Ccdc34 MGI Mouse Gene Detail - MGI:1915451 - coiled-coil domain containing 34

Symbol

Ccdc34
Name

coiled-coil domain containing 34
Synonyms

2810027O19Rik, 4930522P10Rik

Feature Type

protein coding gene
IDs

MGI:1915451
NCBI Gene: 68201
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr2:109848162-110003705 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 56.66 cM
Mapping Data

3 experiments

SNPs within 2kb

521 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915451	protein coding gene	Chr2:109847816-110006007 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026243	protein coding gene	Chr2:112381959-112519645 (+)
A/J	MGP_AJ_G0026204	protein coding gene	Chr2:107680838-107826730 (+)
AKR/J	MGP_AKRJ_G0026184	protein coding gene	Chr2:110699604-110856203 (+)
BALB/cJ	MGP_BALBcJ_G0026213	protein coding gene	Chr2:107951583-108101722 (+)
C3H/HeJ	MGP_C3HHeJ_G0025963	protein coding gene	Chr2:110992921-111130111 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026665	protein coding gene	Chr2:116040394-116183283 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024050	protein coding gene	Chr2:103229227-103358900 (+)
CAST/EiJ	MGP_CASTEiJ_G0025428	protein coding gene	Chr2:111495582-111641027 (+)
CBA/J	MGP_CBAJ_G0025941	protein coding gene	Chr2:120037192-120183385 (+)
DBA/2J	MGP_DBA2J_G0026079	protein coding gene	Chr2:107173210-107326043 (+)
FVB/NJ	MGP_FVBNJ_G0026042	protein coding gene	Chr2:106107076-106227644 (+)
LP/J	MGP_LPJ_G0026182	protein coding gene	Chr2:112560615-112704933 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026066	protein coding gene	Chr2:124206255-124350205 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026718	protein coding gene	Chr2:110848571-110991501 (+)
PWK/PhJ	MGP_PWKPhJ_G0025163	protein coding gene	Chr2:106812695-106948855 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024963	protein coding gene	Chr2:110081964-110217887 (+)
WSB/EiJ	MGP_WSBEiJ_G0025495	protein coding gene	Chr2:111613475-111750893 (+)

Human Ortholog

CCDC34, coiled-coil domain containing 34

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CCDC34, coiled-coil domain containing 34
Synonyms

L15, NY-REN-41, RAMA3, SPGF76
Links

HGNC:25079

NCBI Gene ID: 91057

neXtProt AC: NX_Q96HJ3

UniProt: Q96HJ3
Chr Location

11p14.1; chr11:27330827-27363234 (-) GRCh38

MGI Vertebrate Homology

Ccdc34 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CCDC34
Gene Tree

Ccdc34

Diseases

1 with Ccdc34 mouse models; 1 with human CCDC34 associations

Human Disease

Mouse Models

spermatogenic failure

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

9 phenotypes from 2 alleles in 2 genetic backgrounds
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

4
Radiation induced

2
Targeted

2
Genomic Mutations

3 involving Ccdc34
Find Mice (IMSR)

25 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit oligoasthenoteratozoospermia.

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All GO Annotations

4
GO References

2

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

46
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ccdc34

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All Sequences

71
RefSeq

15
UniProt

6
CCDS

CCDS50655.1

Ensembl

ENSMUSG00000027160 (Evidence)
NCBI Gene

68201

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027160	Ensembl Gene Model \| MGI Sequence Detail	155544	C57BL/6J	± kb
transcript	ENSMUST00000028580	Ensembl \| MGI Sequence Detail	2070	Not Applicable
polypeptide	ENSMUSP00000028580	Ensembl \| MGI Sequence Detail	367	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000030200 coiled-coil domain-containing protein 34

(term hierarchy)
InterPro Domains

IPR045323 Coiled-coil domain-containing protein 34

IPR025259 Coiled-coil domain-containing protein 34/181

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All nucleic 48

Genomic 2

cDNA 46

Microarray probesets 4

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MGI:1922382, MGI:2139013

Summaries

All 37

Developmental Gene Expression 1

Diseases 1

Gene Ontology 2

Phenotypes 12
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:333018 Cong J, et al., Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice. J Med Genet. 2022 Jul;59(7):710-718

TSS for Ccdc34:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19317	Chr2:109848151-109848218 (+)	23 bp
Tssr19318	Chr2:109848224-109848235 (+)	68 bp
Tssr19319	Chr2:109852255-109852287 (+)	4,109 bp
Tssr19320	Chr2:109852292-109852306 (+)	4,137 bp
Tssr19321	Chr2:109852313-109852337 (+)	4,163 bp
Tssr19322	Chr2:109965401-109965405 (+)	117,241 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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