Aliases for ANKRD39 Gene

Aliases for ANKRD39 Gene

  • Ankyrin Repeat Domain 39 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 39 3 4

External Ids for ANKRD39 Gene

Previous GeneCards Identifiers for ANKRD39 Gene

  • GC02M096936
  • GC02M096865
  • GC02M096877
  • GC02M097502
  • GC02M091473

Summaries for ANKRD39 Gene

GeneCards Summary for ANKRD39 Gene

ANKRD39 (Ankyrin Repeat Domain 39) is a Protein Coding gene. Diseases associated with ANKRD39 include Perrault Syndrome. An important paralog of this gene is CDKN2C.

Additional gene information for ANKRD39 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 ANKRD39 Gene

Genomics for ANKRD39 Gene

GeneHancer (GH) Regulatory Elements for ANKRD39 Gene

Promoters and enhancers for ANKRD39 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
GH02J096856 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -0.5 -475 3.8 EP300 FOXK2 ZNF217 CTCF POLR2G SP1 PHF8 FOS ZFX POLR2A ANKRD23 ANKRD39 SNRNP200 KANSL3 CNNM3 LMAN2L ANKRD36 CIAO1 ANKRD36B ACTR1B
GH02J096848 Promoter/Enhancer 1 EPDnew ENCODE 500.4 +9.6 9630 0.7 SKI USF1 SAP130 POLR2A NR2F2 SMAD4 RAD21 RXRA RARA KDM1A ANKRD39 ANKRD23 lnc-ANKRD23-1
GH02J096905 Enhancer 1 ENCODE CraniofacialAtlas dbSUPER 13.1 -49.2 -49201 2.5 ZNF217 USF1 ZFX ZIC2 NEUROD1 YY1 NR2F2 ZFHX2 MYC NFIB FAM178B SEMA4C ANKRD23 ANKRD39 SNRNP200 ENSG00000286654 HSALNG0017094
GH02J096908 Enhancer 0.3 Ensembl dbSUPER 12 -51.7 -51682 0.6 SEMA4C ANKRD23 ANKRD39 FAM178B SNRNP200 ENSG00000286654 HSALNG0017094
GH02J096910 Enhancer 0.3 Ensembl dbSUPER 12 -52.4 -52382 0.4 SEMA4C ANKRD23 ANKRD39 FAM178B SNRNP200 ENSG00000286654 HSALNG0017094
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD39 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD39

Top Transcription factor binding sites by QIAGEN in the ANKRD39 gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • STAT5B

Genomic Locations for ANKRD39 Gene

Genomic Locations for ANKRD39 Gene
chr2:96,836,611-96,858,019
(GRCh38/hg38)
Size:
21,409 bases
Orientation:
Minus strand
chr2:97,502,348-97,523,832
(GRCh37/hg19)
Size:
21,485 bases
Orientation:
Minus strand

Genomic View for ANKRD39 Gene

Genes around ANKRD39 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD39 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD39 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD39 Gene

Proteins for ANKRD39 Gene

  • Protein details for ANKRD39 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53RE8-ANR39_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 39
    Protein Accession:
    Q53RE8
    Secondary Accessions:
    • Q59FU2
    • Q8N5X5
    • Q9P0S5

    Protein attributes for ANKRD39 Gene

    Size:
    183 amino acids
    Molecular mass:
    19651 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF36120.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAD92604.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ANKRD39 Gene

Post-translational modifications for ANKRD39 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD39 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKRD39 Gene

Domains & Families for ANKRD39 Gene

Gene Families for ANKRD39 Gene

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

Protein Domains for ANKRD39 Gene

Suggested Antigen Peptide Sequences for ANKRD39 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat domain-containing protein 39 (ANR39_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53RE8

UniProtKB/Swiss-Prot:

ANR39_HUMAN :
  • Belongs to the ANKRD39 family.
Family:
  • Belongs to the ANKRD39 family.
genes like me logo Genes that share domains with ANKRD39: view

Function for ANKRD39 Gene

Phenotypes From GWAS Catalog for ANKRD39 Gene

Gene Ontology (GO) - Molecular Function for ANKRD39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ANKRD39: view
genes like me logo Genes that share phenotypes with ANKRD39: view

Animal Model Products

CRISPR Products

miRNA for ANKRD39 Gene

miRTarBase miRNAs that target ANKRD39

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD39 Gene

Localization for ANKRD39 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 ANKRD39 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ANKRD39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with ANKRD39: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANKRD39 Gene

Pathways & Interactions for ANKRD39 Gene

PathCards logo

SuperPathways for ANKRD39 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ANKRD39: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD39 Gene

Drugs & Compounds for ANKRD39 Gene

No Compound Related Data Available

Transcripts for ANKRD39 Gene

mRNA/cDNA for ANKRD39 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD39 Gene

No ASD Table

Relevant External Links for ANKRD39 Gene

GeneLoc Exon Structure for
ANKRD39

Expression for ANKRD39 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD39 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD39 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD39

SOURCE GeneReport for Unigene cluster for ANKRD39 Gene:

Hs.709507
genes like me logo Genes that share expression patterns with ANKRD39: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD39 Gene

Orthologs for ANKRD39 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD39 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD39 31 30
  • 99.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD39 31 30
  • 88.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd39 17 31 30
  • 87.07 (n)
dog
(Canis familiaris)
Mammalia ANKRD39 31 30
  • 87.07 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd39 30
  • 86.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD39 31
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD39 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd39 30
  • 58.81 (n)
Str.15021 30
zebrafish
(Danio rerio)
Actinopterygii ankrd39 31 30
  • 58.28 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG44001 30
  • 55.35 (n)
CG31919 31
  • 23 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009205 30
  • 50.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for ANKRD39 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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 ANKRD39 Gene

ENSEMBL:
Gene Tree for ANKRD39 (if available)
TreeFam:
Gene Tree for ANKRD39 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD39: view image

Paralogs for ANKRD39 Gene

Paralogs for ANKRD39 Gene

(9) SIMAP similar genes for ANKRD39 Gene using alignment to 1 proteins:

  • ANR39_HUMAN

Pseudogenes.org Pseudogenes for ANKRD39 Gene

genes like me logo Genes that share paralogs with ANKRD39: view

Variants for ANKRD39 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD39 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs17852947 - p.Ala113Thr

Additional dbSNP identifiers (rs#s) for ANKRD39 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD39 Gene

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv3591694 CNV loss 21293372
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv526313 CNV loss 19592680

Variation tolerance for ANKRD39 Gene

Residual Variation Intolerance Score: 65.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD39 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD39

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD39 Gene

Disorders for ANKRD39 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKRD39 Gene - From: DISEASES

Disorder Aliases PubMed IDs
perrault syndrome
  • gonadal dysgenesis, xx type
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKRD39

genes like me logo Genes that share disorders with ANKRD39: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD39 Gene

Publications for ANKRD39 Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4 54
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54
  3. 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 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways. (PMID: 26972000) Rodriguez J … von Kriegsheim A (Cell reports 2016) 3 54

Products for ANKRD39 Gene

Sources for ANKRD39 Gene