Survival of motor neuron 2, centromeric also known as SMN2 is a protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 which in humans is encoded by the SMN2 gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

.

Gene

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene.

Function

The full length protein encoded by this gene localizes to both the cytoplasm

Cytoplasm

The cytoplasm is a small gel-like substance residing between the cell membrane holding all the cell's internal sub-structures , except for the nucleus. All the contents of the cells of prokaryote organisms are contained within the cytoplasm...

 and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1

Survival of motor neuron protein-interacting protein 1

Survival of motor neuron protein-interacting protein 1 is a protein that in humans is encoded by the SIP1 gene.-Interactions:Survival of motor neuron protein-interacting protein 1 has been shown to interact with DDX20 and SMN1.-Further reading:...

 and GEMIN4

GEMIN4

Component of gems 4 is a protein that in humans is encoded by the GEMIN4 gene.-Interactions:GEMIN4 has been shown to interact with DDX20, EIF2C2, LGALS1 and SMN1.-Further reading:...

, and also interacts with several proteins known to be involved in the biogenesis

Biogenesis

Biogenesis is the law that living things come only from other living things, e.g. a spider lays eggs, which develop into spiders. It may also refer to biochemical processes of production in living organisms.-Spontaneous generation:...

 of snRNP

SnRNP

snRNPs , or small nuclear ribonucleoproteins, are RNA-protein complexes that combine with unmodified pre-mRNA and various other proteins to form a spliceosome, a large RNA-protein molecular complex upon which splicing of pre-mRNA occurs...

s, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described.

Further reading