This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017] See more...

Aliases for ANKRD31 Gene

Aliases for ANKRD31 Gene

  • Ankyrin Repeat Domain 31 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 31 3 4
  • Putative Ankyrin Repeat Domain-Containing Protein 31 3

External Ids for ANKRD31 Gene

Previous GeneCards Identifiers for ANKRD31 Gene

  • GC05M074460
  • GC05M074399
  • GC05M074477
  • GC05M074364
  • GC05M069568

Summaries for ANKRD31 Gene

Entrez Gene Summary for ANKRD31 Gene

  • This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]

GeneCards Summary for ANKRD31 Gene

ANKRD31 (Ankyrin Repeat Domain 31) is a Protein Coding gene. Diseases associated with ANKRD31 include Rett Syndrome and Pitt-Hopkins Syndrome. An important paralog of this gene is ANKRD36C.

UniProtKB/Swiss-Prot Summary for ANKRD31 Gene

  • Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes.

Additional gene information for ANKRD31 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD31 Gene

Genomics for ANKRD31 Gene

GeneHancer (GH) Regulatory Elements for ANKRD31 Gene

Promoters and enhancers for ANKRD31 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
GH05J075235 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 500.7 +0.2 199 2.2 EP300 CTCF SIN3A NRF1 POLR2G USF1 SP1 PHF8 ZFX ZNF10 ANKRD31 lnc-HMGCR-4 ANKDD1B GCNT4 piR-45035-149 RF00017-4726
GH05J075049 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 +183.5 183471 7.2 CTCF ZSCAN5C USF1 TEAD4 ZFX POLR2A GABPA ZBTB26 REST ZBTB25 GCNT4 LINC01336 ENSG00000272040 ANKRD31 ENSG00000242198 RF00017-4726
GH05J075057 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 16.5 +177.5 177470 4.6 FOXA2 GATA3 ZNF664 GATA2 SP7 FOXA1 GCNT4 ANKRD31 ANKDD1B FAM169A LINC01336 piR-34009-021 RF00017-4726
GH05J074953 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 +280.5 280503 6.4 EP300 NCOR1 FOS KDM6A TCF7 SKI TEAD1 TBX3 ZKSCAN8 NR2F2 GCNT4 ANKRD31 LOC105379040 lnc-NSA2-1 piR-50444-367 ENSG00000249856
GH05J074947 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 11.4 +287.7 287715 4.3 FOXK2 NCOR1 TEAD4 SKI TEAD1 ZNF316 FOXA2 MAFF SAP130 FOSL2 LOC105379040 lnc-NSA2-1 ANKRD31 GCNT4 POC5 piR-50444-367 ENSG00000249856
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD31 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD31

Top Transcription factor binding sites by QIAGEN in the ANKRD31 gene promoter:
  • AP-1
  • COMP1
  • CP2
  • Lmo2
  • Nkx6-1
  • Olf-1

Genomic Locations for ANKRD31 Gene

Genomic Locations for ANKRD31 Gene
chr5:75,068,275-75,236,887
(GRCh38/hg38)
Size:
168,613 bases
Orientation:
Minus strand
chr5:74,364,100-74,532,703
(GRCh37/hg19)
Size:
168,604 bases
Orientation:
Minus strand

Genomic View for ANKRD31 Gene

Genes around ANKRD31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD31 Gene

Proteins for ANKRD31 Gene

  • Protein details for ANKRD31 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7Z5-ANR31_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 31
    Protein Accession:
    Q8N7Z5

    Protein attributes for ANKRD31 Gene

    Size:
    1873 amino acids
    Molecular mass:
    210816 Da
    Quaternary structure:
    • Interacts with REC114; the interaction is direct. Interacts with CCDC36/IHO1.

neXtProt entry for ANKRD31 Gene

Post-translational modifications for ANKRD31 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD31 Gene

Domains & Families for ANKRD31 Gene

Gene Families for ANKRD31 Gene

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

Protein Domains for ANKRD31 Gene

Blocks:
  • Ankyrin repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKRD31 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat domain-containing protein 31 (ANR31_HUMAN)
genes like me logo Genes that share domains with ANKRD31: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD31 Gene

Function for ANKRD31 Gene

Molecular function for ANKRD31 Gene

UniProtKB/Swiss-Prot Function:
Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes.

Phenotypes From GWAS Catalog for ANKRD31 Gene

Gene Ontology (GO) - Molecular Function for ANKRD31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ANKRD31: view
genes like me logo Genes that share phenotypes with ANKRD31: view

Animal Model Products

CRISPR Products

miRNA for ANKRD31 Gene

miRTarBase miRNAs that target ANKRD31

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD31 Gene

Localization for ANKRD31 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD31 Gene

Nucleus. Chromosome. Note=Localizes on chromatin between preleptotene and early pachytene. Associates with the chromosome axes, but disapears from axes upon synaptonemal complex formation. {ECO:0000250 UniProtKB:A0A140LI88}.

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 ANKRD31 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for ANKRD31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISS --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with ANKRD31: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANKRD31 Gene

Pathways & Interactions for ANKRD31 Gene

PathCards logo

SuperPathways for ANKRD31 Gene

No Data Available

Interacting Proteins for ANKRD31 Gene

;

Gene Ontology (GO) - Biological Process for ANKRD31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006310 DNA recombination IEA --
GO:0007129 synapsis ISS,IEA --
GO:0010780 meiotic DNA double-strand break formation involved in reciprocal meiotic recombination IEA,ISS --
GO:0051321 meiotic cell cycle IEA --
GO:1903343 positive regulation of meiotic DNA double-strand break formation IEA,ISS --
genes like me logo Genes that share ontologies with ANKRD31: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD31 Gene

Drugs & Compounds for ANKRD31 Gene

No Compound Related Data Available

Transcripts for ANKRD31 Gene

mRNA/cDNA for ANKRD31 Gene

2 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
3 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 ANKRD31 Gene

No ASD Table

Relevant External Links for ANKRD31 Gene

GeneLoc Exon Structure for
ANKRD31

Expression for ANKRD31 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD31 Gene

mRNA differential expression in normal tissues according to GTEx for ANKRD31 Gene

This gene is overexpressed in Testis (x19.9).

Protein differential expression in normal tissues from HIPED for ANKRD31 Gene

This gene is overexpressed in Platelet (30.2), Gallbladder (16.9), Blymphocyte (14.2), and Kidney (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD31 Gene



Protein tissue co-expression partners for ANKRD31 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD31

SOURCE GeneReport for Unigene cluster for ANKRD31 Gene:

Hs.482533
genes like me logo Genes that share expression patterns with ANKRD31: 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 ANKRD31 Gene

Orthologs for ANKRD31 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ANKRD31 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD31 31 30
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD31 31 30
  • 82.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD31 31 30
  • 80.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd31 17 30
  • 73.1 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD31 31
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD31 31
  • 22 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD31 31
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD31 31
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ankrd31 31
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOS4 31
  • 12 (a)
OneToMany
Species where no ortholog for ANKRD31 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rat (Rattus norvegicus)
  • 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 ANKRD31 Gene

ENSEMBL:
Gene Tree for ANKRD31 (if available)
TreeFam:
Gene Tree for ANKRD31 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD31: view image

Paralogs for ANKRD31 Gene

Paralogs for ANKRD31 Gene

(4) SIMAP similar genes for ANKRD31 Gene using alignment to 3 proteins:

  • ANR31_HUMAN
  • D6RJB7_HUMAN
  • L8E6U2_HUMAN
genes like me logo Genes that share paralogs with ANKRD31: view

Variants for ANKRD31 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD31 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs567553089 Likely Benign: Long QT syndrome 75,195,905(-) C/T MISSENSE_VARIANT
rs1422698 - p.Asp702Asn
rs4489037 - p.Arg1777Lys
rs6893216 - p.Arg758Gly
rs961098 - p.Asp1609Glu

Additional dbSNP identifiers (rs#s) for ANKRD31 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD31 Gene

Variant ID Type Subtype PubMed ID
esv2759350 CNV loss 17122850
esv3605442 CNV loss 21293372
nsv327808 CNV deletion 16902084
nsv4879 CNV insertion 18451855
nsv4880 CNV insertion 18451855
nsv509073 CNV insertion 20534489

Variation tolerance for ANKRD31 Gene

Gene Damage Index Score: 10.83; 91.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD31 Gene

Human Gene Mutation Database (HGMD)
ANKRD31
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD31 Gene

Disorders for ANKRD31 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ANKRD31 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
rett syndrome
  • rtt
pitt-hopkins syndrome
  • phs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKRD31

genes like me logo Genes that share disorders with ANKRD31: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD31 Gene

Publications for ANKRD31 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  2. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. (PMID: 27541642) Lucariello M … Esteller M (Human genetics 2016) 3 54
  3. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PMID: 22952603) Hart AB … Palmer AA (PloS one 2012) 3 54
  4. Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. (PMID: 18802019) Burkhardt R … Breslow JL (Arteriosclerosis, thrombosis, and vascular biology 2008) 41 54
  5. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PMID: 17903300) Fox CS … Atwood LD (BMC medical genetics 2007) 41 54

Products for ANKRD31 Gene

Sources for ANKRD31 Gene