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Aliases for SOWAHC Gene

Aliases for SOWAHC Gene

  • Sosondowah Ankyrin Repeat Domain Family Member C 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 57 3 4
  • Protein Sosondowah Homolog C 3 4
  • Ankyrin Repeat Domain 57 2 3
  • ANKRD57 3 4
  • C2orf26 3 4
  • Ankyrin Repeat Domain-Containing Protein SOWAHC 3

External Ids for SOWAHC Gene

Previous HGNC Symbols for SOWAHC Gene

  • C2orf26
  • ANKRD57

Previous GeneCards Identifiers for SOWAHC Gene

  • GC02P110372

Summaries for SOWAHC Gene

GeneCards Summary for SOWAHC Gene

SOWAHC (Sosondowah Ankyrin Repeat Domain Family Member C) is a Protein Coding gene. An important paralog of this gene is SOWAHA.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOWAHC Gene

Genomics for SOWAHC Gene

Regulatory Elements for SOWAHC Gene

Enhancers for SOWAHC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G109635 1.4 FANTOM5 Ensembl ENCODE 14.2 +22.9 22919 3.8 ELF3 FOXA2 MLX ARID4B DNMT3B RARA ZNF548 RELB ETV6 IKZF2 SOWAHC SEPT10 RGPD6 GC02P109639
GH02G109605 1.6 Ensembl ENCODE dbSUPER 9 -3.1 -3118 11.0 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS SEPT10 SOWAHC LINC00116 GPAA1P2 ENSG00000230696
GH02G109630 1 ENCODE 8.8 +17.4 17387 2.9 MLX ARID4B DMAP1 ZNF48 SLC30A9 SP5 PPARG KAT8 MIER3 MXD3 SEPT10 SOWAHC GC02P109639
GH02G109557 1.2 Ensembl ENCODE 4.7 -55.5 -55493 2.1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 GATA2 FOS MIER2 PPARG SEPT10 SOWAHC RPL37P12 GC02M109583
GH02G109510 0.8 ENCODE 5.2 -104.0 -104046 0.2 HDGF WRNIP1 ZNF2 RAD21 ZNF143 ZNF391 DEK ZNF654 HMG20B ZEB2 SOWAHC PIR44603 RPL37P12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SOWAHC on UCSC Golden Path with GeneCards custom track

Promoters for SOWAHC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000292846 -434 3001 HDGF FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS
ENSR00000121544 1766 201 CTCF SAP130 ARID4B HBP1 RAD21 RARA NCOR1 SMC3 HNF4G ZSCAN29

Genomic Location for SOWAHC Gene

Chromosome:
2
Start:
109,614,334 bp from pter
End:
109,618,990 bp from pter
Size:
4,657 bases
Orientation:
Plus strand

Genomic View for SOWAHC Gene

Genes around SOWAHC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SOWAHC Gene

Proteins for SOWAHC Gene

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

    Protein Symbol:
    Q53LP3-SWAHC_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein SOWAHC
    Protein Accession:
    Q53LP3
    Secondary Accessions:
    • Q8NE15
    • Q9H6U1

    Protein attributes for SOWAHC Gene

    Size:
    525 amino acids
    Molecular mass:
    55672 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15161.1; Type=Frameshift; Positions=311; Evidence={ECO:0000305};

neXtProt entry for SOWAHC Gene

Post-translational modifications for SOWAHC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOWAHC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SOWAHC Gene

Domains & Families for SOWAHC Gene

Gene Families for SOWAHC Gene

Protein Domains for SOWAHC Gene

Suggested Antigen Peptide Sequences for SOWAHC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53LP3

UniProtKB/Swiss-Prot:

SWAHC_HUMAN :
  • Belongs to the SOWAH family.
Family:
  • Belongs to the SOWAH family.
genes like me logo Genes that share domains with SOWAHC: view

Function for SOWAHC Gene

genes like me logo Genes that share phenotypes with SOWAHC: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Localization for SOWAHC Gene

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 SOWAHC gene
Compartment Confidence
nucleus 2
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SOWAHC Gene

Pathways & Interactions for SOWAHC Gene

SuperPathways for SOWAHC Gene

No Data Available

Gene Ontology (GO) - Biological Process for SOWAHC Gene

None

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

Drugs & Compounds for SOWAHC Gene

No Compound Related Data Available

Transcripts for SOWAHC Gene

mRNA/cDNA for SOWAHC Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(99) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOWAHC Gene

Sosondowah ankyrin repeat domain family member C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for SOWAHC Gene

GeneLoc Exon Structure for
SOWAHC
ECgene alternative splicing isoforms for
SOWAHC

Expression for SOWAHC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SOWAHC Gene

mRNA differential expression in normal tissues according to GTEx for SOWAHC Gene

This gene is overexpressed in Esophagus - Mucosa (x5.4) and Liver (x4.5).

Protein differential expression in normal tissues from HIPED for SOWAHC Gene

This gene is overexpressed in Blymphocyte (19.4), Fetal Brain (12.8), and Testis (7.6).

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



Protein tissue co-expression partners for SOWAHC Gene

NURSA nuclear receptor signaling pathways regulating expression of SOWAHC Gene:

SOWAHC

SOURCE GeneReport for Unigene cluster for SOWAHC Gene:

Hs.355455
genes like me logo Genes that share expression patterns with SOWAHC: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SOWAHC Gene

Orthologs for SOWAHC Gene

This gene was present in the common ancestor of animals.

Orthologs for SOWAHC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOWAHC 34 35
  • 98.21 (n)
dog
(Canis familiaris)
Mammalia SOWAHC 34 35
  • 81.29 (n)
mouse
(Mus musculus)
Mammalia Sowahc 34 16 35
  • 77.07 (n)
rat
(Rattus norvegicus)
Mammalia Sowahc 34
  • 76.8 (n)
chicken
(Gallus gallus)
Aves SOWAHC 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sowahc 34
  • 65.83 (n)
zebrafish
(Danio rerio)
Actinopterygii sowahcb 34 35
  • 52.89 (n)
SOWAHC (2 of 3) 35
  • 37 (a)
OneToMany
sowahca 35
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sowah 35
  • 12 (a)
OneToMany
Species where no ortholog for SOWAHC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • cow (Bos Taurus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SOWAHC Gene

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

Paralogs for SOWAHC Gene

Paralogs for SOWAHC Gene

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

Variants for SOWAHC Gene

Sequence variations from dbSNP and Humsavar for SOWAHC Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000010484 -- 109,619,019(+) TCTGT(C/T)GTCCT intron-variant
rs1000115271 -- 109,612,423(+) ATATC(A/G)TACTA intron-variant, upstream-variant-2KB
rs1000563086 -- 109,613,925(+) GCAAC(A/C/G)GGCGG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000669196 -- 109,615,077(+) GCTAC(C/T)GCACA intron-variant, upstream-variant-2KB, reference, synonymous-codon
rs1001119460 -- 109,618,535(+) CTTCT(A/G)GCATT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SOWAHC Gene

Variant ID Type Subtype PubMed ID
dgv1162e212 CNV gain 25503493
dgv4037n100 CNV gain 25217958
esv2762780 CNV gain 21179565
esv3591944 CNV gain 21293372
esv3591945 CNV gain 21293372
nsv1149522 OTHER inversion 26484159
nsv510884 OTHER complex 20534489
nsv829617 CNV gain 20364138

Variation tolerance for SOWAHC Gene

Gene Damage Index Score: 3.83; 58.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SOWAHC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOWAHC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOWAHC Gene

Disorders for SOWAHC Gene

Relevant External Links for SOWAHC

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOWAHC

No disorders were found for SOWAHC Gene.

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

Publications for SOWAHC Gene

  1. An ancient genomic regulatory block conserved across bilaterians and its dismantling in tetrapods by retrogene replacement. (PMID: 22234889) Maeso I. … Garcia-FernA ndez J. (Genome Res. 2012) 2 3 64
  2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SOWAHC Gene

Sources for SOWAHC Gene

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