SEZ6L2

Protein identityUniProt · HPA

UniProt accession

Q6UXD5

Gene

SEZ6L2

Ensembl

ENSG00000174938

Chromosome

16

Canonical length

910 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

910 residues, UniProt reviewed canonical sequence.

>Q6UXD5|SEZ6L2
     1  MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL
    61  RRGPEMGYLP GSDRDPTLAT PPAGQTLAVP SLPRATEPGT GPLTTAVTPN GVRGAGPTAP
   121  ELLTPPPGTT APPPPSPASP GPPLGPEGGE EETTTTIITT TTVTTTVTSP VLCNNNISEG
   181  EGYVESPDLG SPVSRTLGLL DCTYSIHVYP GYGIEIQVQT LNLSQEEELL VLAGGGSPGL
   241  APRLLANSSM LGEGQVLRSP TNRLLLHFQS PRVPRGGGFR IHYQAYLLSC GFPPRPAHGD
   301  VSVTDLHPGG TATFHCDSGY QLQGEETLIC LNGTRPSWNG ETPSCMASCG GTIHNATLGR
   361  IVSPEPGGAV GPNLTCRWVI EAAEGRRLHL HFERVSLDED NDRLMVRSGG SPLSPVIYDS
   421  DMDDVPERGL ISDAQSLYVE LLSETPANPL LLSLRFEAFE EDRCFAPFLA HGNVTTTDPE
   481  YRPGALATFS CLPGYALEPP GPPNAIECVD PTEPHWNDTE PACKAMCGGE LSEPAGVVLS
   541  PDWPQSYSPG QDCVWGVHVQ EEKRILLQVE ILNVREGDML TLFDGDGPSA RVLAQLRGPQ
   601  PRRRLLSSGP DLTLQFQAPP GPPNPGLGQG FVLHFKEVPR NDTCPELPPP EWGWRTASHG
   661  DLIRGTVLTY QCEPGYELLG SDILTCQWDL SWSAAPPACQ KIMTCADPGE IANGHRTASD
   721  AGFPVGSHVQ YRCLPGYSLE GAAMLTCYSR DTGTPKWSDR VPKCALKYEP CLNPGVPENG
   781  YQTLYKHHYQ AGESLRFFCY EGFELIGEVT ITCVPGHPSQ WTSQPPLCKV TQTTDPSRQL
   841  EGGNLALAIL LPLGLVIVLG SGVYIYYTKL QGKSLFGFSG SHSYSPITVE SDFSNPLYEA
   901  GDTREYEVSI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEZ6L2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

99 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SEZ6L2.

Disease | AutoantibodyPubMed

Conditions in which antibodies against SEZ6L2 are reported. Each links to that disease's full target list.

• Cerebellar Ataxia 4
• Autoimmune Diseases of the Nervous System 3

ReferencesPubMed · IEDB

Publications for SEZ6L2 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.42

gnomAD pLI

0.12

gnomAD missense Z

1.75

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult locomotory behavior
• cerebellar Purkinje cell layer development
• synapse maturation

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum membrane
• neuronal cell body
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Sushi/SCR/CCP domain
• CUB domain
• Spermadhesin, CUB domain superfamily
• Sushi/SCR/CCP superfamily
• SEZ6/CSMD/C4BPB Neuronal & Immune Regulators
• Sushi repeat (SCR repeat)
• CUB domain

KeywordsUniProt

• Cell membrane
• Disulfide bond
• Endoplasmic reticulum
• Glycoprotein
• Membrane
• Repeat
• Signal
• Sushi
• Transmembrane
• Transmembrane helix