Pkd2l2 MGI Mouse Gene Detail - MGI:1858231 - polycystic kidney disease 2-like 2

Symbol

Pkd2l2
Name

polycystic kidney disease 2-like 2
Synonyms

Polycystin - L2, TRPP5

Feature Type

protein coding gene
IDs

MGI:1858231
NCBI Gene: 53871
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr18:34541553-34575842 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 18.62 cM, cytoband C
Mapping Data

2 experiments

SNPs within 2kb

986 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1858231	protein coding gene	Chr18:34541542-34577169 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024239	protein coding gene	Chr18:32615399-32648889 (+)
A/J	MGP_AJ_G0024205	protein coding gene	Chr18:31517749-31554359 (+)
AKR/J	MGP_AKRJ_G0024174	protein coding gene	Chr18:32414700-32449211 (+)
BALB/cJ	MGP_BALBcJ_G0024205	protein coding gene	Chr18:31581979-31615491 (+)
C3H/HeJ	MGP_C3HHeJ_G0023973	protein coding gene	Chr18:32432839-32466465 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024647	protein coding gene	Chr18:33853311-33888011 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022088	protein coding gene	Chr18:31662544-31695458 (+)
CAST/EiJ	MGP_CASTEiJ_G0023448	protein coding gene	Chr18:32372747-32406072 (+)
CBA/J	MGP_CBAJ_G0023941	protein coding gene	Chr18:34798957-34833905 (+)
DBA/2J	MGP_DBA2J_G0024073	protein coding gene	Chr18:31181462-31214604 (+)
FVB/NJ	MGP_FVBNJ_G0024039	protein coding gene	Chr18:30864906-30898700 (+)
LP/J	MGP_LPJ_G0024154	protein coding gene	Chr18:32703053-32736948 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024067	protein coding gene	Chr18:36078232-36111486 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024695	protein coding gene	Chr18:32239667-32276039 (+)
PWK/PhJ	MGP_PWKPhJ_G0023191	protein coding gene	Chr18:31363676-31398538 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023000	protein coding gene	Chr18:32504693-32536959 (+)
WSB/EiJ	MGP_WSBEiJ_G0023511	protein coding gene	Chr18:32163084-32196869 (+)

Human Ortholog

PKD2L2, polycystin 2 like 2, transient receptor potential cation channel

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PKD2L2, polycystin 2 like 2, transient receptor potential cation channel
Synonyms

TRPP5
Links

HGNC:9012

NCBI Gene ID: 27039

neXtProt AC: NX_Q9NZM6

UniProt: Q9NZM6
Chr Location

5q31.2; chr5:137887968-137942747 (+) GRCh38

MGI Vertebrate Homology

Pkd2l2 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: PKD2L2
Gene Tree

Pkd2l2

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Phenotype Summary

8 phenotypes from 2 alleles in 2 genetic backgrounds
14 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

8
Endonuclease-mediated

1
Gene trapped

1
Targeted

5
Transgenic

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

46 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a targeted gene disruption display hyperactivity.

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All GO Annotations

6
GO References

4

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

820
Tissues

56
cDNA Data

37
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

67
RefSeq

28
UniProt

4
CCDS

CCDS29127.1

Ensembl

ENSMUSG00000014503 (Evidence)
NCBI Gene

53871

			Length	Strain/Species	Flank
genomic	53871	NCBI Gene Model \| MGI Sequence Detail	34290	C57BL/6J	± kb
transcript	NM_016927	RefSeq \| MGI Sequence Detail	2461	C57BL/6
polypeptide	Q9JLG4	UniProt \| EBI \| MGI Sequence Detail	621	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000012775 polycystin-2-like protein 2

(term hierarchy)
InterPro Domains

IPR003915 Polycystic kidney disease type 2 protein

IPR051223 Polycystin

IPR013122 Polycystin cation channel, PKD1/PKD2

IPR046791 Polycystin domain
GlyGen

Q9JLG4 2 sites

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All nucleic 43

Genomic 1

cDNA 38

Primer pair 4

Microarray probesets 3

Summaries

All 39

Developmental Gene Expression 5

Gene Ontology 4

Phenotypes 14
Earliest

J:61533 Guo L, et al., Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization. Genomics. 2000 Mar 15;64(3):241-51
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pkd2l2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr150459	Chr18:34541538-34541547 (+)	-10 bp
Tssr150460	Chr18:34541559-34541564 (+)	9 bp
Tssr150461	Chr18:34542416-34542424 (+)	867 bp
Tssr5274	Chr18:34542450-34542460 (+)	902 bp
Tssr150462	Chr18:34542468-34542511 (+)	937 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 12/10/2024 MGI 6.24