in embryonic development.
CCDC134 promotes cell proliferation through the JAK3-STAT5 pathway.
Title: Cytokine-like molecule CCDC134 contributes to CD8⁺ T-cell effector functions in cancer immunotherapy.
The attenuated expression of CCDC134 promoted the activation of Erk1/2 and JNK/SAPK, but had no effect on p38 in gastric cancer.
Title: CCDC134 is down-regulated in gastric cancer and its silencing promotes cell migration and invasion of GES-1 and AGS cells via the MAPK pathway.
CCDC134 might act as a novel regulator of hADA2a, and plays roles in the PCAF complex via hADA2a to affect its acetyltransferase activity and UV-induced DNA damage repair.
Title: CCDC134 interacts with hADA2a and functions as a regulator of hADA2a in acetyltransferase activity, DNA damage-induced apoptosis and cell cycle arrest.
These results clearly indicate that CCDC134 is a novel member of the secretory family and down-regulates the Raf-1/MEK/ERK and JNK/ SAPK pathways.
Title: CCDC134, a novel secretory protein, inhibits activation of ERK and JNK, but not p38 MAPK.

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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

Associated conditions

Description	Tests
Osteogenesis imperfecta, IIA 22 MedGen: C5676943 OMIM: 619795 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of coiled-coil domain containing 134 (CCDC134) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-36258 (e-PCR)
- UniSTS:74538

G49425 (e-PCR)
- UniSTS:109170

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic liver development	IEA Inferred from Electronic Annotation more info
involved_in placenta development	IEA Inferred from Electronic Annotation more info
involved_in regulation of ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 134

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.

Genomic

NG_068430.1 RefSeqGene

Range

5001..36486

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001304797.2 → NP_001291726.1 coiled-coil domain-containing protein 134 isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks three alternate exons, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK299311, AL021453, CB240942, HY013338

Consensus CDS

CCDS77680.1

UniProtKB/TrEMBL

B0QY51, B4DRL0

Related

ENSP00000385803.3, ENST00000402061.7

Conserved Domains (1) summary

pfam15002
Location:29 → 77

ERK-JNK_inhib; ERK and JNK pathways, inhibitor
NM_001382346.1 → NP_001369275.1 coiled-coil domain-containing protein 134 isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AL021453

Consensus CDS

CCDS33654.1

UniProtKB/Swiss-Prot

Q9H6E4

Conserved Domains (1) summary

pfam15002
Location:29 → 195

ERK-JNK_inhib; ERK and JNK pathways, inhibitor
NM_024821.5 → NP_079097.1 coiled-coil domain-containing protein 134 isoform 1 precursor

See identical proteins and their annotated locations for NP_079097.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 encode the same isoform.

Source sequence(s)

AL021453, BC017693, BX473493, CB240942

Consensus CDS

CCDS33654.1

UniProtKB/Swiss-Prot

Q9H6E4

Related

ENSP00000255784.5, ENST00000255784.6

Conserved Domains (1) summary

pfam15002
Location:29 → 195

ERK-JNK_inhib; ERK and JNK pathways, inhibitor