2. Gene
  3. SEZ6 - seizure related 6 homolog Gene

SEZ6 - seizure related 6 homolog Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BSRPC

Gene ID: 124925 | Gene type: protein coding

About SEZ6

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,954,905-29,006,440 (from NCBI)

This gene has 9 transcripts (splice variants), 247 orthologues and 39 paralogues. Restricted expression toward brain (RPKM 16.6).

Summary

The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]

SEZ6 Products(3)

mRNA Protein Name
NM_001098635.2 NP_001092105.1 seizure protein 6 homolog isoform 2 precursor
NM_001290202.2 NP_001277131.1 seizure protein 6 homolog isoform 3
NM_178860.5 NP_849191.3 seizure protein 6 homolog isoform 1 precursor
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SEZ6 Protein Structure

Sushi

Sushi: Sushi repeat (SCR repeat) (357 - 412)

CUB

CUB: CUB domain (416 - 524)

Sushi

Sushi: Sushi repeat (SCR repeat) (532 - 589)

CUB

CUB: CUB domain (593 - 695)

Sushi

Sushi: Sushi repeat (SCR repeat) (710 - 765)

Sushi

Sushi: Sushi repeat (SCR repeat) (771 - 830)

Sushi

Sushi: Sushi repeat (SCR repeat) (851 - 895)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 994 a.a.
Protein Preferred Names Protein Names

seizure protein 6 homolog

Recombinant SEZ6 Proteins

Cat. No. Product Name Accession Purity
HY-P78036 SEZ6/BSRP-C Protein, Human (HEK293, His) Q53EL9-1 (L20-H925) ≥95%

Related Diseases

Diseases Alias
Childhood-Onset Schizophrenia

Childhood Schizophrenia

Schizophrenia, Childhood
Febrile Seizures

Febrile Seizure

Febrile Convulsions

Seizures Febrile
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12753 SEZ6 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS12754 SEZ6L Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-RS12755 SEZ6L2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SEZ6 VGNC VGNC:65049
Canis familiaris SEZ6 VGNC VGNC:46063
Rattus norvegicus SEZ6 RGD RGD:619780
Bos taurus SEZ6 VGNC VGNC:34502
Macaca mulatta SEZ6 VGNC VGNC:77240
Mus musculus SEZ6 MGD MGI:104745
Macaca fascicularis SEZ6 NCBI NCBI:101865998
Others SEZ6 NCBI