Ccdc28b MGI Mouse Gene Detail - MGI:1913514 - coiled coil domain containing 28B

Symbol

Ccdc28b
Name

coiled coil domain containing 28B
Synonyms

1110002E08Rik, 1810010N17Rik

Feature Type

protein coding gene
IDs

MGI:1913514
NCBI Gene: 66264
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr4:129513067-129517740 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 63.26 cM, cytoband D2.3
Mapping Data

2 experiments

SNPs within 2kb

183 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1913514	protein coding gene	Chr4:129513067-129517820 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0028834	protein coding gene	Chr4:131557040-131561513 (-)
A/J	MGP_AJ_G0028793	protein coding gene	Chr4:126296493-126300986 (-)
AKR/J	MGP_AKRJ_G0028746	protein coding gene	Chr4:129819705-129824186 (-)
BALB/cJ	MGP_BALBcJ_G0028816	protein coding gene	Chr4:126904087-126908582 (-)
C3H/HeJ	MGP_C3HHeJ_G0028530	protein coding gene	Chr4:129872920-129877397 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0029258	protein coding gene	Chr4:136501926-136506671 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026530	protein coding gene	Chr4:119426791-119431258 (-)
CAST/EiJ	MGP_CASTEiJ_G0027962	protein coding gene	Chr4:128062472-128066945 (-)
CBA/J	MGP_CBAJ_G0028496	protein coding gene	Chr4:139896811-139901302 (-)
DBA/2J	MGP_DBA2J_G0028645	protein coding gene	Chr4:126732751-126737230 (-)
FVB/NJ	MGP_FVBNJ_G0028612	protein coding gene	Chr4:125489216-125493685 (-)
LP/J	MGP_LPJ_G0028746	protein coding gene	Chr4:131837814-131842287 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028638	protein coding gene	Chr4:144703065-144707534 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029296	protein coding gene	Chr4:130189066-130193559 (-)
PWK/PhJ	MGP_PWKPhJ_G0027684	protein coding gene	Chr4:123333036-123337769 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0027510	protein coding gene	Chr4:126056977-126061490 (-)
WSB/EiJ	MGP_WSBEiJ_G0028043	protein coding gene	Chr4:130316200-130320673 (-)

Human Ortholog

CCDC28B, coiled-coil domain containing 28B

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CCDC28B, coiled-coil domain containing 28B
Links

HGNC:28163

NCBI Gene ID: 79140

neXtProt AC: NX_Q9BUN5

UniProt: Q9BUN5
Chr Location

1p35.2; chr1:32196011-32205453 (+) GRCh38

MGI Vertebrate Homology

Ccdc28b stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CCDC28B
Gene Tree

Ccdc28b

Diseases

2 with human CCDC28B associations

				Human Disease	Mouse Models
				Bardet-Biedl syndrome IDs Bardet-Biedl syndrome DOID:1935 ICD10CM:Q87.89 MESH:D020788 NCI:C118632 OMIM:PS209900 ORDO:110 UMLS_CUI:C0752166
				Bardet-Biedl syndrome 1 IDs Bardet-Biedl syndrome 1 DOID:0110123 ICD10CM:Q87.89 MESH:C537909 OMIM:209900

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

less

Phenotype Summary

10 phenotypes from 1 allele in 1 genetic background
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

11
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

3
Radiation induced

1
Targeted

3
Genomic Mutations

4 involving Ccdc28b
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

14 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mice with no protein expression show a mild cilia length decrease in the brain, social interaction defects, increase in stereotypical behaviors, and mild glucose management phenotype.

less

All GO Annotations

6
GO References

4

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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

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

798
Tissues

12
cDNA Data

9
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ccdc28b

ZFIN ccdc28b

less

All Sequences

57
RefSeq

6
UniProt

6
CCDS

CCDS18700.1

Ensembl

ENSMUSG00000028795 (Evidence)
NCBI Gene

66264

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028795	Ensembl Gene Model \| MGI Sequence Detail	4674	C57BL/6J	± kb
transcript	ENSMUST00000106035	Ensembl \| MGI Sequence Detail	821	Not Applicable
polypeptide	ENSMUSP00000101652	Ensembl \| MGI Sequence Detail	205	Not Applicable

less

UniProt

6 Sequences
Protein Ontology

PR:000032594 coiled-coil domain-containing protein 28B

(term hierarchy)
InterPro Domains

IPR025271 Coiled-coil domain-containing protein 28

less

All nucleic 9

cDNA 9

Microarray probesets 5

less

MGI:1921087

Summaries

All 35

Developmental Gene Expression 2

Gene Ontology 4

Phenotypes 12
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:325766 Fabregat M, et al., Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes. PLoS Genet. 2022 Jun;18(6):e1009896

TSS for Ccdc28b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr43545	Chr4:129517663-129517718 (-)	49 bp
Tssr43544	Chr4:129516738-129516745 (-)	998 bp
Tssr43543	Chr4:129515185-129515220 (-)	2,537 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24