EMB
protein-codingembigin, the group of Basigin family |I-set domain containing
Gene summary
This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~47.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to EMB variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_198449.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | 2 | |||
| missense | 40 | 3 | 43 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 43 | 4 | 0 | 47 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_940851.1 | 9 | MANE Select | |
| Ensembl | ENSP00000302289.5 | 9 | MANE Select | |
| Ensembl | ENSP00000425215.1 | 9 | Standard | |
| Ensembl | ENSP00000425215.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Bile salt and organic anion SLC transporters
- Proton-coupled monocarboxylate transport
- Transport of bile salts and organic acids, metal ions and amine compounds
- SLC-mediated transmembrane transport
- Transport of small molecules
Biological Process
- homophilic cell adhesion via plasma membrane adhesion molecules
- axon guidance
- plasma membrane lactate transport
- dendrite self-avoidance
Molecular Function
- monocarboxylic acid transmembrane transporter activity
- cell-cell adhesion mediator activity
Cellular Component
- plasma membrane
- integral component of plasma membrane
- cell junction
- axon
- synapse
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000303221
- Coding exons
- 9
- Length
- 47057
- Individuals with no LoFs
- 125664
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 43
- Defined
- 125707
- p
- 0.000171
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.556 | 174 | 155 | 1.13 | 0.00000709 | 2141 |
| Missense (PolyPhen) | 36 | 36.821 | 0.9777 | 551 | ||
| Synonymous | -0.834 | 66 | 57.9 | 1.14 | 0.00000289 | 600 |
| Loss of Function | 0.0295 | 17 | 17.1 | 0.992 | 7.84e-7 | 222 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00019 | 0.00018 | rare |
| Latino/Admixed American | 0.00049 | 0.00043 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00017 | 0.00016 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00014 | 0.00013 | rare |
| South Asian | 0.00023 | 0.00023 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. May play a role in targeting the monocarboxylate transporters SLC16A1 and SLC16A7 to the cell membrane (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.135
Intolerance Scores
- LoFtool
- 0.721
- RVIS EVS
- 0.17
- RVIS percentile EVS
- 65.76
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0503
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |