Aliases for SOWAHB Gene

Aliases for SOWAHB Gene

  • Sosondowah Ankyrin Repeat Domain Family Member B 2 3 5
  • Ankyrin Repeat Domain-Containing Protein SOWAHB 3 4
  • Ankyrin Repeat Domain-Containing Protein 56 3 4
  • Protein Sosondowah Homolog B 3 4
  • Ankyrin Repeat Domain 56 2 3
  • ANKRD56 3 4

External Ids for SOWAHB Gene

Previous HGNC Symbols for SOWAHB Gene

  • ANKRD56

Previous GeneCards Identifiers for SOWAHB Gene

  • GC04M077817
  • GC04M077819
  • GC04M077824
  • GC04M077832
  • GC04M077838

Summaries for SOWAHB Gene

GeneCards Summary for SOWAHB Gene

SOWAHB (Sosondowah Ankyrin Repeat Domain Family Member B) is a Protein Coding gene. Diseases associated with SOWAHB include Hypochondrogenesis and Achondrogenesis, Type Ii. An important paralog of this gene is SOWAHA.

Additional gene information for SOWAHB Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOWAHB Gene

Genomics for SOWAHB Gene

GeneHancer (GH) Regulatory Elements for SOWAHB Gene

Promoters and enhancers for SOWAHB 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
GH04J076896 Promoter/Enhancer 1.2 Ensembl ENCODE 545.3 +0.2 228 2.6 FOXK2 POLR2G ZFX ZIC2 TCF7 ZNF423 ZBTB26 TEAD1 ZNF341 EZH2 SOWAHB MG828672 ENSG00000242727 lnc-SEPT11-4
GH04J076900 Enhancer 0.4 Ensembl 544 -1.4 -1357 0.2 CREM ARID4B EZH2 FOXA1 PRDM1 SOWAHB MG828672 lnc-SEPT11-3
GH04J076947 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 -52.1 -52057 6 FOXK2 HNRNPK ZNF217 CTCF SIN3A NRF1 POLR2G SP1 BCLAF1 JUND SEPTIN11 LOC105377294 lnc-SOWAHB-5 CNOT6L NUP54 SDAD1 SOWAHB MRPL1 TXNP6
GH04J076904 Enhancer 0.5 Ensembl ENCODE 45.5 -7.2 -7219 1.9 USF1 DACH1 SOWAHB lnc-SEPT11-3 MG828672 lnc-SOWAHB-5
GH04J076855 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 19.3 +41.1 41067 3 EP300 NCOR1 KDM6A TCF7 RFX1 TGIF2 SKI TEAD1 ATF2 FOXA2 SOWAHB CNOT6L NUP54 RPL7P17 RF01061-127 HSALNG0035327
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOWAHB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOWAHB

Genomic Locations for SOWAHB Gene

Genomic Locations for SOWAHB Gene
chr4:76,894,152-76,898,144
(GRCh38/hg38)
Size:
3,993 bases
Orientation:
Minus strand
chr4:77,816,082-77,819,002
(GRCh37/hg19)
Size:
2,921 bases
Orientation:
Minus strand

Genomic View for SOWAHB Gene

Genes around SOWAHB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SOWAHB Gene

Proteins for SOWAHB Gene

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

    Protein Symbol:
    A6NEL2-SWAHB_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein SOWAHB
    Protein Accession:
    A6NEL2
    Secondary Accessions:
    • B2RP29

    Protein attributes for SOWAHB Gene

    Size:
    793 amino acids
    Molecular mass:
    85742 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SOWAHB Gene

Post-translational modifications for SOWAHB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOWAHB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SOWAHB Gene

Domains & Families for SOWAHB Gene

Gene Families for SOWAHB Gene

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

Protein Domains for SOWAHB Gene

Suggested Antigen Peptide Sequences for SOWAHB Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat domain-containing protein 56 (ANR56_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NEL2

UniProtKB/Swiss-Prot:

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

Function for SOWAHB Gene

Phenotypes From GWAS Catalog for SOWAHB Gene

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

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 SOWAHB Gene

Localization for SOWAHB 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 SOWAHB gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

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

Pathways & Interactions for SOWAHB Gene

PathCards logo

SuperPathways for SOWAHB Gene

No Data Available

Interacting Proteins for SOWAHB Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000334879 A6NEL2-SWAHB_HUMAN for SOWAHB Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for SOWAHB Gene

None

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

Drugs & Compounds for SOWAHB Gene

No Compound Related Data Available

Transcripts for SOWAHB Gene

mRNA/cDNA for SOWAHB Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for SOWAHB Gene

GeneLoc Exon Structure for
SOWAHB

Expression for SOWAHB Gene

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

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

This gene is overexpressed in Liver (x6.3), Esophagus - Mucosa (x5.4), Brain - Frontal Cortex (BA9) (x5.0), Brain - Cortex (x5.0), and Colon - Transverse (x4.1).

Protein differential expression in normal tissues from HIPED for SOWAHB Gene

This gene is overexpressed in Pancreas (39.6), Heart (14.9), and Adipocyte (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SOWAHB Gene



Protein tissue co-expression partners for SOWAHB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOWAHB

SOURCE GeneReport for Unigene cluster for SOWAHB Gene:

Hs.257292
genes like me logo Genes that share expression patterns with SOWAHB: view

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 SOWAHB Gene

Orthologs for SOWAHB Gene

This gene was present in the common ancestor of animals.

Orthologs for SOWAHB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOWAHB 30
  • 98.23 (n)
dog
(Canis familiaris)
Mammalia SOWAHB 31 30
  • 80.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SOWAHB 31 30
  • 79.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sowahb 30
  • 77.67 (n)
mouse
(Mus musculus)
Mammalia Sowahb 17 31 30
  • 77.29 (n)
oppossum
(Monodelphis domestica)
Mammalia SOWAHB 31
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOWAHB 31 30
  • 61.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOWAHB 31
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CR381544.1 31
  • 22 (a)
ManyToMany
wufa55b05 30
fruit fly
(Drosophila melanogaster)
Insecta sowah 31
  • 11 (a)
OneToMany
Species where no ortholog for SOWAHB 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)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SOWAHB Gene

ENSEMBL:
Gene Tree for SOWAHB (if available)
TreeFam:
Gene Tree for SOWAHB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SOWAHB: view image

Paralogs for SOWAHB Gene

Paralogs for SOWAHB Gene

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

Variants for SOWAHB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOWAHB Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
728739 Benign: not provided 76,895,471(-) G/T MISSENSE_VARIANT
rs2703129 - p.Asp152Gly
rs2703130 - p.Pro377Thr

Additional dbSNP identifiers (rs#s) for SOWAHB Gene

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

Variant ID Type Subtype PubMed ID
nsv7363 OTHER inversion 18451855
nsv829973 CNV loss 17160897

Variation tolerance for SOWAHB Gene

Residual Variation Intolerance Score: 52.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.04; 90.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOWAHB Gene

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

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

Disorders for SOWAHB Gene

MalaCards: The human disease database

(4) MalaCards diseases for SOWAHB Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypochondrogenesis
  • achondrogenesis type ii/hypochondrogenesis
achondrogenesis, type ii
  • acg2
waardenburg syndrome, type 2a
  • ws2a
osteogenesis imperfecta, type ii
  • oi2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SOWAHB

genes like me logo Genes that share disorders with SOWAHB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SOWAHB Gene

Publications for SOWAHB Gene

  1. An ancient genomic regulatory block conserved across bilaterians and its dismantling in tetrapods by retrogene replacement. (PMID: 22234889) Maeso I … Garcia-Fernàndez J (Genome research 2012) 2 3 54
  2. Genome-Wide Association Study of the Genetic Determinants of Emphysema Distribution. (PMID: 27669027) Boueiz A … COPDGene and ECLIPSE Investigators (American journal of respiratory and critical care medicine 2017) 3 54
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 54
  4. Ankyrin repeat: a unique motif mediating protein-protein interactions. (PMID: 17176038) Li J … Tsai MD (Biochemistry 2006) 3 54
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 54

Products for SOWAHB Gene

Sources for SOWAHB Gene