Unc80 MGI Mouse Gene Detail - MGI:2652882

Symbol

Unc80
Name

unc-80, NALCN activator
Synonyms

C030018G13Rik, C230061B10Rik

Feature Type

protein coding gene
IDs

MGI:2652882
NCBI Gene: 329178
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr1:66507526-66738307 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 33.56 cM
Mapping Data

2 experiments

SNPs within 2kb

2316 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2652882	protein coding gene	Chr1:66507093-66738309 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016113	protein coding gene	Chr1:66736035-66961792 (+)
A/J	MGP_AJ_G0016096	protein coding gene	Chr1:64375958-64591481 (+)
AKR/J	MGP_AKRJ_G0016053	protein coding gene	Chr1:66197034-66436327 (+)
BALB/cJ	MGP_BALBcJ_G0016051	protein coding gene	Chr1:64436268-64665835 (+)
C3H/HeJ	MGP_C3HHeJ_G0015882	protein coding gene	Chr1:66447407-66687847 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016504	protein coding gene	Chr1:69291928-69545455 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014225	protein coding gene	Chr1:60328407-60527488 (+)
CAST/EiJ	MGP_CASTEiJ_G0015466	protein coding gene	Chr1:65694686-65921970 (+)
CBA/J	MGP_CBAJ_G0015855	protein coding gene	Chr1:71533732-71787281 (+)
DBA/2J	MGP_DBA2J_G0015956	protein coding gene	Chr1:63759997-63982096 (+)
FVB/NJ	MGP_FVBNJ_G0015959	protein coding gene	Chr1:63015768-63234764 (+)
LP/J	MGP_LPJ_G0016028	protein coding gene	Chr1:67671368-67903385 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015979	protein coding gene	Chr1:74507682-74759756 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016551	protein coding gene	Chr1:66148904-66387448 (+)
PWK/PhJ	MGP_PWKPhJ_G0015253	protein coding gene	Chr1:63151168-63375721 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015032	protein coding gene	Chr1:65621890-65851272 (+)
WSB/EiJ	MGP_WSBEiJ_G0015528	protein coding gene	Chr1:65887200-66115381 (+)

Human Ortholog

UNC80, unc-80 homolog, NALCN channel complex subunit

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

UNC80, unc-80 homolog, NALCN channel complex subunit
Synonyms

C2orf21, UNC-80
Links

HGNC:26582

NCBI Gene ID: 285175

neXtProt AC: NX_Q8N2C7

UniProt: Q8N2C7
Chr Location

2q34; chr2:209771832-209999300 (+) GRCh38

MGI Vertebrate Homology

Unc80 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: UNC80
Gene Tree

Unc80

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Phenotype Summary

10 phenotypes from 3 alleles in 3 genetic backgrounds
9 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

7
Chemically induced (other)

1
Endonuclease-mediated

3
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Unc80
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

184 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele die within 24 hours of birth, exhibit severe apnea and hippocampal neurons show decreased NALCN-dependent sodium leak current.

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All GO Annotations

12
GO References

8

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 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

9

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase unc80

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All Sequences

98
RefSeq

52
UniProt

4
CCDS

CCDS48283.1

Ensembl

ENSMUSG00000055567 (Evidence)
NCBI Gene

329178

			Length	Strain/Species	Flank
genomic	ENSMUSG00000055567	Ensembl Gene Model \| MGI Sequence Detail	230782	C57BL/6J	± kb
transcript	ENSMUST00000061620	Ensembl \| MGI Sequence Detail	13613	Not Applicable
polypeptide	ENSMUSP00000053692	Ensembl \| MGI Sequence Detail	3326	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000017098 protein unc-80

(term hierarchy)
PDB

7W7G
InterPro Domains

IPR031542 Cation channel complex component UNC80, N-terminal

IPR045852 Protein UNC80, central region

IPR046460 Protein UNC80, C-terminal

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All nucleic 9

cDNA 9

Microarray probesets 3

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MGI:1925858, MGI:2445028

Summaries

All 35

Gene Ontology 8

Phenotypes 9
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:291847 Wie J, et al., Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. Nat Commun. 2020 Jul 3;11(1):3351

TSS for Unc80:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7164	Chr1:66507071-66507153 (+)	-414 bp
Tssr7165	Chr1:66507384-66507423 (+)	-122 bp
Tssr7166	Chr1:66507448-66507461 (+)	-71 bp
Tssr7167	Chr1:66507523-66507594 (+)	33 bp
Tssr7168	Chr1:66511218-66511239 (+)	3,703 bp
Tssr7169	Chr1:66735853-66735874 (+)	228,338 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 04/09/2024 MGI 6.23