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Aliases for ANKRD50 Gene

Aliases for ANKRD50 Gene

  • Ankyrin Repeat Domain 50 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 50 3
  • 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 ANKHD1.

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).

Additional gene information for ANKRD50 Gene

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

Genomics for ANKRD50 Gene

GeneHancer (GH) Regulatory Elements for ANKRD50 Gene

Promoters and enhancers for ANKRD50 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J124709 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 657.9 +1.4 1398 5 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 CBX5 ANKRD50 LINC02516
GH04J124901 Enhancer 0.8 Ensembl ENCODE 7.2 -190.5 -190463 4.2 STAT1 KLF4 FOXA1 OSR2 POLR2A ZNF341 STAT3 PRDM10 ZNF600 MAFK ANKRD50 GC04M124953
GH04J124631 Enhancer 1 Ensembl ENCODE 5.4 +80.5 80484 3.1 HDAC1 ATF1 NFIB RAD21 ZNF766 SMARCC2 FOS CEBPB ZNF217 SP1 ANKRD50 LINC02516
GH04J124685 Enhancer 0.4 Ensembl ENCODE 12.7 +26.7 26740 1.1 ANKRD50 LINC02516
GH04J124942 Enhancer 0.6 ENCODE 6.9 -230.2 -230179 1.5 CTCF STAT1 JUN CEBPB CEBPG EP300 ZNF217 GATA3 JUND POLR2A ANKRD50 GC04M124953
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD50 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD50 gene promoter:
  • RFX1
  • Meis-1b
  • Meis-1
  • HOXA9B
  • HOXA9
  • Nkx2-5
  • Lmo2
  • RelA
  • AREB6
  • Nkx6-1

Genomic Locations for ANKRD50 Gene

Genomic Locations for ANKRD50 Gene
chr4:124,664,048-124,713,220
(GRCh38/hg38)
Size:
49,173 bases
Orientation:
Minus strand
chr4:125,585,203-125,633,887
(GRCh37/hg19)
Size:
48,685 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

Post-translational modifications for ANKRD50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD50 Gene

No data available for DME Specific Peptides for ANKRD50 Gene

Domains & Families for ANKRD50 Gene

Gene Families for ANKRD50 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ANKRD50 Gene

Suggested Antigen Peptide Sequences for ANKRD50 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for ANKRD50 Gene

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 From GWAS Catalog for ANKRD50 Gene

Gene Ontology (GO) - Molecular Function for ANKRD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21911577
genes like me logo Genes that share ontologies with ANKRD50: view
genes like me logo Genes that share phenotypes with ANKRD50: view

Animal Model Products

miRNA for ANKRD50 Gene

miRTarBase miRNAs that target ANKRD50

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKRD50 gene
Compartment Confidence
cytosol 4
endosome 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with ANKRD50: view

Pathways & Interactions for ANKRD50 Gene

SuperPathways for ANKRD50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:1990126 retrograde transport, endosome to plasma membrane IMP 25278552
genes like me logo Genes that share ontologies with ANKRD50: view

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ANKRD50 Gene



Protein tissue co-expression partners for ANKRD50 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKRD50 Gene:

ANKRD50

SOURCE GeneReport for Unigene cluster for ANKRD50 Gene:

Hs.480694

Evidence on tissue expression from TISSUES for ANKRD50 Gene

  • Nervous system(4.3)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with ANKRD50: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ANKRD50 34 33
  • 99.51 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKRD50 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD50 34 33
  • 93.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD50 34 33
  • 90.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd50 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd50 33
  • 81.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD50 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD50 34 33
  • 82.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD50 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd50 33
  • 77.9 (n)
Str.3250 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13062 33
zebrafish
(Danio rerio)
Actinopterygii ANKRD50 (1 of 2) 34
  • 84 (a)
OneToMany
ANKRD50 (2 of 2) 34
  • 67 (a)
OneToMany
si:dkey-145p14.5 33
  • 54.21 (n)
Dr.22036 33
fruit fly
(Drosophila melanogaster)
Insecta CG10011 34
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T28D6.4 34
  • 28 (a)
OneToOne
Species where no ortholog for ANKRD50 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD50: view image

Paralogs for ANKRD50 Gene

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

  • ANR50_HUMAN
  • Q8TB46_HUMAN
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 Variation AA Info Type
rs1000014384 -- 124,670,084(-) A/G coding_sequence_variant, synonymous_variant
rs1000023261 -- 124,663,834(-) T/C downstream_transcript_variant
rs1000076289 -- 124,687,253(-) TTTTTTGTTTTTTTGTTTTT/TTTTTTGTTTTT intron_variant
rs1000094034 -- 124,671,217(-) A/G coding_sequence_variant, missense_variant
rs1000169414 -- 124,666,359(-) C/T 3_prime_UTR_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)

Additional Variant Information for ANKRD50 Gene

Human Gene Mutation Database (HGMD)
ANKRD50
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

Additional Disease Information for ANKRD50

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

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 IJ … Cullen PJ (Journal of cell science 2014) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Retromer- and WASH-dependent sorting of nutrient transporters requires a multivalent interaction network with ANKRD50. (PMID: 27909246) Kvainickas A … Steinberg F (Journal of cell science 2017) 3 58

Products for ANKRD50 Gene

Sources for ANKRD50 Gene

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