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

    Gene ID: 23635, updated on 9-Jul-2017
    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; Vega:OTTHUMG00000119039
    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]
    Orthologs
    Location:
    5q14.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (81417360..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 uncharacterized LOC107986384 Neighboring gene uncharacterized LOC107986385

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686F03273

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    positive regulation of transcription from RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    single-stranded DNA-binding protein 2
    Names
    sequence-specific single-stranded-DNA-binding protein 2

    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, OTTHUMP00000222370, ENST00000505980.5, OTTHUMT00000369678
      Conserved Domains (2) summary
      smart00667
      Location:1945
      LisH; Lissencephaly type-1-like homology motif
      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, OTTHUMP00000222368, ENST00000515395.5, OTTHUMT00000369675
      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, OTTHUMP00000222367, ENST00000514493.5, OTTHUMT00000369674
      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, OTTHUMP00000222369, ENST00000509053.5, OTTHUMT00000369677
      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
    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, OTTHUMP00000147579, ENST00000320672.8, OTTHUMT00000239249
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      81417360..81751253 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009306.1XP_016864795.1  single-stranded DNA-binding protein 2 isoform X4

    2. XM_011543297.2XP_011541599.1  single-stranded DNA-binding protein 2 isoform X3

      Conserved Domains (2) summary
      smart00667
      Location:1945
      LisH; Lissencephaly type-1-like homology motif
      pfam04503
      Location:83325
      SSDP; Single-stranded DNA binding protein, SSDP
    3. XM_017009304.1XP_016864793.1  single-stranded DNA-binding protein 2 isoform X1

    4. XM_017009308.1XP_016864797.1  single-stranded DNA-binding protein 2 isoform X6

    5. XM_017009310.1XP_016864799.1  single-stranded DNA-binding protein 2 isoform X6

    6. XM_017009309.1XP_016864798.1  single-stranded DNA-binding protein 2 isoform X6

      Related
      ENSP00000425146.1, OTTHUMP00000222371, ENST00000504985.5, OTTHUMT00000369679
    7. XM_017009305.1XP_016864794.1  single-stranded DNA-binding protein 2 isoform X2

    8. XM_017009307.1XP_016864796.1  single-stranded DNA-binding protein 2 isoform X5

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      80145979..80479762 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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