1. Gene
  2. ISM2 - isthmin 2 Gene

ISM2 - isthmin 2 Gene

Homo sapiens

Also known as TAIL1; THSD3

Gene ID: 145501 | Gene type: protein coding

About ISM2

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:77,474,394-77,498,816 (from NCBI)

This gene has 8 transcripts (splice variants) and 56 orthologues. Restricted expression toward placenta (RPKM 113.4).

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]

ISM2 Products(2)

mRNA Protein Name
NM_182509.4 NP_872315.2 isthmin-2 isoform 3 precursor
NM_199296.3 NP_954993.1 isthmin-2 isoform 1 precursor

ISM2 Protein Structure

TSP_1

TSP_1: Thrombospondin type 1 domain (331 - 370)

AMOP

AMOP: AMOP domain (400 - 558)

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  • 571 a.a.
Protein Preferred Names Protein Names

isthmin-2

isthmin 2 homolog

Related Diseases

Diseases Alias
Indolent Systemic Mastocytosis

Ism

Placental Site Trophoblastic Tumor

Trophoblastic Tumor Placental Site

Trophoblastic Tumor, Placental Site

Placental Site Trophoblastic Tumour

Placental-Site Gestational Trophoblastic Neoplasm

Placenta Neoplasm

Psst

Deciduoma

Placental Cancer

Primary Malignant Neoplasm Of Placenta

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Arrhythmogenic Right Ventricular Dysplasia 9

ARVD9

Arrhythmogenic Right Ventricular Cardiomyopathy 9

Arvc9

Familial Arrhythmogenic Right Ventricular Dysplasia 9

Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta ISM2 VGNC VGNC:73642
Felis catus ISM2 VGNC VGNC:62977
Mus musculus ISM2 MGD MGI:2685110
Rattus norvegicus ISM2 RGD RGD:1589343
Bos taurus ISM2 VGNC VGNC:55117