Gene Gene information from NCBI Gene database.
Entrez ID 91526
Gene name Ankyrin repeat domain 44
Gene symbol ANKRD44
Synonyms (NCBI Gene)
ARSBPP6-ARS-B
Chromosome 2
Chromosome location 2q33.1
miRNA miRNA information provided by mirtarbase database.
345
miRTarBase ID miRNA Experiments Reference
MIRT017685 hsa-miR-335-5p Microarray 18185580
MIRT524901 hsa-miR-8485 HITS-CLIP 23824327
MIRT524900 hsa-miR-329-3p HITS-CLIP 23824327
MIRT524899 hsa-miR-362-3p HITS-CLIP 23824327
MIRT524898 hsa-miR-603 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16555005, 18186651, 24255178, 25416956, 31515488, 32814053, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620861 25259 ENSG00000065413
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N8A2
Protein name Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B (PP6-ARS-B) (Serine/threonine-protein phosphatase 6 regulatory subunit ARS-B) (Ankyrin repeat domain-containing protein 44)
Protein function Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 5 71 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 78 170 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 111 203 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 177 269 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 234 303 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 276 368 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 354 435 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 376 468 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 433 563 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 500 597 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 556 630 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 628 700 Ankyrin repeats (3 copies) Repeat
PF13637 Ank_4 705 760 Repeat
PF12796 Ank_2 752 833 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 827 903 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 902 972 Ankyrin repeats (3 copies) Repeat
Sequence
MAVLKLTDQPPLVQAIFSGDPEEIRMLIHKTEDVNTLDSEKRTPLHVAAFLGDAEIIELL
ILSGARVNAKD
NMWLTPLHRAVASRSEEAVQVLIKHSADVNARDKNWQTPLHVAAANKAV
KCAEVIIPLLSSVNVSDRGGRTALHHAALNGHVEMVNLLLAKGANINAFD
KKDRRALHWA
AYMGHLDVVALLINHGAEVTCKD
KKGYTPLHAAASNGQINVVKHLLNLGVEIDEINVYGN
TALHIACYNGQDAVVNELIDYGANVNQPN
NNGFTPLHFAAASTHGALCLELLVNNGADVN
IQS
KDGKSPLHMTAVHGRFTRSQTLIQNGGEIDCVDKDGNTPLHVAARYGHELLINTLIT
SGADTAKC
GIHSMFPLHLAALNAHSDCCRKLLSSGFEIDTPDKFGRTCLHAAAAGGNVEC
IKLLQSSGADFH
KKDKCGRTPLHYAAANCHFHCIETLVTTGANVNETDDWGRTALHYAAA
SDMDRNKTILGNAHDNSEELERARELKEKEATLCLEFLLQNDANPSIRDKEGYNSIHYAA
AYGHRQCLELLLERT
NSGFEESDSGATKSPLHLAAYNGHHQALEVLLQSLVDLDIRDEKG
RTALDLAAFKGHTECVEALINQGASIFVKDNVTKRTPLHASVINGHTLCLRLLLEIADNP
EAVDVKDAKGQTPLMLAVAYGHIDAVSLLLEKEANVDTVD
ILGCTALHRGIMTGHEECVQ
MLLEQEVSILCKDSRGRTPLHYAAARGHATW
LSELLQMALSEEDCCFKDNQGYTPLHWAC
YNGNENCIEVLLEQKCFRKFIGNPFTPLHCAIINDHGNCASLLLGAIDSSIVSCRDDKGR
TPLHAAAFADHVECLQLLLRHSAPVNAVDNSGKTALMMAAENGQAGAVDILVNSAQADLT
VKDKDLNTPLHLACSKGHEKCALLILDKIQDESLINEKNNALQTPLHVAARNGLKVVVEE
LLAKGACVLAVD
ENASRSNGPRSTPGTAVQKEE
Sequence length 993
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with hypotonia, seizures, and absent language Likely pathogenic rs2469332282 RCV003991504
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 19668339 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm GWASCAT_DG 27418160
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Thoracic Aortic Aneurysm GWASCAT_DG 27418160
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28659610
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28659610
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 28659610 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31297336, 31380291
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 29667349 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Carotid Artery Diseases Carotid artery disease Pubtator 28659610 Associate
★☆☆☆☆
Found in Text Mining only