Aliases for ANKRD18A Gene

Aliases for ANKRD18A Gene

  • Ankyrin Repeat Domain 18A 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 18A 3 4
  • KIAA2015 4

External Ids for ANKRD18A Gene

Previous GeneCards Identifiers for ANKRD18A Gene

  • GC09U900260
  • GC09M038531
  • GC09M038532
  • GC09M038544
  • GC09M038524
  • GC09M038546
  • GC09M038549
  • GC09M038555
  • GC09M038563
  • GC09M038588
  • GC09M038603
  • GC09M038620
  • GC09M038642
  • GC09M038793
  • GC09M038810
  • GC09M038661
  • GC09M038675
  • GC09M038693
  • GC09M038714
  • GC09M038728
  • GC09M038744
  • GC09M038761
  • GC09M038777

Summaries for ANKRD18A Gene

GeneCards Summary for ANKRD18A Gene

ANKRD18A (Ankyrin Repeat Domain 18A) is a Protein Coding gene. An important paralog of this gene is ANKRD18B.

Additional gene information for ANKRD18A 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 ANKRD18A Gene

Genomics for ANKRD18A Gene

GeneHancer (GH) Regulatory Elements for ANKRD18A Gene

Promoters and enhancers for ANKRD18A 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
GH09J038619 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 762.7 -0.7 -746 4 CTCF LCORL MLX RBPJ POLR2A CTBP1 MIXL1 MYC NFYC RAD21 ANKRD18A FAM201A piR-55577-001 TRMT10B EXOSC3 lnc-ANKRD18A-2
GH09J038642 Enhancer 0.8 Ensembl ENCODE 11.6 -21.7 -21728 0.9 CTCF CTBP1 HLF RAD21 ZBTB33 IKZF1 PKNOX1 ZIC2 PRDM10 TRIM22 YWHABP1 lnc-ANKRD18A-2 RNU6-765P ANKRD18A FAM201A
GH09J038638 Enhancer 0.6 Ensembl 9.7 -19.0 -19046 1.8 ZNF217 MNT NCOA3 FOSL2 CREB1 CTBP1 PKNOX1 DPF2 GATA3 RCOR1 RNU6-765P ANKRD18A SNX18P3 lnc-ANKRD18A-2 FAM201A
GH09J038678 Enhancer 0.3 Ensembl 5.6 -57.2 -57246 0.6 ZIC2 ENSG00000273036 ANKRD18A RF00026-1113 RNU6-765P piR-32903
GH09J038625 Enhancer 0.2 Ensembl 7.4 -5.6 -5646 1 ANKRD18A FAM201A lnc-ANKRD18A-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD18A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD18A gene promoter:
  • COMP1
  • FOXD3
  • FOXI1
  • HFH-3
  • POU2F1
  • POU2F1a

Genomic Locations for ANKRD18A Gene

Genomic Locations for ANKRD18A Gene
chr9:38,542,965-38,620,655
(GRCh38/hg38)
Size:
77,691 bases
Orientation:
Minus strand
chr9:38,540,566-38,620,657
(GRCh37/hg19)
Size:
80,092 bases
Orientation:
Minus strand

Genomic View for ANKRD18A Gene

Genes around ANKRD18A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD18A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD18A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD18A Gene

Proteins for ANKRD18A Gene

  • Protein details for ANKRD18A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVF6-AN18A_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 18A
    Protein Accession:
    Q8IVF6
    Secondary Accessions:
    • A7MD11
    • A8MVU5
    • Q5SY86
    • Q7Z468
    • Q8NA88

    Protein attributes for ANKRD18A Gene

    Size:
    992 amino acids
    Molecular mass:
    115597 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH56266.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAC23111.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKRD18A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD18A Gene

Post-translational modifications for ANKRD18A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD18A Gene

Domains & Families for ANKRD18A Gene

Gene Families for ANKRD18A Gene

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

Suggested Antigen Peptide Sequences for ANKRD18A Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat domain-containing protein 18A (AN18A_HUMAN)
  • cDNA FLJ35740 fis, clone TESTI2004085 (Q8NA88_HUMAN)
genes like me logo Genes that share domains with ANKRD18A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD18A Gene

Function for ANKRD18A Gene

Phenotypes From GWAS Catalog for ANKRD18A Gene

Phenotypes for ANKRD18A Gene

genes like me logo Genes that share phenotypes with ANKRD18A: view

Animal Model Products

CRISPR 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 ANKRD18A Gene

Localization for ANKRD18A 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 ANKRD18A gene
Compartment Confidence
mitochondrion 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKRD18A Gene

Pathways & Interactions for ANKRD18A Gene

PathCards logo

SuperPathways for ANKRD18A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD18A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKRD18A Gene

Drugs & Compounds for ANKRD18A Gene

No Compound Related Data Available

Transcripts for ANKRD18A Gene

mRNA/cDNA for ANKRD18A Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD18A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
SP1:
SP2: -
SP3:
SP4:

Relevant External Links for ANKRD18A Gene

GeneLoc Exon Structure for
ANKRD18A
ECgene alternative splicing isoforms for
ANKRD18A

Expression for ANKRD18A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRD18A Gene

mRNA differential expression in normal tissues according to GTEx for ANKRD18A Gene

This gene is overexpressed in Testis (x7.5) and Brain - Spinal cord (cervical c-1) (x5.6).

Protein differential expression in normal tissues from HIPED for ANKRD18A Gene

This gene is overexpressed in Plasma (33.9) and Urine (26.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD18A Gene



Protein tissue co-expression partners for ANKRD18A Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKRD18A Gene:

ANKRD18A

SOURCE GeneReport for Unigene cluster for ANKRD18A Gene:

Hs.644630
genes like me logo Genes that share expression patterns with ANKRD18A: 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 ANKRD18A Gene

Orthologs for ANKRD18A Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD18A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD18A 33 32
  • 98.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 33
  • 44 (a)
ManyToMany
-- 33
  • 41 (a)
ManyToMany
-- 33
  • 40 (a)
ManyToMany
-- 33
  • 33 (a)
ManyToMany
-- 33
  • 21 (a)
ManyToMany
-- 33
  • 20 (a)
ManyToMany
-- 33
  • 19 (a)
ManyToMany
-- 33
  • 12 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gm1758 33
  • 35 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 33
  • 28 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 14 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 33
  • 17 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 42 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ANKRD7 33
  • 12 (a)
OneToMany
Species where no ortholog for ANKRD18A 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 ANKRD18A Gene

ENSEMBL:
Gene Tree for ANKRD18A (if available)
TreeFam:
Gene Tree for ANKRD18A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD18A: view image

Paralogs for ANKRD18A Gene

(15) SIMAP similar genes for ANKRD18A Gene using alignment to 4 proteins:

  • AN18A_HUMAN
  • Q6QA70_HUMAN
  • Q8NA88_HUMAN
  • R4GN29_HUMAN
genes like me logo Genes that share paralogs with ANKRD18A: view

Variants for ANKRD18A Gene

Sequence variations from dbSNP and Humsavar for ANKRD18A Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000011424 -- 38,583,903(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000073092 -- 38,577,467(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000078186 -- 38,585,303(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000195640 -- 38,608,149(-) TATTATTAT/TATTAT intron_variant
rs1000224278 -- 38,601,281(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD18A Gene

Variant ID Type Subtype PubMed ID
dgv261e55 CNV loss 17911159
esv27275 CNV loss 19812545
esv3620429 CNV loss 21293372
nsv1020605 CNV gain 25217958
nsv1028978 CNV loss 25217958
nsv1125318 OTHER inversion 24896259
nsv428211 CNV loss 18775914
nsv6539 CNV insertion 18451855
nsv8445 CNV gain+loss 18304495
nsv982218 CNV duplication 23825009

Variation tolerance for ANKRD18A Gene

Gene Damage Index Score: 13.27; 95.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD18A Gene

Human Gene Mutation Database (HGMD)
ANKRD18A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD18A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD18A Gene

Disorders for ANKRD18A Gene

Additional Disease Information for ANKRD18A

No disorders were found for ANKRD18A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD18A Gene

Publications for ANKRD18A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  2. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. (PMID: 25158072) Yu D … Pauls DL (The American journal of psychiatry 2015) 3 56
  5. ANKRD18A as a novel epigenetic regulation gene in lung cancer. (PMID: 23131552) Liu WB … Liu JY (Biochemical and biophysical research communications 2012) 3 56

Products for ANKRD18A Gene

Sources for ANKRD18A Gene