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BTBD9
HPA
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  • BTBD9
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

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.

BTBD9
Synonyms dJ322I12.1, KIAA1880
Gene descriptioni

Full gene name according to HGNC.

BTB domain containing 9
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease 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.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

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 6
Cytoband p21.2
Chromosome location (bp) 38168451 - 38640148
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

8
Ensembl ENSG00000183826 (version 109)
Entrez gene 114781
HGNC HGNC:21228
UniProt Q96Q07 (UniProt - Evidence at protein level)
neXtProt NX_Q96Q07
GeneCards BTBD9
Antibodypedia BTBD9 antibodies


PROTEIN FUNCTION
Gene summary (Entrez)i

Useful information about the gene from Entrez

This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]... 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.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
BTBD9-201
ENSP00000323408
ENST00000314100
Q96Q07
[Direct mapping] BTB/POZ domain-containing protein 9
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0008344 [adult locomotory behavior]
GO:0048512 [circadian behavior]
GO:0050804 [modulation of chemical synaptic transmission]
Show all
544 aa
61.6 kDa
No 0
BTBD9-203
ENSP00000386121
ENST00000403056
A0A0A0MSF2
[Direct mapping] BTB/POZ domain-containing protein 9
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
385 aa
43.9 kDa
No 0
BTBD9-204
ENSP00000386211
ENST00000408958
A0A0A0MSF4
[Direct mapping] BTB/POZ domain-containing protein 9
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
354 aa
40.2 kDa
No 0
BTBD9-205
ENSP00000415365
ENST00000419706
Q96Q07
[Direct mapping] BTB/POZ domain-containing protein 9
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0008344 [adult locomotory behavior]
GO:0048512 [circadian behavior]
GO:0050804 [modulation of chemical synaptic transmission]
Show all
582 aa
65.7 kDa
No 0
BTBD9-206
ENSP00000418751
ENST00000481247
Q96Q07
[Direct mapping] BTB/POZ domain-containing protein 9
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0007616 [long-term memory]
GO:0008344 [adult locomotory behavior]
GO:0042428 [serotonin metabolic process]
GO:0042748 [circadian sleep/wake cycle, non-REM sleep]
GO:0048512 [circadian behavior]
GO:0050804 [modulation of chemical synaptic transmission]
GO:0050951 [sensory perception of temperature stimulus]
GO:0060586 [multicellular organismal iron ion homeostasis]
GO:0098978 [glutamatergic synapse]
GO:1900242 [regulation of synaptic vesicle endocytosis]
Show all
612 aa
69.2 kDa
No 0
BTBD9-207
ENSP00000418201
ENST00000497373
C9J8E4
[Direct mapping] BTB/POZ domain-containing protein 9
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
115 aa
13.1 kDa
No 0
BTBD9-208
ENSP00000419382
ENST00000498633
C9JVC1
[Direct mapping] BTB/POZ domain-containing protein 9
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
92 aa
10.4 kDa
No 0
BTBD9-209
ENSP00000497066
ENST00000649492
Q96Q07
[Direct mapping] BTB/POZ domain-containing protein 9
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0008344 [adult locomotory behavior]
GO:0048512 [circadian behavior]
GO:0050804 [modulation of chemical synaptic transmission]
Show all
612 aa
69.2 kDa
No 0

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