2. Gene
  3. GEMIN8 - gem nuclear organelle associated protein 8 Gene

GEMIN8 - gem nuclear organelle associated protein 8 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as FAM51A1

Gene ID: 54960 | Gene type: protein coding

About GEMIN8

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:13,984,185-14,029,892 (from NCBI)

This gene has 6 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in ovary (RPKM 3.3), thyroid (RPKM 3.3) and 25 other tissues.

Summary

The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GEMIN8 Products(3)

mRNA Protein Name
NM_001042479.2 NP_001035944.1 gem-associated protein 8
NM_001042480.2 NP_001035945.1 gem-associated protein 8
NM_017856.3 NP_060326.1 gem-associated protein 8

GEMIN8 Protein Structure

GEMIN8

GEMIN8: Gemini of Cajal bodies-associated protein 8 (14 - 242)

  • 0
  • 100
  • 200
  • 242 a.a.
Protein Preferred Names Protein Names

gem-associated protein 8

family with sequence similarity 51, member A1

Related Diseases

Diseases Alias
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]
Duodenal Obstruction
Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy
Spinal Muscular Atrophy, Type Iii

SMA3

Juvenile Spinal Muscular Atrophy

Kugelberg-Welander Disease

Sma Iii

Kugelberg-Welander Syndrome

Kws

Muscular Atrophy, Juvenile

Spinal Muscular Atrophy, Mild Childhood And Adolescent Form

Spinal Muscular Atrophy-3

Spinal Muscular Atrophy Type 3

Spinal Muscular Atrophy, Type Iii, Modifier Of

Type Iii Spinal Muscular Atrophy

Sma 3

Proximal Spinal Muscular Atrophy Type 3

Sma Type 3

Sma Type Iii

Sma-Iii

Spinal Muscular Atrophy 3

Spinal Muscular Atrophy Mild Childhood And Adolescent Form

Spinal Muscular Atrophy Type Iii

Wohlfart-Kugelberg-Welander Disease

Atrophy, Muscular, Spinal, Type Iii
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05371 GEMIN8 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus GEMIN8 VGNC VGNC:62517
Rattus norvegicus GEMIN8 RGD RGD:1359160
Canis familiaris GEMIN8 VGNC VGNC:41178
Bos taurus GEMIN8 VGNC VGNC:29321
Mus musculus GEMIN8 MGD MGI:2384300
Macaca mulatta GEMIN8 VGNC VGNC:103819