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CRB2 crumbs 2, cell polarity complex component [ Homo sapiens (human) ]

Gene ID: 286204, updated on 18-Mar-2017
Official Symbol
CRB2provided by HGNC
Official Full Name
crumbs 2, cell polarity complex componentprovided by HGNC
Primary source
HGNC:HGNC:18688
See related
Ensembl:ENSG00000148204 MIM:609720; Vega:OTTHUMG00000020638
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
FSGS9; VMCKD
Summary
This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]
Orthologs
Location:
9q33.3
Exon count:
17
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (123354065..123380335)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (126118448..126141034)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376265 Neighboring gene uncharacterized LOC107987036 Neighboring gene DENN domain containing 1A Neighboring gene microRNA 601 Neighboring gene microRNA 7150

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ16786, FLJ38464

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to aspartic-type endopeptidase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
cardiovascular system development ISS
Inferred from Sequence or Structural Similarity
more info
 
ingression involved in gastrulation with mouth forming second ISS
Inferred from Sequence or Structural Similarity
more info
 
maintenance of epithelial cell apical/basal polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
mesoderm formation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
notochord formation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of gastrulation ISS
Inferred from Sequence or Structural Similarity
more info
 
somitogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane raft IC
Inferred by Curator
more info
PubMed 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
protein crumbs homolog 2
Names
crumbs family member 2
crumbs-like protein 2

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_051311.1 RefSeqGene

    Range
    7103..29691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_173689.6NP_775960.4  protein crumbs homolog 2 precursor

    See identical proteins and their annotated locations for NP_775960.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
    Source sequence(s)
    AK124819, AL365504, AL445489, AY720432, DA240339
    Consensus CDS
    CCDS6852.2
    UniProtKB/Swiss-Prot
    Q5IJ48
    Related
    ENSP00000362734, OTTHUMP00000022087, ENST00000373631, OTTHUMT00000053990
    Conserved Domains (5) summary
    cd00054
    Location:321356
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:653773
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:10601090
    EGF; EGF-like domain
    pfam02210
    Location:465588
    Laminin_G_2; Laminin G domain
    cl22861
    Location:9001024
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

RNA

  1. NR_104603.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons in the 5' region but includes an alternate 5' terminal exon, and it also includes an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK126775, AL445489, AY720432, CX871675

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

    Range
    123354065..123380335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518558.2XP_011516860.1  protein crumbs homolog 2 isoform X2

    See identical proteins and their annotated locations for XP_011516860.1

    Conserved Domains (5) summary
    cd00054
    Location:256291
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:588708
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:9951025
    EGF; EGF-like domain
    pfam02210
    Location:400523
    Laminin_G_2; Laminin G domain
    cl22861
    Location:835959
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  2. XM_011518557.2XP_011516859.1  protein crumbs homolog 2 isoform X2

    See identical proteins and their annotated locations for XP_011516859.1

    Conserved Domains (5) summary
    cd00054
    Location:256291
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:588708
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:9951025
    EGF; EGF-like domain
    pfam02210
    Location:400523
    Laminin_G_2; Laminin G domain
    cl22861
    Location:835959
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  3. XM_011518556.2XP_011516858.1  protein crumbs homolog 2 isoform X1

    Conserved Domains (5) summary
    cd00054
    Location:321356
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:653773
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:10511081
    EGF; EGF-like domain
    pfam02210
    Location:465588
    Laminin_G_2; Laminin G domain
    cl22861
    Location:8911015
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
  4. XM_005251934.2XP_005251991.1  protein crumbs homolog 2 isoform X3

    UniProtKB/Swiss-Prot
    Q5IJ48
    Related
    ENSP00000435279, OTTHUMP00000022088, ENST00000460253, OTTHUMT00000053991
    Conserved Domains (5) summary
    cd00054
    Location:2661
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:321441
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:479509
    EGF; EGF-like domain
    pfam02210
    Location:133256
    Laminin_G_2; Laminin G domain
    cl22861
    Location:568692
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    126267135..126291277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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