Aliases for ANKRD34C Gene

Aliases for ANKRD34C Gene

  • Ankyrin Repeat Domain 34C 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 34C 3 4
  • ANKRD34C 5

External Ids for ANKRD34C Gene

Previous GeneCards Identifiers for ANKRD34C Gene

  • GC15P077372
  • GC15P079585
  • GC15P056333

Summaries for ANKRD34C Gene

GeneCards Summary for ANKRD34C Gene

ANKRD34C (Ankyrin Repeat Domain 34C) is a Protein Coding gene. Diseases associated with ANKRD34C include Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects. An important paralog of this gene is ASZ1.

Additional gene information for ANKRD34C 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 ANKRD34C Gene

Genomics for ANKRD34C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKRD34C 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
GH15J079283 Promoter 1.3 EPDnew Ensembl 600.7 +1.2 1179 0.2 REST TFE3 TARDBP ZNF143 PATZ1 EZH2 ZNF341 ZNF512B ZBTB26 ZBTB48 ANKRD34C ANKRD34C-AS1 lnc-RASGRF1-6 TMED3
GH15J079314 Enhancer 0.9 Ensembl ENCODE 10.9 +32.1 32121 0.9 TARDBP ZNF512B CTBP1 ESRRA ZNF592 PKNOX1 ZNF217 GATAD2B CUX1 ELK1 ANKRD34C TMED3 ENSG00000287408 MINAR1
GH15J079178 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.1 -103.5 -103517 2 RNF2 CREB1 GATAD2A ZNF629 LEF1 ZNF692 JUND MTA2 ZIC2 ZSCAN4 ENSG00000259562 IREB2 RASGRF1 PSMA4 lnc-RASGRF1-5 MIR184 ANKRD34C ANKRD34C-AS1
GH15J079192 Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.2 -89.9 -89921 2 ZNF316 MAFF USF1 MAFK ZFX EZH2 RASGRF1 LOC100129540 ENSG00000261762 MIR184 lnc-RASGRF1-5 ANKRD34C ANKRD34C-AS1
GH15J079168 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.1 -111.7 -111706 5.4 CTCF PRDM10 TFE3 RFX1 PRDM1 ZIC2 POLR2A ZNF600 SOX6 MNT RASGRF1 lnc-RASGRF1-5 MIR184 ANKRD34C ANKRD34C-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD34C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD34C

Top Transcription factor binding sites by QIAGEN in the ANKRD34C gene promoter:
  • AREB6
  • c-Myc
  • Max1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Zic3

Genomic Locations for ANKRD34C Gene

Genomic Locations for ANKRD34C Gene
chr15:79,282,722-79,298,239
(GRCh38/hg38)
Size:
15,518 bases
Orientation:
Plus strand
chr15:79,575,146-79,590,581
(GRCh37/hg19)
Size:
15,436 bases
Orientation:
Plus strand

Genomic View for ANKRD34C Gene

Genes around ANKRD34C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD34C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD34C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD34C Gene

Proteins for ANKRD34C Gene

  • Protein details for ANKRD34C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C6C1-AN34C_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 34C
    Protein Accession:
    P0C6C1
    Secondary Accessions:
    • H3BNM1

    Protein attributes for ANKRD34C Gene

    Size:
    535 amino acids
    Molecular mass:
    58256 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ANKRD34C Gene

Post-translational modifications for ANKRD34C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD34C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKRD34C Gene

Domains & Families for ANKRD34C Gene

Gene Families for ANKRD34C Gene

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

Protein Domains for ANKRD34C Gene

Suggested Antigen Peptide Sequences for ANKRD34C Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat domain-containing protein 34C (AN34C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0C6C1

UniProtKB/Swiss-Prot:

AN34C_HUMAN :
  • Belongs to the ANKRD34 family.
Family:
  • Belongs to the ANKRD34 family.
genes like me logo Genes that share domains with ANKRD34C: view

Function for ANKRD34C Gene

Phenotypes From GWAS Catalog for ANKRD34C Gene

Gene Ontology (GO) - Molecular Function for ANKRD34C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ANKRD34C: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD34C

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ANKRD34C Gene

Localization for ANKRD34C 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 ANKRD34C gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKRD34C Gene

Pathways & Interactions for ANKRD34C Gene

PathCards logo

SuperPathways for ANKRD34C Gene

No Data Available

Interacting Proteins for ANKRD34C Gene

Selected Interacting proteins: P0C6C1-AN34C_HUMAN for ANKRD34C Gene via IID

Symbol External ID(s) Details
MIB1

Gene Ontology (GO) - Biological Process for ANKRD34C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKRD34C Gene

Drugs & Compounds for ANKRD34C Gene

No Compound Related Data Available

Transcripts for ANKRD34C Gene

mRNA/cDNA for ANKRD34C Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD34C

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD34C Gene

No ASD Table

Relevant External Links for ANKRD34C Gene

GeneLoc Exon Structure for
ANKRD34C

Expression for ANKRD34C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD34C Gene

mRNA differential expression in normal tissues according to GTEx for ANKRD34C Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x8.1), Brain - Hypothalamus (x7.3), Brain - Frontal Cortex (BA9) (x6.3), Brain - Cerebellum (x5.8), Brain - Cortex (x4.5), and Brain - Anterior cingulate cortex (BA24) (x4.5).

Protein differential expression in normal tissues from HIPED for ANKRD34C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (61.2) and Retina (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD34C Gene



Protein tissue co-expression partners for ANKRD34C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD34C

SOURCE GeneReport for Unigene cluster for ANKRD34C Gene:

Hs.531231
genes like me logo Genes that share expression patterns with ANKRD34C: view

Primer Products

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 ANKRD34C Gene

Orthologs for ANKRD34C Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD34C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ANKRD34C 30 31
  • 99.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ankrd34c 30
  • 86.68 (n)
Mouse
(Mus musculus)
Mammalia Ankrd34c 30 17 31
  • 86.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANKRD34C 30 31
  • 85.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ANKRD34C 30 31
  • 84.52 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANKRD34C 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ANKRD34C 30 31
  • 65.09 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ANKRD34C 31
  • 64 (a)
OneToOne
LOC566743 30
  • 63.93 (n)
Species where no ortholog for ANKRD34C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Lizard (Anolis carolinensis)
  • 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 Vase (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 ANKRD34C Gene

ENSEMBL:
Gene Tree for ANKRD34C (if available)
TreeFam:
Gene Tree for ANKRD34C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD34C: view image

Paralogs for ANKRD34C Gene

Paralogs for ANKRD34C Gene

(2) SIMAP similar genes for ANKRD34C Gene using alignment to 1 proteins:

  • AN34C_HUMAN
genes like me logo Genes that share paralogs with ANKRD34C: view

Variants for ANKRD34C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD34C Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs410400 - p.Pro369Arg
rs422777 - p.Leu442Ile
rs449340 - p.Pro427His

Additional dbSNP identifiers (rs#s) for ANKRD34C Gene

Variation tolerance for ANKRD34C Gene

Gene Damage Index Score: 1.71; 32.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD34C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD34C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ANKRD34C Gene

Disorders for ANKRD34C Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKRD34C Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ANKRD34C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD34C Gene

Publications for ANKRD34C Gene

  1. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3
  2. USP45 and Spindly are part of the same complex implicated in cell migration. (PMID: 30258100) Conte C … Perez-Oliva AB (Scientific reports 2018) 3
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3

Products for ANKRD34C Gene

Sources for ANKRD34C Gene