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MFRP membrane frizzled-related protein [ Homo sapiens (human) ]

Gene ID: 83552, updated on 5-Aug-2022

Summary

Official Symbol
MFRPprovided by HGNC
Official Full Name
membrane frizzled-related proteinprovided by HGNC
Primary source
HGNC:HGNC:18121
See related
Ensembl:ENSG00000235718 MIM:606227; AllianceGenome:HGNC:18121
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RD6; NNO2; CTRP5; MCOP5
Summary
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
Expression
Broad expression in gall bladder (RPKM 9.2), fat (RPKM 6.7) and 20 other tissues See more
Orthologs
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Genomic context

See MFRP in Genome Data Viewer
Location:
11q23.3
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119338942..119346705, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119359579..119367342, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119209652..119217415, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA ACA64 Neighboring gene C1q and TNF related 5 Neighboring gene ring finger protein 26 Neighboring gene HNF4 motif-containing MPRA enhancer 223 Neighboring gene ubiquitin specific peptidase 2 Neighboring gene USP2 antisense RNA 1 Neighboring gene major facilitator superfamily domain containing 14B pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30570, MGC32938, DKFZp586B0621

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in embryo development ending in birth or egg hatching NAS
Non-traceable Author Statement
more info
PubMed 
involved_in eye photoreceptor cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
membrane frizzled-related protein
Names
C1q and TNF related 5
membrane-type frizzled-related protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012235.1 RefSeqGene

    Range
    4969..12732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_031433.4NP_113621.1  membrane frizzled-related protein

    See identical proteins and their annotated locations for NP_113621.1

    Status: REVIEWED

    Source sequence(s)
    AP003396
    Consensus CDS
    CCDS8421.1
    UniProtKB/Swiss-Prot
    Q96DQ9, Q9BY79
    Related
    ENSP00000481824.1, ENST00000619721.6
    Conserved Domains (3) summary
    cd00041
    Location:301411
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:260294
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam01392
    Location:466569
    Fz; Fz domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    119338942..119346705 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    119359579..119367342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)