Human Gene C8orf37 (ENST00000286688.6) Description and Page Index
  Description: Homo sapiens chromosome 8 open reading frame 37 (C8orf37), transcript variant 1, mRNA. (from RefSeq NM_177965)
RefSeq Summary (NM_177965): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC150301.1, SRR1803614.155999.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000286688.6/ ENSP00000286688.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000286688.6
Gencode Gene: ENSG00000156172.6
Transcript (Including UTRs)
   Position: hg38 chr8:95,244,913-95,269,201 Size: 24,289 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr8:95,247,617-95,269,189 Size: 21,573 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:95,244,913-95,269,201)mRNA (may differ from genome)Protein (207 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtOMIMPubMedStanford SOURCE

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Protein C8orf37;
SUBCELLULAR LOCATION: Cytoplasm. Note=In the retina, located at the base of the primary cilium.
TISSUE SPECIFICITY: Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).
DISEASE: Defects in C8orf37 are the cause of cone-rod dystrophy type 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.
DISEASE: Defects in C8orf37 are the cause of retinitis pigmentosa type 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.

-  MalaCards Disease Associations
  MalaCards Gene Search: C8orf37
Diseases sorted by gene-association score: cone-rod dystrophy 16* (1329), bardet-biedl syndrome 21* (1229), c8orf37-related retinitis pigmentosa* (500), bardet-biedl syndrome* (89), retinitis pigmentosa* (56), cone-rod dystrophy (19), hematocele of tunica vaginalis testis (17), fundus dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.49 RPKM in Ovary
Total median expression: 55.70 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -843.672704-0.312 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q96NL8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein Sequence     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0008594 photoreceptor cell morphogenesis

Cellular Component:
GO:0001917 photoreceptor inner segment
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0030054 cell junction
GO:0097546 ciliary base

-  Descriptions from all associated GenBank mRNAs
  BC150301 - Homo sapiens cDNA clone IMAGE:8860397, containing frame-shift errors.
BC036855 - Homo sapiens chromosome 8 open reading frame 37, mRNA (cDNA clone IMAGE:5520656).
AK055162 - Homo sapiens cDNA FLJ30600 fis, clone BRAWH2009360.
GQ240139 - Homo sapiens smalltalk mRNA, complete cds.
JD461358 - Sequence 442382 from Patent EP1572962.
JD406725 - Sequence 387749 from Patent EP1572962.
JD523392 - Sequence 504416 from Patent EP1572962.
JD227715 - Sequence 208739 from Patent EP1572962.
JD487849 - Sequence 468873 from Patent EP1572962.
JD078724 - Sequence 59748 from Patent EP1572962.
JD045897 - Sequence 26921 from Patent EP1572962.
JD362300 - Sequence 343324 from Patent EP1572962.
JD177574 - Sequence 158598 from Patent EP1572962.
JD447347 - Sequence 428371 from Patent EP1572962.
JD141772 - Sequence 122796 from Patent EP1572962.
JD256968 - Sequence 237992 from Patent EP1572962.
JD145084 - Sequence 126108 from Patent EP1572962.
JD447839 - Sequence 428863 from Patent EP1572962.
JD380333 - Sequence 361357 from Patent EP1572962.
JD194630 - Sequence 175654 from Patent EP1572962.
JD537267 - Sequence 518291 from Patent EP1572962.
JD377605 - Sequence 358629 from Patent EP1572962.
JD421562 - Sequence 402586 from Patent EP1572962.
JD186533 - Sequence 167557 from Patent EP1572962.
JD452937 - Sequence 433961 from Patent EP1572962.
JD074910 - Sequence 55934 from Patent EP1572962.
JD112028 - Sequence 93052 from Patent EP1572962.
JD395591 - Sequence 376615 from Patent EP1572962.
JD112027 - Sequence 93051 from Patent EP1572962.
JD188018 - Sequence 169042 from Patent EP1572962.
JD410406 - Sequence 391430 from Patent EP1572962.
JD176603 - Sequence 157627 from Patent EP1572962.
JD133831 - Sequence 114855 from Patent EP1572962.
JD506681 - Sequence 487705 from Patent EP1572962.
JD109846 - Sequence 90870 from Patent EP1572962.
JD499473 - Sequence 480497 from Patent EP1572962.
JD373940 - Sequence 354964 from Patent EP1572962.
JD565393 - Sequence 546417 from Patent EP1572962.
JD254938 - Sequence 235962 from Patent EP1572962.
JD504346 - Sequence 485370 from Patent EP1572962.
BC172331 - Synthetic construct Homo sapiens clone IMAGE:100069025, MGC:199036 chromosome 8 open reading frame 37 (C8orf37) mRNA, encodes complete protein.
KJ905017 - Synthetic construct Homo sapiens clone ccsbBroadEn_14411 C8orf37-like gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: CH037_HUMAN, NM_177965, Q96NL8, uc003yho.1, uc003yho.2, uc003yho.3, uc003yho.4
UCSC ID: uc003yho.4
RefSeq Accession: NM_177965
Protein: Q96NL8 (aka CH037_HUMAN)
CCDS: CCDS6268.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene C8orf37:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.