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    ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B [ Homo sapiens (human) ]

    Gene ID: 257629, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ANKS4Bprovided by HGNC
    Official Full Name
    ankyrin repeat and sterile alpha motif domain containing 4Bprovided by HGNC
    Primary source
    HGNC:HGNC:26795
    See related
    Ensembl:ENSG00000175311 MIM:609901; AllianceGenome:HGNC:26795
    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
    HARP
    Summary
    Involved in brush border assembly; cellular protein-containing complex assembly; and protein localization to microvillus. Located in brush border and microvillus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in small intestine (RPKM 15.8), duodenum (RPKM 11.5) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKS4B in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21233699..21253850)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (21168996..21189143)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21245020..21265171)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zona pellucida glycoprotein 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21233480-21234004 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21234005-21234530 Neighboring gene uncharacterized LOC105371123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10552 Neighboring gene crystallin mu Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10553 Neighboring gene uncharacterized LOC105371125 Neighboring gene Sharpr-MPRA regulatory region 10772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7250 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:21313709-21314297 Neighboring gene CRYM 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. A cryptic sequence targets the adhesion complex scaffold ANKS4B to apical microvilli to promote enterocyte brush border assembly. Graves MJ, et al. J Biol Chem, 2020 Sep 4. PMID 32636301, Free PMC Article
    2. Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. He Y, et al. Cell Rep, 2019 Oct 22. PMID 31644917
    3. ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation. Crawley SW, et al. Dev Cell, 2016 Jan 25. PMID 26812018, Free PMC Article
    4. Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues. Johnston AM, et al. Genes Cells, 2004 Oct. PMID 15461667
    5. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Weil D, et al. Hum Mol Genet, 2003 Mar 1. PMID 12588794

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A cryptic sequence targets the adhesion complex scaffold ANKS4B to apical microvilli to promote enterocyte brush border assembly.
      Title: A cryptic sequence targets the adhesion complex scaffold ANKS4B to apical microvilli to promote enterocyte brush border assembly.
    2. Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.
      Title: Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.
    3. ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B) localizes to the tips of adherent brush border microvilli and is essential for intermicrovillar adhesion
      Title: ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation.
    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

    • FLJ38819, MGC133380, MGC133381

    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 brush border assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in brush border assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to microvillus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in brush border IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and SAM domain-containing protein 4B
    Names
    harmonin-interacting ankyrin-repeat 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_145865.3 → NP_665872.2  ankyrin repeat and SAM domain-containing protein 4B

      See identical proteins and their annotated locations for NP_665872.2

      Status: VALIDATED

      Source sequence(s)
      AF001550, AK096138, BC112368
      Consensus CDS
      CCDS42130.1
      UniProtKB/Swiss-Prot
      Q8N8V4
      Related
      ENSP00000308772.5, ENST00000311620.7
      Conserved Domains (6) summary
      cd09587
      Location:345 → 410
      SAM_HARP; SAM domain of HARP subfamily
      PLN03192
      Location:38 → 217
      PLN03192; Voltage-dependent potassium channel; Provisional
      sd00045
      Location:3 → 29
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:1 → 49
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:38 → 121
      Ank_2; Ankyrin repeats (3 copies)
      cd21802
      Location:255 → 281
      CEN_ANKS4B; central domain found in ankyrin repeat and SAM domain-containing protein 4B

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      21233699..21253850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      57390..77541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      21168996..21189143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8V4.2 GenPept UniProtKB/Swiss-Prot:Q8N8V4

    Gene LinkOut

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

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