UniProt functional annotation for Q9HCK4



	UniProt functional annotation for Q9HCK4

UniProt code: Q9HCK4.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development.

Subunit: Interacts with SLIT2. {ECO:0000269|PubMed:10102268, ECO:0000269|PubMed:11404413}.

Subcellular location: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease: Vesicoureteral reflux 2 (VUR2) [MIM:610878]: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease. {ECO:0000269|PubMed:17357069}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Note=A chromosomal aberration involving ROBO2 is a cause of multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with PCDH11Y. This translocation disrupts ROBO2 and produces dominant- negative ROBO2 proteins that abrogate SLIT-ROBO signaling in vitro.

Similarity: Belongs to the immunoglobulin superfamily. ROBO family. {ECO:0000305}.

Sequence caution: Sequence=AAC39576.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB13394.1; Type=Erroneous initiation; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development.


Subunit:		Interacts with SLIT2. {ECO:0000269\|PubMed:10102268, ECO:0000269\|PubMed:11404413}.
Subcellular location:		Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
Disease:		Vesicoureteral reflux 2 (VUR2) [MIM:610878]: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease. {ECO:0000269\|PubMed:17357069}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Note=A chromosomal aberration involving ROBO2 is a cause of multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with PCDH11Y. This translocation disrupts ROBO2 and produces dominant- negative ROBO2 proteins that abrogate SLIT-ROBO signaling in vitro.
Similarity:		Belongs to the immunoglobulin superfamily. ROBO family. {ECO:0000305}.
Sequence caution:		Sequence=AAC39576.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB13394.1; Type=Erroneous initiation; Evidence={ECO:0000305};