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Aliases for ANKRD50 Gene

Aliases for ANKRD50 Gene

  • Ankyrin Repeat Domain 50 2 3 5
  • KIAA1223 4

External Ids for ANKRD50 Gene

Previous GeneCards Identifiers for ANKRD50 Gene

  • GC04M125944
  • GC04M125804
  • GC04M125585
  • GC04M121312

Summaries for ANKRD50 Gene

GeneCards Summary for ANKRD50 Gene

ANKRD50 (Ankyrin Repeat Domain 50) is a Protein Coding gene. An important paralog of this gene is TANC1.

UniProtKB/Swiss-Prot for ANKRD50 Gene

  • Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD50 Gene

Genomics for ANKRD50 Gene

Regulatory Elements for ANKRD50 Gene

Enhancers for ANKRD50 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ANKRD50 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKRD50 Gene

Chromosome:
4
Start:
124,664,048 bp from pter
End:
124,713,220 bp from pter
Size:
49,173 bases
Orientation:
Minus strand

Genomic View for ANKRD50 Gene

Genes around ANKRD50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD50 Gene

Proteins for ANKRD50 Gene

  • Protein details for ANKRD50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULJ7-ANR50_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 50
    Protein Accession:
    Q9ULJ7
    Secondary Accessions:
    • A8K4V3
    • B4DHJ6
    • E9PDW0
    • Q6N064
    • Q6ZSE6

    Protein attributes for ANKRD50 Gene

    Size:
    1429 amino acids
    Molecular mass:
    155859 Da
    Quaternary structure:
    • Interacts with VPS35 (PubMed:25278552).

    Alternative splice isoforms for ANKRD50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD50 Gene

Proteomics data for ANKRD50 Gene at MOPED

Post-translational modifications for ANKRD50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD50 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKRD50 Gene

Domains & Families for ANKRD50 Gene

Gene Families for ANKRD50 Gene

Protein Domains for ANKRD50 Gene

Suggested Antigen Peptide Sequences for ANKRD50 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULJ7

UniProtKB/Swiss-Prot:

ANR50_HUMAN :
  • Contains 19 ANK repeats.
Similarity:
  • Contains 19 ANK repeats.
genes like me logo Genes that share domains with ANKRD50: view

Function for ANKRD50 Gene

Molecular function for ANKRD50 Gene

UniProtKB/Swiss-Prot Function:
Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552).

Phenotypes for ANKRD50 Gene

GenomeRNAi human phenotypes for ANKRD50:
genes like me logo Genes that share phenotypes with ANKRD50: view

Animal Model Products

CRISPR Products

miRNA for ANKRD50 Gene

miRTarBase miRNAs that target ANKRD50

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD50 Gene

Localization for ANKRD50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD50 Gene

Endosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKRD50 Gene COMPARTMENTS Subcellular localization image for ANKRD50 gene
Compartment Confidence
cytosol 4
endosome 4
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for ANKRD50 Gene

Pathways & Interactions for ANKRD50 Gene

SuperPathways for ANKRD50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD50 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKRD50 Gene

Drugs & Compounds for ANKRD50 Gene

No Compound Related Data Available

Transcripts for ANKRD50 Gene

mRNA/cDNA for ANKRD50 Gene

Unigene Clusters for ANKRD50 Gene

Ankyrin repeat domain 50:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD50 Gene

No ASD Table

Relevant External Links for ANKRD50 Gene

GeneLoc Exon Structure for
ANKRD50
ECgene alternative splicing isoforms for
ANKRD50

Expression for ANKRD50 Gene

mRNA expression in normal human tissues for ANKRD50 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANKRD50 Gene

This gene is overexpressed in Fetal Brain (41.4), Placenta (6.9), and Fetal testis (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANKRD50 Gene



SOURCE GeneReport for Unigene cluster for ANKRD50 Gene Hs.480694

genes like me logo Genes that share expression patterns with ANKRD50: view

Protein tissue co-expression partners for ANKRD50 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ANKRD50 Gene

Orthologs for ANKRD50 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD50 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ANKRD50 35
  • 90.72 (n)
  • 97.9 (a)
ANKRD50 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD50 35
  • 93.52 (n)
  • 98.04 (a)
ANKRD50 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANKRD50 35
  • 99.51 (n)
  • 99.79 (a)
ANKRD50 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd50 35
  • 81.48 (n)
  • 95.02 (a)
oppossum
(Monodelphis domestica)
Mammalia ANKRD50 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd50 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD50 36
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD50 35
  • 82.22 (n)
  • 93.65 (a)
ANKRD50 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD50 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd50 35
  • 77.9 (n)
  • 87.52 (a)
Str.3250 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13062 35
zebrafish
(Danio rerio)
Actinopterygii Dr.22036 35
si:dkey-145p14.5 35
  • 54.21 (n)
  • 51.62 (a)
ANKRD50 (1 of 2) 36
  • 84 (a)
OneToMany
ANKRD50 (2 of 2) 36
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10011 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T28D6.4 36
  • 28 (a)
OneToOne
Species with no ortholog for ANKRD50:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ANKRD50 Gene

ENSEMBL:
Gene Tree for ANKRD50 (if available)
TreeFam:
Gene Tree for ANKRD50 (if available)

Paralogs for ANKRD50 Gene

(11) SIMAP similar genes for ANKRD50 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ANKRD50: view

Variants for ANKRD50 Gene

Sequence variations from dbSNP and Humsavar for ANKRD50 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs313879 -- 124,666,924(+) TTTTT(A/T)AACTG utr-variant-3-prime
rs1495126 -- 124,664,919(+) TATCA(A/C)TTTCC utr-variant-3-prime
rs1495127 -- 124,668,002(+) TATAA(C/T)TTTGT intron-variant
rs1495128 -- 124,706,528(+) AGAAG(C/T)AAACT intron-variant
rs1826964 -- 124,696,432(+) AAAAA(A/G)AATGA intron-variant

Variation tolerance for ANKRD50 Gene

Residual Variation Intolerance Score: 3.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 47.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKRD50 Gene

HapMap Linkage Disequilibrium report
ANKRD50
Human Gene Mutation Database (HGMD)
ANKRD50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ANKRD50 Gene

Disorders for ANKRD50 Gene

Relevant External Links for ANKRD50

Genetic Association Database (GAD)
ANKRD50
Human Genome Epidemiology (HuGE) Navigator
ANKRD50
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD50

No disorders were found for ANKRD50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD50 Gene

Publications for ANKRD50 Gene

  1. Identification of molecular heterogeneity in SNX27-retromer-mediated endosome-to-plasma-membrane recycling. (PMID: 25278552) McGough I.J. … Cullen P.J. (J. Cell Sci. 2014) 3 4 67
  2. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3

Products for ANKRD50 Gene

Sources for ANKRD50 Gene

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