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Aliases for ANKRD49 Gene

Aliases for ANKRD49 Gene

  • Ankyrin Repeat Domain 49 2 3 5
  • Fetal Globin-Inducing Factor 3 4
  • FGIF 3 4
  • Ankyrin Repeat Domain-Containing Protein 49 3
  • GBIF 3

External Ids for ANKRD49 Gene

Previous GeneCards Identifiers for ANKRD49 Gene

  • GC11P093867
  • GC11P094227
  • GC11P090292

Summaries for ANKRD49 Gene

GeneCards Summary for ANKRD49 Gene

ANKRD49 (Ankyrin Repeat Domain 49) is a Protein Coding gene.

UniProtKB/Swiss-Prot for ANKRD49 Gene

  • Induces HBG1 expression (PubMed:16131492, PubMed:11162141). May have a role in spermatogenesis where it promotes autophagy in response to serum starvation, via the NF-kappaB pathway (By similarity).

Additional gene information for ANKRD49 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 ANKRD49 Gene

Genomics for ANKRD49 Gene

GeneHancer (GH) Regulatory Elements for ANKRD49 Gene

Promoters and enhancers for ANKRD49 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
GH11I094492 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 564.3 +0.3 269 2.5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B MRE11 ANKRD49 ENSG00000255893 MED17 SNORA1
GH11I093733 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 61.4 -755.3 -755294 9.9 HNRNPUL1 PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 POLR2B C11orf54 TAF1D MED17 ANKRD49 CEP295 MRE11 SNORA1 ENSG00000255445 SMCO4 ENSG00000284057
GH11I094127 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 30.7 -361.1 -361144 10.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207 ZNF143 FOS PANX1 MED17 ANKRD49 MRE11 SNORA1 HEPHL1 FUT4 PIR47114 GC11P094183
GH11I093783 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 32.1 -708.9 -708899 2.6 PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 MED17 TAF1D C11orf54 SNORA1 MRE11 ANKRD49 SNORA40 SNORA18 SNORA25 SNORA32
GH11I093660 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 24 -831.4 -831384 2.5 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CEP295 GC11P093662 MED17 ANKRD49 MRE11 SNORA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD49 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD49 gene promoter:

Genomic Locations for ANKRD49 Gene

Genomic Locations for ANKRD49 Gene
chr11:94,493,629-94,499,583
(GRCh38/hg38)
Size:
5,955 bases
Orientation:
Plus strand
chr11:94,226,795-94,232,749
(GRCh37/hg19)

Genomic View for ANKRD49 Gene

Genes around ANKRD49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD49 Gene

Proteins for ANKRD49 Gene

  • Protein details for ANKRD49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVL7-ANR49_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 49
    Protein Accession:
    Q8WVL7
    Secondary Accessions:
    • Q8NDF2
    • Q96JE5
    • Q9NXK7

    Protein attributes for ANKRD49 Gene

    Size:
    239 amino acids
    Molecular mass:
    27290 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ANKRD49 Gene

Post-translational modifications for ANKRD49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD49 Gene

Domains & Families for ANKRD49 Gene

Gene Families for ANKRD49 Gene

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

Protein Domains for ANKRD49 Gene

Suggested Antigen Peptide Sequences for ANKRD49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKRD49: view

No data available for UniProtKB/Swiss-Prot for ANKRD49 Gene

Function for ANKRD49 Gene

Molecular function for ANKRD49 Gene

UniProtKB/Swiss-Prot Function:
Induces HBG1 expression (PubMed:16131492, PubMed:11162141). May have a role in spermatogenesis where it promotes autophagy in response to serum starvation, via the NF-kappaB pathway (By similarity).

Phenotypes From GWAS Catalog for ANKRD49 Gene

Gene Ontology (GO) - Molecular Function for ANKRD49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24855949
genes like me logo Genes that share ontologies with ANKRD49: view
genes like me logo Genes that share phenotypes with ANKRD49: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD49 Gene

Localization for ANKRD49 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD49 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 ANKRD49 gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRD49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC,IEA 16131492
genes like me logo Genes that share ontologies with ANKRD49: view

Pathways & Interactions for ANKRD49 Gene

SuperPathways for ANKRD49 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0045893 positive regulation of transcription, DNA-templated IDA 11162141
genes like me logo Genes that share ontologies with ANKRD49: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD49 Gene

Drugs & Compounds for ANKRD49 Gene

No Compound Related Data Available

Transcripts for ANKRD49 Gene

Unigene Clusters for ANKRD49 Gene

Ankyrin repeat domain 49:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD49 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
SP1: - - - -
SP2: -
SP3:
SP4: - - - - - -
SP5: - - - -
SP6: - - -
SP7: - -
SP8:

Relevant External Links for ANKRD49 Gene

GeneLoc Exon Structure for
ANKRD49
ECgene alternative splicing isoforms for
ANKRD49

Expression for ANKRD49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRD49 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANKRD49 Gene



NURSA nuclear receptor signaling pathways regulating expression of ANKRD49 Gene:

ANKRD49

SOURCE GeneReport for Unigene cluster for ANKRD49 Gene:

Hs.29052

mRNA Expression by UniProt/SwissProt for ANKRD49 Gene:

Q8WVL7-ANR49_HUMAN
Tissue specificity: Widely expressed in fetus, at a high level in fetal liver, brain and lung.

Evidence on tissue expression from TISSUES for ANKRD49 Gene

  • Liver(4.3)
  • Intestine(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with ANKRD49: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD49 Gene

Orthologs for ANKRD49 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD49 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD49 33 34
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia ANKRD49 33 34
  • 90.48 (n)
cow
(Bos Taurus)
Mammalia ANKRD49 33 34
  • 89.08 (n)
mouse
(Mus musculus)
Mammalia Ankrd49 33 16 34
  • 88.66 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd49 33
  • 86.64 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD49 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD49 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD49 33 34
  • 74.22 (n)
lizard
(Anolis carolinensis)
Reptilia ANKRD49 34
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ankrd49 33 34
  • 55.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(2)35Be 33 34
  • 52.26 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007813 33
  • 50.25 (n)
worm
(Caenorhabditis elegans)
Secernentea F26F4.12 33 34
  • 47.68 (n)
Species where no ortholog for ANKRD49 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ANKRD49 Gene

ENSEMBL:
Gene Tree for ANKRD49 (if available)
TreeFam:
Gene Tree for ANKRD49 (if available)

Paralogs for ANKRD49 Gene

(6) SIMAP similar genes for ANKRD49 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for ANKRD49 Gene

genes like me logo Genes that share paralogs with ANKRD49: view

No data available for Paralogs for ANKRD49 Gene

Variants for ANKRD49 Gene

Sequence variations from dbSNP and Humsavar for ANKRD49 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1060501784 uncertain-significance, Hereditary cancer-predisposing syndrome 94,492,786(+) C/T upstream_transcript_variant
rs1805360 likely-benign, Ataxia-telangiectasia-like disorder 1 94,493,863(+) C/T upstream_transcript_variant
rs1805363 likely-benign, Ataxia-telangiectasia-like disorder 1 94,493,786(+) C/T upstream_transcript_variant
rs183829476 other, Malignant tumor of urinary bladder 94,493,232(+) T/A upstream_transcript_variant
rs397509350 other, Malignant tumor of urinary bladder 94,493,293(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD49 Gene

Variant ID Type Subtype PubMed ID
esv2671948 CNV deletion 23128226
nsv819611 CNV loss 19587683

Variation tolerance for ANKRD49 Gene

Residual Variation Intolerance Score: 39.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD49

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD49 Gene

Disorders for ANKRD49 Gene

Additional Disease Information for ANKRD49

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

No disorders were found for ANKRD49 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD49 Gene

Publications for ANKRD49 Gene

  1. {gamma}-Globin gene expression in chemical inducer of dimerization (CID)-dependent multipotential cells established from human {beta}-globin locus yeast artificial chromosome ({beta}-YAC) transgenic mice. (PMID: 16131492) Blau CA … Peterson KR (The Journal of biological chemistry 2005) 3 4 22 58
  2. Cloning and characterization of a potential transcriptional activator of human gamma-globin genes. (PMID: 11162141) Yang Y … Stamatoyannopoulos G (Blood cells, molecules & diseases 2001) 2 3 4 58
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ANKRD49 Gene

Sources for ANKRD49 Gene

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