SEZ6L2 - seizure related 6 homolog like 2 Gene

Also Known as BSRPA; PSK-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26470

About SEZ6L2

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:29,871,159-29,899,550 (from NCBI)

This gene has 9 transcripts (splice variants), 183 orthologues and 39 paralogues. Broad expression in brain (RPKM 28.3), adrenal (RPKM 11.3) and 14 other tissues.

Summary

This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung Cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

SEZ6L2 Products (9)

mRNA Protein Name
NM_001114099.3 NP_001107571.1 seizure 6-like protein 2 isoform 3 precursor
NM_001114100.3 NP_001107572.1 seizure 6-like protein 2 isoform 4 precursor
NM_001243332.2 NP_001230261.1 seizure 6-like protein 2 isoform 5 precursor
NM_001243333.2 NP_001230262.1 seizure 6-like protein 2 isoform 6 precursor
NM_001388363.1 NP_001375292.1 seizure 6-like protein 2 isoform 7 precursor
NM_001388364.1 NP_001375293.1 seizure 6-like protein 2 isoform 8 precursor
NM_001388365.1 NP_001375294.1 seizure 6-like protein 2 isoform 9 precursor
NM_012410.4 NP_036542.1 seizure 6-like protein 2 isoform 1 precursor
NM_201575.4 NP_963869.2 seizure 6-like protein 2 isoform 2 precursor

SEZ6L2 Protein Structure

CUB

CUB: CUB domain (173 - 283)

Sushi

Sushi: Sushi repeat (SCR repeat) (290 - 345)

Sushi

Sushi: Sushi repeat (SCR repeat) (467 - 523)

CUB

CUB: CUB domain (527 - 618)

Sushi

Sushi: Sushi repeat (SCR repeat) (660 - 699)

Sushi

Sushi: Sushi repeat (SCR repeat) (705 - 764)

Sushi

Sushi: Sushi repeat (SCR repeat) (771 - 828)

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

seizure 6-like protein 2

  • seizure related 6-like protein 2

Recombinant SEZ6L2 Proteins

Cat. No. Product Name Accession Purity
HY-P77200 SEZ6L2/BSRP-A Protein, Human (HEK293, His) Q6UXD5-1 (L28-G736) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Immunodeficiency 27b

  • Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

  • IMD27B

  • Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant

  • Ifngr1 Deficiency, Autosomal Dominant

  • Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

  • Autosomal Dominant Msmd Due To Partial Ifngammar1 Deficiency

  • Autosomal Dominant Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

  • Immunodeficiency 27b, Mycobacteriosis, Ad

  • Autosomal Dominant Ifngr1 Deficiency

  • Autosomal Dominant Immunodeficiency 27b, Mycobacteriosis

  • Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant
Lung Cancer

  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma
Axillary Adenitis

  • Axillary Lymphadenitis
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12755 SEZ6L2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19527 Sez6l2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26022 Sez6l2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SEZ6L2 VGNC VGNC:81567
Felis catus SEZ6L2 VGNC VGNC:80682
Bos taurus SEZ6L2 VGNC VGNC:34504
Rattus norvegicus SEZ6L2 RGD RGD:1565281
Canis familiaris SEZ6L2 VGNC VGNC:46065
Mus musculus SEZ6L2 MGD MGI:2385295
Others SEZ6L2 NCBI