C8orf37 Gene
protein-coding GIFtS: 44
GCID: GC08M096257
|
|
chromosome 8 open reading frame 37
| |
Aliases
for C8orf37 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 8 Open Reading Frame 371 2 | | FLJ306001 | | CORD162 | | RP642 | | Protein C8orf372 | | Smalltalk1 |
Export aliases for C8orf37 gene to outside databasesPrevious GC identifers: GC08M096327 GC08M091465 |
Summaries
for C8orf37 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for C8orf37:
This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in thebrain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary ciliumin human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessivecone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). (provided by RefSeq, Mar 2012)
|
Genomic Views
for C8orf37 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000008.10 NC_018919.1 NT_008046.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C8orf37 gene promoter:
C/EBPbeta GCNF CUTL1 HNF-3beta E2F-1 E2F FOXC1 GCNF-1 Zic1 GCNF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for C8orf37
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8orf37 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 8q22.1 Ensembl cytogenetic band: 8q22.1 HGNC cytogenetic band: 8q22.1C8orf37 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M096257: view genomic region
(about GC identifiers)
Start:
|
96,257,147 bp from pter |
End:
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96,281,437 bp from pter |
Size:
|
24,291 bases |
Orientation:
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minus strand |
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Proteins
for C8orf37 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CH037_HUMAN, Q96NL8 (See
protein sequence)Recommended Name: Protein C8orf37 Size: 207 amino acids; 23381 Da
Subcellular location: Cytoplasm. Note=In the retina, located at the base of the primary ciliumExplore the universe of human proteins at neXtProt for C8orf37: NX_Q96NL8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96NL8
C8orf37 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_808880.1
ENSEMBL proteins: ENSP00000286688
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
IEA | -- |
C8orf37 for ontologies About GeneDecksing
C8orf37 Antibody Products:
Assay Products for C8orf37: |
Protein
Domains /
Families
for C8orf37 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q96NL8 |
Function
for C8orf37 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C8orf37 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C8orf37
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8orf37 |
1 GenomeRNAi human phenotype for C8orf37:
|
Pathways & Interactions
for C8orf37 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C8orf37
|
Drugs & Compounds
for C8orf37 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for C8orf37
Search CenterWatch for drugs/clinical trials and news about C8orf37 / CH037
|
Transcripts
for C8orf37 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for C8orf37 gene: NM_177965.3 Unigene Cluster for C8orf37: Chromosome 8 open reading frame 37 Hs.548157 [show with all ESTs]Unigene Representative Sequence: NM_1779651 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000286688(uc003yho.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C8orf37 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C8orf37
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Synthesis Service for C8orf37 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C8orf37 |
Additional cDNA sequence: AK055162.1 BC036855.2 BC150301.1 GQ240139.1 4 DOTS entries: DT.40127304 DT.100748146 DT.97809873 DT.102821088 23 AceView cDNA sequences: BC036855 AA972183 BX089757 AA018056 AI911357 BE220870 AK055162 N92755 BM543014 AA782091 AI885321 BU679782 BX100102 AA399492 BI088674 NM_177965 AL134492 BE670614 AI142618 AI473651 AA897574 AA018237 R93855
GeneLoc Exon Structure
|
Expression
for C8orf37 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| C8orf37 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTATTGGCA
About this image
See C8orf37 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C8orf37
SOURCE GeneReport for Unigene cluster: Hs.548157
UniProtKB/Swiss-Prot: CH037_HUMAN, Q96NL8Tissue specificity: Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at proteinlevel)
SABiosciences Custom PCR Arrays for C8orf37
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C8orf37
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8orf37 |
Orthologs
for C8orf37 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for C8orf37 gene from 4/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
2610301B20Rik1 , 5 |
RIKEN cDNA 2610301B20 gene1, 5 |
85.19(n)1
78.74(a)1 |
|
4 (4.85 cM)5
671571 NM_026005.31 NP_080281.31
108745255 |
chicken
(Gallus gallus) |
Aves |
C2H8orf371 |
chromosome 2 open reading frame, human C8orf37 |
70.09(n)
61.54(a) |
|
420235 XM_418346.3 XP_418346.3 |
lizard
(Anolis carolinensis) |
Reptilia |
C8orf376 |
-- |
55(a) |
1 ↔ 1 |
4(19508472-19516722) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.68652 |
Transcribed sequences |
74.91(n) |
|
BX715445.1 |
ENSEMBL Gene Tree for C8orf37 (if available)
TreeFam Gene Tree for C8orf37 (if available) |
Paralogs
for C8orf37 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C8orf37 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 8 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C8orf37 (96257147 - 96281437 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C8orf37
1 CNV: 59499
Human Gene Mutation Database (HGMD): C8orf37
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C8orf37 |
|
Disorders
/ Diseases
for C8orf37 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
C8orf37 for disorders About GeneDecksing
OMIM gene information: 614477
OMIM disorders: --
UniProtKB/Swiss-Prot: CH037_HUMAN, Q96NL8
Defects in C8orf37 are the cause of cone-rod dystrophy type 16 (CORD16) [MIM:614500]. An inherited retinaldystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macularregion, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuityand sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occursearlier than in retinitis pigmentosa Defects in C8orf37 are the cause of retinitis pigmentosa type 64 (RP64) [MIM:614500]. A retinal dystrophybelonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment depositsvisible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of conephotoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As theircondition progresses, they lose their far peripheral visual field and eventually central vision as well
5  diseases for C8orf37: About MalaCardscone-rod dystrophy retinitis retinitis pigmentosa fundus dystrophy
polydactyly
1 disease from the University of Copenhagen DISEASES database for C8orf37:cone-rod dystrophy Human Genome Epidemiology (HuGE) Navigator: C8orf37 (1 document)
Export disorders for C8orf37 gene to outside databases
|
Publications
for C8orf37 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for C8orf37 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C8orf37) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular inv olvement. (PubMed id 22177090)1, 2, 3 Estrada-Cuzcano A....Cremers F.P. (2012)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Retinitis Pigmentosa Overvi ew (PubMed id 20301590)1 Pagon R.A. and Daiger S.P. (1993)
|
External Searches for C8orf37 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C8orf37 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C8orf37 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C8orf37 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for C8orf37 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C8orf37 gene:
Search GeneIP for patents involving C8orf37
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C8orf37 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |  |  |  |  | | | | |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8orf37 |
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