Gene Gene information from NCBI Gene database.
Entrez ID 9848
Gene name Microfibril associated protein 3 like
Gene symbol MFAP3L
Synonyms (NCBI Gene)
NYD-sp9
Chromosome 4
Chromosome location 4q33
miRNA miRNA information provided by mirtarbase database.
264
miRTarBase ID miRNA Experiments Reference
MIRT535968 hsa-miR-3133 PAR-CLIP 22012620
MIRT535967 hsa-miR-4528 PAR-CLIP 22012620
MIRT535966 hsa-miR-6859-3p PAR-CLIP 22012620
MIRT535965 hsa-miR-6846-3p PAR-CLIP 22012620
MIRT535968 hsa-miR-3133 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24735981
GO:0005634 Component Nucleus IDA 24735981
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 24735981
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616523 29083 ENSG00000198948
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75121
Protein name Microfibrillar-associated protein 3-like (Testis development protein NYD-SP9)
Protein function May participate in the nuclear signaling of EGFR and MAPK1/ERK2. May a have a role in metastasis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 47 142 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|Ref.1}.
Sequence
MDRLKSHLTVCFLPSVPFLILVSTLATAKSVTNSTLNGTNVVLGSVPVIIARTDHIIVKE
GNSALINCSVYGIPDPQFKWYNSIGKLLKEEEDEKERGGGKWQMHDSGLLNITKVSFSDR
GKYTCVASNIYGTVNNTVTLRV
IFTSGDMGVYYMVVCLVAFTIVMVLNITRLCMMSSHLK
KTEKAINEFFRTEGAEKLQKAFEIAKRIPIITSAKTLELAKVTQFKTMEFARYIEELARS
VPLPPLIMNCRTIMEEIMEVVGLEEQGQNFVRHTPEGQEAADRDEVYTIPNSLKRSDSPA
ADSDASSLHEQPQQIAIKVSVHPQSKKEHADDQEGGQFEVKDVEETELSAEHSPETAEPS
TDVTSTELTSEEPTPVEVPDKVLPPAYLEATEPAVTHDKNTCIIYESHV
Sequence length 409
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
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
Anxiety Disorders Anxiety Disorder GWASCAT_DG 25390645
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 25390645 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24735981
★☆☆☆☆
Found in Text Mining only