LHFPL2 (LHFPL tetraspan subfamily member 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 10184 |
| Gene name | LHFPL tetraspan subfamily member 2 |
| Gene symbol | LHFPL2 |
| Synonyms (NCBI Gene) |
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| Chromosome | 5 |
| Chromosome location | 5q14.1 |
| Summary | This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-l |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q6ZUX7 | ||||||||||
| Protein name | LHFPL tetraspan subfamily member 2 protein (Lipoma HMGIC fusion partner-like 2 protein) | ||||||||||
| Protein function | Plays a role in female and male fertility. Involved in distal reproductive tract development. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in all tissues and cell lines examined except brain and peripheral blood leukocytes. {ECO:0000269|PubMed:9039502}. | ||||||||||
| Sequence |
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| Sequence length | 228 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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