Ubb MGI Mouse Gene Detail - MGI:98888

Ubb Gene Detail

Symbol

Ubb
Name

ubiquitin B
Synonyms

Ubb2

Feature Type

protein coding gene
IDs

MGI:98888
NCBI Gene: 22187
Gene Overview

MyGene.info: UBB

Sequence Map

Chr11:62551171-62553213 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

2043 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 38.46 cM
Mapping Data

3 experiments

Human Ortholog

UBB, ubiquitin B

Vertebrate Orthologs

5

Human Ortholog

UBB, ubiquitin B
Orthology source: HGNC
Synonyms

HEL-S-50
Links

HGNC:12463

NCBI Gene ID: 7314

neXtProt AC: NX_P0CG47

UniProt: P0CG47
Chr Location

17p11.2; chr17:16380793-16382745 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 74981
1 mouse;1 rat;1 cattle;1 chicken;1 frog, western clawed
HCOP

human homology predictions: UBB
Gene Tree

Ubb

Diseases

1 with human UBB associations

				Human Disease	Mouse Models
				isolated cleft palate IDs isolated cleft palate DOID:0110213 ICD10CM:Q35.1 ICD10CM:Q35.3 ICD10CM:Q35.5 ICD10CM:Q35.7 ICD10CM:Q35.9 OMIM:119540 ORDO:2014

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

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Phenotype Summary

29 phenotypes from 1 allele in 1 genetic background
8 phenotypes from multigenic genotypes
2 images
27 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

20
Chemically induced (other)

1
Gene trapped

11
Targeted

5
Transgenic

3
Genomic Mutations

1 involving Ubb
Incidental Mutations

Mutagenetix , CvDC
Find Mice (IMSR)

11 strains or lines available

Targeted disruption of this gene results in progressive degeneration of hypothalamic neurons accompanied by impaired hypothalamic control of energy balance and adult-onset obesity. Both genders are infertile due to a failure of germ cells to progress through meiosis I and hypogonadism.

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All GO Annotations

21
GO References

5

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	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

2
Tissues

1
cDNA Data

19
Literature Summary

5

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ubb

ZFIN ubb

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Ubb interacts with 64 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

41
RefSeq

4
UniProt

3
CCDS

CCDS24826.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000005857	VEGA Gene Model \| MGI Sequence Detail	2043	C57BL/6J	± kb
transcript	OTTMUST00000013034	VEGA \| MGI Sequence Detail	1499	Not Applicable
polypeptide	OTTMUSP00000006062	VEGA \| MGI Sequence Detail	305	Not Applicable

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SNPs within 2kb

26 from dbSNP Build 142

RFLP

2

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UniProt

3 Sequences
InterPro Domains

IPR019956 Ubiquitin

IPR019954 Ubiquitin conserved site

IPR000626 Ubiquitin domain

IPR029071 Ubiquitin-related domain

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All nucleic 22

cDNA 21

Primer pair 1

Microarray probesets 5

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MGD-MRK-15326, MGD-MRK-33606, MGI:2141542

Summaries

All 60

Developmental Gene Expression 5

Gene Ontology 5

Phenotypes 27
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:240526 Hall EA, et al., PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. Am J Hum Genet. 2017 Apr 10;

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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