Human Gene MFRP (ENST00000619721.6) from GENCODE V44
Description: Homo sapiens membrane frizzled-related protein (MFRP), mRNA. (from RefSeq NM_031433) RefSeq Summary (NM_015645): This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]. Gencode Transcript: ENST00000619721.6 Gencode Gene: ENSG00000235718.9 Transcript (Including UTRs) Position: hg38 chr11:119,338,942-119,346,705 Size: 7,764 Total Exon Count: 15 Strand: - Coding Region Position: hg38 chr11:119,341,548-119,346,513 Size: 4,966 Coding Exon Count: 13
ID:MFRP_HUMAN DESCRIPTION: RecName: Full=Membrane frizzled-related protein; AltName: Full=Membrane-type frizzled-related protein; FUNCTION: May play a role in eye development. SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein (Potential). TISSUE SPECIFICITY: Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes. DEVELOPMENTAL STAGE: Expressed in fetal brain. DISEASE: Defects in MFRP are the cause of nanophthalmos 2 (NNO2) [MIM:609549]. NNO2 is a rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. DISEASE: Defects in MFRP are the cause of microphthalmia isolated type 5 (MCOP5) [MIM:611040]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. MCOP5 is characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disc drusen. SIMILARITY: Contains 2 CUB domains. SIMILARITY: Contains 1 FZ (frizzled) domain. SIMILARITY: Contains 2 LDL-receptor class A domains.
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.
Pfam Domains: PF00431 - CUB domain PF01392 - Fz domain PF00057 - Low-density lipoprotein receptor domain class A
ModBase Predicted Comparative 3D Structure on Q9BY79
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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.
Biological Process: GO:0007601 visual perception GO:0009792 embryo development ending in birth or egg hatching GO:0042462 eye photoreceptor cell development GO:0060041 retina development in camera-type eye