NIPSNAP2 (nipsnap homolog 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 2631
Gene name Nipsnap homolog 2
Gene symbol NIPSNAP2
Synonyms (NCBI Gene)
GBAS
Chromosome 7
Chromosome location 7p11.2
Summary This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IDA 30982665
GO:0000423 Process Mitophagy IEA
GO:0005515 Function Protein binding IPI 20562859, 25126726, 26387735
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603004 4179 ENSG00000146729
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75323
Protein name Protein NipSnap homolog 2 (NipSnap2) (Glioblastoma-amplified sequence)
Protein function Protein involved in mitophagy by facilitating recruitment of the autophagy machinery required for clearance of damaged mitochondria (PubMed:30982665). Accumulates on the mitochondria surface in response to mitochondrial depolarization and acts a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07978 NIPSNAP 187 → 284 NIPSNAP Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:9615231). Most abundant in heart and skeletal muscle (PubMed:9615231). {ECO:0000269|PubMed:9615231}.
Sequence 
MAARVLRARGAAWAGGLLQRAAPCSLLPRLRTWTSSSNRSREDSWLKSLFVRKVDPRKDA
HSNLLAKKETSNLYKLQFHNVKPECLEAYNKICQEVLPKIHEDKHYPCTLVGTWNTWYGE
QDQAVHLWRYEGGYPALTEVMNKLRENKEFLEFRKARSDMLLSRKNQLLLEFSFWNEPVP
RSGPNIYELRSYQLRPGTMIEWGNYWARAIRFRQDGNEAVGGFFSQIGQLYMVHHLWAYR
DLQTREDIRNAAWHKHGWEELVYYTVPLIQEMESRIMIPLKTSPLQ
Sequence length 286
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene 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 (2)
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
MACULAR TELANGIECTASIA TYPE 2 — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Esophageal Neoplasms Esophageal neoplasm Pubtator 34036378 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 29806744
★★★★★
★☆☆☆☆
Found in Text Mining only