Ccdc50 MGI Mouse Gene Detail - MGI:1914751 - coiled-coil domain containing 50

Ccdc50 Gene Detail

Symbol

Ccdc50
Name

coiled-coil domain containing 50
Synonyms

2610529H08Rik, 5730448P06Rik, D16Bwg1543e

Feature Type

protein coding gene
IDs

MGI:1914751
NCBI Gene: 67501
Gene Overview

MyGene.info: CCDC50
Alliance

gene page

Sequence Map

Chr16:27388869-27452218 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

63350 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 18.98 cM
Mapping Data

5 experiments

Human Ortholog

CCDC50, coiled-coil domain containing 50

Vertebrate Orthologs

5

Human Ortholog

CCDC50, coiled-coil domain containing 50
Orthology source: HGNC
Synonyms

C3orf6, DFNA44, YMER
Links

HGNC:18111

NCBI Gene ID: 152137

neXtProt AC: NX_Q8IVM0

UniProt: Q8IVM0
Chr Location

3q28; chr3:191329082-191398670 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 69406
1 mouse;1 rat;1 cattle;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: CCDC50
Gene Tree

Ccdc50

Diseases

1 with human CCDC50 associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness 44 IDs autosomal dominant nonsyndromic deafness 44 DOID:0110569 ICD10CM:H90.3 OMIM:607453

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

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Phenotype Summary

7 phenotype references

All Mutations and Alleles

8
Gene trapped

5
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

19 strains or lines available

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All GO Annotations

3
GO References

1

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	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

125
Tissues

35
cDNA Data

169
Literature Summary

3

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ccdc50

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Ccdc50 interacts with 457 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

70
RefSeq

10
UniProt

4
CCDS

CCDS37305.1, CCDS37306.1
UniGene

258985

			Length	Strain/Species	Flank
genomic	OTTMUSG00000023490	VEGA Gene Model \| MGI Sequence Detail	63350	C57BL/6J	± kb
transcript	OTTMUST00000057171	VEGA \| MGI Sequence Detail	7089	Not Applicable
polypeptide	OTTMUSP00000027556	VEGA \| MGI Sequence Detail	305	Not Applicable

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SNPs within 2kb

334 from dbSNP Build 142

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UniProt

4 Sequences
Protein Ontology

PR:000005101 coiled-coil domain-containing protein 50

(term hierarchy)
InterPro Domains

IPR029311 Coiled-coil domain-containing protein 50, N-terminal

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All nucleic 183

cDNA 170

Primer pair 13

Microarray probesets 9

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MGD-MRK-35702, MGI:107237, MGI:1917850, MGI:2140546, MGI:2146653

Summaries

All 35

Developmental Gene Expression 3

Gene Ontology 1

Phenotypes 7
Earliest

J:44483 Brady KP, et al., Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. Genome Res. 1997 Nov;7(11):1085-93
Latest

J:130365 Singh S, et al., Transcriptional profiling of the megabladder mouse: a unique model of bladder dysmorphogenesis. Dev Dyn. 2008 Jan;237(1):170-86

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 05/15/2018 MGI 6.12