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    NUCB2 nucleobindin 2 [ Homo sapiens (human) ]

    Gene ID: 4925, updated on 22-Apr-2017
    Official Symbol
    NUCB2provided by HGNC
    Official Full Name
    nucleobindin 2provided by HGNC
    Primary source
    HGNC:HGNC:8044
    See related
    Ensembl:ENSG00000070081 MIM:608020; Vega:OTTHUMG00000166050
    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
    NEFA; HEL-S-109
    Summary
    This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]
    Orthologs
    Location:
    11p15.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (17260340..17331881)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17281884..17371510)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha Neighboring gene ribosomal protein L29 pseudogene 21 Neighboring gene ribosomal protein S2 pseudogene 40 Neighboring gene uncharacterized LOC105376575 Neighboring gene uncharacterized LOC105376576 Neighboring gene natural killer cell cytotoxicity receptor 3 ligand 1

    • 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
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    nucleobindin-2
    Names
    DNA-binding protein NEFA
    epididymis secretory protein Li 109
    gastric cancer antigen Zg4
    nesfatin 1
    nucleobinding 2
    prepronefastin
    prepronesfatin

    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_001330227.1NP_001317156.1  nucleobindin-2 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC107956, KF455328
      Consensus CDS
      CCDS81556.1
      UniProtKB/TrEMBL
      Q2L696
      Conserved Domains (1) summary
      pfam14235
      Location:297353
      DUF4337; Domain of unknown function (DUF4337)
    2. NM_005013.2NP_005004.1  nucleobindin-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005004.1

      Status: VALIDATED

      Source sequence(s)
      AF450266, AK128739, DA816251, X76732
      Consensus CDS
      CCDS41623.1
      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Related
      ENSP00000436455.1, OTTHUMP00000231794, ENST00000529010.5, OTTHUMT00000387614
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    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_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      17260340..17331881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017815.1XP_016873304.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    2. XM_017017811.1XP_016873300.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    3. XM_017017810.1XP_016873299.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    4. XM_017017827.1XP_016873316.1  nucleobindin-2 isoform X4

      UniProtKB/TrEMBL
      Q2L696
      Conserved Domains (1) summary
      pfam14235
      Location:297353
      DUF4337; Domain of unknown function (DUF4337)
    5. XM_017017820.1XP_016873309.1  nucleobindin-2 isoform X3

      Conserved Domains (1) summary
      pfam14235
      Location:298354
      DUF4337; Domain of unknown function (DUF4337)
    6. XM_017017821.1XP_016873310.1  nucleobindin-2 isoform X3

      Conserved Domains (1) summary
      pfam14235
      Location:298354
      DUF4337; Domain of unknown function (DUF4337)
    7. XM_017017824.1XP_016873313.1  nucleobindin-2 isoform X4

      UniProtKB/TrEMBL
      Q2L696
      Conserved Domains (1) summary
      pfam14235
      Location:297353
      DUF4337; Domain of unknown function (DUF4337)
    8. XM_017017804.1XP_016873293.1  nucleobindin-2 isoform X1

      Conserved Domains (3) summary
      pfam13499
      Location:248322
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:345384
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:251322
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    9. XM_017017807.1XP_016873296.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    10. XM_017017805.1XP_016873294.1  nucleobindin-2 isoform X1

      Conserved Domains (3) summary
      pfam13499
      Location:248322
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:345384
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:251322
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    11. XM_017017823.1XP_016873312.1  nucleobindin-2 isoform X4

      UniProtKB/TrEMBL
      Q2L696
      Conserved Domains (1) summary
      pfam14235
      Location:297353
      DUF4337; Domain of unknown function (DUF4337)
    12. XM_017017829.1XP_016873318.1  nucleobindin-2 isoform X4

      UniProtKB/TrEMBL
      Q2L696
      Related
      ENSP00000408702.2, ENST00000458064.6
      Conserved Domains (1) summary
      pfam14235
      Location:297353
      DUF4337; Domain of unknown function (DUF4337)
    13. XM_017017826.1XP_016873315.1  nucleobindin-2 isoform X4

      UniProtKB/TrEMBL
      Q2L696
      Conserved Domains (1) summary
      pfam14235
      Location:297353
      DUF4337; Domain of unknown function (DUF4337)
    14. XM_017017809.1XP_016873298.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    15. XM_017017806.1XP_016873295.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    16. XM_017017822.1XP_016873311.1  nucleobindin-2 isoform X4

      Conserved Domains (1) summary
      pfam14235
      Location:297353
      DUF4337; Domain of unknown function (DUF4337)
    17. XM_017017818.1XP_016873307.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    18. XM_017017828.1XP_016873317.1  nucleobindin-2 isoform X4

      UniProtKB/TrEMBL
      Q2L696
      Conserved Domains (1) summary
      pfam14235
      Location:297353
      DUF4337; Domain of unknown function (DUF4337)
    19. XM_017017814.1XP_016873303.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    20. XM_017017812.1XP_016873301.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    21. XM_017017808.1XP_016873297.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    22. XM_017017825.1XP_016873314.1  nucleobindin-2 isoform X4

      UniProtKB/TrEMBL
      Q2L696
      Conserved Domains (1) summary
      pfam14235
      Location:297353
      DUF4337; Domain of unknown function (DUF4337)
    23. XM_017017813.1XP_016873302.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    24. XM_017017816.1XP_016873305.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    25. XM_017017819.1XP_016873308.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Related
      ENSP00000481959.1, ENST00000622082.4
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    26. XM_017017817.1XP_016873306.1  nucleobindin-2 isoform X2

      UniProtKB/Swiss-Prot
      P80303
      UniProtKB/TrEMBL
      V9HW75
      Conserved Domains (3) summary
      pfam13499
      Location:247321
      EF-hand_7; EF-hand domain pair
      pfam14235
      Location:344383
      DUF4337; Domain of unknown function (DUF4337)
      cl08302
      Location:250321
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RNA

    1. XR_930871.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      17297833..17352630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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