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    ANKRD49 ankyrin repeat domain 49 [ Homo sapiens (human) ]

    Gene ID: 54851, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANKRD49provided by HGNC
    Official Full Name
    ankyrin repeat domain 49provided by HGNC
    Primary source
    HGNC:HGNC:25970
    See related
    Ensembl:ENSG00000168876 MIM:619571; AllianceGenome:HGNC:25970
    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
    FGIF; GBIF
    Summary
    Involved in positive regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 11.3), bone marrow (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD49 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (94493984..94499578)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (94501024..94506618)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (94227150..94232744)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:94113450-94113647 Neighboring gene G protein-coupled receptor 83 Neighboring gene MRE11 homolog, double strand break repair nuclease Neighboring gene microRNA 548l Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:94245285-94245803 Neighboring gene chromosome 11 open reading frame 97 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:94278664-94279338 Neighboring gene PIWIL4 antisense RNA 1 Neighboring gene fucosyltransferase 4

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. these results suggest that ANKRD49 plays an important role in reducing intrinsic apoptosis of GC-1 cells by modulating the NF-kappaB signaling pathway.
      Title: ANKRD49 inhibits etoposide-induced intrinsic apoptosis of GC-1 cells by modulating NF-κB signaling.
    2. The results of the present study highlighted an important role of the ANKRD49 protein in the progression of gastric cancer. The ANKRD49 protein could act as a potential biomarker for prognosis evaluation of gastric cancer and may be used as a molecular target for gastric cancer treatment.
      Title: High expression of the ANKRD49 protein is associated with progression and poor prognosis of gastric cancer.
    3. The research findings implicate that ANKRD49 promotes the proliferation of human malignant glioma cells.
      Title: Up-regulation of ANKDR49, a poor prognostic factor, regulates cell proliferation of gliomas.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20189, FLJ20441

    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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IC
    Inferred by Curator
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 49
    Names
    fetal globin-inducing factor

    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_017704.3 → NP_060174.2  ankyrin repeat domain-containing protein 49

      See identical proteins and their annotated locations for NP_060174.2

      Status: VALIDATED

      Source sequence(s)
      AK057696, AL833977, AP000786, BC017798, BG025192
      Consensus CDS
      CCDS8300.1
      UniProtKB/Swiss-Prot
      Q8NDF2, Q8WVL7, Q96JE5, Q9NXK7
      Related
      ENSP00000440396.1, ENST00000544612.6
      Conserved Domains (3) summary
      sd00045
      Location:78 → 105
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:112 → 197
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:75 → 128
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      94493984..94499578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017941.2 → XP_016873430.1  ankyrin repeat domain-containing protein 49 isoform X1

      UniProtKB/Swiss-Prot
      Q8NDF2, Q8WVL7, Q96JE5, Q9NXK7
      Conserved Domains (3) summary
      sd00045
      Location:78 → 105
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:112 → 197
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:75 → 128
      Ank_4; Ankyrin repeats (many copies)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      94501024..94506618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369216.1 → XP_054225191.1  ankyrin repeat domain-containing protein 49 isoform X1

      UniProtKB/Swiss-Prot
      Q8NDF2, Q8WVL7, Q96JE5, Q9NXK7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVL7.1 GenPept UniProtKB/Swiss-Prot:Q8WVL7

    Gene LinkOut

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

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