Transmembrane Protein 2 Like Protein (TMEM2L)

CEMIP; CCSP1; KIAA1199; Cell Migration Inducing Protein, Hyaluronan Binding

SPN	I966
HGNC	29213
MGI	2443629
PubMed	14577002
RGD	1305254
UniProt	Q8WUJ3
Wiki	KIAA1199

The full-length KIAA1199 cDNA sequence, encoding a deduced 1,361-amino acid protein, by use of RT-PCR and direct sequencing. The N-terminal 30 amino acids is a cleavable signal peptide. The mature 1,331-amino acid protein has a calculated molecular mass of 150 kD. KIAA1199 shares 38% amino acid sequence identity with TMEM2, which has a wide tissue distribution that includes human fetal cochlea.

Mouse KIAA1199 mRNA is expressed specifically in Deiters cells in the organ of Corti at postnatal day zero before the onset of hearing, and that expression in those cells disappears by postnatal day 7. KIAA1199 expression was also detected in fibrocytes of the spiral ligament and the spiral limbus through postnatal day 21, when the mouse cochlea matures.

Reference

"Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss."
J. Hum. Genet. 48:564-570(2003) [PubMed] [Europe PMC] [Abstract]

"Upregulation of the KIAA1199 gene is associated with cellular mortality."
Cancer Lett. 239:71-77(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]

"Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis."
Genomics 72:88-98(2001) [PubMed] [Europe PMC] [Abstract]

"Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues."
Am. J. Hum. Genet. 72:73-82(2003) [PubMed] [Europe PMC] [Abstract]

"Clinicopathologic significance of KIAA1199 overexpression in human gastric cancer."
Ann. Surg. Oncol. 16:2042-2051(2009) [PubMed] [Europe PMC] [Abstract]

"Repression of KIAA1199 attenuates Wnt-signalling and decreases the proliferation of colon cancer cells."
Br. J. Cancer 105:552-561(2011) [PubMed] [Europe PMC] [Abstract]

"Transcriptional and epigenetic regulation of KIAA1199 gene expression in human breast cancer."
PLoS ONE 7:E44661-E44661(2012) [PubMed] [Europe PMC] [Abstract]

"Unraveling the role of KIAA1199, a novel endoplasmic reticulum protein, in cancer cell migration."
J. Natl. Cancer Inst. 105:1402-1416(2013) [PubMed] [Europe PMC] [Abstract]

"Early insights into the function of KIAA1199, a markedly overexpressed protein in human colorectal tumors."
PLoS ONE 8:E69473-E69473(2013) [PubMed] [Europe PMC] [Abstract]

"KIAA1199, a deafness gene of unknown function, is a new hyaluronan binding protein involved in hyaluronan depolymerization."
Proc. Natl. Acad. Sci. U.S.A. 110:5612-5617(2013) [PubMed] [Europe PMC] [Abstract]

"N-Terminal signal sequence is required for cellular trafficking and hyaluronan-depolymerization of KIAA1199."
FEBS Lett. 588:111-116(2014) [PubMed] [Europe PMC] [Abstract]