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

Gene ID: 157567, updated on 3-May-2020

Summary

Official Symbol
ANKRD46provided by HGNC
Official Full Name
ankyrin repeat domain 46provided by HGNC
Primary source
HGNC:HGNC:27229
See related
Ensembl:ENSG00000186106
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

Genomic context

See ANKRD46 in Genome Data Viewer
Location:
8q22.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (100509752..100559759, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (101521980..101572014, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNF19A-ANKRD46 intergenic CAGE-defined high expression enhancer Neighboring gene uncharacterized LOC105375670 Neighboring gene uncharacterized LOC107986959 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

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ankyrin repeat domain-containing protein 46
Names
ankyrin repeat small protein

NCBI Reference Sequences (RefSeq)

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_001270377.2NP_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
    Q86W74
    UniProtKB/TrEMBL
    A0A024R9E1, B3KT99
    Related
    ENSP00000335287.3, ENST00000335659.7
    Conserved Domains (2) summary
    sd00045
    Location:1542
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:16105
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001270378.2NP_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
    Q86W74
    UniProtKB/TrEMBL
    A0A024R9E1
    Related
    ENSP00000428388.1, ENST00000520311.5
    Conserved Domains (2) summary
    sd00045
    Location:1542
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:16105
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_001270379.2NP_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/Swiss-Prot
    Q86W74
    UniProtKB/TrEMBL
    A0A024R9G2
    Related
    ENSP00000429015.1, ENST00000520552.5
    Conserved Domains (2) summary
    cd00204
    Location:15128
    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:1542
    ANK; ANK repeat [structural motif]
  4. NM_198401.4NP_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
    Q86W74
    UniProtKB/TrEMBL
    A0A024R9E1
    Related
    ENSP00000430056.1, ENST00000519597.5
    Conserved Domains (2) summary
    sd00045
    Location:1542
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:16105
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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