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

Gene ID: 157567, updated on 7-Apr-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
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Genomic context

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Location:
8q22.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (100509752..100559759, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (101635790..101685789, complement)
105.20220307 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 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
  2. Identification of altered gene expression in skeletal muscles from Duchenne muscular dystrophy patients. Tkatchenko AV, et al. Neuromuscul Disord, 2001 Apr. PMID 11297942
  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 (23) 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)

Genotypes

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

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_2023_10

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

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