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

459

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ANKRD26-related disorder	Likely pathogenic; Pathogenic	rs1589393759	RCV004740446
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs863223318	RCV005600623
Thrombocytopenia	Likely pathogenic; Pathogenic	rs863223318, rs1589393759, rs1589393799, rs1589393809	RCV000851622 RCV000852254 RCV000851621 RCV000851578 RCV001003519 RCV001003522 RCV001003521
Thrombocytopenia 2	Pathogenic; Likely pathogenic	rs1589393792, rs189856879, rs910801961, rs863223318, rs1589393759, rs1589393799, rs1589393809, rs1589257502	RCV002245453 RCV002280956 RCV003330047 RCV000023838 RCV002222632 RCV001615051 RCV002245643 RCV005432528 RCV001594406 RCV001028001

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Conflicting classifications of pathogenicity	rs41304587	RCV001270519
Acute myeloid leukemia	Benign; Likely benign	rs35564547, rs41279940, rs149655759, rs41299222	RCV005920279 RCV005920422 RCV005893944 RCV005893939
Cervical cancer	Benign; Likely benign	rs114048314, rs149655759	RCV005914501 RCV005893946
Cholangiocarcinoma	Benign	rs35564547, rs16927545	RCV005920283 RCV005920047
Gastric cancer	Benign	rs16927545, rs41279940, rs2297144	RCV005920044 RCV005920427 RCV005925343
Inherited bleeding disorder, platelet-type	Conflicting classifications of pathogenicity	rs1589393792	RCV000851618
Lung cancer	Benign	rs16927545, rs2297144	RCV005920048 RCV005925344
Malignant lymphoma, large B-cell, diffuse	Benign	rs35564547, rs41279940	RCV005920280 RCV005920425
Malignant tumor of esophagus	Benign; Likely benign	rs16927545, rs41279940, rs2297144, rs149655759	RCV005920042 RCV005920423 RCV005925342 RCV005893945
Melanoma	Benign	rs41299222	RCV005893942
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs16927545, rs41279940, rs149655759, rs41299222, rs1242530739	RCV005920045 RCV005920428 RCV005893948 RCV005893941 RCV005931596
Sarcoma	Benign; Uncertain significance	rs16927545, rs41279940, rs41299222, rs369265533	RCV005920043 RCV005920426 RCV005893940 RCV005931378
Thymoma	Benign	rs35564547, rs41279940	RCV005920282 RCV005920429
Uterine carcinosarcoma	Benign; Likely benign	rs35564547, rs16927545, rs149655759, rs113123391	RCV005920281 RCV005920046 RCV005893949 RCV005869280
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs114048314, rs149655759, rs41299222	RCV005914502 RCV005893950 RCV005893943
Uveal melanoma	Benign; Likely benign	rs41279940, rs2297147, rs149655759	RCV005920424 RCV005922227 RCV005893947

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bernard Soulier Syndrome	Associate	22672365
Blood Platelet Disorders	Associate	36794499
Chromosome Aberrations	Associate	32659145
Diabetes Mellitus	Associate	31801613
Drug Hypersensitivity	Associate	36794499
GATA2 Deficiency	Associate	26693794
Gray Platelet Syndrome	Associate	22672365
Hematologic Diseases	Associate	36794499
Hematologic Neoplasms	Associate	27365488, 29365323, 32659145
Hematologic Neoplasms	Stimulate	37852929
Hemorrhage	Associate	32659145, 37852929
Inflammation	Associate	31801613
Leukemia	Associate	24430186, 27108925
Leukemia Myeloid Acute	Associate	21467542, 22672365, 26693794, 28100250, 32659145, 38493476
Leukocytosis	Associate	36794499
Myelodysplastic Syndromes	Associate	26693794, 28976612, 32618208, 32659145
Neoplasms	Associate	27123948, 28100250, 32659145, 33350495, 35500227, 38493476
Neoplastic Syndromes Hereditary	Associate	34237177
Neural Tube Defects	Associate	27108925
Neuroblastoma	Associate	38493476
Obesity	Associate	31801613
Obesity	Inhibit	31801613
Purpura Thrombocytopenic Idiopathic	Associate	32659145, 37852929
Rhabdoid Tumor Predisposition Syndrome 1	Associate	37852929
Thrombasthenia Thrombocytopenia Hereditary	Associate	21467542, 27108925, 28976612, 32618208, 32659145
Thrombocytopenia	Associate	21467542, 24430186, 27108925, 27123948, 32659145
Thrombocytopenia 1	Associate	21467542, 22672365, 27123948, 28059092
Thrombocytopenia chromosome breakage	Associate	21467542, 24430186, 27123948, 27365488, 28100250, 28976612, 32618208, 36794499, 37852929
Tomaculous neuropathy	Associate	21467542

ANKRD26 (ankyrin repeat domain containing 26)