AutismKB 2.0

Annotation Detail for GPNMB


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Basic Information Top
Gene Symbol:GPNMB ( HGFIN,NMB )
Gene Full Name: glycoprotein (transmembrane) nmb
Band: 7p15.3
Quick LinksEntrez ID:10457; OMIM: 604368; Uniprot ID:GPNMB_HUMAN; ENSEMBL ID: ENSG00000136235; HGNC ID: 4462
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
66Cell attachment site (Potential).
93N-linked (GlcNAc...) (Potential).
134N-linked (GlcNAc...) (Potential).
146N-linked (GlcNAc...) (Potential).
200N-linked (GlcNAc...).
249N-linked (GlcNAc...).
275N-linked (GlcNAc...).
296N-linked (GlcNAc...).
300N-linked (GlcNAc...).
306N-linked (GlcNAc...).
312N-linked (GlcNAc...) (Potential).
459N-linked (GlcNAc...) (Potential).
467N-linked (GlcNAc...) (Potential).
542Phosphoserine (By similarity).
Location(AA) Modifications Resource
93N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
134N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
146N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
200N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
249N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
275N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
296N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
300N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
306N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
312N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
459N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
467N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
49Phosphoserine(CK2)HMM predict
83Phosphothreonine(PKC)HMM predict
93N-linkedHMM predict
99N-linkedHMM predict
134N-linkedHMM predict
135C-linkedHMM predict
146N-linkedHMM predict
195Phosphoserine(PKG)HMM predict
200N-linkedHMM predict
230Phosphotyrosine(Jak)HMM predict
249N-linkedHMM predict
250Phosphoserine(CK1)HMM predict
250Phosphoserine(CK2)HMM predict
250PhosphoserineHMM predict
275N-linkedHMM predict
280N-linkedHMM predict
296N-linkedHMM predict
300N-linkedHMM predict
306N-linkedHMM predict
312N-linkedHMM predict
333O-linkedHMM predict
336Phosphothreonine(CDK)HMM predict
338O-linkedHMM predict
348O-linkedHMM predict
459N-linkedHMM predict
467N-linkedHMM predict
475Phosphoserine(IKK)HMM predict
480O-linkedHMM predict
492Phosphoserine(IKK)HMM predict
492Phosphoserine(CDC2)HMM predict
525Phosphotyrosine(INSR)HMM predict
525Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001005340
  • Location:chr7 23252840-23281252
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 23240898 23241106 208 11839
p63 keratinocytesGSE17611 23241849 23242776 927 10528
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23283582 23283897 315 2487
CTCF CD4SISSRdata 23283582 23283897 315 2487
CTCF G2GSE9613 23283407 23283871 464 2387
Fos K562GSE19551 23291730 23292334 604 10780
KLF4 hESGSE17917 23292395 23292737 342 11314
hScc1 CdLSGSE12603 23283407 23283988 581 2445
hScc1 G2GSE9613 23283407 23283950 543 2426
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23267966 23268278 312 0
CTCF CD4GSE12889 23279251 23279718 467 0
CTCF CD4SISSRdata 23267966 23268278 312 0
CTCF CD4SISSRdata 23279251 23279718 467 0
CTCF HelaGSE12889 23267933 23268288 355 0
CTCF JurkatGSE12889 23279278 23279498 220 0
CTCF G2GSE9613 23253496 23254575 1079 0
CTCF G2GSE9613 23267954 23268296 342 0
CTCF G2GSE9613 23279234 23279705 471 0
Fos K562GSE19551 23279179 23279838 659 0
H3K27me3 colorectalcancer 23252670 23253337 667 0
Myc K562GSE19551 23262796 23263244 448 0
Myc K562GSE19551 23279261 23279713 452 0
P300 T30-glioblastomaGSE21026 23259900 23260756 856 0
TFAP2C MCF7GSE21234 23252704 23253473 769 0
TFAP2C MCF7GSE21234 23279184 23279794 610 0
hScc1 BcellGSE12603 23267954 23268331 377 0
hScc1 BcellGSE12603 23279234 23279669 435 0
hScc1 CdLSGSE12603 23267954 23268331 377 0
hScc1 CdLSGSE12603 23279234 23279705 471 0
hScc1 G2GSE9613 23253531 23254508 977 0
hScc1 G2GSE9613 23267954 23268331 377 0
hScc1 G2GSE9613 23279234 23279739 505 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
23733 mRNA GPNMB chr7 23059555 23087968 478 EST chr7 23087154 23087632Sense/Antisense (SA) pairs

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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