SEMA5B Gene Summary [Human]
This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Details
| Type | Protein Coding |
| Official Symbol | SEMA5B |
| Official Name | semaphorin 5B [Source:HGNC Symbol;Acc:HGNC:10737] |
| Ensembl ID | ENSG00000082684 |
| Bio databases IDs | |
| Aliases | semaphorin 5B |
| Synonyms | AI893641, mKIAA1445, SEMA domain, SEVEN THROMBOSPONDIN REPEATS, sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B, SEMAG, semaphorin 5B, Semaphorin G, SemG |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SEMA5B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Thrombospondin type 1 repeats
- Thrombospondin type 1 domain
- semaphorin domain
- Plexin repeat
- Spondin-like TSP1 domain
- Sema domain
- The Sema domain, a protein interacting module, of semaphorins and plexins
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal clear cell adenocarcinoma
- renal clear cell cancer
- dental enamel hypoplasia
- survival
- hemangioma
- angiomatosis
- esophageal carcinoma
- esophageal carcinoma formation
- preeclampsia
- productive infection by HIV-1
role in cell
- dysfunction
- abnormal morphology
- mistargeting
- extension
- fasciculation in
- fasciculation
- electrophysiology
- outgrowth in
- outgrowth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SEMA5B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- detection of light stimulus involved in visual perception
- negative chemotaxis
- neural crest cell migration
- axon extension
- axon guidance
- semaphorin-plexin signaling pathway
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- chemorepellent activity
- semaphorin receptor binding