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    ANKRD37 ankyrin repeat domain 37 [ Homo sapiens (human) ]

    Gene ID: 353322, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD37provided by HGNC
    Official Full Name
    ankyrin repeat domain 37provided by HGNC
    Primary source
    HGNC:HGNC:29593
    See related
    Ensembl:ENSG00000186352 MIM:619021; AllianceGenome:HGNC:29593
    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
    Lrp2bp
    Summary
    Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 19.3), prostate (RPKM 17.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD37 in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185396841..185400723)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188740172..188743575)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186317995..186321395)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 97 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:186125066-186125237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22250 Neighboring gene sorting nexin 25 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186160877-186161869 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186161870-186162861 Neighboring gene NANOG hESC enhancer GRCh37_chr4:186187032-186187533 Neighboring gene Sharpr-MPRA regulatory region 940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:186223282-186223782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22253 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186227325-186227825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22255 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186239748-186240413 Neighboring gene uncharacterized LOC124900827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22258 Neighboring gene LRP2 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22261 Neighboring gene UFM1 specific peptidase 2 Neighboring gene cilia and flagella associated protein 96 Neighboring gene Sharpr-MPRA regulatory region 8879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15856 Neighboring gene uncharacterized LOC105377590 Neighboring gene coiled-coil domain containing 110

    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. A causal association of ANKRD37 with human hippocampal volume. Xu J, et al. Mol Psychiatry, 2022 Nov. PMID 36195640
    2. An integrative genomics approach identifies Hypoxia Inducible Factor-1 (HIF-1)-target genes that form the core response to hypoxia. Benita Y, et al. Nucleic Acids Res, 2009 Aug. PMID 19491311, Free PMC Article
    3. Molecular cloning and characterization of a novel human gene containing 4 ankyrin repeat domains. Li J, et al. Cell Mol Biol Lett, 2005. PMID 15809689
    4. A dual-activity topoisomerase complex regulates mRNA translation and turnover. Su S, et al. Nucleic Acids Res, 2022 Jul 8. PMID 35748872, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A causal association of ANKRD37 with human hippocampal volume.
      Title: A causal association of ANKRD37 with human hippocampal volume.
    2. ANKRD37 is a direct HIF-1 target that is highly induced in hypoxia.
      Title: An integrative genomics approach identifies Hypoxia Inducible Factor-1 (HIF-1)-target genes that form the core response to hypoxia.
    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

    Homology

    Clone Names

    • MGC111507

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 37
    Names
    low density lipoprotein receptor-related protein binding protein
    low-density lipoprotein receptor-related protein 2-binding 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_181726.4 → NP_859077.1  ankyrin repeat domain-containing protein 37

      See identical proteins and their annotated locations for NP_859077.1

      Status: VALIDATED

      Source sequence(s)
      AY296056, BC088376
      Consensus CDS
      CCDS3841.1
      UniProtKB/Swiss-Prot
      Q7Z713
      Related
      ENSP00000335147.4, ENST00000335174.6
      Conserved Domains (3) summary
      cd00204
      Location:10 → 116
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam13637
      Location:66 → 116
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:32 → 61
      ANK; ANK repeat [structural motif]

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      185396841..185400723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008176.2 → XP_016863665.1  ankyrin repeat domain-containing protein 37 isoform X1

      UniProtKB/TrEMBL
      B4E066
      Related
      ENST00000511393.4
      Conserved Domains (3) summary
      cd00204
      Location:10 → 116
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam13637
      Location:66 → 116
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:32 → 61
      ANK; ANK repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      188740172..188743575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349959.1 → XP_054205934.1  ankyrin repeat domain-containing protein 37 isoform X1

      UniProtKB/TrEMBL
      B4E066
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z713.1 GenPept UniProtKB/Swiss-Prot:Q7Z713

    Gene LinkOut

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

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