SNAPC2 small nuclear RNA activating complex polypeptide 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNAPC2provided by HGNC
Official Full Name: small nuclear RNA activating complex polypeptide 2provided by HGNC
Primary source: HGNC:HGNC:11135
See related: Ensembl:ENSG00000104976 MIM:605076; AllianceGenome:HGNC:11135
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SNAP45; PTFDELTA
Summary: This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Expression: Ubiquitous expression in endometrium (RPKM 11.0), testis (RPKM 10.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (7920338..7923250)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (7921293..7924205)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (7985223..7988135)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The findings invoke a model wherein incomplete DNA synthesis during S phase leads to a DNA damage response and formation of 53BP1-OPT domains in the subsequent G1.
Title: Replication stress induces 53BP1-containing OPT domains in G1 cells.
SNAP45 plays two roles in the cell, one as a subunit of the transcription factor SNAP(c) and another as a factor required for proper mitotic progression
Title: Mitotic functions for SNAP45, a subunit of the small nuclear RNA-activating protein complex SNAPc.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II general transcription initiation factor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in snRNA transcription	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in transcription by RNA polymerase III	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in nuclear body	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: snRNA-activating protein complex subunit 2

Names: PSE-binding factor subunit delta; PTF subunit delta; SNAPC 45 kDa subunit; SNAPc subunit 2; proximal sequence element-binding transcription factor subunit delta; small nuclear RNA activating complex, polypeptide 2, 45kD; small nuclear RNA activating complex, polypeptide 2, 45kDa; snRNA-activating protein complex 45 kDa subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003083.4 → NP_003074.1 snRNA-activating protein complex subunit 2

See identical proteins and their annotated locations for NP_003074.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.

Source sequence(s)

AC010336, U44755

Consensus CDS

CCDS12190.1

UniProtKB/Swiss-Prot

B2RBZ6, D6W663, Q13486, Q13487

UniProtKB/TrEMBL

Q53GK5

Related

ENSP00000221573.5, ENST00000221573.11

Conserved Domains (1) summary

pfam11035
Location:1 → 330

SnAPC_2_like; Small nuclear RNA activating complex subunit 2, SNAP190 Myb

RNA

NR_030717.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 5' exon compared to variant 1. This variant is represented as non-coding due to uncertainty about its protein-coding capacity. This transcript lacks a portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

BX647416

Related

ENST00000597584.5