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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
p11.23
Chromosome location (bp)
49053572 - 49069857
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells 1. Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly 2. Recruits NIN and CEP170 to centrosomes 3. Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q96HB5 [Direct mapping] Coiled-coil domain-containing protein 120
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Q96HB5 [Direct mapping] Coiled-coil domain-containing protein 120
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q96HB5 [Direct mapping] Coiled-coil domain-containing protein 120
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Q96HB5 [Direct mapping] Coiled-coil domain-containing protein 120
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Q96HB5 [Direct mapping] Coiled-coil domain-containing protein 120
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
