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    ISM2 isthmin 2 [ Homo sapiens (human) ]

    Gene ID: 145501, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ISM2provided by HGNC
    Official Full Name
    isthmin 2provided by HGNC
    Primary source
    HGNC:HGNC:23176
    See related
    Ensembl:ENSG00000100593 MIM:612684; AllianceGenome:HGNC:23176
    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
    TAIL1; THSD3
    Summary
    The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009]
    Expression
    Restricted expression toward placenta (RPKM 113.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See ISM2 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77474394..77498816, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71683769..71708201, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77940737..77965159, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77923742-77924264 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77924265-77924787 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36801 Neighboring gene activator of HSP90 ATPase activity 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77950905-77951405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77957001-77957502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77957503-77958002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8803 Neighboring gene serine palmitoyltransferase long chain base subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:78008897-78009398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8805 Neighboring gene RNA, 7SL, cytoplasmic 587, pseudogene Neighboring gene MPRA-validated peak2208 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:78072555-78073054 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:78073869-78074370 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:78074371-78074870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8808 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:78082775-78083307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8809 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 11

    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. TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and AMOP domain, mapped to ARVD1 critical region. Rossi V, et al. Gene, 2004 Jun 23. PMID 15194193
    2. The modular architecture of a new family of growth regulators related to connective tissue growth factor. Bork P. FEBS Lett, 1993 Jul 26. PMID 7687569
    3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
    4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • FLJ32147, MGC119416, DKFZp686E0215

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    isthmin-2
    Names
    isthmin 2 homolog
    thrombospondin and AMOP containing isthmin-like 1
    thrombospondin and AMOP domain-containing isthmin-like protein 1
    thrombospondin type-1 domain-containing protein 3
    thrombospondin, type I, domain containing 3

    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_182509.4 → NP_872315.2  isthmin-2 isoform 3 precursor

      See identical proteins and their annotated locations for NP_872315.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. The resulting isoform (3) thus lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AJ583024, BC033140, BX248277, DB025298
      Consensus CDS
      CCDS45143.1
      UniProtKB/Swiss-Prot
      Q6H9L7
      Related
      ENSP00000420452.1, ENST00000493585.5
      Conserved Domains (1) summary
      PHA03247
      Location:28 → 267
      PHA03247; large tegument protein UL36; Provisional

    2. NM_199296.3 → NP_954993.1  isthmin-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_954993.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AJ583024, BC033140, BX248277, DB025298
      Consensus CDS
      CCDS9864.1
      UniProtKB/Swiss-Prot
      A8K6D5, O95432, Q495U5, Q68CN3, Q6H9L7, Q86TQ7, Q86TW3, Q86TW4, Q8N501, Q8NBL0
      UniProtKB/TrEMBL
      B4DTH0
      Related
      ENSP00000341490.4, ENST00000342219.9
      Conserved Domains (2) summary
      smart00723
      Location:396 → 559
      AMOP; Adhesion-associated domain present in MUC4 and other proteins
      smart00209
      Location:331 → 371
      TSP1; Thrombospondin type 1 repeats

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      77474394..77498816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      71683769..71708201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199265.2: Suppressed sequence

      Description
      NM_199265.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6H9L7.1 GenPept UniProtKB/Swiss-Prot:Q6H9L7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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