ANKRD26 - ankyrin repeat domain containing 26 Gene

Also Known as THC2; bA145E8.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22852

About ANKRD26

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:26,947,582-27,100,494 (from NCBI)

This gene has 19 transcripts (splice variants), 236 orthologues, 7 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 3.2), brain (RPKM 0.7) and 22 other tissues.

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]

ANKRD26 Products (2)

mRNA	Protein	Name
NM_001256053.2	NP_001242982.1	ankyrin repeat domain-containing protein 26 isoform 2
NM_014915.3	NP_055730.2	ankyrin repeat domain-containing protein 26 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22666460	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKRD26 Protein Structure

Ank_2

Ank

CCDC144C

DUF3496

0
300
600
900
1200
1500
1710 a.a.

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

Related Diseases

Diseases	Alias
Thrombocytopenia 2	THC2 Thrombocytopenia, Autosomal Dominant, 2 Thrombocytopenia Autosomal Dominant 2 Thrombocytopenia-2
Autosomal Thrombocytopenia With Normal Platelets
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Blood Platelet Disease	Platelet Disorder Blood Platelet Disorders Thrombocytopathy Platelet Dysfunction Platelet Disorders Qualitative Platelet Deficiency
Platelet Disorder, Familial, With Associated Myeloid Malignancy	FPDMM Fpd/Aml Familial Platelet Disorder With Associated Myeloid Malignancy Platelet Disorder, Aspirin-Like Fps/Aml Familial Platelet Disorder With Predisposition To Acute Myelogenous Leukemia Familial Platelet Disorder With Predisposition To Myeloid Malignancy Familial Platelet Disorder With Propensity To Acute Myeloid Leukemia Familial Thrombocytopenia With Propensity To Acute Myelogenous Leukemia Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia Asprin-Like Platelet Disorder Fpd/Aml Syndrome Fps/Aml Syndrome Familial Platelet Syndrome With Predisposition To Acute Myelogenous Leukemia Hereditary Thrombocytopenia With Normal Platelets-Hematological Cancer Predisposition Syndrome Runx1 Fpd/Aml
Ankrd26-Related Thrombocytopenia	Thrombocytopenia 2 Thc2
Myh-9 Related Disease	Myh9-Related Disease Myh9-Rd Myh9-Related Disorder Myh9-Related Syndrome Myh9-Related Syndromic Thrombocytopenia Sebastian Syndrome
Diamond-Blackfan Anemia 11	DBA11 Rpl26-Related Diamond-Blackfan Anemia Anemia, Diamond-Blackfan, Type 11
Amegakaryocytic Thrombocytopenia, Congenital	Congenital Amegakaryocytic Thrombocytopenia CAMT Thrombocytopenia, Congenital Amegakaryocytic Congenital Amegakaryocytic Thrombocytopenic Purpura Thrombocytopenia Congenital Amegakaryocytic Thrombocytopenia, Amegakaryocytic, Congenital
Acquired Thrombocytopenia	Secondary Thrombocytopenia
Qualitative Platelet Defect	Qualitative Platelet Defects Qualitative Platelet Deficiency Thrombocytopathy Platelet Defect Platelet Disorder Thrombopathy Platelet Granule Defect Thrombocytasthenia Thromboasthenia Dystrophic Thrombocytopathy Haemorrhagic Thrombasthenia Granulopenic Thrombocytopathy
Pseudo-Von Willebrand Disease	Bdplt3 Von Willebrand Disease, Platelet-Type VWDP Platelet-Type Bleeding Disorder 3 Platelet Type-Von Willebrand Disease Pt-Vwd Von Willebrand Disease Platelet-Type Von Willebrand Disease, Platelet Type Pseudo Von Willebrand Disease Bleeding Disorder, Platelet-Type, 3 Pseudo-Von Willebrand Disease Type 2b Bleeding Disorder Platelet-Type 3 Pseudo-Vwd
Immunodeficiency 21	Monocytopenia And Mycobacterial Infection Syndrome Monomac Gata2 Deficiency Monocytopenia With Susceptibility To Infections Dcml IMD21 Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections Monocyte - B - Natural Killer - Dendritic Cell Deficiency Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia
Bernard-Soulier Syndrome	Giant Platelet Syndrome BSS Von Willebrand Factor Receptor Deficiency Bdplt1 Platelet Glycoprotein Ib Deficiency Bernard-Soulier Syndrome, Type A1 Bernard-Soulier Syndrome, Type B Bernard Soulier Syndrome Deficiency Of Platelet Glycoprotein 1b Hemorrhagiparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type C Bleeding Disorder, Platelet-Type, 1 Glycoprotein Ib, Platelet, Deficiency Of Giant Platelet Disorder, Isolated Giant Platelet Disease Macrothrombocytopenia, Familial Bernard-Soulier Type Bernard-Soulier Syndrome, Type C Bernard - Soulier Thrombopathy Hemorrhagic Dystrophic Thrombocytopenia Thrombopathy, Bernard-Soulier Platelet Glycoprotein 1b, Deficiency Of Hemorrhagioparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type A1 Bernard-Soulier Syndrome Type B Bleeding Disorder Platelet-Type 1 Gpd Macrothrombocytopenia, Familial, Bernard-Soulier Type
Thrombocytopenia-Absent Radius Syndrome	Tar Syndrome Radial Aplasia-Thrombocytopenia Syndrome Absent Radii And Thrombocytopenia TAR Chromosome 1q21.1 Deletion Syndrome, 200-Kb Thrombocytopenia Absent Radius Syndrome Thrombocytopenia Absent Radii Chromosome 1q21.1 Deletion Syndrome Thrombocytopenia With Absent Radii Syndrome Radial Aplasia-Amegakaryocytic Thrombocytopenia
Thrombocytopenia Due To Platelet Alloimmunization	Immune Thrombocytopenia Autoimmune Thrombocytopenia Immune Thrombocytopenic Purpura Itp Auto-Immune Thrombocytopenia Thrombocytopenia Due To Immune Destruction Autoimmune Thrombocytopenic Purpura Idiopathic Thrombocytopenic Purpura Werlhof Disease
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Stormorken Syndrome	Thrombocytopathy, Asplenia, And Miosis Stormorken-Sjaastad-Langslet Syndrome STRMK York Platelet Syndrome Yps Thrombocytopathy, Asplenia And Miosis Thrombocytopathy Asplenia Miosis Thrombocytopathy-Asplenia-Miosis Syndrome Miosis Disorder
Glanzmann Thrombasthenia 1	Glanzmann Thrombasthenia Thrombasthenia Of Glanzmann And Naegeli Glanzmann'S Thrombasthenia Bdplt2 Platelet Glycoprotein Iib-Iiia Deficiency Deficiency Of Platelet Fibrinogen Receptor GT1 Gt Platelet Fibrinogen Receptor Deficiency Glycoprotein Complex Iib-Iiia Deficiency Deficiency Of Glycoprotein Complex Iib-Iiia Glycoprotein Iib/Iiia Defect Glanzmann Thrombasthenia, Type A Thrombasthenia Bleeding Disorder, Platelet-Type, 2 Gp Iib-Iiia Complex Deficiency Deficiency Of Gp Iib-Iiia Complex Platelet-Type Bleeding Disorder 2 Thrombocytasthenia Deficiency Of Gp 2b 3a Complex Diacyclothrombopathia 2b 3a Glanzmann Thrombasthenia Type A Platelet Fibrinogen Receptor, Deficiency Of Platelet Glycoprotein 2b 3a Deficiency Glanzmann Disease Glanzmann-Naegeli Disorder Hereditary Hemorrhagic Thrombasthenia Hereditary Thrombasthenia Bleeding Disorder Platelet-Type 2
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00719	ANKRD26 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ANKRD26	RGD	RGD:1310736
Macaca mulatta	ANKRD26	VGNC	VGNC:81358
Mus musculus	ANKRD26	MGD	MGI:1917887
Others	ANKRD26	NCBI