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  2. SNRPD2 - small nuclear ribonucleoprotein D2 polypeptide Gene

SNRPD2 - small nuclear ribonucleoprotein D2 polypeptide Gene

Homo sapiens

Also known as SMD2; Sm-D2; SNRPD1

Gene ID: 6633 | Gene type: protein coding

About SNRPD2

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,687,454-45,692,316 (from NCBI)

This gene has 8 transcripts (splice variants) and 263 orthologues. Ubiquitous expression in ovary (RPKM 85.9), lymph node (RPKM 73.9) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

SNRPD2 Products(5)

mRNA Protein Name
NM_001369751.1 NP_001356680.1 small nuclear ribonucleoprotein Sm D2 isoform 2
NM_001369752.1 NP_001356681.1 small nuclear ribonucleoprotein Sm D2 isoform 3
NM_001384647.1 NP_001371576.1 small nuclear ribonucleoprotein Sm D2 isoform 1
NM_004597.6 NP_004588.1 small nuclear ribonucleoprotein Sm D2 isoform 1
NM_177542.3 NP_808210.2 small nuclear ribonucleoprotein Sm D2 isoform 2

SNRPD2 Protein Structure

LSM

LSM: LSM domain (37 - 109)

  • 0
  • 100
  • 118 a.a.
Protein Preferred Names Protein Names

small nuclear ribonucleoprotein Sm D2

small nuclear ribonucleoprotein D2 polypeptide 16.5kDa

Related Diseases

Diseases Alias
Noonan Syndrome 2

NS2

Noonan Syndrome, Autosomal Recessive

Noonan Syndrome 2, Autosomal Recessive

Noonan Syndrome, Type 2

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]

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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
Bos taurus SNRPD2 VGNC VGNC:35079
Mus musculus SNRPD2 MGD MGI:98345
Canis familiaris SNRPD2 VGNC VGNC:53987
Rattus norvegicus SNRPD2 RGD RGD:1593018