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    BIVM basic, immunoglobulin-like variable motif containing [ Homo sapiens (human) ]

    Gene ID: 54841, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BIVMprovided by HGNC
    Official Full Name
    basic, immunoglobulin-like variable motif containingprovided by HGNC
    Primary source
    HGNC:HGNC:16034
    See related
    Ensembl:ENSG00000134897 MIM:619006; AllianceGenome:HGNC:16034
    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
    Summary
    Located in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 9.2), heart (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BIVM in Genome Data Viewer
    Location:
    13q33.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (102799119..102841533)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (102017295..102059729)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103451469..103493883)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103425891-103426568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103426569-103427246 Neighboring gene testis expressed 30 Neighboring gene protein O-glucosyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5485 Neighboring gene BIVM-ERCC5 readthrough Neighboring gene NANOG hESC enhancer GRCh37_chr13:103478160-103478661 Neighboring gene RNY5 pseudogene 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103485696-103485895 Neighboring gene H3K27ac hESC enhancers GRCh37_chr13:103497312-103498136 and GRCh37_chr13:103498137-103498959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5487 Neighboring gene ERCC excision repair 5, endonuclease Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:103518038-103519237 Neighboring gene methyltransferase like 21E, pseudogene

    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 of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role. Luo X, et al. Eur J Pediatr, 2023 Apr. PMID 36757497, Free PMC Article
    2. BIVM, a novel gene widely distributed among deuterostomes, shares a core sequence with an unusual gene in Giardia lamblia. Yoder JA, et al. Genomics, 2002 Jun. PMID 12036287
    3. An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia. Christian SL, et al. Genomics, 2002 May. PMID 11991713
    4. The transcriptome of human CD34+ hematopoietic stem-progenitor cells. Kim YC, et al. Proc Natl Acad Sci U S A, 2009 May 19. PMID 19416867, Free PMC Article
    5. Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy. Pieragostino D, et al. Mol Biosyst, 2013 Jun. PMID 23580065

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role.
      Title: Identification of genetic susceptibility in preterm newborns with bronchopulmonary dysplasia by whole-exome sequencing: BIVM gene may play a role.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough BIVM-ERCC5

    Readthrough gene: BIVM-ERCC5, Included gene: ERCC5

    Homology

    Clone Names

    • FLJ44301, FLJ44556, MGC133326

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    basic immunoglobulin-like variable motif-containing protein

    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_001159596.2 → NP_001153068.1  basic immunoglobulin-like variable motif-containing protein isoform b

      See identical proteins and their annotated locations for NP_001153068.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.
      Source sequence(s)
      AF411385, BC112339, GD145579
      Consensus CDS
      CCDS53879.1
      UniProtKB/TrEMBL
      A0A494C1A7
      Related
      ENSP00000412794.2, ENST00000448849.3

    2. NM_017693.4 → NP_060163.2  basic immunoglobulin-like variable motif-containing protein isoform a

      See identical proteins and their annotated locations for NP_060163.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AF411385, GD145579
      Consensus CDS
      CCDS9505.1
      UniProtKB/Swiss-Prot
      Q2M1J2, Q86UB2, Q9NXM4
      UniProtKB/TrEMBL
      A0A494C0D0
      Related
      ENSP00000257336.1, ENST00000257336.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      102799119..102841533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      102017295..102059729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UB2.3 GenPept UniProtKB/Swiss-Prot:Q86UB2

    Gene LinkOut

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

    Chemical Information
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