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ANKRD7 ankyrin repeat domain 7 [ Homo sapiens (human) ]

Gene ID: 56311, updated on 2-Nov-2024

Summary

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Official Symbol
ANKRD7provided by HGNC
Official Full Name
ankyrin repeat domain 7provided by HGNC
Primary source
HGNC:HGNC:18588
See related
Ensembl:ENSG00000106013 MIM:610731; AllianceGenome:HGNC:18588
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
TSA806
Summary
Predicted to act upstream of or within blastocyst hatching. Located in centrosome and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 443.3) See more
Orthologs
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Genomic context

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See ANKRD7 in Genome Data Viewer
Location:
7q31.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (118224704..118242732)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (119540436..119558474)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117864758..117882786)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375470 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:117830912-117831127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26548 Neighboring gene LSM8 homolog, U6 small nuclear RNA associated Neighboring gene NANOG hESC enhancer GRCh37_chr7:117893129-117893637 Neighboring gene uncharacterized LOC102724495 Neighboring gene uncharacterized LOC124901815

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. ANKRD7 and CYTL1 are novel risk genes for alcohol drinking behavior. Chen XD, et al. Chin Med J (Engl), 2012 Mar. PMID 22613542, Free PMC Article
  2. Isolation of three testis-specific genes (TSA303, TSA806, TSA903) by a differential mRNA display method. Ozaki K, et al. Genomics, 1996 Sep 1. PMID 8812458
  3. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
  4. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  5. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

See all (9) 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

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

Potential readthrough

Included gene: LSM8

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 7
Names
testicular tissue protein Li 19
testis-specific ankyrin motif containing protein
testis-specific protein TSA806

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_019644.4 → NP_062618.2  ankyrin repeat domain-containing protein 7

    See identical proteins and their annotated locations for NP_062618.2

    Status: VALIDATED

    Source sequence(s)
    AA435914, AC004029, AI126287, AK302407
    Consensus CDS
    CCDS43638.1
    UniProtKB/Swiss-Prot
    B4DYF5, Q92527, Q96QN1, Q9UDM3
    UniProtKB/TrEMBL
    A0A140VJE5
    Related
    ENSP00000265224.4, ENST00000265224.9
    Conserved Domains (3) summary
    cd00204
    Location:53 → 178
    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:60 → 122
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:158 → 211
    Ank_4; Ankyrin repeats (many 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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    118224704..118242732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    119540436..119558474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001077708.1: Suppressed sequence

    Description
    NM_001077708.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92527.3 GenPept UniProtKB/Swiss-Prot:Q92527

Gene LinkOut

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