Harmonizome 3.0

neurofibromin 1

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

defensin, alpha 1 and alpha 3, variable copy number locus

Oncogene liposarcoma (DNA segment, single copy, expressed, probes

complement component 4B (Chido blood group), copy 2

This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. [provided by RefSeq, Jul 2011]

GTF2H2 family member C, copy 2

Predicted to enable zinc ion binding activity. Predicted to be involved in nucleotide-excision repair and regulation of transcription by RNA polymerase II. Located in nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

Bone mineral density variation QTL 5

Bone mineral density variation 2

Bone mineral density variation QTL 4

gene expression, variation in, quantitative trait locus

gene expression, variation in, quantitative trait locus

QT interval, variation in