Aliases for KIAA0825 Gene

Aliases for KIAA0825 Gene

  • KIAA0825 2 3 5
  • Uncharacterized Protein KIAA0825 3 4
  • C5orf36 3 4
  • Chromosome 5 Open Reading Frame 36 2
  • DKFZp686F0372 2
  • MGC34713 2
  • PAPA10 3

External Ids for KIAA0825 Gene

Previous HGNC Symbols for KIAA0825 Gene

  • C5orf36

Previous GeneCards Identifiers for KIAA0825 Gene

  • GC05M092772
  • GC05M093777
  • GC05U900474
  • GC05M093562
  • GC05M093514

Summaries for KIAA0825 Gene

GeneCards Summary for KIAA0825 Gene

KIAA0825 (KIAA0825) is a Protein Coding gene. Diseases associated with KIAA0825 include Polydactyly, Postaxial, Type A10 and Polydactyly, Postaxial, Type A1.

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 KIAA0825 Gene

Genomics for KIAA0825 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIAA0825 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
GH05J094616 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 607.3 +0.1 76 3.4 HNRNPL CREB1 PRDM10 REST ZNF629 RFX1 SIX5 IKZF1 BACH1 LARP7 KIAA0825 ENSG00000270133 NONHSAG041036.2 RPL7P18 SLF1 RF00017-4795
GH05J094568 Promoter 0.3 EPDnew 610.7 +50.2 50213 0.1 KIAA0825 AF465954-001 AY243877-001 MTCYBP35 MTND5P12 MTND6P3 lnc-MCTP1-2 lnc-SLF1-5 lnc-SLF1-6 piR-57125-001
GH05J094698 Enhancer 0.9 FANTOM5 Ensembl 20.2 -80.3 -80253 2.5 PKNOX1 POLR2A BRCA1 CEBPB CHD2 OSR2 JUN JUND MAX DEK KIAA0825 SLF1 lnc-KIAA0825-2 RF00017-4795 MCTP1
GH05J094703 Enhancer 0.9 FANTOM5 Ensembl 20.1 -84.1 -84063 1.3 TCF12 IKZF2 RCOR1 PKNOX1 EED ARID3A RELB RUNX3 ZBTB40 CBFB KIAA0825 SLF1 lnc-KIAA0825-2 RF00017-4795 MCTP1
GH05J094690 Enhancer 1 Ensembl ENCODE 17.7 -73.9 -73900 3.8 CTCF ZNF629 RFX1 ZNF692 ZIC2 ZSCAN4 REST RAD21 TRIM22 JUND KIAA0825 SLF1 lnc-KIAA0825-2 RF00017-4795 MCTP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIAA0825 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIAA0825

Genomic Locations for KIAA0825 Gene

Genomic Locations for KIAA0825 Gene
chr5:94,150,856-94,618,604
(GRCh38/hg38)
Size:
467,749 bases
Orientation:
Minus strand
chr5:93,486,556-93,954,309
(GRCh37/hg19)
Size:
467,754 bases
Orientation:
Minus strand

Genomic View for KIAA0825 Gene

Genes around KIAA0825 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIAA0825 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIAA0825 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA0825 Gene

Proteins for KIAA0825 Gene

  • Protein details for KIAA0825 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IV33-K0825_HUMAN
    Recommended name:
    Uncharacterized protein KIAA0825
    Protein Accession:
    Q8IV33
    Secondary Accessions:
    • A0A088AWM3
    • O94914
    • Q6ZNN2

    Protein attributes for KIAA0825 Gene

    Size:
    1275 amino acids
    Molecular mass:
    147735 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC85469.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BF514032; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA0825 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA0825 Gene

Post-translational modifications for KIAA0825 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIAA0825 Gene

Domains & Families for KIAA0825 Gene

Gene Families for KIAA0825 Gene

Protein Domains for KIAA0825 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with KIAA0825: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KIAA0825 Gene

Function for KIAA0825 Gene

Phenotypes From GWAS Catalog for KIAA0825 Gene

genes like me logo Genes that share phenotypes with KIAA0825: view

Human Phenotype Ontology for KIAA0825 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIAA0825 Gene

MGI Knock Outs for KIAA0825:

Animal Model Products

CRISPR Products

miRNA for KIAA0825 Gene

miRTarBase miRNAs that target KIAA0825

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIAA0825

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KIAA0825 Gene

Localization for KIAA0825 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 KIAA0825 gene
Compartment Confidence
cytosol 3
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
mitochondrion 0
lysosome 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for KIAA0825 Gene

Pathways & Interactions for KIAA0825 Gene

PathCards logo

SuperPathways for KIAA0825 Gene

No Data Available

Interacting Proteins for KIAA0825 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q8IV33-K0825_HUMAN ENSP00000331385 for KIAA0825 Gene via UniProtKB STRING IID

Gene Ontology (GO) - Biological Process for KIAA0825 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KIAA0825 Gene

Drugs & Compounds for KIAA0825 Gene

No Compound Related Data Available

Transcripts for KIAA0825 Gene

mRNA/cDNA for KIAA0825 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 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 KIAA0825

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0825 Gene

No ASD Table

Relevant External Links for KIAA0825 Gene

GeneLoc Exon Structure for
KIAA0825

Expression for KIAA0825 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIAA0825 Gene

mRNA differential expression in normal tissues according to GTEx for KIAA0825 Gene

This gene is overexpressed in Whole Blood (x5.5).

Protein differential expression in normal tissues from HIPED for KIAA0825 Gene

This gene is overexpressed in Urinary Bladder (38.3) and Rectum (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KIAA0825 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIAA0825

SOURCE GeneReport for Unigene cluster for KIAA0825 Gene:

Hs.425123
genes like me logo Genes that share expression patterns with KIAA0825: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 KIAA0825 Gene

Orthologs for KIAA0825 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA0825 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC461751 30
  • 99.23 (n)
KIAA0825 31
  • 25 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA0825 30 31
  • 89.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIAA0825 30 31
  • 88.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia 2210408I21Rik 30 17 31
  • 80.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1560883 30
  • 79.89 (n)
Oppossum
(Monodelphis domestica)
Mammalia KIAA0825 31
  • 18 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA0825 31
  • 15 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA0825 30 31
  • 72.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA0825 31
  • 14 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa0825 30
  • 58.41 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC798741 30
  • 52.44 (n)
KIAA0825 31
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG14085 31
  • 1 (a)
OneToOne
Species where no ortholog for KIAA0825 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)
  • 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 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KIAA0825 Gene

ENSEMBL:
Gene Tree for KIAA0825 (if available)
TreeFam:
Gene Tree for KIAA0825 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIAA0825: view image

Paralogs for KIAA0825 Gene

No data available for Paralogs for KIAA0825 Gene

Variants for KIAA0825 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIAA0825 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
599402 Pathogenic: Postaxial polydactyly type A1; POLYDACTYLY, POSTAXIAL, TYPE A10 94,462,460(-) T/A NONSENSE
599403 Pathogenic: Postaxial polydactyly type A1; POLYDACTYLY, POSTAXIAL, TYPE A10 94,520,626(-) G/GT FRAMESHIFT_VARIANT
rs2044909 - p.Lys46Glu

Additional dbSNP identifiers (rs#s) for KIAA0825 Gene

Structural Variations from Database of Genomic Variants (DGV) for KIAA0825 Gene

Variant ID Type Subtype PubMed ID
dgv3129n106 CNV deletion 24896259
dgv347n21 CNV loss 19592680
dgv955n67 CNV loss 20364138
dgv956n67 CNV loss 20364138
esv1713122 OTHER inversion 17803354
esv2138679 CNV deletion 18987734
esv2382280 CNV deletion 18987734
esv2534212 CNV deletion 19546169
esv2667701 CNV deletion 23128226
esv2730470 CNV deletion 23290073
esv2730471 CNV deletion 23290073
esv2730474 CNV deletion 23290073
esv2759354 CNV loss 17122850
esv29725 CNV loss 19812545
esv32708 CNV gain 17666407
esv3566287 CNV deletion 23714750
esv3570253 CNV loss 25503493
esv3605816 CNV loss 21293372
esv3605819 CNV loss 21293372
esv3605820 CNV loss 21293372
esv3605821 CNV loss 21293372
esv5260 CNV loss 18987735
esv5853 CNV loss 19470904
nsv1033608 CNV loss 25217958
nsv10715 CNV loss 18304495
nsv1073906 CNV deletion 25765185
nsv1140557 CNV deletion 24896259
nsv1140558 CNV deletion 24896259
nsv327822 CNV deletion 16902084
nsv327963 CNV deletion 16902084
nsv4919 CNV deletion 18451855
nsv513248 CNV loss 21212237
nsv518269 CNV loss 19592680
nsv598950 CNV loss 21841781
nsv598951 CNV loss 21841781
nsv598952 CNV loss 21841781
nsv819118 CNV loss 19587683
nsv820630 CNV duplication 20802225
nsv823134 CNV loss 20364138
nsv823135 CNV gain 20364138
nsv823140 CNV loss 20364138
nsv823141 CNV loss 20364138
nsv830406 CNV gain 17160897
nsv956458 CNV deletion 24416366
nsv964906 CNV duplication 23825009

Variation tolerance for KIAA0825 Gene

Residual Variation Intolerance Score: 58.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.34; 90.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIAA0825 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIAA0825

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIAA0825 Gene

Disorders for KIAA0825 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KIAA0825 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polydactyly, postaxial, type a10
  • papa10
polydactyly, postaxial, type a1
  • papa1
polydactyly
  • polydactyly, postaxial
periventricular nodular heterotopia
  • periventricular heterotopia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

K0825_HUMAN
  • Polydactyly, postaxial, A10 (PAPA10) [MIM:618498]: A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA10 is an autosomal recessive condition characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed. {ECO:0000269 PubMed:30982135}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with KIAA0825: view

No data available for Genatlas for KIAA0825 Gene

Publications for KIAA0825 Gene

  1. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. (PMID: 30982135) Ullah I … Leal SM (Human genetics 2019) 3 4
  2. Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. (PMID: 27381092) Schilit SL … Morton CC (European journal of human genetics : EJHG 2016) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4

Products for KIAA0825 Gene

Sources for KIAA0825 Gene