AutismKB 2.0

Annotation Detail for SLC4A4


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Basic Information Top
Gene Symbol:SLC4A4 ( DKFZp781H1314,HNBC1,KNBC,NBC1,NBC2,SLC4A5,hhNMC,pNBC )
Gene Full Name: solute carrier family 4, sodium bicarbonate cotransporter, member 4
Band: 4q13.3
Quick LinksEntrez ID:8671; OMIM: 603345; Uniprot ID:S4A4_HUMAN; ENSEMBL ID: ENSG00000080493; HGNC ID: 11030
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
30Phosphotyrosine (By similarity).
49Phosphothreonine; by PKA.
254Phosphothreonine (By similarity).
255Phosphoserine (By similarity).
257Phosphoserine (By similarity).
262Phosphoserine (By similarity).
641N-linked (GlcNAc...) (By similarity).
661N-linked (GlcNAc...) (By similarity).
1026Phosphoserine; by PKA.
1029Phosphoserine (By similarity).
1034Phosphoserine (By similarity).
Location(AA) Modifications Resource
49Phosphothreonine (by PKA).Swiss-Prot 53.0
254Phosphothreonine (By similarity).Swiss-Prot 53.0
257Phosphoserine (By similarity).Swiss-Prot 53.0
262Phosphoserine (By similarity).Swiss-Prot 53.0
641N-linked (GlcNAc...) (By similarity).Swiss-Prot 53.0
661N-linked (GlcNAc...) (By similarity).Swiss-Prot 53.0
1026Phosphoserine (by PKA).Swiss-Prot 53.0
1026Phosphoserine (PKA
1029Phosphoserine (By similarity).Swiss-Prot 53.0
1034Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
49Phosphothreonine(PKC)HMM predict
63N-linkedHMM predict
65Phosphoserine(CK1)HMM predict
77Phosphoserine(CK1)HMM predict
79Phosphoserine(IKK)HMM predict
79Phosphoserine(CK1)HMM predict
86Phosphoserine(MAPK)HMM predict
102Phosphoserine(ATM)HMM predict
102Phosphoserine(IKK)HMM predict
216Phosphothreonine(PKC)HMM predict
243N-linkedHMM predict
249Phosphothreonine(PKC)HMM predict
252N-linkedHMM predict
396Phosphoserine(IKK)HMM predict
462Phosphotyrosine(Jak)HMM predict
541N-linkedHMM predict
546N-linkedHMM predict
547N-linkedHMM predict
550Phosphotyrosine(EGFR)HMM predict
610Phosphotyrosine(INSR)HMM predict
641N-linkedHMM predict
661N-linkedHMM predict
716Phosphoserine(CDC2)HMM predict
763Phosphoserine(CDC2)HMM predict
995Phosphoserine(ATM)HMM predict
1029Phosphoserine(CK2)HMM predict
1038Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003759
  • Location:chr4 72423680-72656662
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 72627463 72627807 344 0
Myc K562GSE19551 72490913 72491404 491 0
Nanog ESGSE20650 72503718 72504028 310 0
Oct1 H2O2-HelaGSE14283 72649995 72650039 44 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

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