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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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Q96JP0 |
| Protein name |
Protein fem-1 homolog C (FEM1c) (FEM1-gamma) |
| Protein function |
Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their |
| PDB |
6LBG
, 6LBN
, 6LDP
, 6LE6
, 6LEN
, 6LEY
, 6LF0
, 6XKC
, 7JYA
, 8PQL
, 8Q7R
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF12796 |
Ank_2 |
86 → 179 |
Ankyrin repeats (3 copies) |
Repeat |
| PF12796 |
Ank_2 |
2 → 72 |
Ankyrin repeats (3 copies) |
Repeat |
| PF13857 |
Ank_5 |
514 → 568 |
|
Repeat |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, cardiac tissue, skeletal muscle and testis. Expressed at lower levels in other tissues, including cartilage. {ECO:0000269|PubMed:11733146, ECO:0000269|PubMed:14527725}. |
| Sequence |
|
| Sequence length |
617 |
| Interactions |
View interactions |
|
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)
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
Evidence Score |
| Neurodevelopmental disorder |
Likely pathogenic |
rs2531722094 |
RCV004786907 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ASTHMA |
— |
GWAS catalog
|
29679657 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| COMPLEX NEURODEVELOPMENTAL DISORDER |
— |
GWAS catalog
|
28135719, 34566579 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CONOTRUNCAL HEART MALFORMATIONS |
— |
GWAS catalog
|
28468790, 34356046 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NEURODEVELOPMENTAL DISORDERS |
— |
Disgenet, ClinGen
|
ClinGen report |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Hyperandrogenism |
Hyperandrogenism |
BEFREE |
16390781 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myocardial Infarction |
Myocardial Infarction |
BEFREE |
19406122 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ovarian Diseases |
Ovarian diseases |
Pubtator |
16390781 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
BEFREE |
16390781, 18757445 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
Pubtator |
16390781, 18757445 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
LHGDN |
18757445 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
BEFREE |
16254458 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
LHGDN |
16254458 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
|