Gene Gene information from NCBI Gene database.
Entrez ID 56929
Gene name Fem-1 homolog C
Gene symbol FEM1C
Synonyms (NCBI Gene)
EUROIMAGE686608EUROIMAGE783647FEM1A
Chromosome 5
Chromosome location 5q22.3
miRNA miRNA information provided by mirtarbase database.
774
miRTarBase ID miRNA Experiments Reference
MIRT027153 hsa-miR-103a-3p Sequencing 20371350
MIRT028176 hsa-miR-93-5p Sequencing 20371350
MIRT031336 hsa-miR-18a-5p Sequencing 20371350
MIRT031848 hsa-miR-16-5p Sequencing 20371350
MIRT238220 hsa-miR-6835-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608767 16933 ENSG00000145780
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 2 72 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 86 179 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
MDLKTAVFNAARDGKLRLLTKLLASKSKEEVSSLISEKTNGATPLLMAARYGHLDMVEFL
LEQCSASIEVGG
SVNFDGETIEGAPPLWAASAAGHLKVVQSLLNHGASVNNTTLTNSTPL
RAACFDGHLEIVKYLVEHKADLEVSNRHGHTCLMISCYKGHKEIAQYLLEKGADVNRKS
V
KGNTALHDCAESGSLDIMKMLLMYCAKMEKDGYGMTPLLSASVTGHTNIVDFLTHHAQTS
KTERINALELLGATFVDKKRDLLGALKYWKKAMNMRYSDRTNIISKPVPQTLIMAYDYAK
EVNSAEELEGLIADPDEMRMQALLIRERILGPSHPDTSYYIRYRGAVYADSGNFKRCINL
WKYALDMQQSNLDPLSPMTASSLLSFAELFSFMLQDRAKGLLGTTVTFDDLMGILCKSVL
EIERAIKQTQCPADPLQLNKALSIILHLICLLEKVPCTLEQDHFKKQTIYRFLKLHPRGK
NNFSPLHLAVDKNTTCVGRYPVCKFPSLQVTAILIECGADVNVRDSDDNSPLHIAALNNH
PDIMNLLIKSGAHFDATNLHKQTASDLL
DEKEIAKNLIQPINHTTLQCLAARVIVNHRIY
YKGHIPEKLETFVSLHR
Sequence length 617
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder Likely pathogenic rs2531722094 RCV004786907
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
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