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SSBP2 single stranded DNA binding protein 2 [ Homo sapiens (human) ]

Gene ID: 23635, updated on 21-Dec-2019

Summary

Official Symbol
SSBP2provided by HGNC
Official Full Name
single stranded DNA binding protein 2provided by HGNC
Primary source
HGNC:HGNC:15831
See related
Ensembl:ENSG00000145687 MIM:607389
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
HSPC116; SOSS-B2
Summary
This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]
Expression
Ubiquitous expression in ovary (RPKM 6.2), brain (RPKM 5.5) and 25 other tissues See more
Orthologs

Genomic context

See SSBP2 in Genome Data Viewer
Location:
5q14.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (81412807..81751253, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (80713179..81047072, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CKMT2 antisense RNA 1 Neighboring gene creatine kinase, mitochondrial 2 Neighboring gene zinc finger CCHC-type containing 9 Neighboring gene acyl-CoA thioesterase 12 Neighboring gene CRISPRi-validated cis-regulatory element chr5.2009 Neighboring gene CRISPRi-validated cis-regulatory element chr5.2010

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.
NHGRI GWA Catalog
SSBP2 variants are associated with survival in glioblastoma patients.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686F03273

Gene Ontology Provided by GOA

Function Evidence Code Pubs
single-stranded DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
single-stranded DNA-binding protein 2
Names
sequence-specific single-stranded-DNA-binding protein 2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_051589.1 RefSeqGene

    Range
    5001..343447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256732.2NP_001243661.1  single-stranded DNA-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001243661.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC010623, AF077048, AK299858, BI517313
    Consensus CDS
    CCDS75268.1
    UniProtKB/Swiss-Prot
    P81877
    UniProtKB/TrEMBL
    A0A087X159
    Related
    ENSP00000483921.1, ENST00000615665.4
    Conserved Domains (2) summary
    smart00667
    Location:1945
    LisH; Lissencephaly type-1-like homology motif
    pfam04503
    Location:83346
    SSDP; Single-stranded DNA binding protein, SSDP
  2. NM_001256733.2NP_001243662.1  single-stranded DNA-binding protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001243662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC010623, AK293544, BI517313
    Consensus CDS
    CCDS58963.1
    UniProtKB/Swiss-Prot
    P81877
    Related
    ENSP00000423969.1, ENST00000505980.5
    Conserved Domains (1) summary
    pfam04503
    Location:83318
    SSDP; Single-stranded DNA binding protein, SSDP
  3. NM_001256734.2NP_001243663.1  single-stranded DNA-binding protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001243663.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC010623, AK299858, BI517313, DA202987
    Consensus CDS
    CCDS58962.1
    UniProtKB/Swiss-Prot
    P81877
    Related
    ENSP00000424657.1, ENST00000515395.5
    Conserved Domains (2) summary
    smart00667
    Location:1945
    LisH; Lissencephaly type-1-like homology motif
    pfam04503
    Location:92316
    SSDP; Single-stranded DNA binding protein, SSDP
  4. NM_001256735.2NP_001243664.1  single-stranded DNA-binding protein 2 isoform 5

    See identical proteins and their annotated locations for NP_001243664.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC010623, AC016562, AC026419, AC093250, BI517313
    Consensus CDS
    CCDS58961.1
    UniProtKB/Swiss-Prot
    P81877
    Related
    ENSP00000426183.1, ENST00000514493.5
    Conserved Domains (2) summary
    smart00667
    Location:1945
    LisH; Lissencephaly type-1-like homology motif
    pfam04503
    Location:92308
    SSDP; Single-stranded DNA binding protein, SSDP
  5. NM_001256736.2NP_001243665.1  single-stranded DNA-binding protein 2 isoform 6

    See identical proteins and their annotated locations for NP_001243665.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lack two exons and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AC010623, AK294864, BC017020, BI517313
    Consensus CDS
    CCDS58960.1
    UniProtKB/Swiss-Prot
    P81877
    Related
    ENSP00000422961.1, ENST00000509053.5
    Conserved Domains (2) summary
    smart00667
    Location:1945
    LisH; Lissencephaly type-1-like homology motif
    pfam04503
    Location:92287
    SSDP; Single-stranded DNA binding protein, SSDP
  6. NM_001345886.1NP_001332815.1  single-stranded DNA-binding protein 2 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (7) is shorter than isoform 1.
    Source sequence(s)
    AC010623, AC016562, AC026419, AC093250
    Conserved Domains (2) summary
    smart00667
    Location:1945
    LisH; Lissencephaly type-1-like homology motif
    pfam04503
    Location:83325
    SSDP; Single-stranded DNA binding protein, SSDP
  7. NM_012446.4NP_036578.2  single-stranded DNA-binding protein 2 isoform 2

    See identical proteins and their annotated locations for NP_036578.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC010623, BC017020, BI517313
    Consensus CDS
    CCDS4056.1
    UniProtKB/Swiss-Prot
    P81877
    Related
    ENSP00000322977.4, ENST00000320672.8
    Conserved Domains (2) summary
    smart00667
    Location:1945
    LisH; Lissencephaly type-1-like homology motif
    pfam04503
    Location:83338
    SSDP; Single-stranded DNA binding protein, SSDP

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    81412807..81751253 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009306.2XP_016864795.1  single-stranded DNA-binding protein 2 isoform X3

    Conserved Domains (2) summary
    smart00667
    Location:1945
    LisH; Lissencephaly type-1-like homology motif
    pfam04503
    Location:83317
    SSDP; Single-stranded DNA binding protein, SSDP
  2. XM_017009304.1XP_016864793.1  single-stranded DNA-binding protein 2 isoform X1

  3. XM_017009308.1XP_016864797.1  single-stranded DNA-binding protein 2 isoform X5

  4. XM_017009310.1XP_016864799.1  single-stranded DNA-binding protein 2 isoform X5

  5. XM_017009309.1XP_016864798.1  single-stranded DNA-binding protein 2 isoform X5

    Related
    ENSP00000425146.1, ENST00000504985.5
  6. XM_017009305.1XP_016864794.1  single-stranded DNA-binding protein 2 isoform X2

  7. XM_017009307.2XP_016864796.1  single-stranded DNA-binding protein 2 isoform X4

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