Information on ERBIN
Alt. symbols: ERBB2IP | LAP2
Approved name: erbb2 interacting protein
Alt. names: erbb2-interacting protein | densin-180-like protein, ERBB2-interacting protein
Location: 5q12.3: 65883128 - 66082546 (+)
Gene type: protein_coding, 30 transcripts.
Scores: LoFtool: 0.574000 | pLI: 0.99335691 | LOEUF: 0.285
Gene Ontology (GO)
- Molecular function: signaling receptor binding [GO:0005102]
- Cell component: basolateral plasma membrane [GO:0016323]
- Biological process: cellular response to tumor necrosis factor [GO:0071356]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; signal transduction [GO:0007165]; positive regulation of Ras protein signal transduction [GO:0046579]
Normal function
Dysfunction and disease
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses (Spencer, S et al., 2019). This PID is caused by biallelic mutations in ERBIN. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
HIES6 |
Hyper-IgE recurrent infection syndrome 6 | AR |
- | 0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of ERBIN
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000380938.6 | CCDS58954 | protein_coding | 24 | No | 4701 | NM_001253698 | ||
| 208 | ENST00000506030.6 | CCDS58952 | protein_coding | 26 | No | 4386 | NM_001253699 | ||
| 201 | ENST00000284037.10 | CCDS58953 | Select | protein_coding | 26 | Yes | 8544 | NM_001253697 | |
| 214 | ENST00000511297.5 | CCDS58951 | protein_coding | 25 | No | 4257 | NM_001253701 | ||
| 204 | ENST00000380943.6 | CCDS3990 | protein_coding | 25 | No | 6410 | NM_018695 | ||
| 212 | ENST00000508515.2 | CCDS34172 | protein_coding | 23 | No | 4374 | NM_001006600 | ||
| 221 | ENST00000699005.1 | protein_coding | No | XM_047417377 | |||||
| 226 | ENST00000699010.1 | protein_coding | No | XM_047417385 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in ERBIN
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|