Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	22852
Gene name	Ankyrin repeat domain containing 26
Gene symbol	ANKRD26
Synonyms (NCBI Gene)	THC2bA145E8.1
Chromosome	10
Chromosome location	10p12.1
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

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80097260	A>G	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, genic downstream transcript variant, coding sequence variant
rs863223318	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant
rs1554800065	G>C	Likely-pathogenic	5 prime UTR variant
rs1589257502	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1589393739	G>A,C	Uncertain-significance, likely-pathogenic	5 prime UTR variant
rs1589393759	G>A,C,T	Likely-pathogenic	5 prime UTR variant
rs1589393792	A>G	Pathogenic, likely-pathogenic	5 prime UTR variant
rs1589393799	T>A,C	Pathogenic, likely-pathogenic	5 prime UTR variant
rs1589393809	C>A,G,T	Pathogenic, likely-pathogenic	5 prime UTR variant

Show/Hide all (66)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049939	hsa-miR-30a-5p	CLASH	23622248
MIRT443245	hsa-miR-548n	PAR-CLIP	22100165
MIRT443244	hsa-miR-548az-5p	PAR-CLIP	22100165
MIRT443243	hsa-miR-548t-5p	PAR-CLIP	22100165
MIRT443242	hsa-miR-3133	PAR-CLIP	22100165
MIRT443241	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT443240	hsa-miR-548at-5p	PAR-CLIP	22100165
MIRT443239	hsa-miR-802	PAR-CLIP	22100165
MIRT443238	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT443237	hsa-miR-4480	PAR-CLIP	22100165
MIRT443245	hsa-miR-548n	PAR-CLIP	22100165
MIRT443244	hsa-miR-548az-5p	PAR-CLIP	22100165
MIRT443243	hsa-miR-548t-5p	PAR-CLIP	22100165
MIRT443242	hsa-miR-3133	PAR-CLIP	22100165
MIRT443241	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT443240	hsa-miR-548at-5p	PAR-CLIP	22100165
MIRT443239	hsa-miR-802	PAR-CLIP	22100165
MIRT443238	hsa-miR-4786-3p	PAR-CLIP	22100165
MIRT443237	hsa-miR-4480	PAR-CLIP	22100165
MIRT783255	hsa-miR-186	CLIP-seq
MIRT783256	hsa-miR-3143	CLIP-seq
MIRT783257	hsa-miR-3156-5p	CLIP-seq
MIRT783258	hsa-miR-3180-5p	CLIP-seq
MIRT783259	hsa-miR-3915	CLIP-seq
MIRT783260	hsa-miR-3928	CLIP-seq
MIRT783261	hsa-miR-3974	CLIP-seq
MIRT783262	hsa-miR-4272	CLIP-seq
MIRT783263	hsa-miR-4494	CLIP-seq
MIRT783264	hsa-miR-4499	CLIP-seq
MIRT783265	hsa-miR-4761-5p	CLIP-seq
MIRT783266	hsa-miR-4766-5p	CLIP-seq
MIRT783267	hsa-miR-493	CLIP-seq
MIRT783268	hsa-miR-520a-5p	CLIP-seq
MIRT783269	hsa-miR-520d-5p	CLIP-seq
MIRT783270	hsa-miR-524-5p	CLIP-seq
MIRT783271	hsa-miR-525-5p	CLIP-seq
MIRT783272	hsa-miR-543	CLIP-seq
MIRT783273	hsa-miR-548t	CLIP-seq
MIRT1931085	hsa-miR-4690-3p	CLIP-seq
MIRT2171712	hsa-miR-194	CLIP-seq
MIRT2171713	hsa-miR-3150b-3p	CLIP-seq
MIRT2171714	hsa-miR-323-3p	CLIP-seq
MIRT2171715	hsa-miR-371-5p	CLIP-seq
MIRT2171716	hsa-miR-371b-5p	CLIP-seq
MIRT2171717	hsa-miR-410	CLIP-seq
MIRT2171718	hsa-miR-4698	CLIP-seq
MIRT2171719	hsa-miR-4777-3p	CLIP-seq
MIRT2171720	hsa-miR-4784	CLIP-seq
MIRT2171721	hsa-miR-4797-5p	CLIP-seq
MIRT2171722	hsa-miR-539	CLIP-seq
MIRT2474755	hsa-miR-140-5p	CLIP-seq
MIRT2474756	hsa-miR-23a	CLIP-seq
MIRT2474757	hsa-miR-23b	CLIP-seq
MIRT2474758	hsa-miR-23c	CLIP-seq
MIRT2474759	hsa-miR-3545-5p	CLIP-seq
MIRT2474760	hsa-miR-380	CLIP-seq
MIRT2474761	hsa-miR-4460	CLIP-seq
MIRT2474762	hsa-miR-4495	CLIP-seq
MIRT2474763	hsa-miR-4687-3p	CLIP-seq
MIRT2474764	hsa-miR-4727-3p	CLIP-seq
MIRT2474765	hsa-miR-496	CLIP-seq
MIRT2474766	hsa-miR-548a-3p	CLIP-seq
MIRT2474767	hsa-miR-548e	CLIP-seq
MIRT2474768	hsa-miR-548f	CLIP-seq
MIRT2474769	hsa-miR-549	CLIP-seq
MIRT2474770	hsa-miR-647	CLIP-seq

Show/Hide all (3)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22666460
GO:0005813	Component	Centrosome	IDA	21399614
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS

MIM	HGNC	e!Ensembl
610855	29186	ENSG00000107890

Q9UPS8

Protein name

Ankyrin repeat domain-containing protein 26

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	50 → 143	Ankyrin repeats (3 copies)	Repeat
PF13637	Ank_4	113 → 166		Repeat
PF00023	Ank	178 → 210	Ankyrin repeat	Repeat
PF14915	CCDC144C	914 → 1218	CCDC144C protein coiled-coil region	Coiled-coil
PF12001	DUF3496	1523 → 1631	Domain of unknown function (DUF3496)	Family

Sequence

MKKIFSKKGESPLGSFARRQRSSAGGGGEPGEGAYSQPGYHVRDRDLGKIHKAASAGNVA
KVQQILLLRKNGLNDRDKMNRTALHLACANGHPEVVTLLVDRKCQLNVCDNENRTALMKA
VQCQEEKCATILLEHGADPNLADVHGNTALHYAVYNEDISVATKLLLYDANIEAKNKDDL
TPLLLAVSGKKQQMVEFLIKKKANVNAVDKLESSHQLISEYKEERIPKHSSQNSNSVDES
SEDSLSRLSGKPGVDDSWPTSDDEDLNFDTKNVPKPSLAKLMTASQQSRKNLEATYGTVR
TGNRTLFEDRDSDSQDEVVVESLPTTSIKVQCFSHPTYQSPDLLPKPSHKSLANPGLMKE
EPTKPGIAKKENGIDIIESAPLEQTNNDNLTYVDEVHKNNRSDMMSALGLGQEEDIESPW
DSESISENFPQKYVDPLAGAADGKEKNIGNEQAEDVFYIPSCMSGSRNFKMAKLEDTRNV
GMPVAHMESPERYLHLKPTIEMKDSVPNKAGGMKDVQTSKAAEHDLEVASEEEQEREGSE
NNQPQVEEERKKHRNNEMEVSANIHDGATDDAEDDDDDDGLIQKRKSGETDHQQFPRKEN
KEYASSGPALQMKEVKSTEKEKRTSKESVNSPVFGKASLLTGGLLQVDDDSSLSEIDEDE
GRPTKKTSNEKNKVKNQIQSMDDVDDLTQSSETASEDCELPHSSYKNFMLLIEQLGMECK
DSVSLLKIQDAALSCERLLELKKNHCELLTVKIKKMEDKVNVLQRELSETKEIKSQLEHQ
KVEWERELCSLRFSLNQEEEKRRNADTLYEKIREQLRRKEEQYRKEVEVKQQLELSLQTL
EMELRTVKSNLNQVVQERNDAQRQLSREQNARMLQDGILTNHLSKQKEIEMAQKKMNSEN
SHSHEEEKDLSHKNSMLQEEIAMLRLEIDTIKNQNQEKEKKCFEDLKIVKEKNEDLQKTI
KQNEETLTQTISQYNGRLSVLTAENAMLNSKLENEKQSKERLEAEVESYHSRLAAAIHDR
DQSETSKRELELAFQRARDECSRLQDKMNFDVSNLKDNNEILSQQLFKTESKLNSLEIEF
HHTRDALREKTLGLERVQKDLSQTQCQMKEMEQKYQNEQVKVNKYIGKQESVEERLSQLQ
SENMLLRQQLDDAHNKADNKEKTVINIQDQFHAIVQKLQAESEKQSLLLEERNKELISEC
NHLKERQYQYENEKAEREVVVRQLQQELADTLKKQSMSEASLEVTSRYRINLEDETQDLK
KKLGQIRNQLQEAQDRHTEAVRCAEKMQDHKQKLEKDNAKLKVTVKKQMDKIEELQKNLL
NANLSEDEKEQLKKLMELKQSLECNLDQEMKKNVELEREITGFKNLLKMTRKKLNEYENG
EFSFHGDLKTSQFEMDIQINKLKHKIDDLTAELETAGSKCLHLDTKNQILQEELLSMKTV
QKKCEKLQKNKKKLEQEVINLRSHIERNMVELGQVKQYKQEIEERARQEIAEKLKEVNLF
LQAQAASQENLEQFRENNFASMKSQMELRIKDLESELSKIKTSQEDFNKTELEKYKQLYL
EELKVRKSLSSKLTKTNERLAEVNTKLLVEKQQSRSLFTTLTTRPVMEPPCVGNLNNSLD
LNRKLIPRENLVISTSNPRASNNSMENYLSKMQQELEKNITRELKEAAAELESGSIASPL
GSTDESNLNQDLVWKASREYVQVLKKNYMI

Sequence length

1710

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ANKRD26-related disorder	Likely pathogenic; Pathogenic	rs1589393759	RCV004740446	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs863223318	RCV005600623	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs863223318, rs1589393759, rs1589393799, rs1589393809	RCV000851622 RCV000852254 RCV000851621 RCV000851578 RCV001003519 RCV001003522 RCV001003521 View all (2 more)	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 2	Pathogenic; Likely pathogenic	rs1589393792, rs189856879, rs910801961, rs863223318, rs1589393759, rs1589393799, rs1589393809, rs1589257502	RCV002245453 RCV002280956 RCV003330047 RCV000023838 RCV002222632 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal bleeding	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL THROMBOCYTOPENIA WITH NORMAL PLATELETS	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD PLATELET DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited bleeding disorder, platelet-type	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	23510089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	22672365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	21467542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	36794499	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	22102272, 27123948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31801613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31801613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	31801613	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial platelet disorder with associated myeloid malignancy	Platelet Disorder with Associated Myeloid Malignancy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	26693794	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	22102272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	22672365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	36794499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27365488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	27365488, 29365323, 32659145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	37852929	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	32659145, 37852929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23223974, 24430186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	24430186, 27108925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21467542, 22672365, 26693794, 28100250, 32659145, 38493476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28059092, 28100250, 31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28976612, 31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26693794, 28976612, 32618208, 32659145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27123948, 31425920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	27108925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	38493476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18162531, 28266632, 31801613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31801613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31801613	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31425920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Platelet Disorder, Familial, with Associated Myeloid Malignancy	Platelet Disorder with Associated Myeloid Malignancy	ORPHANET_DG	28109976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid tumor predisposition syndrome	Pubtator	37852929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	21467542, 24430186, 27108925, 27123948, 32659145	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 1	Thrombocytopenia	Pubtator	21467542, 22672365, 27123948, 28059092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 2 (disorder)	Thrombocytopenia	GENOMICS_ENGLAND_DG	10521306, 20626622, 21211618, 27881370		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 2 (disorder)	Thrombocytopenia	BEFREE	12890928, 21467542, 23223974, 24430186, 26175287, 27123948, 27365488, 28100250, 28976612		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 2 (disorder)	Thrombocytopenia	CLINGEN_DG	21211618, 21467542, 23677566, 24030261, 24430186, 25902755, 26175287, 28109976, 30747248		★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 2 (disorder)	Thrombocytopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA 2 (disorder)	Thrombocytopenia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	21467542	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ANKRD26 (ankyrin repeat domain containing 26)