CCDC34 coiled-coil domain containing 34 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCDC34provided by HGNC
Official Full Name: coiled-coil domain containing 34provided by HGNC
Primary source: HGNC:HGNC:25079
See related: Ensembl:ENSG00000109881 MIM:612324; AllianceGenome:HGNC:25079
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: L15; RAMA3; SPGF76; NY-REN-41
Summary: Involved in spermatogenesis. Located in sperm midpiece. Implicated in spermatogenic failure 76. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 12.6), colon (RPKM 2.4) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p14.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (27338512..27363215, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (27479013..27503719, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (27360059..27384762, complement)

Chromosome 11 - NC_000011.10 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?

Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.
Title: Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.
RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in Hepatocellular Carcinoma.
Title: RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in Hepatocellular Carcinoma.
Immunochemical staining data showed that CCDC34 expression was dramatically higher in CC than in adjacent normal tissues (71.6 vs. 20.9%; P<0.001). High expression of CCDC34 was strongly associated with histological grade (P=0.022), lymph node metastasis (P=0.044), and FIGO stage (P=0.002).
Title: High Expression of CCDC34 Is Associated with Poor Survival in Cervical Cancer Patients.
CCDC34 is overexpressed in esophageal squamous cell carcinoma.
Title: Overexpression of Coiled-Coil Domain-Containing Protein 34 (CCDC34) and its Correlation with Angiogenesis in Esophageal Squamous Cell Carcinoma.
Immunohistochemistry showed that expression levels of CCDC34 protein in pancreatic adenocarcinoma were significantly increased, compared with normal pancreas (P=0.000). Patients with pancreatic adenocarcinoma with increased expression of tissue CCDC34 had significantly reduced OS compared with patients with low expression (P=0.000).
Title: Expression of Coiled-Coil Domain Containing 34 (CCDC34) and its Prognostic Significance in Pancreatic Adenocarcinoma.
the present study demonstrated increased expression of CCDC34 protein in CRC tissues was associated with reduced apoptosis and increased metastasis in CRC cell line.
Title: Overexpression of CCDC34 in colorectal cancer and its involvement in tumor growth, apoptosis and invasion.
CCDC34 is up-regulated in bladder cancer and regulates bladder cancer cell proliferation, apoptosis and migration.
Title: CCDC34 is up-regulated in bladder cancer and regulates bladder cancer cell proliferation, apoptosis and migration.

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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
Spermatogenic failure 76 MedGen: C5774236 OMIM: 620084 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. 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

RH92404 (e-PCR)
- UniSTS:83793

RH47720 (e-PCR)
- UniSTS:79467

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 spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: coiled-coil domain-containing protein 34

Names: NY-REN-41 antigen; renal carcinoma antigen NY-REN-41

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_030771.2 → NP_110398.1 coiled-coil domain-containing protein 34 isoform 1

See identical proteins and their annotated locations for NP_110398.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC090597

Consensus CDS

CCDS31448.1

UniProtKB/Swiss-Prot

B2R8G2, Q8IX69, Q96HJ3, Q9H2A6, Q9Y599

Related

ENSP00000330240.5, ENST00000328697.11

Conserved Domains (1) summary

pfam13904
Location:61 → 321

DUF4207; Domain of unknown function (DUF4207)
NM_080654.3 → NP_542385.1 coiled-coil domain-containing protein 34 isoform 2

See identical proteins and their annotated locations for NP_542385.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several 3' coding exons, compared to variant 1, resulting in the shorter isoform (2).

Source sequence(s)

AC090597, AL555720, BC008496

Consensus CDS

CCDS7863.1

UniProtKB/Swiss-Prot

Q96HJ3

Related

ENSP00000321563.6, ENST00000317945.6

Conserved Domains (1) summary

cl25548
Location:60 → 202

DUF4670; Domain of unknown function (DUF4670)