Gene Gene information from NCBI Gene database.
Entrez ID 57182
Gene name Ankyrin repeat domain containing 50
Gene symbol ANKRD50
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4q28.1
miRNA miRNA information provided by mirtarbase database.
559
miRTarBase ID miRNA Experiments Reference
MIRT660640 hsa-miR-153-5p HITS-CLIP 19536157
MIRT716105 hsa-miR-374a-3p HITS-CLIP 19536157
MIRT660639 hsa-miR-1250-3p HITS-CLIP 23824327
MIRT660640 hsa-miR-153-5p HITS-CLIP 23824327
MIRT660638 hsa-miR-6734-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21911577, 25278552, 32296183
GO:0005768 Component Endosome IEA
GO:0015031 Process Protein transport IEA
GO:0032456 Process Endocytic recycling IMP 25278552
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619856 29223 ENSG00000151458
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULJ7
Protein name Ankyrin repeat domain-containing protein 50
Protein function Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 486 575 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 520 608 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 582 674 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 648 743 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 714 811 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 786 877 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 862 943 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 950 1042 Ankyrin repeats (3 copies) Repeat
PF13637 Ank_4 1045 1098 Repeat
Sequence
MTNPWEEKVCKMAQTSLLQGKQFYCREWVFHKLQHCLQEKSNCCNSAVNAPSLVMNSGNN
ASGVSGKGAAWGVLLVGGPGSGKTALCTELLWPSSPASLQRGLHRQALAFHFCKAQDSDT
LCVGGFIRGLVAQICRSGLLQGYEDKLRDPAVQSLLQPGECERNPAEAFKRCVLLPLLGM
KPPQQSLYLLVDSVDEGCNITEGEQTSTSLSGTVAALLAGHHEFFPPWLLLLCSARKQSK
AVTKMFTGFRKISLDDLRKAYIVKDVQQYILHRLDQEEALRQHLTKETAEMLNQLHIKSS
GCFLYLERVLDGVVENFIMLREIRDIPGTLNGLYLWLCQRLFVRKQFAKVQPILNVILAA
CRPLTITELYHAVWTKNMSLTLEDFQRKLDILSKLLVDGLGNTKILFHYSFAEWLLDVKH
CTQKYLCNAAEGHRMLAMSYTCQAKNLTPLEAQEFALHLINSNLQLETAELALWMIWNGT
PVRDSLSTLIPKEQEVLQLLVKAGAHVNSEDDRTSCIVRQALEREDSIRTLLDNGASVNQ
CDSNGRTLLANAAYSGSLDVVNLLVSRGADLEIED
AHGHTPLTLAARQGHTKVVNCLIGC
GANINHTD
QDGWTALRSAAWGGHTEVVSALLYAGVKVDCADADSRTALRAAAWGGHEDIV
LNLLQHGAEVNKAD
NEGRTALIAAAYMGHREIVEHLLDHGAEVNHEDVDGRTALSVAALC
VPASKGHASVVSLLIDRGAEVDH
CDKDGMTPLLVAAYEGHVDVVDLLLEGGADVDHTDNN
GRTPLLAAASMGHASVVNTLLFWGAAVDSIDSEGRTVLSIASAQGNVEVVRTLLDRGLDE
NHRDDAGWTPLHMAAFEGHRLICEALIEQGARTNEIDNDGRIPFILASQEGHYDCVQILL
ENKSNIDQRGYDGRNALRVAALEGHRDIVELLFSHGADVNCKD
ADGRPTLYILALENQLT
MAEYFLENGANVEASDAEGRTALHVSCWQGHMEMVQVLIAYHADVNAADNEKRSALQSAA
WQGHVKVVQLLIEHGAVVDHTC
NQGATALCIAAQEGHIDVVQVLLEHGADPNHADQFGRT
AMRVAAKNGHSQIIKLLE
KYGASSLNGCSPSPVHTMEQKPLQSLSSKVQSLTIKSNSSGS
TGGGDMQPSLRGLPNGPTHAFSSPSESPDSTVDRQKSSLSNNSLKSSKNSSLRTTSSTAT
AQTVPIDSFHNLSFTEQIQQHSLPRSRSRQSIVSPSSTTQSLGQSHNSPSSEFEWSQVKP
SLKSTKASKGGKSENSAKSGSAGKKAKQSNSSQPKVLEYEMTQFDRRGPIAKSGTAAPPK
QMPAESQCKIMIPSAQQEIGRSQQQFLIHQQSGEQKKRNGIMTNPNYHLQSNQVFLGRVS
VPRTMQDRGHQEVLEGYPSSETELSLKQALKLQIEGSDPSFNYKKETPL
Sequence length 1429
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cognition Disorders Associate 40494419
★☆☆☆☆
Found in Text Mining only
Genetic Diseases Inborn Associate 27909246
★☆☆☆☆
Found in Text Mining only
Lupus Nephritis Associate 26509176
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Associate 40494419
★☆☆☆☆
Found in Text Mining only