2. Gene
  3. SEZ6L2 - seizure related 6 homolog like 2 Gene

SEZ6L2 - seizure related 6 homolog like 2 Gene

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

Also known as BSRPA; PSK-1

Gene ID: 26470 | Gene type: protein coding

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)

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  • 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 (L28-G736) ≥95%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12755 SEZ6L2 Human Pre-designed siRNA Set A / 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