AutismKB 2.0

Annotation Details for NFAM1


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Basic Information Top
Gene Symbol:NFAM1 ( CNAIP,FLJ40652,bK126B4.4 )
Gene Full Name: NFAT activating protein with ITAM motif 1
Band: 22q13.2
Quick LinksEntrez ID:150372; OMIM: 608740; Uniprot ID:NFAM1_HUMAN; ENSEMBL ID: ENSG00000235568; HGNC ID: 29872
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0009986IEA-cell surface-
GO:0016021IDA-integral component of membrane12615919
GO:0035577TAS-azurophil granule membrane-
GO:0045121IEA-membrane raft-
GO ID Evidence Qualifier GO_term References
GO:0004888IDA-transmembrane signaling receptor activity12615919
GO ID Evidence Qualifier GO_term References
GO:0001819NAS-positive regulation of cytokine production12615919
GO:0006954NAS-inflammatory response12615919
GO:0007165IDA-signal transduction12615919
GO:0030183ISS-B cell differentiation15143214
GO:0035556IDA-intracellular signal transduction12615919
GO:0043312TAS-neutrophil degranulation-
GO:0045577IEA-regulation of B cell differentiation-
GO:0050853IEA-B cell receptor signaling pathway-
GO:0050861ISS-positive regulation of B cell receptor signaling pathway15143214
GO:0051091IDA-positive regulation of sequence-specific DNA binding transcription factor activity12615919
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1921289
  • Data Attributes: HomoloGene calculated
No data
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018