Property Summary

NCBI Gene PubMed Count 22
PubMed Score 18.87
PubTator Score 19.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Rheumatoid Arthritis 1.300 2.1e-02
osteosarcoma -1.340 9.2e-03
glioblastoma 1.200 3.5e-02
atypical teratoid/rhabdoid tumor -1.200 2.2e-04
medulloblastoma, large-cell -1.600 2.6e-05
acute quadriplegic myopathy 1.351 4.4e-06
lung cancer -1.800 6.9e-05
interstitial cystitis 1.100 6.2e-05
subependymal giant cell astrocytoma 1.716 4.2e-02
ovarian cancer -2.900 1.8e-10
dermatomyositis 1.100 8.8e-03

Gene RIF (13)

PMID Text
26598607 KIF5B is essential for Ostm1 intracellular dispersion.
24719316 Ostm1 has a primary and autonomous role in neuronal homeostasis
23983121 Common gating underlies the slow voltage activation of ClC-7.
23685543 we describe for the first time homozygous microdeletions of different sizes affecting the OSTM1 gene in two unrelated consanguineous families with children suffering from neuronopathic infantile malignant osteopetrosi
21527911 The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes.
19507210 Mutations in TCIRG1, OSTM1, ClCN7, and TNFRSF11A genes were detected in nine, three, one, and one patientswith infantile malignant osteopetrosis, respectively.
19453261 Observational study of gene-disease association. (HuGE Navigator)
18978678 Observational study of gene-disease association. (HuGE Navigator)
18296023 mutations in OSTM1 such as the C-terminal deletion mutant studied herein provoke dysregulation of the canonical Wnt/beta-catenin signaling pathway, providing a molecular basis for severe autosomal recessive osteopetrosis
17985267 This study reports on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a malignant infantile osteopetrosis.
17922613 A novel mutation affecting the OSTM1 locus responsible for ARO. In addition to common clinical features of osteopetrosis, the patient developed a unique neuronal pathology that provided evidence for the role of OSTM1 in normal neuronal cell development.
12826607 The human GIPN gene has 6 exons and 5 introns, and encodes a 334-aa protein.
12627228 mutation in the human GL gene leads to severe recessive osteopetrosis

AA Sequence

MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSLSLLQGGGLGP      1 - 70
LSLPPDLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQQVVSKMDNISRAAGNTSESQ     71 - 140
SCARSLLMADRMQIVVILSEFFNTTWQEANCANCLTNNSEELSNSTVYFLNLFNHTLTCFEHNLQGNAHS    141 - 210
LLQTKNYSEVCKNCREAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCS    211 - 280
DTVPVIAVSVFILFLPVVFYLSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN                    281 - 334
//

Text Mined References (32)

PMID Year Title
26598607 2015 Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.
24719316 2014 Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23983121 2013 Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.
23685543 2013 Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21527911 2011 ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19507210 2009 A single-center experience in 20 patients with infantile malignant osteopetrosis.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18978678 2008 Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18296023 2008 OSTM1 regulates beta-catenin/Lef1 interaction and is required for Wnt/beta-catenin signaling.
17985267 2007 Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations.
17922613 2008 Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16813530 2006 Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15177004 2004 Severe malignant osteopetrosis caused by a GL gene mutation.
15108279 2004 Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12826607 2003 Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP.
12627228 2003 Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12079282 2002 Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.