Aliases for C12orf29 Gene

Aliases for C12orf29 Gene

  • Chromosome 12 Open Reading Frame 29 2 3 5
  • Uncharacterized Protein C12orf29 3 4
  • DKFZp434N2030 2
  • C12orf29 5

External Ids for C12orf29 Gene

Previous GeneCards Identifiers for C12orf29 Gene

  • GC12U900525
  • GC12P086953
  • GC12P088429
  • GC12P085496

Summaries for C12orf29 Gene

GeneCards Summary for C12orf29 Gene

C12orf29 (Chromosome 12 Open Reading Frame 29) is a Protein Coding gene. Diseases associated with C12orf29 include Juvenile Nephronophthisis and Meckel Syndrome, Type 1.

Additional gene information for C12orf29 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 C12orf29 Gene

Genomics for C12orf29 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C12orf29 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf29 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf29

Top Transcription factor binding sites by QIAGEN in the C12orf29 gene promoter:
  • C/EBPbeta
  • E4BP4
  • FOXD3
  • FOXF2
  • HSF1 (long)
  • HSF1short
  • POU2F1
  • POU2F1a

Genomic Locations for C12orf29 Gene

Latest Assembly
chr12:88,033,846-88,050,160
(GRCh38/hg38)
Size:
16,315 bases
Orientation:
Plus strand

Previous Assembly
chr12:88,429,313-88,443,937
(GRCh37/hg19 by Entrez Gene)
Size:
14,625 bases
Orientation:
Plus strand

chr12:88,427,623-88,443,937
(GRCh37/hg19 by Ensembl)
Size:
16,315 bases
Orientation:
Plus strand

Genomic View for C12orf29 Gene

Genes around C12orf29 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf29 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf29 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf29 Gene

Proteins for C12orf29 Gene

  • Protein details for C12orf29 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N999-CL029_HUMAN
    Recommended name:
    Uncharacterized protein C12orf29
    Protein Accession:
    Q8N999
    Secondary Accessions:
    • Q569K5
    • Q6AWA8
    • Q6PEK5
    • Q8IYQ5
    • Q9NT75

    Protein attributes for C12orf29 Gene

    Size:
    325 amino acids
    Molecular mass:
    37490 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH35136.2; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAH58014.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

    Alternative splice isoforms for C12orf29 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C12orf29 Gene

Post-translational modifications for C12orf29 Gene

  • Ubiquitination at Lys212
  • Modification sites at PhosphoSitePlus

Other Protein References for C12orf29 Gene

No data available for DME Specific Peptides for C12orf29 Gene

Domains & Families for C12orf29 Gene

Gene Families for C12orf29 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C12orf29 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C12orf29: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C12orf29 Gene

Function for C12orf29 Gene

Phenotypes From GWAS Catalog for C12orf29 Gene

Phenotypes for C12orf29 Gene

genes like me logo Genes that share phenotypes with C12orf29: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf29

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 C12orf29 Gene

Localization for C12orf29 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 C12orf29 gene
Compartment Confidence
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
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 C12orf29 Gene

Pathways & Interactions for C12orf29 Gene

PathCards logo

SuperPathways for C12orf29 Gene

No Data Available

Interacting Proteins for C12orf29 Gene

Selected Interacting proteins: Q8N999-CL029_HUMAN for C12orf29 Gene via IID

Symbol External ID(s) Details
UFL1

Gene Ontology (GO) - Biological Process for C12orf29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002244 hematopoietic progenitor cell differentiation IEA --
genes like me logo Genes that share ontologies with C12orf29: view

No data available for Pathways by source and SIGNOR curated interactions for C12orf29 Gene

Drugs & Compounds for C12orf29 Gene

No Compound Related Data Available

Transcripts for C12orf29 Gene

mRNA/cDNA for C12orf29 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf29

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf29 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9
SP1: - - -
SP2: - -
SP3: - - - - -
SP4: -
SP5:
SP6: - -

Relevant External Links for C12orf29 Gene

GeneLoc Exon Structure for
C12orf29

Expression for C12orf29 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf29 Gene

Protein differential expression in normal tissues from HIPED for C12orf29 Gene

This gene is overexpressed in Pancreas (17.1), Testis (9.2), Esophagus (6.5), Lung (6.5), and Heart (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C12orf29 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf29

SOURCE GeneReport for Unigene cluster for C12orf29 Gene:

Hs.591009

Evidence on tissue expression from TISSUES for C12orf29 Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Heart(4.1)
genes like me logo Genes that share expression patterns with C12orf29: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf29 Gene

Orthologs for C12orf29 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C12orf29 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C12H12orf29 30
  • 99.38 (n)
C12orf29 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C15H12orf29 30
  • 91.69 (n)
C12orf29 31
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C5H12orf29 30 31
  • 89.54 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C12orf29 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1307947 30
  • 85.74 (n)
Mouse
(Mus musculus)
Mammalia 4930430F08Rik 30 17 31
  • 85.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C12orf29 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C12ORF29 30
  • 76.99 (n)
C12orf29 31
  • 76 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C12orf29 31
  • 69 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii zgc:103499 30
  • 62.14 (n)
C25H12orf29 31
  • 60 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5404 31
  • 44 (a)
OneToOne
Species where no ortholog for C12orf29 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)
  • 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 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 C12orf29 Gene

ENSEMBL:
Gene Tree for C12orf29 (if available)
TreeFam:
Gene Tree for C12orf29 (if available)

Paralogs for C12orf29 Gene

Pseudogenes.org Pseudogenes for C12orf29 Gene

genes like me logo Genes that share paralogs with C12orf29: view

No data available for Paralogs for C12orf29 Gene

Variants for C12orf29 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf29 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
830333 Pathogenic/Likely Pathogenic: Nephronophthisis; Rod-cone dystrophy; Joubert syndrome; Meckel-Gruber syndrome 88,049,279(+) A/AAAGT
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)
FRAMESHIFT_VARIANT,THREE_PRIME_UTR
838668 Uncertain Significance: Nephronophthisis; Joubert syndrome; Meckel-Gruber syndrome 88,049,384(+) C/T
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys)
MISSENSE_VARIANT,THREE_PRIME_UTR
848929 Likely Pathogenic: Nephronophthisis; Joubert syndrome; Meckel-Gruber syndrome 88,049,390(+) C/CT
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
FRAMESHIFT_VARIANT,THREE_PRIME_UTR
856893 Pathogenic: Nephronophthisis; Joubert syndrome; Meckel-Gruber syndrome 88,049,291(+) CCTTCT/C
NM_025114.4(CEP290):c.7323_7327AGAAG[1] (p.Glu2443fs)
FRAMESHIFT_VARIANT,THREE_PRIME_UTR
866388 Uncertain Significance: Retinal dystrophy 88,049,367(+) T/C
NM_025114.4(CEP290):c.7257A>G (p.Ser2419=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C12orf29 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C12orf29 Gene

Variant ID Type Subtype PubMed ID
esv3892241 CNV gain 25118596
nsv483111 CNV loss 15286789

Variation tolerance for C12orf29 Gene

Residual Variation Intolerance Score: 25.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf29 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf29

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf29 Gene

Disorders for C12orf29 Gene

MalaCards: The human disease database

(12) MalaCards diseases for C12orf29 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
juvenile nephronophthisis
  • nephronophthisis
meckel syndrome, type 1
  • mks1
nephronophthisis
  • medullary cystic disease
spinocerebellar ataxia 29
  • sca29
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C12orf29

genes like me logo Genes that share disorders with C12orf29: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C12orf29 Gene

Publications for C12orf29 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
  2. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. (PMID: 33001583) Mao CG … Deng B (Thoracic cancer 2020) 3
  3. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3

Products for C12orf29 Gene

  • Biorbyt antibodies for C12orf29

Sources for C12orf29 Gene