NHSL2: NHS-Like 2 Gene
A gene encoding a protein involved in actin cytoskeleton organization and cell adhesion, with potential roles in development and disease.
Gene Information Card
| Symbol | NHSL2 |
|---|---|
| Full Name | NHS-like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 340529 ncbi.nlm.nih.gov/gene/340529 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q5VY43 |
| OMIM ID | 300882 |
| HGNC ID | 28350 |
| Aliases | FLJ32743, MGC138290, NHSL2 |
Description
NHSL2 (NHS-like 2) is a protein-coding gene located on the X chromosome. The encoded protein contains a conserved N-terminal domain similar to NHS (Nance-Horan syndrome protein) and is involved in actin cytoskeleton organization and cell adhesion. NHSL2 is expressed in various tissues, including the brain, eye, and reproductive organs, and may play a role in developmental processes. Mutations in NHSL2 have been associated with X-linked intellectual disability and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations in NHSL2 disrupt actin dynamics and cell adhesion, impairing neuronal development and synaptic function. | PMID: 25439727; ClinVar |
| Nance-Horan syndrome-like phenotype | NHSL2 mutations may phenocopy NHS mutations, affecting lens and craniofacial development through cytoskeletal defects. | PMID: 25439727; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Eye | 8.3 | Low |
| Testis | 15.2 | Medium |
| Lung | 5.1 | Low |
| Kidney | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.0 | Neuronal model |
| HeLa (cervical carcinoma) | 7.2 | Epithelial model |
| HEK293 (embryonic kidney) | 9.5 | Common cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1456_1457del (p.Glu486fs) | Frameshift | Rare | Loss of function; premature stop codon |
| c.203A>G (p.Asn68Ser) | Missense | Unknown | Likely damaging; affects conserved domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, associated with X-linked intellectual disability.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported in NHSL2.
Dominant Negative (DN)
No evidence of dominant-negative effects; X-linked inheritance suggests hemizygous loss-of-function in males.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • cell adhesion |
| • cell migration | • protein binding |
| • cytoplasm | • nucleus |
Pathways
• Actin cytoskeleton regulation
• Cell adhesion and migration
Protein Summary
The NHSL2 protein (UniProt Q5VY43) is a 648-amino acid protein with a conserved N-terminal NHS domain. It localizes to the cytoplasm and nucleus, and interacts with actin and actin-binding proteins to regulate cytoskeletal dynamics. The protein is implicated in cell adhesion, migration, and neuronal morphogenesis. Structural predictions suggest multiple coiled-coil regions and a C-terminal domain of unknown function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NHSL2 Knockout HEK293 Cell Line | EDJ-KQ14423 | Human | 340527 | Details Get a Quote |
| NHSL2 Knockout HeLa Cell Line | EDJ-KQ59680 | Human | 340527 | Details Get a Quote |
| NHSL2 Knockout A-549 Cell Line | EDJ-KQ68151 | Human | 340527 | Details Get a Quote |
| NHSL2 Knockout HCT 116 Cell Line | EDJ-KQ76528 | Human | 340527 | Details Get a Quote |
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