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

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
Transcription Start Sites

9 TSS

Sequence Map

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

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 18.98 cM
Mapping Data

5 experiments

SNPs within 2kb

334 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914751	protein coding gene	Chr16:27387065-27452218 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022700	protein coding gene	Chr16:25162773-25221236 (+)
A/J	MGP_AJ_G0022663	protein coding gene	Chr16:23976810-24032602 (+)
AKR/J	MGP_AKRJ_G0022637	protein coding gene	Chr16:24937265-24994602 (+)
BALB/cJ	MGP_BALBcJ_G0022667	protein coding gene	Chr16:24177196-24232673 (+)
C3H/HeJ	MGP_C3HHeJ_G0022432	protein coding gene	Chr16:25050068-25106882 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023116	protein coding gene	Chr16:25693709-25755089 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020634	protein coding gene	Chr16:24518522-24575071 (+)
CAST/EiJ	MGP_CASTEiJ_G0021960	protein coding gene	Chr16:25087863-25149570 (+)
CBA/J	MGP_CBAJ_G0022402	protein coding gene	Chr16:26822096-26877610 (+)
DBA/2J	MGP_DBA2J_G0022535	protein coding gene	Chr16:23917951-23976519 (+)
FVB/NJ	MGP_FVBNJ_G0022510	protein coding gene	Chr16:23896896-23954117 (+)
LP/J	MGP_LPJ_G0022602	protein coding gene	Chr16:24938092-24995462 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022529	protein coding gene	Chr16:26297682-26369247 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023128	protein coding gene	Chr16:24898214-24954255 (+)
PWK/PhJ	MGP_PWKPhJ_G0021699	protein coding gene	Chr16:24187816-24245494 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021530	protein coding gene	Chr16:24628870-24691870 (+)
WSB/EiJ	MGP_WSBEiJ_G0022004	protein coding gene	Chr16:24836604-24892921 (+)

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

2 phenotypes from 1 allele in 1 genetic background
8 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Gene trapped

5
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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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	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

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

756
Tissues

35
cDNA Data

171
Literature Summary

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

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

83
RefSeq

12
UniProt

5
CCDS

CCDS37305.1, CCDS37306.1
UniGene

258985

Ensembl

ENSMUSG00000038127 (Evidence)
NCBI Gene

67501

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038127	Ensembl Gene Model \| MGI Sequence Detail	63350	C57BL/6J	± kb
transcript	ENSMUST00000239351	Ensembl \| MGI Sequence Detail	1779	Not Applicable
polypeptide	ENSMUSP00000159204	Ensembl \| MGI Sequence Detail	480	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000005101 coiled-coil domain-containing protein 50

(term hierarchy)
InterPro Domains

IPR039303 Coiled-coil domain-containing protein 50

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

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All nucleic 185

cDNA 172

Primer pair 13

Microarray probesets 9

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

Summaries

All 36

Developmental Gene Expression 3

Gene Ontology 1

Phenotypes 8
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

TSS for Ccdc50:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137820	Chr16:27388755-27388758 (+)	-112 bp
Tssr137821	Chr16:27388848-27388859 (+)	-15 bp
Tssr137822	Chr16:27388949-27388966 (+)	89 bp
Tssr137823	Chr16:27388972-27388998 (+)	116 bp
Tssr137824	Chr16:27389004-27389031 (+)	149 bp
Tssr137825	Chr16:27389034-27389089 (+)	193 bp
Tssr137826	Chr16:27389097-27389111 (+)	235 bp
Tssr137827	Chr16:27389911-27389943 (+)	1,058 bp
Tssr137837	Chr16:27450387-27450393 (+)	61,521 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)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 02/23/2021 MGI 6.16