Gpnmb Gene Detail

Summary

• Symbol
  Gpnmb
• Name
  glycoprotein (transmembrane) nmb
• Synonyms
  Dchil, DC-HIL, Osteoactivin

• Feature Type
  protein coding gene
• IDs
  MGI:1934765
  NCBI Gene: 93695
• Alliance
  gene page
• Transcription Start Sites
  93 TSS

Location &
Maps

• Sequence Map
  Chr6:49013449-49044413 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 6, 23.82 cM
• Mapping Data
  6 experiments

Strain
Comparison

• SNPs within 2kb
  897 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1934765	protein coding gene	Chr6:49013449-49047863 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030719	protein coding gene	Chr6:48019507-48056183 (+)
A/J	MGP_AJ_G0030690	protein coding gene	Chr6:45828574-45863572 (+)
AKR/J	MGP_AKRJ_G0030615	protein coding gene	Chr6:47441687-47480559 (+)
BALB/cJ	MGP_BALBcJ_G0030700	protein coding gene	Chr6:46167862-46202479 (+)
C3H/HeJ	MGP_C3HHeJ_G0030413	protein coding gene	Chr6:47441716-47481386 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031155	protein coding gene	Chr6:49150118-49188236 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028362	protein coding gene	Chr6:43436984-43475833 (+)
CAST/EiJ	MGP_CASTEiJ_G0029817	protein coding gene	Chr6:47172572-47207502 (+)
CBA/J	MGP_CBAJ_G0030388	protein coding gene	Chr6:51183429-51226571 (+)
DBA/2J	MGP_DBA2J_G0030537	protein coding gene	Chr6:45740821-45776026 (+)
FVB/NJ	MGP_FVBNJ_G0030489	protein coding gene	Chr6:45378081-45418193 (+)
LP/J	MGP_LPJ_G0030622	protein coding gene	Chr6:48000622-48036976 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030523	protein coding gene	Chr6:53958314-53992703 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031184	protein coding gene	Chr6:47307141-47345025 (+)
PWK/PhJ	MGP_PWKPhJ_G0029529	protein coding gene	Chr6:45284720-45322071 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029365	protein coding gene	Chr6:46654050-46689724 (+)
WSB/EiJ	MGP_WSBEiJ_G0029894	protein coding gene	Chr6:47308668-47344431 (+)

Homology

• Human Ortholog
  GPNMB, glycoprotein nmb

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  GPNMB, glycoprotein nmb
  
• Synonyms
  HGFIN, NMB, PLCA3
• Links
  HGNC:4462

  NCBI Gene ID: 10457

  neXtProt AC: NX_Q14956

  UniProt: Q14956

  
  
• Chr Location
  7p15.3; chr7:23235967-23275108 (+)  GRCh38

---

• MGI Vertebrate Homology
  Gpnmb stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: GPNMB
• Gene Tree
  Gpnmb
  

Human Diseases

• Diseases
  1 with Gpnmb mouse models; 1 with human GPNMB associations

Human Disease

Mouse Models

pigment dispersion syndrome

IDs

pigment dispersion syndrome      

DOID:0060680
MESH:C563184
OMIM:600510

View 5 models

Mouse Models

Human Disease Modeled: pigment dispersion syndrome

Allelic Composition	Genetic Background	Reference	Phenotypes
GpnmbR150X/GpnmbR150X	B6.D2-Gpnmb^R150X	J:128215	View
GpnmbR150X/GpnmbR150X	DBA/2J	J:54013	View
GpnmbR150X/GpnmbR150X	involves: C57BL/6J * DBA/2J	J:54013	View
GpnmbR150X/GpnmbR150X Tyrp1isa/Tyrp1isa	DBA/2J	J:54013	View
GpnmbR150X/GpnmbR150X Tyrp1isa/Tyrp1isa	involves: C57BL/6J * DBA/2J	J:54013	View

primary localized cutaneous amyloidosis 3

IDs

primary localized cutaneous amyloidosis 3      

DOID:0080932
OMIM:617920

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  2 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  7 phenotypes from 3 alleles in 5 genetic backgrounds
  9 phenotypes from multigenic genotypes
  3 images
  67 phenotype references
  

• All Mutations and Alleles
  17
• Endonuclease-mediated
  7
• Gene trapped
  1
• Spontaneous
  1
• Targeted
  7
• Transgenic
  1
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  43 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Homozygous mutants exhibit dispersed pigmentation of the iris, deterioration of the posterior iris epithelium and slit-like transillumination defects. The mutation contributes to glaucoma, especially in combination with the brown coat color mutation.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  39
• GO References
  9

Expression

• Assay Results
  895
• Tissues
  41
• cDNA Data
  46
• Literature Summary
  9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase gpnmb
  ZFIN gpnmb

Sequences &
Gene Models

• All Sequences
  107
• RefSeq
  4
• UniProt
  8
• CCDS
  CCDS20122.1

• Ensembl
  ENSMUSG00000029816 (Evidence)
• NCBI Gene
  93695

Representative Sequences			Length	Strain/Species
genomic	93695	NCBI Gene Model | MGI Sequence Detail	30965	C57BL/6J
transcript	NM_053110	RefSeq | MGI Sequence Detail	3798	ZRU/MplStud
polypeptide	Q99P91	UniProt | EBI | MGI Sequence Detail	574	Not Applicable

Protein
Information

• UniProt
  8 Sequences
• Protein Ontology
  PR:000008183 transmembrane glycoprotein NMB
  (term hierarchy)
• InterPro Domains
  IPR013783 Immunoglobulin-like fold
  IPR046846 PKAT, KLD domain
  IPR045219 PKD- and KLD-Associated Transmembrane
  IPR022409 PKD/Chitinase domain
  IPR000601 PKD domain
  IPR035986 PKD domain superfamily
• GlyGen
  Q99P91 11 sites, 2 N-linked glycans (2 sites)

Molecular
Reagents

• All nucleic 53

  Genomic 4

  cDNA 49

  
  

  Microarray probesets 4

Other
Accession IDs

MGI:1336203, MGI:1933809

References

• Summaries
  All 130

  Developmental Gene Expression 9

  Diseases 2

  Gene Ontology 9

  Phenotypes 67
• Earliest
  J:54013 Chang B, et al., Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet. 1999 Apr;21(4):405-9
• Latest
  J:352021 Yang Y, et al., Morphological disruption and visual tuning alterations in the primary visual cortex in glaucoma (DBA/2J) mice. Neural Regen Res. 2024 Jan;19(1):220-225

TSS for Gpnmb:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr56293	Chr6:49012921-49012937 (+)	-520 bp
Tssr56294	Chr6:49012947-49012972 (+)	-489 bp
Tssr56295	Chr6:49013002-49013016 (+)	-440 bp
Tssr56296	Chr6:49013431-49013448 (+)	-9 bp
Tssr56297	Chr6:49013461-49013474 (+)	19 bp
Tssr56298	Chr6:49013491-49013498 (+)	46 bp
Tssr56299	Chr6:49013503-49013514 (+)	60 bp
Tssr56300	Chr6:49013539-49013559 (+)	100 bp
Tssr56301	Chr6:49013573-49013592 (+)	134 bp
Tssr56302	Chr6:49013601-49013639 (+)	171 bp
Tssr56303	Chr6:49013648-49013652 (+)	201 bp
Tssr56304	Chr6:49015030-49015074 (+)	1,603 bp
Tssr56305	Chr6:49015101-49015141 (+)	1,672 bp
Tssr56306	Chr6:49015149-49015166 (+)	1,709 bp
Tssr56307	Chr6:49015268-49015282 (+)	1,826 bp
Tssr56308	Chr6:49016544-49016547 (+)	3,097 bp
Tssr56309	Chr6:49016812-49016841 (+)	3,378 bp
Tssr56310	Chr6:49017300-49017308 (+)	3,855 bp
Tssr56311	Chr6:49017605-49017618 (+)	4,163 bp
Tssr56312	Chr6:49017803-49017816 (+)	4,361 bp
Tssr56313	Chr6:49019700-49019735 (+)	6,269 bp
Tssr56314	Chr6:49019819-49019828 (+)	6,375 bp
Tssr56315	Chr6:49020317-49020324 (+)	6,872 bp
Tssr56316	Chr6:49020925-49020941 (+)	7,484 bp
Tssr56317	Chr6:49020967-49020991 (+)	7,530 bp
Tssr56318	Chr6:49020994-49021047 (+)	7,572 bp
Tssr56319	Chr6:49022242-49022251 (+)	8,798 bp
Tssr56320	Chr6:49022282-49022291 (+)	8,838 bp
Tssr56321	Chr6:49022299-49022305 (+)	8,853 bp
Tssr56322	Chr6:49022314-49022323 (+)	8,870 bp
Tssr56323	Chr6:49022343-49022359 (+)	8,902 bp
Tssr56324	Chr6:49022383-49022389 (+)	8,937 bp
Tssr56325	Chr6:49022533-49022545 (+)	9,090 bp
Tssr56326	Chr6:49022549-49022560 (+)	9,106 bp
Tssr56327	Chr6:49022603-49022614 (+)	9,160 bp
Tssr56328	Chr6:49022678-49022692 (+)	9,236 bp
Tssr56329	Chr6:49022757-49022768 (+)	9,314 bp
Tssr56330	Chr6:49022932-49022939 (+)	9,487 bp
Tssr56331	Chr6:49022973-49022984 (+)	9,530 bp
Tssr56332	Chr6:49023042-49023057 (+)	9,601 bp
Tssr56333	Chr6:49023084-49023095 (+)	9,641 bp
Tssr56334	Chr6:49023101-49023105 (+)	9,654 bp
Tssr56335	Chr6:49023111-49023125 (+)	9,669 bp
Tssr56336	Chr6:49023141-49023152 (+)	9,698 bp
Tssr56337	Chr6:49023156-49023175 (+)	9,717 bp
Tssr56338	Chr6:49023179-49023191 (+)	9,736 bp
Tssr56339	Chr6:49023192-49023205 (+)	9,750 bp
Tssr56340	Chr6:49023384-49023395 (+)	9,941 bp
Tssr56341	Chr6:49023644-49023655 (+)	10,201 bp
Tssr56342	Chr6:49023676-49023687 (+)	10,233 bp
Tssr56343	Chr6:49024226-49024233 (+)	10,781 bp
Tssr56344	Chr6:49024240-49024257 (+)	10,800 bp
Tssr56345	Chr6:49024258-49024276 (+)	10,818 bp
Tssr56346	Chr6:49024295-49024329 (+)	10,863 bp
Tssr56347	Chr6:49024333-49024347 (+)	10,891 bp
Tssr56348	Chr6:49024359-49024370 (+)	10,916 bp
Tssr56349	Chr6:49024682-49024691 (+)	11,238 bp
Tssr56350	Chr6:49024709-49024720 (+)	11,266 bp
Tssr56351	Chr6:49024739-49024747 (+)	11,294 bp
Tssr56352	Chr6:49024752-49024766 (+)	11,310 bp
Tssr56353	Chr6:49024821-49024834 (+)	11,379 bp
Tssr56354	Chr6:49024836-49024848 (+)	11,393 bp
Tssr56355	Chr6:49024861-49024872 (+)	11,418 bp
Tssr56356	Chr6:49024879-49024890 (+)	11,436 bp
Tssr56357	Chr6:49024891-49024902 (+)	11,448 bp
Tssr56358	Chr6:49024909-49024920 (+)	11,466 bp
Tssr56359	Chr6:49024924-49024951 (+)	11,489 bp
Tssr56360	Chr6:49024961-49024998 (+)	11,531 bp
Tssr56361	Chr6:49026816-49026840 (+)	13,379 bp
Tssr56362	Chr6:49027044-49027067 (+)	13,607 bp
Tssr56363	Chr6:49027331-49027403 (+)	13,918 bp
Tssr56364	Chr6:49027955-49028025 (+)	14,541 bp
Tssr56365	Chr6:49028220-49028253 (+)	14,788 bp
Tssr56366	Chr6:49028300-49028311 (+)	14,857 bp
Tssr56367	Chr6:49028783-49028790 (+)	15,338 bp
Tssr56368	Chr6:49028802-49028847 (+)	15,376 bp
Tssr56369	Chr6:49028889-49028930 (+)	15,461 bp
Tssr56370	Chr6:49029834-49029851 (+)	16,394 bp
Tssr56371	Chr6:49029859-49029882 (+)	16,422 bp
Tssr56372	Chr6:49029935-49029971 (+)	16,504 bp
Tssr56373	Chr6:49029974-49030016 (+)	16,546 bp
Tssr56374	Chr6:49032544-49032569 (+)	19,108 bp
Tssr56375	Chr6:49033174-49033189 (+)	19,733 bp
Tssr56376	Chr6:49033488-49033499 (+)	20,045 bp
Tssr56377	Chr6:49033523-49033532 (+)	20,079 bp
Tssr56378	Chr6:49033588-49033599 (+)	20,145 bp
Tssr56379	Chr6:49033657-49033670 (+)	20,215 bp
Tssr56380	Chr6:49036171-49036183 (+)	22,728 bp
Tssr56381	Chr6:49036188-49036204 (+)	22,747 bp
Tssr56382	Chr6:49036922-49036938 (+)	23,481 bp
Tssr56383	Chr6:49037159-49037170 (+)	23,716 bp
Tssr56384	Chr6:49037975-49037988 (+)	24,533 bp
Tssr56385	Chr6:49039020-49039053 (+)	25,588 bp