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Aliases for C8orf37 Gene

Aliases for C8orf37 Gene

  • Chromosome 8 Open Reading Frame 37 2 3 5
  • Smalltalk 3 4
  • Protein C8orf37 3
  • CORD16 3
  • BBS21 3
  • RP64 3

External Ids for C8orf37 Gene

Previous GeneCards Identifiers for C8orf37 Gene

  • GC08M096327
  • GC08M091465
  • GC08M096257

Summaries for C8orf37 Gene

Entrez Gene Summary for C8orf37 Gene

  • This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]

GeneCards Summary for C8orf37 Gene

C8orf37 (Chromosome 8 Open Reading Frame 37) is a Protein Coding gene. Diseases associated with C8orf37 include Bardet-Biedl Syndrome 21 and Cone-Rod Dystrophy 16.

Additional gene information for C8orf37 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C8orf37 Gene

Genomics for C8orf37 Gene

GeneHancer (GH) Regulatory Elements for C8orf37 Gene

Promoters and enhancers for C8orf37 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
GH08I095267 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 563.7 +0.8 790 3.4 CLOCK DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC C8orf37 TRS-AGA2-5 VIRMA INTS8 ENSG00000272509 ENSG00000253704 ENSG00000253878 MTERF3 LINC01298 C8orf37-AS1
GH08I094718 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 39.5 +550.3 550256 2.9 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 DPY19L4 VIRMA RBM12B INTS8 C8orf37 NDUFAF6 RPL34P18 TMEM67 ENSG00000272509 ESRP1
GH08I096260 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 -992.4 -992447 5.3 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A MTERF3 PTDSS1 C8orf37 GC08P096270 LOC105375652
GH08I094946 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 4.5 +321.0 321033 4.7 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 TP53INP1 ENSG00000253878 NDUFAF6 C8orf37 CCNE2
GH08I096103 Enhancer 0.8 ENCODE 11.3 -834.1 -834088 2.3 NFIB INSM2 FEZF1 ZNF213 ZNF366 ZNF391 OVOL3 ZNF662 ZEB2 TSHZ1 MTERF3 GDF6 C8orf37 TUBBP7 GAPDHP30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C8orf37 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C8orf37 gene promoter:

Genomic Locations for C8orf37 Gene

Genomic Locations for C8orf37 Gene
chr8:95,244,913-95,270,337
(GRCh38/hg38)
Size:
25,425 bases
Orientation:
Minus strand
chr8:96,257,141-96,281,462
(GRCh37/hg19)

Genomic View for C8orf37 Gene

Genes around C8orf37 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C8orf37 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C8orf37 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C8orf37 Gene

Proteins for C8orf37 Gene

  • Protein details for C8orf37 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NL8-CH037_HUMAN
    Recommended name:
    Protein C8orf37
    Protein Accession:
    Q96NL8
    Secondary Accessions:
    • F4Y588

    Protein attributes for C8orf37 Gene

    Size:
    207 amino acids
    Molecular mass:
    23381 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C8orf37 Gene

Post-translational modifications for C8orf37 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C8orf37 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C8orf37 Gene

Domains & Families for C8orf37 Gene

Gene Families for C8orf37 Gene

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

Protein Domains for C8orf37 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C8orf37 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C8orf37: view

No data available for UniProtKB/Swiss-Prot for C8orf37 Gene

Function for C8orf37 Gene

Phenotypes From GWAS Catalog for C8orf37 Gene

Gene Ontology (GO) - Molecular Function for C8orf37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27173435
genes like me logo Genes that share ontologies with C8orf37: view
genes like me logo Genes that share phenotypes with C8orf37: view

Human Phenotype Ontology for C8orf37 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for C8orf37 Gene

miRTarBase miRNAs that target C8orf37

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for C8orf37 Gene

Localization for C8orf37 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C8orf37 Gene

Cytoplasm. Note=In the retina, located at the base of the primary cilium.

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 C8orf37 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C8orf37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 22177090
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0030054 cell junction IDA --
GO:0097546 ciliary base IDA 22177090
genes like me logo Genes that share ontologies with C8orf37: view

Pathways & Interactions for C8orf37 Gene

SuperPathways for C8orf37 Gene

No Data Available

Interacting Proteins for C8orf37 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000286688%0d%0a9606.ENSP00000246533%0d%0a
Selected Interacting proteins: Q96NL8-CH037_HUMAN ENSP00000286688 for C8orf37 Gene via IID UniProtKB STRING

Gene Ontology (GO) - Biological Process for C8orf37 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C8orf37 Gene

Drugs & Compounds for C8orf37 Gene

No Compound Related Data Available

Transcripts for C8orf37 Gene

mRNA/cDNA for C8orf37 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C8orf37 Gene

Chromosome 8 open reading frame 37:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C8orf37 Gene

No ASD Table

Relevant External Links for C8orf37 Gene

GeneLoc Exon Structure for
C8orf37
ECgene alternative splicing isoforms for
C8orf37

Expression for C8orf37 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C8orf37 Gene

Protein differential expression in normal tissues from HIPED for C8orf37 Gene

This gene is overexpressed in Blymphocyte (23.5), Spinal cord (11.3), Fetal Brain (10.2), Retina (9.8), and Testis (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C8orf37 Gene



Protein tissue co-expression partners for C8orf37 Gene

NURSA nuclear receptor signaling pathways regulating expression of C8orf37 Gene:

C8orf37

SOURCE GeneReport for Unigene cluster for C8orf37 Gene:

Hs.548157

mRNA Expression by UniProt/SwissProt for C8orf37 Gene:

Q96NL8-CH037_HUMAN
Tissue specificity: Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).

Evidence on tissue expression from TISSUES for C8orf37 Gene

  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C8orf37 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • lacrimal apparatus
  • middle ear
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with C8orf37: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for C8orf37 Gene

Orthologs for C8orf37 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C8orf37 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C8orf37 34
  • 100 (a)
OneToOne
C8H8orf37 33
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia C14H8orf37 33
  • 87.92 (n)
C8orf37 34
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2610301B20Rik 33 16 34
  • 85.35 (n)
rat
(Rattus norvegicus)
Mammalia MGC94199 33
  • 85.35 (n)
dog
(Canis familiaris)
Mammalia C29H8orf37 33
  • 82.82 (n)
C8orf37 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 72 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia C8orf37 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H8ORF37 33
  • 67.2 (n)
C8orf37 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C8orf37 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489713 33
  • 57.48 (n)
Str.6865 33
zebrafish
(Danio rerio)
Actinopterygii LOC100534958 33
  • 52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
Species where no ortholog for C8orf37 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 C8orf37 Gene

ENSEMBL:
Gene Tree for C8orf37 (if available)
TreeFam:
Gene Tree for C8orf37 (if available)

Paralogs for C8orf37 Gene

No data available for Paralogs for C8orf37 Gene

Variants for C8orf37 Gene

Sequence variations from dbSNP and Humsavar for C8orf37 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs10109660 likely-benign, Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive 95,246,159(-) T/G 3_prime_UTR_variant
rs1060505042 pathogenic, Retinitis pigmentosa 64 95,260,534(-) T/G splice_acceptor_variant
rs1064792852 pathogenic, Retinitis pigmentosa 64 95,247,744(-) A/C/T coding_sequence_variant, stop_gained
rs1064792853 pathogenic, Cone-rod dystrophy 16 95,263,776(-) T/C splice_acceptor_variant
rs1085307121 pathogenic, Cone-rod dystrophy 16 95,269,033(-) A/G splice_donor_variant

Structural Variations from Database of Genomic Variants (DGV) for C8orf37 Gene

Variant ID Type Subtype PubMed ID
nsv1023866 CNV gain 25217958
nsv480322 CNV novel sequence insertion 20440878
nsv525440 CNV loss 19592680
nsv6315 CNV deletion 18451855
nsv819165 CNV loss 19587683

Variation tolerance for C8orf37 Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C8orf37 Gene

Human Gene Mutation Database (HGMD)
C8orf37
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C8orf37

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C8orf37 Gene

Disorders for C8orf37 Gene

MalaCards: The human disease database

(7) MalaCards diseases for C8orf37 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CH037_HUMAN
  • Bardet-Biedl syndrome 21 (BBS21) [MIM:617406]: A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:26854863, ECO:0000269 PubMed:27008867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone-rod dystrophy 16 (CORD16) [MIM:614500]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:22177090}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 64 (RP64) [MIM:614500]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:22177090}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for C8orf37

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with C8orf37: view

No data available for Genatlas for C8orf37 Gene

Publications for C8orf37 Gene

  1. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. (PMID: 26854863) Khan AO … Bergmann C (Ophthalmic genetics 2016) 2 3 4 58
  2. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. (PMID: 22177090) Estrada-Cuzcano A … Cremers FP (American journal of human genetics 2012) 2 3 4 58
  3. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). (PMID: 27008867) Heon E … Sheffield VC (Human molecular genetics 2016) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia. (PMID: 25113443) Katagiri S … Iwata T (Ophthalmic genetics 2016) 3 58

Products for C8orf37 Gene

Sources for C8orf37 Gene

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