NBPF4 (NBPF member 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 148545
Gene name NBPF member 4
Gene symbol NBPF4
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p13.3
Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the
miRNA miRNA information provided by mirtarbase database.
18
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
MIRT1175524 hsa-miR-371-5p CLIP-seq
MIRT1175525 hsa-miR-371b-5p CLIP-seq
MIRT1175526 hsa-miR-4762-5p CLIP-seq
MIRT1175527 hsa-miR-513c CLIP-seq
MIRT1175528 hsa-miR-514b-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613994 26550 ENSG00000196427
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96M43
Protein name NBPF family member NBPF4 (Neuroblastoma breakpoint family member 4)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06758 Olduvai 180 → 242 Olduvai domain Domain
PF06758 Olduvai 332 → 397 Olduvai domain Domain
PF06758 Olduvai 406 → 471 Olduvai domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:16079250}.
Sequence 
MVVSADPLSSERAEMNILEINQELRSQLAESNQQFRDLKEKFLITQATAYSLANQLKKYK
CEEYKDIIDSVLRDELQSMEKLAEKLRQAEELRQYKALVHSQAKELTQLREKLREGRDAS
RWLNKHLKTLLTPDDPDKSQGQDLREQLAEGHRLAEHLVHKLSPENDEDEDEDEDDKDEE
VEKVQESPAPREVQKTEEKEVPQDSLEECAVTCSNSHNPSNSNQPHRSTKITFKEHEVDS
ALVVESEHPHDEEEEALNIPPENQNDHEEEEGKAPVPPRHHDKSNSYRHREVSFLALDEQ
KVCSAQDVARDYSNPKWDETSLGFLEKQSDLEEVKGQETVAPRLSRGPLRVDKHEIPQES
LDGCCLTPSILPDLTPSYHPYWSTLYSFEDKQVSLALVDKIKKDQEEIEDQSPPCPRLSQ
ELPEVKEQEVPEDSVNEVYLTPSVHHDVSDCHQPYSSTLSSLEDQLACSALDVASPTEAA
CPQGTWSGDLSHHQSEVQVSQAQLEPSTLVPSCLRLQLDQGFHCGNGLAQRGLSSTTCSF
SANADSGNQWPFQELVLEPSLGMKNPPQLEDDALEGSASNTQGRQVTGRIRASLVLILKT
IRRRLPFSKWRLAFRFAGPHAESAEIPNTAGRTQRMAG
Sequence length 638
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations