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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
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Genomic context

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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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