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ISM2 isthmin 2 [ Homo sapiens (human) ]

Gene ID: 145501, updated on 11-Jun-2021

Summary

Official Symbol
ISM2provided by HGNC
Official Full Name
isthmin 2provided by HGNC
Primary source
HGNC:HGNC:23176
See related
Ensembl:ENSG00000100593 MIM:612684
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
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Genomic context

See ISM2 in Genome Data Viewer
Location:
14q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (77474394..77498816, complement)
105.20201022 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 activator of HSP90 ATPase activity 1 Neighboring gene serine palmitoyltransferase long chain base subunit 2 Neighboring gene RNA, 7SL, cytoplasmic 587, pseudogene Neighboring gene cytochrome c oxidase subunit 6C pseudogene 11

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_182509.4NP_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:28267
    PHA03247; large tegument protein UL36; Provisional
  2. NM_199296.3NP_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
    Q6H9L7
    Related
    ENSP00000341490.4, ENST00000342219.9
    Conserved Domains (2) summary
    smart00723
    Location:396559
    AMOP; Adhesion-associated domain present in MUC4 and other proteins
    smart00209
    Location:331371
    TSP1; Thrombospondin type 1 repeats

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536489.2XP_011534791.1  isthmin-2 isoform X1

    See identical proteins and their annotated locations for XP_011534791.1

    Conserved Domains (2) summary
    smart00723
    Location:308471
    AMOP; Adhesion-associated domain present in MUC4 and other proteins
    smart00209
    Location:243283
    TSP1; Thrombospondin type 1 repeats

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.
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