Mcoln2 MGI Mouse Gene Detail - MGI:1915529

Symbol

Mcoln2
Name

mucolipin 2
Synonyms

3300002C04Rik, mucolipidin 2, TRPML2

Feature Type

protein coding gene
IDs

MGI:1915529
NCBI Gene: 68279
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr3:145855588-145901268 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 71.03 cM
Mapping Data

3 experiments

SNPs within 2kb

1712 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915529	protein coding gene	Chr3:145855552-145901269 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027968	protein coding gene	Chr3:149627500-149677533 (+)
A/J	MGP_AJ_G0027927	protein coding gene	Chr3:144282547-144328517 (+)
AKR/J	MGP_AKRJ_G0027893	protein coding gene	Chr3:148124791-148174205 (+)
BALB/cJ	MGP_BALBcJ_G0027939	protein coding gene	Chr3:144094094-144143934 (+)
C3H/HeJ	MGP_C3HHeJ_G0027669	protein coding gene	Chr3:148484882-148534326 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028382	protein coding gene	Chr3:154655723-154702621 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025720	protein coding gene	Chr3:139353883-139396964 (+)
CAST/EiJ	MGP_CASTEiJ_G0027122	protein coding gene	Chr3:148464958-148516566 (+)
CBA/J	MGP_CBAJ_G0027644	protein coding gene	Chr3:160138297-160198901 (+)
DBA/2J	MGP_DBA2J_G0027784	protein coding gene	Chr3:143430397-143477140 (+)
FVB/NJ	MGP_FVBNJ_G0027751	protein coding gene	Chr3:140837554-140886936 (+)
LP/J	MGP_LPJ_G0027895	protein coding gene	Chr3:151009102-151063503 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027784	protein coding gene	Chr3:168429047-168480714 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028441	protein coding gene	Chr3:147709785-147759343 (+)
PWK/PhJ	MGP_PWKPhJ_G0026845	protein coding gene	Chr3:143272704-143320108 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026673	protein coding gene	Chr3:145886452-145931950 (+)
WSB/EiJ	MGP_WSBEiJ_G0027202	protein coding gene	Chr3:148675618-148726962 (+)

Human Ortholog

MCOLN2, mucolipin TRP cation channel 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MCOLN2, mucolipin TRP cation channel 2
Synonyms

TRP-ML2, TRPML2
Links

HGNC:13357

NCBI Gene ID: 255231

neXtProt AC: NX_Q8IZK6

UniProt: Q8IZK6
Chr Location

1p22.3; chr1:84925583-84997113 (-) GRCh38

MGI Vertebrate Homology

Mcoln2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MCOLN2
Gene Tree

Mcoln2

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References

1 with disease annotations

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
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
Endonuclease-mediated

3
Radiation induced

1
Targeted

3
Genomic Mutations

1 involving Mcoln2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

36 strains or lines available

Mice homozygous for a knock-out allele exhibit reduced chemokine production in bone marrow-derived macrophages and impaired recruitment of peripheral macrophages in response to i.p. injections of LPS or live bacteria.

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All GO Annotations

24
GO References

6

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	membraneless 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

713
Tissues

4
cDNA Data

27
Literature Summary

3

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mcoln2

ZFIN mcoln2

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All Sequences

58
RefSeq

10
UniProt

3
CCDS

CCDS38663.1, CCDS38664.1

Ensembl

ENSMUSG00000011008 (Evidence)
NCBI Gene

68279

			Length	Strain/Species	Flank
genomic	ENSMUSG00000011008	Ensembl Gene Model \| MGI Sequence Detail	45681	C57BL/6J	± kb
transcript	ENSMUST00000011152	Ensembl \| MGI Sequence Detail	2520	Not Applicable
polypeptide	ENSMUSP00000011152	Ensembl \| MGI Sequence Detail	566	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000010253 mucolipin-2

(term hierarchy)
PDB

7DYS
InterPro Domains

IPR039031 Mucolipin

IPR049134 Mucolipin, extracytosolic domain

IPR013122 Polycystin cation channel, PKD1/PKD2

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All nucleic 28

cDNA 27

Primer pair 1

Microarray probesets 3

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MGI:2139754, MGI:2140099

Summaries

All 37

Developmental Gene Expression 3

Diseases 1

Gene Ontology 6

Phenotypes 9
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:302829 Lu J, et al., Mouse models for human hyperuricaemia: a critical review. Nat Rev Rheumatol. 2019 Jul;15(7):413-426

TSS for Mcoln2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr32333	Chr3:145855577-145855584 (+)	-7 bp
Tssr32334	Chr3:145855584-145855598 (+)	3 bp
Tssr32335	Chr3:145855613-145855623 (+)	30 bp
Tssr32336	Chr3:145855983-145856004 (+)	406 bp
Tssr32337	Chr3:145856011-145856040 (+)	438 bp
Tssr32338	Chr3:145888719-145888732 (+)	33,138 bp
Tssr32339	Chr3:145888736-145888759 (+)	33,160 bp
Tssr32340	Chr3:145892038-145892045 (+)	36,454 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)
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