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    BRINP2 BMP/retinoic acid inducible neural specific 2 [ Homo sapiens (human) ]

    Gene ID: 57795, updated on 5-Mar-2024

    Summary

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    Official Symbol
    BRINP2provided by HGNC
    Official Full Name
    BMP/retinoic acid inducible neural specific 2provided by HGNC
    Primary source
    HGNC:HGNC:13746
    See related
    Ensembl:ENSG00000198797 MIM:619359; AllianceGenome:HGNC:13746
    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
    FAM5B; DBCCR1L2
    Summary
    Predicted to be involved in cellular response to retinoic acid; negative regulation of mitotic cell cycle; and positive regulation of neuron differentiation. Predicted to be located in extracellular region. Predicted to be active in dendrite; endoplasmic reticulum; and neuronal cell body. Implicated in oral squamous cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 11.7), adrenal (RPKM 4.6) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q25.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (177170958..177282422)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (176525633..176637111)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (177140094..177251558)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pappalysin 2 Neighboring gene PTP4A1 pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:176694898-176695118 Neighboring gene NANOG hESC enhancer GRCh37_chr1:176702698-176703199 Neighboring gene MPRA-validated peak474 silencer Neighboring gene GATA motif-containing MPRA enhancer 65 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:176873029-176873530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:176873531-176874030 Neighboring gene astrotactin 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:177013479-177014043 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:177017656-177018356 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:177029877-177031076 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:177034489-177035123 Neighboring gene microRNA 488 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr1:177139732-177140321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:177140322-177140910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:177150672-177151233 Neighboring gene uncharacterized LOC105371625 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:177224616-177225815 Neighboring gene long intergenic non-protein coding RNA 1645 Neighboring gene NANOG hESC enhancer GRCh37_chr1:177624802-177625303 Neighboring gene long intergenic non-protein coding RNA 1741

    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. Identification and characterization of novel developmentally regulated neural-specific proteins, BRINP family. Kawano H, et al. Brain Res Mol Brain Res, 2004 Jun 18. PMID 15193423
    2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
    3. Identification of host proteins required for HIV infection through a functional genomic screen. Brass AL, et al. Science, 2008 Feb 15. PMID 18187620
    4. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    5. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of family with sequence similarity 5, member B (FAM5B) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41342, KIAA1747

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to retinoic acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in central nervous system neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BMP/retinoic acid-inducible neural-specific protein 2
    Names
    DBCCR1-like protein 2
    DBCCR1-like2
    bone morphogenetic protein/retinoic acid inducible neural-specific 2
    bone morphogenic protein/retinoic acid inducible neural-specific 2
    family with sequence similarity 5, member B
    protein FAM5B

    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_021165.4 → NP_066988.1  BMP/retinoic acid-inducible neural-specific protein 2 precursor

      See identical proteins and their annotated locations for NP_066988.1

      Status: VALIDATED

      Source sequence(s)
      AB051534, AB161694, AL021398, AL022143, DA118275
      Consensus CDS
      CCDS1320.1
      UniProtKB/Swiss-Prot
      O95560, Q6ZWC1, Q7LCZ9, Q8N360, Q9C0B6
      Related
      ENSP00000354481.4, ENST00000361539.5
      Conserved Domains (1) summary
      smart00457
      Location:90 → 281
      MACPF; membrane-attack complex / perforin

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      177170958..177282422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245379.3 → XP_005245436.1  BMP/retinoic acid-inducible neural-specific protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005245436.1

      UniProtKB/Swiss-Prot
      O95560, Q6ZWC1, Q7LCZ9, Q8N360, Q9C0B6
      Conserved Domains (1) summary
      smart00457
      Location:90 → 281
      MACPF; membrane-attack complex / perforin

    2. XM_024448722.2 → XP_024304490.1  BMP/retinoic acid-inducible neural-specific protein 2 isoform X1

      UniProtKB/Swiss-Prot
      O95560, Q6ZWC1, Q7LCZ9, Q8N360, Q9C0B6
      Conserved Domains (1) summary
      smart00457
      Location:90 → 281
      MACPF; membrane-attack complex / perforin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      176525633..176637111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337928.1 → XP_054193903.1  BMP/retinoic acid-inducible neural-specific protein 2 isoform X1

    2. XM_054337929.1 → XP_054193904.1  BMP/retinoic acid-inducible neural-specific protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0B6.2 GenPept UniProtKB/Swiss-Prot:Q9C0B6

    Gene LinkOut

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

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