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    NIBAN2 niban apoptosis regulator 2 [ Homo sapiens (human) ]

    Gene ID: 64855, updated on 11-Apr-2024

    Summary

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    Official Symbol
    NIBAN2provided by HGNC
    Official Full Name
    niban apoptosis regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:25282
    See related
    Ensembl:ENSG00000136830 MIM:614045; AllianceGenome:HGNC:25282
    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
    OC58; MEG-3; C9orf88; FAM129B; MINERVA; bA356B19.6
    Summary
    Enables transcription coactivator activity. Involved in several processes, including gonadotropin secretion; positive regulation of transcription regulatory region DNA binding activity; and regulation of cellular macromolecule biosynthetic process. Located in several cellular components, including adherens junction; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in esophagus (RPKM 167.0), lung (RPKM 55.7) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q34.11
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127505343..127579031, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (139712305..139786022, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130267622..130341310, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:130211857-130212400 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130212943-130213486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29042 Neighboring gene small nucleolar RNA, H/ACA box 65 Neighboring gene ribosomal protein L12 Neighboring gene leucine rich repeat and sterile alpha motif containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130226032-130226532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130226533-130227033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130251390-130251970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130251971-130252551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130256483-130257002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130262849-130263350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130266531-130267404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130285667-130286168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130286169-130286668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130287309-130287861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130293634-130294194 Neighboring gene uncharacterized LOC105376281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130314335-130314834 Neighboring gene Sharpr-MPRA regulatory region 14561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130323322-130324026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130324732-130325436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130325437-130326140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130328804-130329344 Neighboring gene FAM129B intron CAGE-defined low expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130331508-130332048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130332049-130332588 Neighboring gene Sharpr-MPRA regulatory region 10550 Neighboring gene uncharacterized LOC124902276 Neighboring gene uncharacterized LOC124902277

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Structural Insight on Functional Regulation of Human MINERVA Protein. Hahn H, et al. Int J Mol Sci, 2020 Oct 31. PMID 33142954, Free PMC Article
    2. Functional proteomics identifies targets of phosphorylation by B-Raf signaling in melanoma. Old WM, et al. Mol Cell, 2009 Apr 10. PMID 19362540, Free PMC Article
    3. FAM129B, an antioxidative protein, reduces chemosensitivity by competing with Nrf2 for Keap1 binding. Cheng KC, et al. EBioMedicine, 2019 Jul. PMID 31262713, Free PMC Article
    4. FAM129B/MINERVA, a novel adherens junction-associated protein, suppresses apoptosis in HeLa cells. Chen S, et al. J Biol Chem, 2011 Mar 25. PMID 21148485, Free PMC Article
    5. Maternally expressed gene 3, an imprinted noncoding RNA gene, is associated with meningioma pathogenesis and progression. Zhang X, et al. Cancer Res, 2010 Mar 15. PMID 20179190, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural Insight on Functional Regulation of Human MINERVA Protein.
      Title: Structural Insight on Functional Regulation of Human MINERVA Protein.
    2. We have demonstrated that FAM129B in cancer promotes Nrf2 activity by reducing its ubiquitination through competition with Nrf2 for Keap1 binding via its DLG and ETGE motifs. In addition, FAM129B reduces chemosensitivity by augmenting Nrf2 antioxidative signaling and confers poor prognosis in breast and lung cancer
      Title: FAM129B, an antioxidative protein, reduces chemosensitivity by competing with Nrf2 for Keap1 binding.
    3. activated EGFR phosphorylates the Y593 residue of the protein known as family with sequence similarity 129, member B (FAM129B), which is overexpressed in many types of human cancer.
      Title: EGFR phosphorylates FAM129B to promote Ras activation.
    4. The rapid induction of apoptosis in FAM129B knockdown cells was reversed by co-transfection with recombinant FAM129B, indicating that its effect on apoptosis was specific.
      Title: FAM129B/MINERVA, a novel adherens junction-associated protein, suppresses apoptosis in HeLa cells.
    5. Phosphorylation of FAM129B has a role in controlling melanoma cell invasion.
      Title: Functional proteomics identifies targets of phosphorylation by B-Raf signaling in melanoma.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13518, FLJ22151, FLJ22298, DKFZP434H0820

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gonadotropin secretion IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in gonadotropin secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of gene expression via chromosomal CpG island demethylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of skeletal muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    NOT located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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

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    Preferred Names
    protein Niban 2
    Names
    family with sequence similarity 129 member B
    melanoma invasion by ERK
    niban-like protein 1

    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)

    1. NM_001035534.3 → NP_001030611.1  protein Niban 2 isoform 2

      See identical proteins and their annotated locations for NP_001030611.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL390116, AL445222
      Consensus CDS
      CCDS35144.1
      Related
      ENSP00000362411.3, ENST00000373314.7
      Conserved Domains (2) summary
      pfam15685
      Location:637 → 732
      GGN; Gametogenetin
      cl17171
      Location:122 → 175
      PH-like; Pleckstrin homology-like domain

    2. NM_022833.4 → NP_073744.2  protein Niban 2 isoform 1

      See identical proteins and their annotated locations for NP_073744.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL137555, BM557756, BX280720
      Consensus CDS
      CCDS35145.1
      UniProtKB/Swiss-Prot
      Q4LE55, Q5VVW6, Q5VVW7, Q96TA1, Q9BUS2, Q9NT35
      Related
      ENSP00000362409.3, ENST00000373312.4
      Conserved Domains (2) summary
      pfam15685
      Location:650 → 745
      GGN; Gametogenetin
      cl17171
      Location:135 → 188
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      127505343..127579031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518925.2 → XP_011517227.1  protein Niban 2 isoform X2

      Conserved Domains (2) summary
      pfam15685
      Location:680 → 775
      GGN; Gametogenetin
      cl17171
      Location:165 → 218
      PH-like; Pleckstrin homology-like domain

    2. XM_005252135.3 → XP_005252192.3  protein Niban 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      139712305..139786022 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96TA1.3 GenPept UniProtKB/Swiss-Prot:Q96TA1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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