AutismKB 2.0

Annotation Detail for COL5A2


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Basic Information Top
Gene Symbol:COL5A2 ( MGC105115 )
Gene Full Name: collagen, type V, alpha 2
Band: 2q32.2
Quick LinksEntrez ID:1290; OMIM: 120190; Uniprot ID:CO5A2_HUMAN; ENSEMBL ID: ENSG00000204262; HGNC ID: 2210
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
290Hydroxyproline.
293Hydroxyproline.
296Hydroxyproline.
508Cell attachment site (Potential).
611Hydroxyproline.
617Hydroxyproline.
946Cell attachment site (Potential).
1069Cell attachment site (Potential).
1072Cell attachment site (Potential).
1102Cell attachment site (Potential).
1129Cell attachment site (Potential).
1138Cell attachment site (Potential).
1262N-linked (GlcNAc...) (Potential).
1400N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
290Hydroxyproline.Swiss-Prot 53.0
293Hydroxyproline.Swiss-Prot 53.0
296Hydroxyproline.Swiss-Prot 53.0
611Hydroxyproline.Swiss-Prot 53.0
617Hydroxyproline.Swiss-Prot 53.0
1262N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1400N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
35Phosphotyrosine(EGFR)HMM predict
35Phosphotyrosine(INSR)HMM predict
35SulfotyrosineHMM predict
87Phosphothreonine(CDC2)HMM predict
87Phosphothreonine(MAPK)HMM predict
99Phosphothreonine(CDC2)HMM predict
112O-linkedHMM predict
115O-linkedHMM predict
139O-linkedHMM predict
139Phosphoserine(ATM)HMM predict
143MethylarginineHMM predict
149O-linkedHMM predict
180O-linkedHMM predict
180O-linkedHMM predict
214O-linkedHMM predict
236O-linkedHMM predict
253O-linkedHMM predict
254MethylarginineHMM predict
283Phosphoserine(CDC2)HMM predict
299O-linkedHMM predict
305O-linkedHMM predict
311O-linkedHMM predict
319O-linkedHMM predict
320O-linkedHMM predict
344MethylarginineHMM predict
356MethylarginineHMM predict
377O-linkedHMM predict
386O-linkedHMM predict
392O-linkedHMM predict
404MethylarginineHMM predict
415O-linkedHMM predict
415O-linkedHMM predict
427Phosphothreonine(CDC2)HMM predict
427Phosphothreonine(MAPK)HMM predict
431O-linkedHMM predict
434O-linkedHMM predict
434O-linkedHMM predict
436O-linkedHMM predict
436Phosphoserine(CDC2)HMM predict
440O-linkedHMM predict
440O-linkedHMM predict
440Phosphoserine(ATM)HMM predict
445O-linkedHMM predict
451O-linkedHMM predict
451Phosphoserine(CDC2)HMM predict
451PhosphoserineHMM predict
457O-linkedHMM predict
458O-linkedHMM predict
476O-linkedHMM predict
482O-linkedHMM predict
521MethylarginineHMM predict
527MethylarginineHMM predict
539O-linkedHMM predict
551O-linkedHMM predict
554O-linkedHMM predict
556O-linkedHMM predict
556Phosphoserine(ATM)HMM predict
572MethylarginineHMM predict
575O-linkedHMM predict
613Phosphoserine(IKK)HMM predict
620O-linkedHMM predict
622O-linkedHMM predict
623O-linkedHMM predict
641MethylarginineHMM predict
653O-linkedHMM predict
653O-linkedHMM predict
653Phosphoserine(ATM)HMM predict
674O-linkedHMM predict
710MethylarginineHMM predict
725O-linkedHMM predict
731O-linkedHMM predict
743O-linkedHMM predict
745O-linkedHMM predict
745O-linkedHMM predict
745Phosphoserine(CDC2)HMM predict
745PhosphoserineHMM predict
749O-linkedHMM predict
749O-linkedHMM predict
751Phosphothreonine(MAPK)HMM predict
755O-linkedHMM predict
772O-linkedHMM predict
772Phosphothreonine(CDC2)HMM predict
772Phosphothreonine(MAPK)HMM predict
776O-linkedHMM predict
785O-linkedHMM predict
812O-linkedHMM predict
815O-linkedHMM predict
821MethylarginineHMM predict
830MethylarginineHMM predict
836MethylarginineHMM predict
842O-linkedHMM predict
860O-linkedHMM predict
869O-linkedHMM predict
883O-linkedHMM predict
883Phosphoserine(CDC2)HMM predict
883Phosphoserine(ATM)HMM predict
896O-linkedHMM predict
899MethylarginineHMM predict
908O-linkedHMM predict
916MethylarginineHMM predict
968O-linkedHMM predict
989O-linkedHMM predict
1001MethylarginineHMM predict
1015Phosphothreonine(CDC2)HMM predict
1015Phosphothreonine(MAPK)HMM predict
1022O-linkedHMM predict
1025O-linkedHMM predict
1028O-linkedHMM predict
1039O-linkedHMM predict
1057Phosphothreonine(CDC2)HMM predict
1057Phosphothreonine(CDK)HMM predict
1081O-linkedHMM predict
1081Phosphoserine(ATM)HMM predict
1087Phosphothreonine(CDC2)HMM predict
1087Phosphothreonine(MAPK)HMM predict
1114MethylarginineHMM predict
1118MethylarginineHMM predict
1130O-linkedHMM predict
1142O-linkedHMM predict
1148O-linkedHMM predict
1175MethylarginineHMM predict
1184O-linkedHMM predict
1252Phosphothreonine(CK2)HMM predict
1262N-linkedHMM predict
1281Phosphothreonine(PKC)HMM predict
1284Phosphoserine(CDC2)HMM predict
1340N-linkedHMM predict
1354Phosphoserine(CDC2)HMM predict
1394Phosphoserine(CK1)HMM predict
1398Phosphoserine(ATM)HMM predict
1400N-linkedHMM predict
1411Phosphotyrosine(INSR)HMM predict
1411Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000393
  • Location:chr2 189604886-189752849
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 189667348 189667555 207 0
CTCF CD4GSE12889 189716144 189716532 388 0
CTCF CD4SISSRdata 189667348 189667555 207 0
CTCF CD4SISSRdata 189716144 189716532 388 0
CTCF G2GSE9613 189715991 189716414 423 0
P300 T30-glioblastomaGSE21026 189669471 189670410 939 0
P300 T30-glioblastomaGSE21026 189722784 189723370 586 0
hScc1 BcellGSE12603 189667294 189667756 462 0
hScc1 CdLSGSE12603 189667231 189667720 489 0
hScc1 G2GSE9613 189667231 189667720 489 0
p130 QuiescentGSE19898 189743667 189743813 146 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-29b hsa-mir-29b-1 7 19956414
hsa-miR-29b hsa-mir-29b-2 1 19956414
hsa-miR-29b-1* hsa-mir-29b-1 7 19956414
No data
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


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