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Aliases for C12orf29 Gene
Aliases for C12orf29 Gene
External Ids for C12orf29 Gene
- HGNC: 25322
- Entrez Gene: 91298
- Ensembl: ENSG00000133641
- UniProtKB: Q8N999
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 Senior-Loken Syndrome 6 and Meckel Syndrome, Type 4.
Additional gene information for C12orf29 Gene
- HGNC(25322)
- Entrez Gene(91298)
- Ensembl(ENSG00000133641)
- UniProtKB(Q8N999)
- Open Targets Platform(ENSG00000133641)
- Search for C12orf29 at DataMed
- Search for C12orf29 at HumanCyc
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
Genomic Locations for C12orf29 Gene
- chr12:88,033,846-88,050,160
- (GRCh38/hg38)
- Size:
- 16,315 bases
- Orientation:
- Plus strand
- chr12:88,427,623-88,443,937
- (GRCh37/hg19)
- 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:
-
- 12q21.32 by HGNC
- 12q21.32 by Entrez Gene
- 12q21.32 by Ensembl
C12orf29 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for C12orf29 Gene
Post-translational modifications for C12orf29 Gene
Other Protein References for C12orf29 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for C12orf29
- Novus Biologicals Antibodies for C12orf29
-
Abcam antibodies for C12orf29
- Invitrogen Antibodies for C12orf29 (AFLGC-C12orf29)
- antibodies-online: Show 12 available C12ORF29 Antibodies ranked by validation data
-
Biorbyt antibodies for C12orf29
-
Santa Cruz Biotechnology (SCBT) Antibodies for C12orf29
- Sino Biological Antibodies for C12orf29
Protein Products
-
OriGene Purified Proteins for C12orf29
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- Origene Custom Protein Services for C12orf29
-
Abcam proteins for C12orf29
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
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
- GenomeRNAi human phenotypes for C12orf29:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for C12orf29 - Select products 50% OFF >
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-
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-
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miRNA for C12orf29 Gene
- miRTarBase miRNAs that target C12orf29
miRNA Products
Inhibitory RNA Products
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Clone Products
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-
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Cell Line Products
-
Horizon Cell Lines 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
| Compartment | Confidence |
|---|---|
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
- Vesicles (2)
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C12orf29 Gene
Pathways & Interactions for C12orf29 Gene
Interacting Proteins for C12orf29 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002244 | hematopoietic progenitor cell differentiation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for C12orf29 Gene
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 :
-
- ENST00000548757 765 nts (view in UCSC)
- ENST00000549345 508 nts (view in UCSC)
- ENST00000356891 2829 nts (view in UCSC)
- ENST00000550333 2740 nts (view in UCSC)
- ENST00000552121 1578 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for C12orf29 - Select products 50% OFF >
- * C12orf29 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for C12orf29
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for C12orf29
-
Santa Cruz Biotechnology (SCBT) CRISPR for C12orf29
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for C12orf29
- Browse OriGene Inhibitory RNA Products For C12orf29
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf29
Clone Products
- Applied Biological Materials (abm): Clones for C12orf29 - Select products 50% OFF >
- * C12orf29 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene ORF clones in human for C12orf29
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- Sino Biological Human cDNA Clone for C12orf29
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| 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
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.591009Evidence on tissue expression from TISSUES for C12orf29 Gene
- Nervous system(4.4)
- Liver(4.2)
- Heart(4.1)
Primer Products
-
OriGene qPCR primer pairs for C12orf29
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | C12H12orf29 30 |
|
||
| C12orf29 31 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | C15H12orf29 30 |
|
||
| C12orf29 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | C5H12orf29 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | C12orf29 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | RGD1307947 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | 4930430F08Rik 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | C12orf29 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | C12ORF29 30 |
|
||
| C12orf29 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | C12orf29 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | zgc:103499 30 |
|
||
| C25H12orf29 31 |
|
OneToOne | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5404 31 |
|
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)
Paralogs for C12orf29 Gene
Pseudogenes.org Pseudogenes for C12orf29 Gene
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 |
|---|---|---|---|---|---|
| 663263 | Pathogenic: Nephronophthisis; Joubert syndrome; Meckel-Gruber syndrome | 88,049,291(+) | C/CCTTCT | FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 745463 | Likely Benign: Nephronophthisis; Joubert syndrome; Meckel-Gruber syndrome | 88,049,331(+) | G/A | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 793801 | Likely Benign: not provided | 88,049,412(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 797282 | Likely Benign: not provided | 88,049,295(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 830333 | Likely Pathogenic: Rod-cone dystrophy | 88,049,279(+) | A/AAAGT | FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3892241 | CNV | gain | 25118596 |
| nsv483111 | CNV | loss | 15286789 |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf29 Gene
Disorders for C12orf29 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| senior-loken syndrome 6 |
|
|
| meckel syndrome, type 4 |
|
|
| joubert syndrome 5 |
|
|
| bardet-biedl syndrome 14 |
|
|
| leber congenital amaurosis 10 |
|
|
Search C12orf29 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for C12orf29
No data available for UniProtKB/Swiss-Prot and Genatlas for C12orf29 Gene
Publications for C12orf29 Gene
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
- E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3
- Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. (PMID: 25187353) Goldstein JI … Sullivan PF (Nature communications 2014) 3
- Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4
- The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4
ExternalLinks
Products for C12orf29 Gene
- Custom Antibody ServicesOriGene Antibodies for C12orf29
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- Custom Assay Services
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- Browse Antibodies
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- Browse Primary Antibodies
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- antibodies-online: Show 12 available C12ORF29 Antibodies ranked by validation data
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Sources for C12orf29 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
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- (19) KEGG
- (20) MINT
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB