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    SIPA1L2 signal induced proliferation associated 1 like 2 [ Homo sapiens (human) ]

    Gene ID: 57568, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SIPA1L2provided by HGNC
    Official Full Name
    signal induced proliferation associated 1 like 2provided by HGNC
    Primary source
    HGNC:HGNC:23800
    See related
    Ensembl:ENSG00000116991 MIM:611609; AllianceGenome:HGNC:23800
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPAL2; SPAR2
    Summary
    This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in heart (RPKM 11.7), placenta (RPKM 10.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q42.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (232397965..232630496, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (231783662..232016327, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (232533711..232766242, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373196 Neighboring gene uncharacterized LOC105373198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:232515217-232515718 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5949 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5966 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5991 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6018 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6114 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6136 Neighboring gene NANOG hESC enhancer GRCh37_chr1:232603849-232604410 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6156 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:232614076-232614278 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:232684300-232684923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:232686883-232687411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:232687412-232687939 Neighboring gene Sharpr-MPRA regulatory region 1023 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:232691629-232692200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:232726700-232727200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1958 Neighboring gene uncharacterized LOC124904551 Neighboring gene RNA, U6 small nuclear 1211, pseudogene

    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. An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort. Geng X, et al. J Lipid Res, 2018 Apr. PMID 29463568, Free PMC Article
    2. Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Tao F, et al. Ann Neurol, 2019 Mar. PMID 30706531, Free PMC Article
    3. SPAR2, a novel SPAR-related protein with GAP activity for Rap1 and Rap2. Spilker C, et al. J Neurochem, 2008 Jan. PMID 17961154
    4. RapGAPs in brain: multipurpose players in neuronal Rap signalling. Spilker C, et al. Eur J Neurosci, 2010 Jul. PMID 20576033
    5. Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population. Yang X, et al. Neurosci Lett, 2017 May 22. PMID 28380328

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions.
      Title: Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
    2. Our results suggest that rs329648 is associated with risk of developing PD in the Han Chinese population. Our findings should be verified in further studies, and they highlight the need for functional studies of MIR4697.
      Title: Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson's disease in a Han Chinese population.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.
    EBI GWAS Catalog
    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
    EBI GWAS Catalog
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog

    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

    • FLJ23126, FLJ23632, KIAA1389

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    signal-induced proliferation-associated 1-like protein 2
    Names
    SIPA1-like protein 2
    SPA-1-like 2
    spine-associated RapGAP 2

    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_001377488.1 → NP_001364417.1  signal-induced proliferation-associated 1-like protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL157409, AL355274, AL356965
      Consensus CDS
      CCDS91174.1
      UniProtKB/TrEMBL
      A0A6Q8PFQ0, A0A6Q8PH54
      Related
      ENSP00000501553.1, ENST00000675685.1
      Conserved Domains (3) summary
      cd00992
      Location:950 → 1020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625 → 805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:1423 → 1648
      SPAR_C; C-terminal domain of SPAR protein

    2. NM_020808.5 → NP_065859.3  signal-induced proliferation-associated 1-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_065859.3

      Status: REVIEWED

      Source sequence(s)
      AL157409, AL355274, AL356965
      Consensus CDS
      CCDS41474.1
      UniProtKB/Swiss-Prot
      Q2TV88, Q5VXR7, Q5VXR8, Q641Q4, Q8NA38, Q96DZ3, Q9H9F6, Q9P2F8
      UniProtKB/TrEMBL
      A0A6Q8PFQ0
      Related
      ENSP00000502693.1, ENST00000674635.1
      Conserved Domains (3) summary
      cd00992
      Location:950 → 1020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625 → 805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:1423 → 1666
      SPAR_C; C-terminal domain of SPAR protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      232397965..232630496 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001896.2 → XP_016857385.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q2TV88, Q5VXR7, Q5VXR8, Q641Q4, Q8NA38, Q96DZ3, Q9H9F6, Q9P2F8
      UniProtKB/TrEMBL
      A0A6Q8PFQ0
      Related
      ENSP00000501897.1, ENST00000676213.1
      Conserved Domains (3) summary
      cd00992
      Location:950 → 1020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625 → 805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:1423 → 1666
      SPAR_C; C-terminal domain of SPAR protein

    2. XM_047426142.1 → XP_047282098.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q2TV88, Q5VXR7, Q5VXR8, Q641Q4, Q8NA38, Q96DZ3, Q9H9F6, Q9P2F8

    3. XM_005273213.5 → XP_005273270.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005273270.1

      UniProtKB/Swiss-Prot
      Q2TV88, Q5VXR7, Q5VXR8, Q641Q4, Q8NA38, Q96DZ3, Q9H9F6, Q9P2F8
      UniProtKB/TrEMBL
      A0A6Q8PFQ0
      Related
      ENSP00000355589.1, ENST00000366630.5
      Conserved Domains (3) summary
      cd00992
      Location:950 → 1020
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:625 → 805
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:1423 → 1666
      SPAR_C; C-terminal domain of SPAR protein

    4. XM_047426141.1 → XP_047282097.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q2TV88, Q5VXR7, Q5VXR8, Q641Q4, Q8NA38, Q96DZ3, Q9H9F6, Q9P2F8

    5. XM_047426144.1 → XP_047282100.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q2TV88, Q5VXR7, Q5VXR8, Q641Q4, Q8NA38, Q96DZ3, Q9H9F6, Q9P2F8

    6. XM_047426140.1 → XP_047282096.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q2TV88, Q5VXR7, Q5VXR8, Q641Q4, Q8NA38, Q96DZ3, Q9H9F6, Q9P2F8

    7. XM_047426143.1 → XP_047282099.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q2TV88, Q5VXR7, Q5VXR8, Q641Q4, Q8NA38, Q96DZ3, Q9H9F6, Q9P2F8

    8. XM_047426139.1 → XP_047282095.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q2TV88, Q5VXR7, Q5VXR8, Q641Q4, Q8NA38, Q96DZ3, Q9H9F6, Q9P2F8

    9. XM_047426145.1 → XP_047282101.1  signal-induced proliferation-associated 1-like protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PH54
      Related
      ENSP00000502580.1, ENST00000675407.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      231783662..232016327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337834.1 → XP_054193809.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    2. XM_054337833.1 → XP_054193808.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    3. XM_054337836.1 → XP_054193811.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    4. XM_054337832.1 → XP_054193807.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    5. XM_054337835.1 → XP_054193810.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    6. XM_054337831.1 → XP_054193806.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    7. XM_054337837.1 → XP_054193812.1  signal-induced proliferation-associated 1-like protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2F8.2 GenPept UniProtKB/Swiss-Prot:Q9P2F8

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