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    ANKRD26 ankyrin repeat domain containing 26 [ Homo sapiens (human) ]

    Gene ID: 22852, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ANKRD26provided by HGNC
    Official Full Name
    ankyrin repeat domain containing 26provided by HGNC
    Primary source
    HGNC:HGNC:29186
    See related
    Ensembl:ENSG00000107890 MIM:610855; AllianceGenome:HGNC:29186
    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
    THC2; bA145E8.1
    Summary
    This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Broad expression in testis (RPKM 3.2), brain (RPKM 0.7) and 22 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ANKRD26 in Genome Data Viewer
    Location:
    10p12.1
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (26947582..27100494, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (26977274..27130615, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27293045..27389423, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902398 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:27182897-27183512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:27183513-27184128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3177 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11703 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11711 Neighboring gene family with sequence similarity 238 member C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3178 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:27361449-27361982 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2243 Neighboring gene RNA, U6 small nuclear 490, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11825 Neighboring gene YME1 like 1 ATPase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3180 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:27444170-27444368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3181 Neighboring gene microtubule associated serine/threonine kinase like Neighboring gene acyl-CoA binding domain containing 5

    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. Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family. Perez Botero J, et al. Platelets, 2016 Nov. PMID 27123948
    2. Relation between mutations in the 5' UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study. Zidan NI, et al. Platelets, 2021 Jul 4. PMID 32659145
    3. Epigenetic silencing of the ANKRD26 gene correlates to the pro-inflammatory profile and increased cardio-metabolic risk factors in human obesity. Desiderio A, et al. Clin Epigenetics, 2019 Dec 4. PMID 31801613, Free PMC Article
    4. Successful management of a pregnant woman with severe ANKRD26-related thrombocytopenia and anti-HPA-5b alloimmunization. Lazaro E, et al. Platelets, 2020 Aug 17. PMID 31607198
    5. High-resolution characterization of centriole distal appendage morphology and dynamics by correlative STORM and electron microscopy. Bowler M, et al. Nat Commun, 2019 Mar 1. PMID 30824690, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.
      Title: Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.
    2. Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.
      Title: Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.
    3. Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.
      Title: Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.
    4. Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations.
      Title: Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations.
    5. Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.
      Title: Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.
    6. ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms.
      Title: ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms.
    7. Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.
      Title: Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.
    8. Relation between mutations in the 5' UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study.
      Title: Relation between mutations in the 5' UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study.
    9. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
      Title: Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
    10. A novel RUNX1 mutation with ANKRD26 dysregulation is related to thrombocytopenia in a sporadic form of myelodysplastic syndrome.
      Title: A novel RUNX1 mutation with ANKRD26 dysregulation is related to thrombocytopenia in a sporadic form of myelodysplastic syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    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

    Associated conditions

    Description Tests
    Thrombocytopenia 2
    MedGen: C1861185 OMIM: 188000 GeneReviews: ANKRD26-Related Thrombocytopenia
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2023-10-10)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2023-10-10)

    ClinGen Genome Curation Page

    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

    Clone Names

    • KIAA1074, MGC163325

    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 negative regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 26
    Names
    GNS/ANKRD26/NCKAP1L fusion
    ankyrin repeat domain 26

    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.

    Genomic

    1. NG_031973.2 RefSeqGene

      Range
      5001..101383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_605

    mRNA and Protein(s)

    1. NM_001256053.2 → NP_001242982.1  ankyrin repeat domain-containing protein 26 isoform 2

      See identical proteins and their annotated locations for NP_001242982.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AB028997, AL162272
      Consensus CDS
      CCDS91225.1
      UniProtKB/TrEMBL
      A1L497, E7ESJ3
      Related
      ENSP00000405112.3, ENST00000436985.7
      Conserved Domains (7) summary
      COG0419
      Location:1067 → 1586
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00204
      Location:74 → 199
      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 ...
      pfam12001
      Location:1522 → 1630
      DUF3496; Domain of unknown function (DUF3496)
      pfam12796
      Location:84 → 176
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:50 → 100
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:913 → 1216
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:79 → 110
      ANK; ANK repeat [structural motif]

    2. NM_014915.3 → NP_055730.2  ankyrin repeat domain-containing protein 26 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AB028997, AK001137, AL137351, CD626319, DA712092, DB228067
      Consensus CDS
      CCDS41499.1
      UniProtKB/Swiss-Prot
      A6NH29, Q2TAZ3, Q6ZR14, Q9H1Q1, Q9NSK9, Q9NTD5, Q9NW69, Q9UPS8
      UniProtKB/TrEMBL
      A1L497
      Related
      ENSP00000365255.4, ENST00000376087.5
      Conserved Domains (6) summary
      cd00204
      Location:74 → 199
      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:79 → 110
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:1523 → 1631
      DUF3496; Domain of unknown function (DUF3496)
      pfam14915
      Location:914 → 1217
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:754 → 1586
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26072
      Location:129 → 282
      Ank_5; 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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      26947582..27100494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015929.2 → XP_016871418.1  ankyrin repeat domain-containing protein 26 isoform X2

    2. XM_047424821.1 → XP_047280777.1  ankyrin repeat domain-containing protein 26 isoform X1

    3. XM_017015928.2 → XP_016871417.1  ankyrin repeat domain-containing protein 26 isoform X1

    4. XM_047424822.1 → XP_047280778.1  ankyrin repeat domain-containing protein 26 isoform X1

    5. XM_047424825.1 → XP_047280781.1  ankyrin repeat domain-containing protein 26 isoform X5

    6. XM_011519416.3 → XP_011517718.1  ankyrin repeat domain-containing protein 26 isoform X5

      See identical proteins and their annotated locations for XP_011517718.1

      Conserved Domains (7) summary
      cd00204
      Location:74 → 199
      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 ...
      pfam12001
      Location:1885 → 1993
      DUF3496; Domain of unknown function (DUF3496)
      pfam12796
      Location:84 → 176
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:50 → 100
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:1276 → 1579
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:79 → 110
      ANK; ANK repeat [structural motif]
      cl02488
      Location:1544 → 1741
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    7. XM_047424832.1 → XP_047280788.1  ankyrin repeat domain-containing protein 26 isoform X12

    8. XM_047424830.1 → XP_047280786.1  ankyrin repeat domain-containing protein 26 isoform X10

    9. XM_047424828.1 → XP_047280784.1  ankyrin repeat domain-containing protein 26 isoform X9

    10. XM_017015932.2 → XP_016871421.1  ankyrin repeat domain-containing protein 26 isoform X6

      UniProtKB/TrEMBL
      A1L497
      Conserved Domains (7) summary
      cd00204
      Location:74 → 199
      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 ...
      pfam12001
      Location:1885 → 1993
      DUF3496; Domain of unknown function (DUF3496)
      pfam12796
      Location:84 → 176
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:50 → 100
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:1276 → 1579
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:79 → 110
      ANK; ANK repeat [structural motif]
      cl02488
      Location:1544 → 1741
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    11. XM_006717425.5 → XP_006717488.1  ankyrin repeat domain-containing protein 26 isoform X6

      UniProtKB/TrEMBL
      A1L497
      Conserved Domains (7) summary
      cd00204
      Location:74 → 199
      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 ...
      pfam12001
      Location:1885 → 1993
      DUF3496; Domain of unknown function (DUF3496)
      pfam12796
      Location:84 → 176
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:50 → 100
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:1276 → 1579
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:79 → 110
      ANK; ANK repeat [structural motif]
      cl02488
      Location:1544 → 1741
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    12. XM_047424827.1 → XP_047280783.1  ankyrin repeat domain-containing protein 26 isoform X8

    13. XM_047424824.1 → XP_047280780.1  ankyrin repeat domain-containing protein 26 isoform X4

    14. XM_047424826.1 → XP_047280782.1  ankyrin repeat domain-containing protein 26 isoform X7

    15. XM_006717423.3 → XP_006717486.1  ankyrin repeat domain-containing protein 26 isoform X3

      UniProtKB/TrEMBL
      A1L497
      Conserved Domains (7) summary
      cd00204
      Location:74 → 199
      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 ...
      pfam12001
      Location:1885 → 1993
      DUF3496; Domain of unknown function (DUF3496)
      pfam12796
      Location:84 → 176
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:50 → 100
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:1276 → 1579
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:79 → 110
      ANK; ANK repeat [structural motif]
      cl02488
      Location:1544 → 1741
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    16. XM_047424831.1 → XP_047280787.1  ankyrin repeat domain-containing protein 26 isoform X11

    17. XM_047424833.1 → XP_047280789.1  ankyrin repeat domain-containing protein 26 isoform X13

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      26977274..27130615 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365197.1 → XP_054221172.1  ankyrin repeat domain-containing protein 26 isoform X1

    2. XM_054365195.1 → XP_054221170.1  ankyrin repeat domain-containing protein 26 isoform X1

    3. XM_054365199.1 → XP_054221174.1  ankyrin repeat domain-containing protein 26 isoform X2

    4. XM_054365198.1 → XP_054221173.1  ankyrin repeat domain-containing protein 26 isoform X14

    5. XM_054365205.1 → XP_054221180.1  ankyrin repeat domain-containing protein 26 isoform X15

    6. XM_054365196.1 → XP_054221171.1  ankyrin repeat domain-containing protein 26 isoform X1

    7. XM_054365206.1 → XP_054221181.1  ankyrin repeat domain-containing protein 26 isoform X16

    8. XM_054365209.1 → XP_054221184.1  ankyrin repeat domain-containing protein 26 isoform X18

    9. XM_054365208.1 → XP_054221183.1  ankyrin repeat domain-containing protein 26 isoform X17

    10. XM_054365218.1 → XP_054221193.1  ankyrin repeat domain-containing protein 26 isoform X23

    11. XM_054365213.1 → XP_054221188.1  ankyrin repeat domain-containing protein 26 isoform X22

    12. XM_054365212.1 → XP_054221187.1  ankyrin repeat domain-containing protein 26 isoform X21

    13. XM_054365211.1 → XP_054221186.1  ankyrin repeat domain-containing protein 26 isoform X20

    14. XM_054365210.1 → XP_054221185.1  ankyrin repeat domain-containing protein 26 isoform X19

    15. XM_054365221.1 → XP_054221196.1  ankyrin repeat domain-containing protein 26 isoform X25

    16. XM_054365220.1 → XP_054221195.1  ankyrin repeat domain-containing protein 26 isoform X24

    17. XM_054365222.1 → XP_054221197.1  ankyrin repeat domain-containing protein 26 isoform X26

    18. XM_054365202.1 → XP_054221177.1  ankyrin repeat domain-containing protein 26 isoform X5

    19. XM_054365219.1 → XP_054221194.1  ankyrin repeat domain-containing protein 26 isoform X12

    20. XM_054365216.1 → XP_054221191.1  ankyrin repeat domain-containing protein 26 isoform X10

    21. XM_054365215.1 → XP_054221190.1  ankyrin repeat domain-containing protein 26 isoform X9

    22. XM_054365203.1 → XP_054221178.1  ankyrin repeat domain-containing protein 26 isoform X6

    23. XM_054365204.1 → XP_054221179.1  ankyrin repeat domain-containing protein 26 isoform X6

    24. XM_054365214.1 → XP_054221189.1  ankyrin repeat domain-containing protein 26 isoform X8

    25. XM_054365201.1 → XP_054221176.1  ankyrin repeat domain-containing protein 26 isoform X4

    26. XM_054365207.1 → XP_054221182.1  ankyrin repeat domain-containing protein 26 isoform X7

    27. XM_054365200.1 → XP_054221175.1  ankyrin repeat domain-containing protein 26 isoform X3

    28. XM_054365217.1 → XP_054221192.1  ankyrin repeat domain-containing protein 26 isoform X11

    29. XM_054365223.1 → XP_054221198.1  ankyrin repeat domain-containing protein 26 isoform X13

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPS8.4 GenPept UniProtKB/Swiss-Prot:Q9UPS8

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