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... See more...

Aliases for ANKRD26 Gene

Aliases for ANKRD26 Gene

  • Ankyrin Repeat Domain 26 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 26 3 4
  • Thrombocytopenia 2 (Autosomal Dominant) 2
  • GNS/ANKRD26/NCKAP1L Fusion 3
  • BA145E8.1 3
  • KIAA1074 4
  • THC2 3

External Ids for ANKRD26 Gene

Previous HGNC Symbols for ANKRD26 Gene

  • THC2

Previous GeneCards Identifiers for ANKRD26 Gene

  • GC10M027298
  • GC10M027297
  • GC10M027334
  • GC10M027280

Summaries for ANKRD26 Gene

Entrez Gene Summary for ANKRD26 Gene

  • 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]

GeneCards Summary for ANKRD26 Gene

ANKRD26 (Ankyrin Repeat Domain 26) is a Protein Coding gene. Diseases associated with ANKRD26 include Thrombocytopenia 2 and Platelet Disorder, Familial, With Associated Myeloid Malignancy. Gene Ontology (GO) annotations related to this gene include transferase activity and cofactor binding. An important paralog of this gene is ANKRD62.

UniProtKB/Swiss-Prot Summary for ANKRD26 Gene

  • Acts as a regulator of adipogenesis. Involved in the regulation of the feeding behavior.

Gene Wiki entry for ANKRD26 Gene

Additional gene information for ANKRD26 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD26 Gene

Genomics for ANKRD26 Gene

GeneHancer (GH) Regulatory Elements for ANKRD26 Gene

Promoters and enhancers for ANKRD26 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J027099 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 772.1 +0.1 127 2.7 ZBTB40 ZBTB6 RBPJ POLR2A ZNF701 L3MBTL2 MAX ZBTB33 NKRF GTF2F1 ANKRD26 lnc-MASTL-5 MASTL YME1L1 FAM238C piR-53918
GH10J027152 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.9 -54.3 -54303 5.6 E2F8 SIN3A SP1 ZBTB40 CTCF SIX5 FOXA1 RBPJ POLR2A ATF1 MASTL YME1L1 ANKRD26 SELENOOLP FAM238C LRRC37A6P piR-32214-043
GH10J027238 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -141.0 -141037 5.3 PPP1R10 SIN3A ZBTB40 CTCF SIX5 ZBTB6 FOXA1 SMARCE1 POLR2A HDAC2 ACBD5 ENSG00000262412 MASTL ANKRD26 ABI1 YME1L1 RNU7-12P RF00066-021
GH10J027997 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 10.7 -898.2 -898203 2.2 ZNF121 BCL6B SP7 PRDM1 MCM2 ZNF560 KLF14 GLIS2 ZIC2 ZBTB8A ARMC4 ENSG00000233472 MASTL ANKRD26 NONHSAG005473.2
GH10J027228 Enhancer 0.4 Ensembl dbSUPER 12.1 -126.4 -126402 1.8 ZNF362 MASTL YME1L1 FAM238C ANKRD26 ARMC4P1 RNU7-12P RF00066-021 ACBD5 RNU2-24P RF00004-014
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD26 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD26 gene promoter:
  • CUTL1
  • E47
  • Egr-1
  • GATA-1
  • Hlf
  • Meis-1
  • Meis-1a
  • Meis-1b
  • ZID

Genomic Locations for ANKRD26 Gene

Genomic Locations for ANKRD26 Gene
chr10:26,966,584-27,100,498
(GRCh38/hg38)
Size:
133,915 bases
Orientation:
Minus strand
chr10:27,280,843-27,389,427
(GRCh37/hg19)
Size:
108,585 bases
Orientation:
Minus strand

Genomic View for ANKRD26 Gene

Genes around ANKRD26 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD26 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD26 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD26 Gene

Proteins for ANKRD26 Gene

  • Protein details for ANKRD26 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPS8-ANR26_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 26
    Protein Accession:
    Q9UPS8
    Secondary Accessions:
    • A6NH29
    • Q2TAZ3
    • Q6ZR14
    • Q9H1Q1
    • Q9NSK9
    • Q9NTD5
    • Q9NW69

    Protein attributes for ANKRD26 Gene

    Size:
    1710 amino acids
    Molecular mass:
    196411 Da
    Quaternary structure:
    • Interacts with TRIO (PubMed:22666460). Interacts with GPS2 (PubMed:22666460). Interacts with CCDC85B (PubMed:22666460). Interacts with HMMR (PubMed:22666460).
    SequenceCaution:
    • Sequence=BAA83026.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKRD26 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD26 Gene

Post-translational modifications for ANKRD26 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD26 Gene

Domains & Families for ANKRD26 Gene

Gene Families for ANKRD26 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ANKRD26 Gene

GenScript: Design optimal peptide antigens:
  • ANKRD26 protein (A1L497_HUMAN)
  • Ankyrin repeat domain-containing protein 26 (ANR26_HUMAN)
genes like me logo Genes that share domains with ANKRD26: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD26 Gene

Function for ANKRD26 Gene

Molecular function for ANKRD26 Gene

UniProtKB/Swiss-Prot Function:
Acts as a regulator of adipogenesis. Involved in the regulation of the feeding behavior.

Phenotypes From GWAS Catalog for ANKRD26 Gene

Gene Ontology (GO) - Molecular Function for ANKRD26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22666460
genes like me logo Genes that share ontologies with ANKRD26: view
genes like me logo Genes that share phenotypes with ANKRD26: view

Human Phenotype Ontology for ANKRD26 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD26 Gene

Localization for ANKRD26 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKRD26 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRD26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 21399614
genes like me logo Genes that share ontologies with ANKRD26: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANKRD26 Gene

Pathways & Interactions for ANKRD26 Gene

PathCards logo

SuperPathways for ANKRD26 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045599 negative regulation of fat cell differentiation ISS --
genes like me logo Genes that share ontologies with ANKRD26: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD26 Gene

Drugs & Compounds for ANKRD26 Gene

No Compound Related Data Available

Transcripts for ANKRD26 Gene

mRNA/cDNA for ANKRD26 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD26 Gene

No ASD Table

Relevant External Links for ANKRD26 Gene

GeneLoc Exon Structure for
ANKRD26
ECgene alternative splicing isoforms for
ANKRD26

Expression for ANKRD26 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRD26 Gene

Protein differential expression in normal tissues from HIPED for ANKRD26 Gene

This gene is overexpressed in Colon (12.9), Testis (12.2), Bone marrow stromal cell (9.9), and Prostate (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD26 Gene



NURSA nuclear receptor signaling pathways regulating expression of ANKRD26 Gene:

ANKRD26

SOURCE GeneReport for Unigene cluster for ANKRD26 Gene:

Hs.361041

Evidence on tissue expression from TISSUES for ANKRD26 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD26 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • skeleton
Regions:
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with ANKRD26: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ANKRD26 Gene

Orthologs for ANKRD26 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD26 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD26 33 32
  • 99.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD26 33 33 32
  • 81.03 (n)
OneToMany
-- 33
  • 66 (a)
OneToMany
-- 33
  • 62 (a)
OneToMany
-- 33
  • 61 (a)
OneToMany
-- 33
  • 60 (a)
OneToMany
-- 33
  • 57 (a)
OneToMany
-- 33
  • 54 (a)
OneToMany
-- 33
  • 40 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ANKRD26 32
  • 76.73 (n)
-- 33
  • 63 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ankrd26 17 33 32
  • 73.14 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd26 32
  • 72.16 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 40 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 34 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 33
  • 34 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 39 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ANKRD7 33
  • 28 (a)
OneToMany
Dr.26488 32
Species where no ortholog for ANKRD26 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKRD26 Gene

ENSEMBL:
Gene Tree for ANKRD26 (if available)
TreeFam:
Gene Tree for ANKRD26 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD26: view image

Paralogs for ANKRD26 Gene

(30) SIMAP similar genes for ANKRD26 Gene using alignment to 4 proteins:

  • ANR26_HUMAN
  • A1L497_HUMAN
  • E7ESJ3_HUMAN
  • H0Y4T9_HUMAN
genes like me logo Genes that share paralogs with ANKRD26: view

Variants for ANKRD26 Gene

Sequence variations from dbSNP and Humsavar for ANKRD26 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs10829158 likely-benign, Thrombocytopenia 27,004,415(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs10829163 benign, likely-benign, not specified, Thrombocytopenia, - 27,028,911(-) C/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs11015449 likely-benign, Thrombocytopenia 27,004,686(-) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs112091269 likely-benign, Thrombocytopenia 27,004,355(-) A/ 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs113123391 likely-benign, uncertain-significance, Thrombocytopenia 27,044,193(-) AAAAAAAAAAAA/AAAAAAAAAA/AAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD26 Gene

Variant ID Type Subtype PubMed ID
esv2664616 CNV deletion 23128226
esv2670516 CNV deletion 23128226
esv3622707 CNV gain 21293372
nsv1116452 OTHER inversion 24896259
nsv1145435 CNV deletion 24896259
nsv510988 OTHER complex 20534489

Variation tolerance for ANKRD26 Gene

Residual Variation Intolerance Score: 91.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.41; 88.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD26 Gene

Human Gene Mutation Database (HGMD)
ANKRD26
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD26

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD26 Gene

Disorders for ANKRD26 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ANKRD26 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ANR26_HUMAN
  • Thrombocytopenia 2 (THC2) [MIM:188000]: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. {ECO:0000269 PubMed:21211618}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ANKRD26

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANKRD26: view

No data available for Genatlas for ANKRD26 Gene

Publications for ANKRD26 Gene

  1. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. (PMID: 21211618) Pippucci T … Balduini CL (American journal of human genetics 2011) 2 3 4 56
  2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 56
  3. High-resolution characterization of centriole distal appendage morphology and dynamics by correlative STORM and electron microscopy. (PMID: 30824690) Bowler M … Loncarek J (Nature communications 2019) 2 3 56
  4. ANKRD26 and its interacting partners TRIO, GPS2, HMMR and DIPA regulate adipogenesis in 3T3-L1 cells. (PMID: 22666460) Liu XF … Pastan I (PloS one 2012) 3 4 56
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56

Products for ANKRD26 Gene

Sources for ANKRD26 Gene