MS4A4A (GeneID: 51338) | Homo sapiens
Description: membrane spanning 4-domains A4A [Source:HGNC Symbol;Acc:HGNC:13371]
Synonyms: HDCME31P, 4SPAN1, S4A7, CD20L1, MS4A4, CD20-L1
Other ID(s): ENSG00000110079, HGNC:13371
Protein Accession Numbers: ENST00000532114, ENST00000395016, ENST00000337908, NP_076926, ENST00000529950, ENST00000355131, NP_001230195, ENST00000527056, ENST00000343968, NP_683876
Statistics: gnomAD(60)
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.
ENST00000337908 ENST00000343968 ENST00000355131 ENST00000395016 ENST00000527056 ENST00000529950 ENST00000532114 NP_001230195 NP_076926 NP_683876


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
PF04103 CD20 CD20-like family 46-188 CL0347 Tetraspannin Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.762 0.172
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.762 0.172
Juvenile-Onset Still Disease Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.762 0.172
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.762 0.172
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.762 0.172
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.762 0.172
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.762 0.172
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.762 0.172
Juvenile arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.762 0.172
Juvenile psoriatic arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.762 0.172
NO RESULT FOUND
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