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

    Gene ID: 57611, updated on 27-Nov-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 active in cell surface. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 4.7), testis (RPKM 3.0) and 5 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74100318..74141826)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71966233..72007742)
    RS_2024_09 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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

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