U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SDE2 SDE2 telomere maintenance homolog [ Homo sapiens (human) ]

Gene ID: 163859, updated on 27-Nov-2024

Summary

Official Symbol
SDE2provided by HGNC
Official Full Name
SDE2 telomere maintenance homologprovided by HGNC
Primary source
HGNC:HGNC:26643
See related
Ensembl:ENSG00000143751 MIM:620743; AllianceGenome:HGNC:26643
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C1orf55; dJ671D7.1
Summary
Enables damaged DNA binding activity and snoRNA binding activity. Involved in several processes, including cellular response to UV; gene expression; and mitotic G1 DNA damage checkpoint signaling. Located in several cellular components, including Golgi apparatus; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 11.6), thyroid (RPKM 7.7) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SDE2 in Genome Data Viewer
Location:
1q42.12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (225982702..225999343, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (225170616..225187257, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (226170403..226187044, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226126985-226127562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226131035-226131614 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226133351-226133930 Neighboring gene left-right determination factor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226138649-226139186 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:226146947-226147117 Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2644 Neighboring gene H3-3A divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr1:226249972-226250137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2645 Neighboring gene H3.3 histone A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226270255-226271122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1872 Neighboring gene long intergenic non-protein coding RNA 1703

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ35382

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables snoRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion HTP PubMed 
located_in nuclear speck 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
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
splicing regulator SDE2
Names
UPF0667 protein C1orf55
protein SDE2 homolog
replication stress response regulator SDE2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_152608.4NP_689821.3  splicing regulator SDE2

    See identical proteins and their annotated locations for NP_689821.3

    Status: VALIDATED

    Source sequence(s)
    AL133288, BC016290, CB140971
    Consensus CDS
    CCDS41473.1
    UniProtKB/Swiss-Prot
    A8K4P3, Q5TD36, Q6IQ49, Q6ZS26, Q8NAG7
    Related
    ENSP00000272091.7, ENST00000272091.8
    Conserved Domains (2) summary
    pfam13297
    Location:385444
    Telomere_Sde2_2; Telomere stability C-terminal
    cl00155
    Location:69144
    UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    225982702..225999343 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    225170616..225187257 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)