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    ANKRD24 ankyrin repeat domain 24 [ Homo sapiens (human) ]

    Gene ID: 170961, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ANKRD24provided by HGNC
    Official Full Name
    ankyrin repeat domain 24provided by HGNC
    Primary source
    HGNC:HGNC:29424
    See related
    Ensembl:ENSG00000089847 MIM:620234; AllianceGenome:HGNC:29424
    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
    Summary
    Predicted to be involved in auditory receptor cell stereocilium organization and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be part of stereocilium. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 3.5), testis (RPKM 2.5) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD24 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4182689..4224814)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4165992..4208117)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4182686..4224811)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene cAMP responsive element binding protein 3 like 3 Neighboring gene Sharpr-MPRA regulatory region 11650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13760 Neighboring gene sirtuin 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13761 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4199326-4199972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:4199973-4200619 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:4204935-4205148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4216177-4216676 Neighboring gene MPRA-validated peak3273 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13762 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:4230793-4231294 Neighboring gene MPRA-validated peak3276 silencer Neighboring gene Epstein-Barr virus induced 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13764 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:4246137-4246908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13766 Neighboring gene YJU2 splicing factor homolog

    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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    Related articles in PubMed

    1. ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points. Krey JF, et al. J Cell Biol, 2022 Apr 4. PMID 35175278, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
    3. A human MAP kinase interactome. Bandyopadhyay S, et al. Nat Methods, 2010 Oct. PMID 20936779, Free PMC Article
    4. Protein interactome reveals converging molecular pathways among autism disorders. Sakai Y, et al. Sci Transl Med, 2011 Jun 8. PMID 21653829, Free PMC Article
    5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points.
      Title: ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points.
    Submit: New GeneRIF Correction

    Phenotypes

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    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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    Homology

    Clone Names

    • KIAA1981

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in auditory receptor cell stereocilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 24

    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_001393552.1 → NP_001380481.1  ankyrin repeat domain-containing protein 24 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC005578, AC006930
      Conserved Domains (5) summary
      COG0666
      Location:110 → 246
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      COG1196
      Location:331 → 1113
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:765 → 1109
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00045
      Location:147 → 187
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:223 → 275
      Ank_4; Ankyrin repeats (many copies)

    2. NM_001393553.1 → NP_001380482.1  ankyrin repeat domain-containing protein 24 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC005578, AC006930
      Consensus CDS
      CCDS45925.1
      UniProtKB/Swiss-Prot
      O75268, O95781, Q8TF21
      Conserved Domains (3) summary
      TIGR02168
      Location:324 → 1100
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00045
      Location:115 → 145
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:119 → 211
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_001393555.1 → NP_001380484.1  ankyrin repeat domain-containing protein 24 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC005578, AC006930
      Conserved Domains (5) summary
      COG0666
      Location:81 → 208
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      COG1196
      Location:293 → 1075
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:727 → 1071
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00045
      Location:86 → 116
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:185 → 237
      Ank_4; Ankyrin repeats (many copies)

    4. NM_001393556.1 → NP_001380485.1  ankyrin repeat domain-containing protein 24 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC005578, AC006930
      Related
      ENSP00000262970.4, ENST00000262970.9
      Conserved Domains (5) summary
      COG0666
      Location:82 → 209
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      COG1196
      Location:294 → 1076
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:728 → 1072
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00045
      Location:87 → 117
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:186 → 238
      Ank_4; Ankyrin repeats (many copies)

    5. NM_001393557.1 → NP_001380486.1  ankyrin repeat domain-containing protein 24 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC005578, AC006930
      Conserved Domains (5) summary
      COG0666
      Location:94 → 221
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      COG1196
      Location:306 → 1088
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:740 → 1084
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00045
      Location:99 → 129
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:198 → 250
      Ank_4; Ankyrin repeats (many copies)

    6. NM_001393985.1 → NP_001380914.1  ankyrin repeat domain-containing protein 24 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC005578, AC006930
      Consensus CDS
      CCDS45925.1
      UniProtKB/Swiss-Prot
      O75268, O95781, Q8TF21
      Related
      ENSP00000321731.4, ENST00000318934.9
      Conserved Domains (3) summary
      TIGR02168
      Location:324 → 1100
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00045
      Location:115 → 145
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:119 → 211
      Ank_2; Ankyrin repeats (3 copies)

    7. NM_133475.1 → NP_597732.1  ankyrin repeat domain-containing protein 24 isoform b

      See identical proteins and their annotated locations for NP_597732.1

      Status: VALIDATED

      Source sequence(s)
      AB075861, AC005578, BI914435, BX117359, BX359277, CN286920
      Consensus CDS
      CCDS45925.1
      UniProtKB/Swiss-Prot
      O75268, O95781, Q8TF21
      Related
      ENSP00000471252.1, ENST00000600132.5
      Conserved Domains (3) summary
      TIGR02168
      Location:324 → 1100
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00045
      Location:115 → 145
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:119 → 211
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      4182689..4224814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527761.2 → XP_011526063.1  ankyrin repeat domain-containing protein 24 isoform X4

      See identical proteins and their annotated locations for XP_011526063.1

      Conserved Domains (7) summary
      cd00204
      Location:115 → 243
      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 ...
      pfam04094
      Location:567 → 981
      DUF390; Protein of unknown function (DUF390)
      pfam12796
      Location:119 → 253
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:147 → 187
      ANK; ANK repeat [structural motif]
      cl02219
      Location:1093 → 1170
      Bap31; B-cell receptor-associated protein 31-like
      cl23720
      Location:1047 → 1135
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
      cl23750
      Location:864 → 969
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    2. XM_011527756.3 → XP_011526058.2  ankyrin repeat domain-containing protein 24 isoform X2

    3. XM_011527758.3 → XP_011526060.2  ankyrin repeat domain-containing protein 24 isoform X3

    4. XM_017026438.2 → XP_016881927.1  ankyrin repeat domain-containing protein 24 isoform X4

      Conserved Domains (7) summary
      cd00204
      Location:115 → 243
      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 ...
      pfam04094
      Location:567 → 981
      DUF390; Protein of unknown function (DUF390)
      pfam12796
      Location:119 → 253
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:147 → 187
      ANK; ANK repeat [structural motif]
      cl02219
      Location:1093 → 1170
      Bap31; B-cell receptor-associated protein 31-like
      cl23720
      Location:1047 → 1135
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
      cl23750
      Location:864 → 969
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    5. XM_024451405.2 → XP_024307173.2  ankyrin repeat domain-containing protein 24 isoform X1

    6. XM_011527764.4 → XP_011526066.2  ankyrin repeat domain-containing protein 24 isoform X5

    7. XM_011527765.3 → XP_011526067.1  ankyrin repeat domain-containing protein 24 isoform X6

      Conserved Domains (7) summary
      cd00204
      Location:87 → 215
      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 ...
      pfam04094
      Location:539 → 953
      DUF390; Protein of unknown function (DUF390)
      pfam07989
      Location:1098 → 1150
      Cnn_1N; Centrosomin N-terminal motif 1
      pfam12796
      Location:91 → 225
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:119 → 159
      ANK; ANK repeat [structural motif]
      cl23720
      Location:1019 → 1107
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
      cl23750
      Location:836 → 941
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    8. XM_047438378.1 → XP_047294334.1  ankyrin repeat domain-containing protein 24 isoform X7

    9. XM_017026441.2 → XP_016881930.1  ankyrin repeat domain-containing protein 24 isoform X8

    10. XM_011527768.3 → XP_011526070.1  ankyrin repeat domain-containing protein 24 isoform X9

      Conserved Domains (1) summary
      cl02219
      Location:674 → 751
      Bap31; B-cell receptor-associated protein 31-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      4165992..4208117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320128.1 → XP_054176103.1  ankyrin repeat domain-containing protein 24 isoform X4

    2. XM_054320126.1 → XP_054176101.1  ankyrin repeat domain-containing protein 24 isoform X2

    3. XM_054320127.1 → XP_054176102.1  ankyrin repeat domain-containing protein 24 isoform X3

    4. XM_054320129.1 → XP_054176104.1  ankyrin repeat domain-containing protein 24 isoform X4

    5. XM_054320125.1 → XP_054176100.1  ankyrin repeat domain-containing protein 24 isoform X1

    6. XM_054320130.1 → XP_054176105.1  ankyrin repeat domain-containing protein 24 isoform X5

    7. XM_054320131.1 → XP_054176106.1  ankyrin repeat domain-containing protein 24 isoform X6

    8. XM_054320132.1 → XP_054176107.1  ankyrin repeat domain-containing protein 24 isoform X7

    9. XM_054320133.1 → XP_054176108.1  ankyrin repeat domain-containing protein 24 isoform X8

    10. XM_054320134.1 → XP_054176109.1  ankyrin repeat domain-containing protein 24 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF21.2 GenPept UniProtKB/Swiss-Prot:Q8TF21

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