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

Gene ID: 57611, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:29286
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
Summary
Predicted to be involved in positive regulation of axon extension. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
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

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See ISLR2 in Genome Data Viewer
Location:
15q24.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74100318..74141826)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71966233..72007742)
105.20220307 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 H3K27ac hESC enhancer GRCh37_chr15:74383297-74384097 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74386258-74386774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74389067-74389658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9741 Neighboring gene COMM domain containing 4 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74403072-74403264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74414944-74415550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74422233-74423142 Neighboring gene uncharacterized LOC283731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74423143-74424051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74428171-74428862 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:74432814-74433345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9743 Neighboring gene uncharacterized LOC124903523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74464796-74465784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74465785-74466772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74466773-74467761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74468869-74469385 Neighboring gene immunoglobulin superfamily containing leucine rich repeat

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension. Alazami AM, et al. Hum Genet, 2019 Jan. PMID 30483960
  2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Apr 28. PMID 10819331
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  4. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Kim JJ, et al. Genes Dev, 2019 Dec 1. PMID 31753913, Free PMC Article
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. Emdal KB, et al. Sci Signal, 2015 Apr 28. PMID 25921289

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deletion in ISLR2 gene is associated with autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.
    Title: A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 nervous system development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of axon extension IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
located_in cell surface ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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_001130136.1 → NP_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
    A8K352, Q6UXK2, Q9P263
    Related
    ENSP00000355402.3, ENST00000361742.7
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  2. NM_001130137.1 → NP_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
    A8K352, Q6UXK2, Q9P263
    Related
    ENSP00000455531.1, ENST00000565159.5
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  3. NM_001130138.2 → NP_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
    A8K352, Q6UXK2, Q9P263
    Related
    ENSP00000411443.1, ENST00000435464.5
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  4. NM_020851.3 → NP_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
    A8K352, Q6UXK2, Q9P263
    Related
    ENSP00000411834.2, ENST00000453268.3
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    74100318..74141826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  2. XM_024450004.2 → XP_024305772.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  3. XM_011521841.2 → XP_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
    A8K352, Q6UXK2, Q9P263
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  4. XM_024450006.2 → XP_024305774.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  5. XM_011521840.4 → XP_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
    A8K352, Q6UXK2, Q9P263
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  6. XM_047432905.1 → XP_047288861.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

  7. XM_017022446.3 → XP_016877935.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X2

    Conserved Domains (5) summary
    smart00082
    Location:181 → 229
    LRRCT; Leucine rich repeat C-terminal domain
    cd00116
    Location:42 → 182
    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:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13895
    Location:241 → 372
    Ig_2; Immunoglobulin domain

  8. XM_024450007.2 → XP_024305775.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  9. XM_024450008.2 → XP_024305776.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

  10. XM_024450005.2 → XP_024305773.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263
    Conserved Domains (5) summary
    TIGR00864
    Location:154 → 228
    PCC; polycystin cation channel protein
    sd00033
    Location:36 → 52
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:52 → 109
    LRR_8; Leucine rich repeat
    pfam13927
    Location:232 → 359
    Ig_3; Immunoglobulin domain
    cd00096
    Location:256 → 263
    Ig; Ig strand B [structural motif]

RNA

  1. XR_931875.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    71966233..72007742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378535.1 → XP_054234510.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

  2. XM_054378537.1 → XP_054234512.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

  3. XM_054378532.1 → XP_054234507.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

  4. XM_054378533.1 → XP_054234508.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

  5. XM_054378531.1 → XP_054234506.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

  6. XM_054378536.1 → XP_054234511.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

  7. XM_054378540.1 → XP_054234515.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X2

  8. XM_054378539.1 → XP_054234514.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

  9. XM_054378538.1 → XP_054234513.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

  10. XM_054378534.1 → XP_054234509.1  immunoglobulin superfamily containing leucine-rich repeat protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A8K352, Q6UXK2, Q9P263

RNA

  1. XR_008489000.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UXK2.1 GenPept UniProtKB/Swiss-Prot:Q6UXK2

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