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    HIGD2B HIG1 hypoxia inducible domain family member 2B [ Homo sapiens (human) ]

    Gene ID: 123346, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HIGD2Bprovided by HGNC
    Official Full Name
    HIG1 hypoxia inducible domain family member 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:26984
    See related
    Ensembl:ENSG00000175202 AllianceGenome:HGNC:26984
    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
    HIGD2BP
    Summary
    Predicted to be involved in mitochondrial respirasome assembly. Predicted to be located in membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 2.2) See more
    Orthologs
    all
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    Genomic context

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    See HIGD2B in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (72675798..72686182, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (70493133..70503533, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72968139..72978523, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72920983-72921575 Neighboring gene uncharacterized LOC112268145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72939289-72940171 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:72942597-72943114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72954615-72955116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72955117-72955616 Neighboring gene golgin A6 family member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72963099-72964076 Neighboring gene RNA, 7SL, cytoplasmic 853, pseudogene Neighboring gene MPRA-validated peak2381 silencer Neighboring gene Bardet-Biedl syndrome 4 Neighboring gene ADP dependent glucokinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6626 Neighboring gene ADPGK antisense RNA 1

    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. Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis. Li H, et al. Cell Rep, 2022 Dec 20. PMID 36543142
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial respirasome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative HIG1 domain family member 2B
    Names
    HIG1 hypoxia inducible domain family, member 2B (pseudogene)

    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_001350932.3 → NP_001337861.1  putative HIG1 domain family member 2B

      Status: VALIDATED

      Source sequence(s)
      AC009712, BC040890
      Consensus CDS
      CCDS86473.1
      UniProtKB/Swiss-Prot
      Q4VC39
      Related
      ENSP00000307951.3, ENST00000311755.6
      Conserved Domains (1) summary
      pfam04588
      Location:47 → 94
      HIG_1_N; Hypoxia induced protein conserved region

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      72675798..72686182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449842.2 → XP_024305610.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39
      Conserved Domains (1) summary
      pfam04588
      Location:47 → 94
      HIG_1_N; Hypoxia induced protein conserved region

    2. XM_024449841.2 → XP_024305609.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39
      Conserved Domains (1) summary
      pfam04588
      Location:47 → 94
      HIG_1_N; Hypoxia induced protein conserved region

    3. XM_024449840.2 → XP_024305608.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39
      Conserved Domains (1) summary
      pfam04588
      Location:47 → 94
      HIG_1_N; Hypoxia induced protein conserved region

    4. XM_024449839.2 → XP_024305607.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39
      Conserved Domains (1) summary
      pfam04588
      Location:47 → 94
      HIG_1_N; Hypoxia induced protein conserved region

    5. XM_024449837.2 → XP_024305605.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39
      Conserved Domains (1) summary
      pfam04588
      Location:47 → 94
      HIG_1_N; Hypoxia induced protein conserved region

    6. XM_024449838.2 → XP_024305606.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39
      Conserved Domains (1) summary
      pfam04588
      Location:47 → 94
      HIG_1_N; Hypoxia induced protein conserved region

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      70493133..70503533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377270.1 → XP_054233245.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39

    2. XM_054377267.1 → XP_054233242.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39

    3. XM_054377268.1 → XP_054233243.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39

    4. XM_054377269.1 → XP_054233244.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39

    5. XM_054377272.1 → XP_054233247.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39

    6. XM_054377271.1 → XP_054233246.1  putative HIG1 domain family member 2B isoform X1

      UniProtKB/Swiss-Prot
      Q4VC39

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001017925.1: Suppressed sequence

      Description
      NM_001017925.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4VC39.1 GenPept UniProtKB/Swiss-Prot:Q4VC39

    Gene LinkOut

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