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PKD2L2 polycystin 2 like 2, transient receptor potential cation channel [ Homo sapiens (human) ]

Gene ID: 27039, updated on 1-Jun-2020

Summary

Official Symbol
PKD2L2provided by HGNC
Official Full Name
polycystin 2 like 2, transient receptor potential cation channelprovided by HGNC
Primary source
HGNC:HGNC:9012
See related
Ensembl:ENSG00000078795 MIM:604669
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TRPP5
Expression
Broad expression in testis (RPKM 6.7), endometrium (RPKM 3.3) and 24 other tissues See more
Orthologs

Genomic context

See PKD2L2 in Genome Data Viewer
Location:
5q31.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (137889411..137942747)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137225125..137276156)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986368 Neighboring gene uncharacterized LOC101928005 Neighboring gene myotilin Neighboring gene family with sequence similarity 13 member B Neighboring gene uncharacterized LOC100130172 Neighboring gene RNA, U6 small nuclear 1148, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
detection of mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
polycystic kidney disease 2-like 2 protein
Names
polycystin-2L2
polycystin-L2
transient receptor potential cation channel subfamily P member 5

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001258448.2NP_001245377.1  polycystic kidney disease 2-like 2 protein isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate in-frame splice site in the central coding region and an additional exon in the 3' region, which results in an alternate translation stop codon, compared to variant 1. The resulting isoform (2) is shorter; it lacks an internal segment and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC106753, AC106791, AK301924, BG719682
    Consensus CDS
    CCDS58972.1
    UniProtKB/Swiss-Prot
    Q9NZM6
    Related
    ENSP00000425513.1, ENST00000502810.5
    Conserved Domains (1) summary
    cl27887
    Location:76475
    PKD_channel; Polycystin cation channel
  2. NM_001258449.2NP_001245378.1  polycystic kidney disease 2-like 2 protein isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, contains an alternate segment in the 3' region, which results in an alternate translation stop codon, compared to variant 1. The resulting isoform (3) is shorter; it lacks an internal segment and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC106753, BC044581
    Consensus CDS
    CCDS58971.1
    UniProtKB/Swiss-Prot
    Q9NZM6
    Related
    ENSP00000423382.1, ENST00000508638.5
    Conserved Domains (1) summary
    cl27887
    Location:76382
    PKD_channel; Polycystin cation channel
  3. NM_001300921.2NP_001287850.1  polycystic kidney disease 2-like 2 protein isoform 4

    See identical proteins and their annotated locations for NP_001287850.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (4) is longer and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC106753, AF182034, BG721989
    Consensus CDS
    CCDS78062.1
    UniProtKB/Swiss-Prot
    Q9NZM6
    Related
    ENSP00000424725.1, ENST00000508883.5
    Conserved Domains (1) summary
    cl27887
    Location:76497
    PKD_channel; Polycystin cation channel
  4. NM_014386.4NP_055201.2  polycystic kidney disease 2-like 2 protein isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1 of 602aa.
    Source sequence(s)
    AC106753, AF118125, BG721989
    Consensus CDS
    CCDS43367.1
    UniProtKB/Swiss-Prot
    Q9NZM6
    Related
    ENSP00000290431.5, ENST00000290431.5
    Conserved Domains (2) summary
    pfam08016
    Location:76497
    PKD_channel; Polycystin cation channel
    pfam09805
    Location:513593
    Nop25; Nucleolar protein 12 (25kDa)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    137889411..137942747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446028.1XP_024301796.1  polycystic kidney disease 2-like 2 protein isoform X8

    Conserved Domains (1) summary
    cl27887
    Location:16437
    PKD_channel; Polycystin cation channel
  2. XM_017009345.2XP_016864834.1  polycystic kidney disease 2-like 2 protein isoform X6

  3. XM_011543318.3XP_011541620.1  polycystic kidney disease 2-like 2 protein isoform X4

    UniProtKB/Swiss-Prot
    Q9NZM6
    Conserved Domains (2) summary
    pfam08016
    Location:42463
    PKD_channel; Polycystin cation channel
    pfam09805
    Location:479559
    Nop25; Nucleolar protein 12 (25kDa)
  4. XM_011543321.2XP_011541623.1  polycystic kidney disease 2-like 2 protein isoform X5

    Conserved Domains (2) summary
    pfam08016
    Location:16437
    PKD_channel; Polycystin cation channel
    pfam09805
    Location:453533
    Nop25; Nucleolar protein 12 (25kDa)
  5. XM_017009343.2XP_016864832.1  polycystic kidney disease 2-like 2 protein isoform X2

  6. XM_024446025.1XP_024301793.1  polycystic kidney disease 2-like 2 protein isoform X1

    Conserved Domains (1) summary
    cl27887
    Location:76497
    PKD_channel; Polycystin cation channel
  7. XM_024446027.1XP_024301795.1  polycystic kidney disease 2-like 2 protein isoform X7

    Conserved Domains (1) summary
    cl27887
    Location:76382
    PKD_channel; Polycystin cation channel
  8. XM_024446026.1XP_024301794.1  polycystic kidney disease 2-like 2 protein isoform X3

    Conserved Domains (1) summary
    cl27887
    Location:76475
    PKD_channel; Polycystin cation channel
  9. XM_017009344.2XP_016864833.1  polycystic kidney disease 2-like 2 protein isoform X5

    Conserved Domains (2) summary
    pfam08016
    Location:16437
    PKD_channel; Polycystin cation channel
    pfam09805
    Location:453533
    Nop25; Nucleolar protein 12 (25kDa)
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