Human Gene SNRPD2 (ENST00000342669.8_6) from GENCODE V45lift37
Description: Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:32494006). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077). (from UniProt P62316) RefSeq Summary (NM_004597): 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]. Gencode Transcript: ENST00000342669.8_6 Gencode Gene: ENSG00000125743.11_9 Transcript (Including UTRs) Position: hg19 chr19:46,190,718-46,195,211 Size: 4,494 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr19:46,190,811-46,195,146 Size: 4,336 Coding Exon Count: 3
ID:SMD2_HUMAN DESCRIPTION: RecName: Full=Small nuclear ribonucleoprotein Sm D2; Short=Sm-D2; AltName: Full=snRNP core protein D2; FUNCTION: Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:32494006). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28502770, PubMed:28781166, PubMed:28076346). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077). SUBUNIT: Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:19325628, PubMed:21516107, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:32494006, PubMed:36797247). Most spliceosomal snRNPs contain a common set of Sm proteins, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (PubMed:10025403, PubMed:19325628, PubMed:21516107, PubMed:25555158, PubMed:26912367, PubMed:28502770, PubMed:28781166, PubMed:28076346). Component of the U1 snRNP (PubMed:19325628, PubMed:25555158). The U1 snRNP is composed of the U1 snRNA and the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C (PubMed:19325628, PubMed:25555158). Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 (PubMed:26912367). Component of the minor spliceosome, which splices U12-type introns (PubMed:15146077, PubMed:33509932). Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs assembly (PubMed:16314521). Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like structure where CLNS1A/pICln mimics additional Sm proteins and which is unable to assemble into the core snRNP. Interacts with SMN1; the interaction is direct (PubMed:21816274). Interacts with GEMIN2; the interaction is direct (PubMed:21816274, PubMed:31799625). Interacts with SNRPD1; the interaction is direct (PubMed:21816274, PubMed:31799625). Interacts with SNRPF; the interaction is direct (PubMed:21816274, PubMed:31799625). INTERACTION: P62316; P54253: ATXN1; NbExp=3; IntAct=EBI-297993, EBI-930964; P62316; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-297993, EBI-739624; P62316; Q9BW66: CINP; NbExp=3; IntAct=EBI-297993, EBI-739784; P62316; P54105: CLNS1A; NbExp=11; IntAct=EBI-297993, EBI-724693; P62316; P42858: HTT; NbExp=3; IntAct=EBI-297993, EBI-466029; P62316; Q9Y333: LSM2; NbExp=3; IntAct=EBI-297993, EBI-347416; P62316; P62312: LSM6; NbExp=3; IntAct=EBI-297993, EBI-373310; P62316; P62314: SNRPD1; NbExp=3; IntAct=EBI-297993, EBI-372177; P62316; P62306: SNRPF; NbExp=11; IntAct=EBI-297993, EBI-356900; P62316; Q5MJ10: SPANXN2; NbExp=3; IntAct=EBI-297993, EBI-12023934; SUBCELLULAR LOCATION: Cytoplasm, cytosol Nucleus te=SMN-mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes. MISCELLANEOUS: In the autoimmune disease systemic lupus erythematosus, antinuclear antibodies are developed with Sm specificity. SIMILARITY: Belongs to the snRNP core protein family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P62316
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Gene Ontology (GO) Annotations with Structured Vocabulary
AK291912 - Homo sapiens cDNA FLJ76568 complete cds, highly similar to Homo sapiens small nuclear ribonucleoprotein D2 polypeptide 16.5kDa (SNRPD2), transcript variant 1, mRNA. BC001930 - Homo sapiens small nuclear ribonucleoprotein D2 polypeptide 16.5kDa, mRNA (cDNA clone MGC:3995 IMAGE:2819767), complete cds. BC000486 - Homo sapiens small nuclear ribonucleoprotein D2 polypeptide 16.5kDa, mRNA (cDNA clone MGC:8353 IMAGE:2819767), complete cds. U15008 - Human SnRNP core protein Sm D2 mRNA, complete cds. DQ891246 - Synthetic construct clone IMAGE:100003876; FLH176228.01X; RZPDo839A12122D small nuclear ribonucleoprotein D2 polypeptide 16.5kDa (SNRPD2) gene, encodes complete protein. KJ892177 - Synthetic construct Homo sapiens clone ccsbBroadEn_01571 SNRPD2 gene, encodes complete protein. DQ894432 - Synthetic construct Homo sapiens clone IMAGE:100008892; FLH176224.01L; RZPDo839A12121D small nuclear ribonucleoprotein D2 polypeptide 16.5kDa (SNRPD2) gene, encodes complete protein. AB464218 - Synthetic construct DNA, clone: pF1KB6775, Homo sapiens SNRPD2 gene for small nuclear ribonucleoprotein D2 polypeptide, without stop codon, in Flexi system. JD438018 - Sequence 419042 from Patent EP1572962. JD185179 - Sequence 166203 from Patent EP1572962. JD147545 - Sequence 128569 from Patent EP1572962. JD418799 - Sequence 399823 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P62316 (Reactome details) participates in the following event(s):
R-HSA-191790 Loading and methylation of Sm proteins onto SMN Complexes R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-72107 Formation of the Spliceosomal E complex R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation R-HSA-75080 Formation of AT-AC A complex R-HSA-75079 Formation of AT-AC C complex R-HSA-191830 snRNP nuclear import and release R-HSA-72124 Formation of the Spliceosomal A Complex R-HSA-191786 snRNP complex assembly R-HSA-72127 Formation of the Spliceosomal B Complex R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-75081 Formation of AT-AC B Complex R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage R-HSA-156661 Formation of Exon Junction Complex R-HSA-191763 snRNP:Snurportin complex formation R-HSA-191784 snRNA Cap hypermethylation R-HSA-191859 snRNP Assembly R-HSA-194441 Metabolism of non-coding RNA R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-72165 mRNA Splicing - Minor Pathway R-HSA-8953854 Metabolism of RNA R-HSA-72172 mRNA Splicing R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA