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    ANKRD46 ankyrin repeat domain 46 [ Homo sapiens (human) ]

    Gene ID: 157567, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ANKRD46provided by HGNC
    Official Full Name
    ankyrin repeat domain 46provided by HGNC
    Primary source
    HGNC:HGNC:27229
    See related
    Ensembl:ENSG00000186106 AllianceGenome:HGNC:27229
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANK-S; GENX-115279
    Summary
    This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
    Expression
    Ubiquitous expression in brain (RPKM 15.9), adrenal (RPKM 13.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD46 in Genome Data Viewer
    Location:
    8q22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (100509752..100559759, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (101635790..101685789, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (101521980..101571987, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901990 Neighboring gene uncharacterized LOC105375670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27700 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:101455271-101456130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:101470299-101470976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:101471860-101472360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:101472361-101472861 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:101477753-101478339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27703 Neighboring gene uncharacterized LOC124901992 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:101499786-101500985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:101503341-101504286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27708 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr8:101506997-101507937 and GRCh37_chr8:101507938-101508879 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:101508880-101509820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:101511587-101512088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:101512089-101512588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:101522255-101522840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27713 Neighboring gene MPRA-validated peak7124 silencer Neighboring gene Sharpr-MPRA regulatory region 13822 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 62 Neighboring gene sorting nexin 31 Neighboring gene uncharacterized LOC105375671 Neighboring gene uncharacterized LOC105375672 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:101679632-101680242

    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 altered gene expression in skeletal muscles from Duchenne muscular dystrophy patients. Tkatchenko AV, et al. Neuromuscul Disord, 2001 Apr. PMID 11297942
    2. Identification of genes with a correlation between copy number and expression in gastric cancer. Cheng L, et al. BMC Med Genomics, 2012 May 4. PMID 22559327, Free PMC Article
    3. Knockdown of miR-21 in human breast cancer cell lines inhibits proliferation, in vitro migration and in vivo tumor growth. Yan LX, et al. Breast Cancer Res, 2011 Jan 10. PMID 21219636, Free PMC Article
    4. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Denny JC, et al. Circulation, 2010 Nov 16. PMID 21041692, Free PMC Article
    5. FAM105A/OTULINL Is a Pseudodeubiquitinase of the OTU-Class that Localizes to the ER Membrane. Ceccarelli DF, et al. Structure, 2019 Jun 4. PMID 31056421, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.
    EBI GWAS Catalog

    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 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 46
    Names
    ankyrin repeat small 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_001270377.2 → NP_001257306.1  ankyrin repeat domain-containing protein 46 isoform 1

      See identical proteins and their annotated locations for NP_001257306.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shorter protein (isoform 1). Variants 1, 2, and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AB077205, AK095235, AP000424, DA503253
      Consensus CDS
      CCDS6287.1
      UniProtKB/Swiss-Prot
      Q6P9B7, Q86W74
      UniProtKB/TrEMBL
      B3KT99
      Related
      ENSP00000335287.3, ENST00000335659.7
      Conserved Domains (3) summary
      sd00045
      Location:15 → 42
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:16 → 103
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:82 → 142
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_001270378.2 → NP_001257307.1  ankyrin repeat domain-containing protein 46 isoform 1

      See identical proteins and their annotated locations for NP_001257307.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon, compared to variant 1. Variants 1, 2, and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AB077205, AP000424, BC035087
      Consensus CDS
      CCDS6287.1
      UniProtKB/Swiss-Prot
      Q6P9B7, Q86W74
      UniProtKB/TrEMBL
      B3KT99
      Related
      ENSP00000428388.1, ENST00000520311.5
      Conserved Domains (3) summary
      sd00045
      Location:15 → 42
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:16 → 103
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:82 → 142
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_001270379.2 → NP_001257308.1  ankyrin repeat domain-containing protein 46 isoform 2

      See identical proteins and their annotated locations for NP_001257308.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses alternate 3' exon structure, and differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded protein (isoform 2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      BC050396, DA503253
      Consensus CDS
      CCDS59109.1
      UniProtKB/TrEMBL
      J3KP26
      Related
      ENSP00000429015.1, ENST00000520552.5
      Conserved Domains (2) summary
      cd00204
      Location:15 → 128
      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 ...
      sd00045
      Location:15 → 42
      ANK; ANK repeat [structural motif]

    4. NM_198401.4 → NP_940683.1  ankyrin repeat domain-containing protein 46 isoform 1

      See identical proteins and their annotated locations for NP_940683.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AB077205
      Consensus CDS
      CCDS6287.1
      UniProtKB/Swiss-Prot
      Q6P9B7, Q86W74
      UniProtKB/TrEMBL
      B3KT99
      Related
      ENSP00000430056.1, ENST00000519597.5
      Conserved Domains (3) summary
      sd00045
      Location:15 → 42
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:16 → 103
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:82 → 142
      Ank_2; Ankyrin repeats (3 copies)

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      100509752..100559759 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      101635790..101685789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86W74.2 GenPept UniProtKB/Swiss-Prot:Q86W74

    Gene LinkOut

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

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