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

Gene ID: 22852, updated on 27-Nov-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
  • 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. Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree. Trizuljak J, et al. Platelets, 2024 Dec. PMID 39212265
  2. 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
  3. A novel nucleotide substitution in the 5' untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families. Diep RT, et al. Ann Hematol, 2019 Jul. PMID 30747248
  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. 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

See all (77) 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
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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)

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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