- Cd300c [Search on AGR]
Homo sapiens The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008]
- Krt17 [Search on AGR]
Homo sapiens This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]
- LCE1A [Search on AGR]
Homo sapiens LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009]
- Fgfr1 [Search on AGR]
Rattus norvegicus Enables cell adhesion molecule binding activity and signaling receptor binding activity. Involved in several processes, including cellular response to histamine; neuron development; and positive regulation of cell population proliferation. Located in perinuclear region of cytoplasm. Used to study pulmonary hypertension. Biomarker of several diseases, including ischemia (multiple); mesangial proliferative glomerulonephritis; sciatic neuropathy; vascular dementia; and visual epilepsy. Human ortholog(s) of this gene implicated in several diseases, including Jackson-Weiss syndrome; bone disease (multiple); carcinoma (multiple); hematologic cancer (multiple); and hypogonadotropic hypogonadism (multiple). Orthologous to human FGFR1 (fibroblast growth factor receptor 1); PARTICIPATES IN cerium oxide nanoparticle response pathway; fibroblast growth factor signaling pathway; glypican signaling pathway; INTERACTS WITH 2-amino-2-deoxy-D-glucopyranose; 3,3',5-triiodo-L-thyronine; 6-propyl-2-thiouracil.
- Fgfr2 [Search on AGR]
Rattus norvegicus Enables fibroblast growth factor binding activity and fibroblast growth factor receptor activity. Involved in several processes, including cellular response to retinoic acid; cellular response to transforming growth factor beta stimulus; and positive regulation of vascular associated smooth muscle cell proliferation. Located in cell surface. Used to study prostate cancer and retinitis pigmentosa. Biomarker of essential hypertension; hypospadias; portal hypertension; and transient cerebral ischemia. Human ortholog(s) of this gene implicated in several diseases, including Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; breast cancer (multiple); gastrointestinal system cancer (multiple); and synostosis (multiple). Orthologous to human FGFR2 (fibroblast growth factor receptor 2); PARTICIPATES IN fibroblast growth factor signaling pathway; endocytosis pathway; mitogen activated protein kinase signaling pathway; INTERACTS WITH 1-(5-isoquinolinesulfonyl)-2-methylpiperazine; 1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine; 17alpha-ethynylestradiol.
- Fgfr2 [Search on AGR]
Homo sapiens The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
- Fgfr1 [Search on AGR]
Homo sapiens The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]