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ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 [ Homo sapiens (human) ]

Gene ID: 57611, updated on 23-Nov-2021

Summary

Official Symbol
ISLR2provided by HGNC
Official Full Name
immunoglobulin superfamily containing leucine rich repeat 2provided by HGNC
Primary source
HGNC:HGNC:29286
See related
Ensembl:ENSG00000167178 MIM:614179
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
LINX
Expression
Biased expression in brain (RPKM 4.7), testis (RPKM 3.0) and 5 other tissues See more
Orthologs
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Genomic context

See ISLR2 in Genome Data Viewer
Location:
15q24.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (74100314..74141826)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74421715..74429143)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987224 Neighboring gene COMM domain containing 4 pseudogene 2 Neighboring gene uncharacterized LOC283731 Neighboring gene immunoglobulin superfamily containing leucine rich repeat Neighboring gene signaling receptor and transporter of retinol STRA6

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

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1465

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in positive regulation of axon extension IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of axon extension ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
immunoglobulin superfamily containing leucine-rich repeat protein 2
Names
leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein

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)

  1. NM_001130136.1NP_001123608.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 precursor

    See identical proteins and their annotated locations for NP_001123608.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All four transcripts encode the same protein.
    Source sequence(s)
    BC152429
    Consensus CDS
    CCDS10259.1
    UniProtKB/Swiss-Prot
    Q6UXK2
    Related
    ENSP00000355402.3, ENST00000361742.7
    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  2. NM_001130137.1NP_001123609.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 precursor

    See identical proteins and their annotated locations for NP_001123609.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four transcripts encode the same protein.
    Source sequence(s)
    BC152429, BI917487
    Consensus CDS
    CCDS10259.1
    UniProtKB/Swiss-Prot
    Q6UXK2
    Related
    ENSP00000455531.1, ENST00000565159.5
    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  3. NM_001130138.2NP_001123610.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 precursor

    See identical proteins and their annotated locations for NP_001123610.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four transcripts encode the same protein.
    Source sequence(s)
    BC152429, DA791954
    Consensus CDS
    CCDS10259.1
    UniProtKB/Swiss-Prot
    Q6UXK2
    Related
    ENSP00000411443.1, ENST00000435464.5
    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  4. NM_020851.3NP_065902.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 precursor

    See identical proteins and their annotated locations for NP_065902.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four transcripts encode the same protein.
    Source sequence(s)
    BC152429, DA911394
    Consensus CDS
    CCDS10259.1
    UniProtKB/Swiss-Prot
    Q6UXK2
    Related
    ENSP00000411834.2, ENST00000453268.3
    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    74100314..74141826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450003.1XP_024305771.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  2. XM_024450004.1XP_024305772.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  3. XM_011521841.1XP_011520143.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011520143.1

    UniProtKB/Swiss-Prot
    Q6UXK2
    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  4. XM_024450006.1XP_024305774.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  5. XM_011521840.3XP_011520142.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011520142.1

    UniProtKB/Swiss-Prot
    Q6UXK2
    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  6. XM_017022446.2XP_016877935.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X2

    Conserved Domains (5) summary
    smart00082
    Location:181229
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:42182
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13895
    Location:241372
    Ig_2; Immunoglobulin domain
  7. XM_024450008.1XP_024305776.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    Related
    ENSP00000458080.1, ENST00000565540.1
    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  8. XM_024450007.1XP_024305775.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]
  9. XM_024450005.1XP_024305773.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    Conserved Domains (5) summary
    TIGR00864
    Location:154228
    PCC; polycystin cation channel protein
    sd00033
    Location:3652
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256263
    Ig; Ig strand B [structural motif]

RNA

  1. XR_931875.3 RNA Sequence

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