Pkd1l2 polycystic kidney disease 1 like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pkd1l2provided by MGI
Official Full Name: polycystic kidney disease 1 like 2provided by MGI
Primary source: MGI:MGI:2664668
See related: Ensembl:ENSMUSG00000034416 AllianceGenome:MGI:2664668
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1700126L06Rik
Summary: Predicted to enable G-protein alpha-subunit binding activity and calcium channel activity. Predicted to be involved in detection of mechanical stimulus. Predicted to be integral component of membrane. Predicted to be active in membrane. Is expressed in brain; brainstem; cochlea; spinal cord; and testis. Orthologous to human PKD1L2 (polycystin 1 like 2 (gene/pseudogene)). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
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Genomic context

Location:: 8 E1; 8 63.45 cM

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (117722089..117809227, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (116995679..117082449, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

genes are mapped to chromosomes and gene structures are characterized; protein structure is predicted and contains strong ion channel signature motifs that suggest their possible function as components of cation channel pores
Title: Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3)

General gene information

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Markers

Pkd1l2 (e-PCR), detects polymorphism
- UniSTS:531220

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G-protein alpha-subunit binding	ISO Inferred from Sequence Orthology more info
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in detection of mechanical stimulus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: polycystin-1-like protein 2

Names: PC1-like 2 protein; polycystic kidney disease protein 1-like 2; polycystin-1L2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_029686.4 → NP_083962.4 polycystin-1-like protein 2 precursor

Status: VALIDATED

Source sequence(s)

AC162858, AY164484

Consensus CDS

CCDS57646.1

UniProtKB/TrEMBL

E9Q4D4, E9QPG2

Related

ENSMUSP00000095977.5, ENSMUST00000098375.6

Conserved Domains (6) summary

cd00037
Location:37 → 153

CLECT; C-type lectin (CTL)/C-type lectin-like (CTLD) domain

cd01752
Location:1390 → 1509

PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...

pfam01825
Location:1280 → 1319

GPS; GPCR proteolysis site, GPS, motif

pfam02010
Location:492 → 864

REJ; REJ domain

pfam02140
Location:168 → 250

Gal_Lectin; Galactose binding lectin domain

pfam08016
Location:1980 → 2402

PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

117722089..117809227 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154370.1 → XP_036010263.1 polycystin-1-like protein 2 isoform X1

UniProtKB/TrEMBL

E9QPG2

Conserved Domains (6) summary

smart00034
Location:28 → 154

CLECT; C-type lectin (CTL) or carbohydrate-recognition domain (CRD)

cd01752
Location:1392 → 1511

PLAT_polycystin; PLAT/LH2 domain of polycystin-1 like proteins. Polycystins are a large family of membrane proteins composed of multiple domains, present in fish, invertebrates, mammals, and humans that are widely expressed in various cell types and whose biological ...

pfam02010
Location:493 → 866

REJ; REJ domain

pfam01825
Location:1282 → 1321

GPS; GPCR proteolysis site, GPS, motif

pfam02140
Location:170 → 252

Gal_Lectin; Galactose binding lectin domain

pfam08016
Location:1987 → 2407

PKD_channel; Polycystin cation channel