NALF2 (NALCN channel auxiliary factor 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 27112
Gene name NALCN channel auxiliary factor 2
Gene symbol NALF2
Synonyms (NCBI Gene)
CXorf63FAM155BTEDTMEM28bB57D9.1
Chromosome X
Chromosome location Xq13.1
Summary This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011]
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IBA
GO:0015275 Function Stretch-activated, monoatomic cation-selective, calcium channel activity IBA
GO:0016020 Component Membrane IEA
GO:0098703 Process Calcium ion import across plasma membrane IBA
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
HGNC N/A HGNC
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.
O75949
Protein name NALCN channel auxiliary factor 2 (Protein TED) (Transmembrane protein 28) (Transmembrane protein FAM155B)
Protein function Probable component of the NALCN channel complex, a channel that regulates the resting membrane potential and controls neuronal excitability.
Family and domains
Sequence 
MFRGAWMWPGKDAAALTICCCCCCWAPRPSDKPCADSERAQRWRLSLASLLFFTVLLADH
LWLCAGARPRARELSSAMRPPWGAGRERQPVPPRAVLPLPPPPPGEPSAPPGTCGPRYSN
LTKAAPAAGSRPVCGGVPEPTGLDAACTKLQSLQRLFEPTTPAPPLRPPDSLSRAPAEFP
SAKKNLLKGHFRNFTLSFCDTYTVWDLLLGMDRPDSLDCSLDTLMGDLLAVVASPGSGAW
EACSNCIEAYQRLDRHAQEKYDEFDLVLHKYLQAEEYSIRSCTKGCKAVYKAWLCSEYFS
VTQQECQRWVPCKQYCLEVQTRCPFILPDNEEMVYGGLPGFICTGLLDTSPKRLETKCCD
VQWVSCEAKKKKFKESEAPKTHQQQFHHSYFHHYHQQYHHYHPHHDPPGRVSNKPALLPV
SGGSRLSPSRIRLCVLVLMLLHTVVSFSSNQGGGGLGLETLPALEEGLTREE
Sequence length 472
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
GESTATIONAL DIABETES — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration BEFREE 28254726
★★★★★
★☆☆☆☆
Found in Text Mining only
Complement component 3 deficiency C3 Deficiency BEFREE 26847111
★★★★★
★☆☆☆☆
Found in Text Mining only
Sleep Apnea, Obstructive Sleep Apnea BEFREE 30134386
★★★★★
★☆☆☆☆
Found in Text Mining only
Thyroid associated opthalmopathies Thyroid eye disease BEFREE 28133945, 30610229
★★★★★
★☆☆☆☆
Found in Text Mining only