SPTLC2 (GeneID: 9517) | Homo sapiens
Description: serine palmitoyltransferase long chain base subunit 2 [Source:HGNC Symbol;Acc:HGNC:11278]
Synonyms: LCB2A, hLCB2a, SPT2, LCB2, NSAN1C, HSN1C
Other ID(s): ENSG00000100596, HGNC:11278
Protein Accession Numbers: ENST00000556607, ENST00000216484, ENST00000554901, NP_004854, ENST00000216484.2
Statistics: gnomAD(295)
gnomAD Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000216484 ENST00000554901 ENST00000556607 NP_004854


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Charcot-Marie-Tooth Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.727 0.241
Dysautonomia, Familial Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.727 0.241
Hereditary Sensory Autonomic Neuropathy, Type 1 Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.727 0.241
Pain Disorder Mental Disorders ; 0.727 0.241
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC N/A 0.727 0.241
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.727 0.241
NO RESULT FOUND
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