AMMECR1L: AMMECR1 Like Gene – Structure, Function, and Clinical Relevance
Comprehensive biomedical overview of AMMECR1L, including genomic annotation, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | AMMECR1L |
|---|---|
| Full Name | AMMECR1 like |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 83607 ncbi.nlm.nih.gov/gene/83607 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | Q5T8I9 |
| OMIM ID | 616135 |
| HGNC ID | 26767 |
| Aliases | C2orf72, MGC13170, FLJ22662 |
Description
AMMECR1L (AMMECR1 like) is a protein-coding gene located on chromosome 2q33.1. It encodes a protein of unknown function, but sequence similarity suggests it may be involved in cellular processes related to AMMECR1. The gene is conserved in vertebrates and is expressed in multiple tissues. Variants in AMMECR1L have been reported in association with developmental disorders, though functional characterization is limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental disorder with intellectual disability | Likely loss-of-function variants disrupting protein function | ClinVar (SCV001422345) |
| Autism spectrum disorder | Missense variants of uncertain significance | ClinVar (SCV001422346) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Liver | 5.2 | Low |
| Kidney | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | RNA-seq data from GTEx |
| K562 | 7.8 | RNA-seq data from GTEx |
| HeLa | 9.1 | RNA-seq data from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163*) | Nonsense | <0.01% | Loss of function |
| c.632A>G (p.Tyr211Cys) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Arg163* predicted to cause nonsense-mediated decay or truncated protein, likely leading to loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in AMMECR1L.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
Protein Summary
The AMMECR1L protein (UniProt Q5T8I9) is 346 amino acids long with a molecular mass of ~39 kDa. It contains a conserved domain of unknown function (DUF) and is predicted to localize to the cytoplasm. No enzymatic activity or specific binding partners have been experimentally validated. The protein shares homology with AMMECR1, which is involved in midface development and renal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMMECR1L Knockout HEK293 Cell Line | EDJ-KQ9870 | Human | 83607 | Details Get a Quote |
| AMMECR1L Knockout A-549 Cell Line | EDJ-KQ36743 | Human | 83607 | Details Get a Quote |
| AMMECR1L Knockout HCT 116 Cell Line | EDJ-KQ36744 | Human | 83607 | Details Get a Quote |
| AMMECR1L Knockout HeLa Cell Line | EDJ-KQ36745 | Human | 83607 | Details Get a Quote |
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