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ISM2 isthmin 2 [ Homo sapiens (human) ]

Gene ID: 145501, updated on 5-Mar-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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Location:
14q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77474394..77498816, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71683769..71708201, complement)
105.20220307 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)

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

  • 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_2023_10

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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