ISL2 - ISL LIM homeobox 2 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 64843

About ISL2

Cytogenetic location: 15q24.3 Genomic coordinates (GRCh38): 15:76,336,773-76,342,475 (from NCBI)

This gene has 3 transcripts (splice variants), 257 orthologues and 1 paralogue. Low expression observed in reference dataset.

Summary

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in axonogenesis; neuron fate specification; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of neuron differentiation and neuron differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ISL2 Products (1)

mRNA Protein Name
NM_145805.3 NP_665804.1 insulin gene enhancer protein ISL-2
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
27820671 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ISL2 Protein Structure

LIM

LIM: LIM domain (27 - 85)

LIM

LIM: LIM domain (89 - 143)

Homeobox

Homeobox: Homeobox domain (193 - 248)

  • 0
  • 100
  • 200
  • 300
  • 359 a.a.
Protein Preferred Names Protein Names

insulin gene enhancer protein ISL-2

  • ISL2 transcription factor, LIM/homeodomain, (islet-2)

関連疾患

Diseases Alias
Amme Complex
  • Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis

  • ATS-MR

  • Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

  • Chromosome Xq22.3 Telomeric Deletion Syndrome

  • Amme Syndrome

  • Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis

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

生物種 Symbol 由来 ID
Felis catus ISL2 VGNC VGNC:62975
Rattus norvegicus ISL2 RGD RGD:621849
Macaca mulatta ISL2 VGNC VGNC:108307
Mus musculus ISL2 MGD MGI:109156
Bos taurus ISL2 VGNC VGNC:30297
Others ISL2 NCBI