GPM6B - glycoprotein M6B Gene

Also Known as M6B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2824

About GPM6B

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:13,770,939-13,938,638 (from NCBI)

This gene has 11 transcripts (splice variants), 287 orthologues and 2 paralogues. Biased expression in brain (RPKM 225.8) and prostate (RPKM 7.6).

Summary

This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]

GPM6B Products (5)

mRNA Protein Name
NM_001001994.3 NP_001001994.1 neuronal membrane glycoprotein M6-b isoform 4
NM_001001995.3 NP_001001995.1 neuronal membrane glycoprotein M6-b isoform 1
NM_001001996.3 NP_001001996.1 neuronal membrane glycoprotein M6-b isoform 2
NM_001318729.2 NP_001305658.1 neuronal membrane glycoprotein M6-b isoform 5
NM_005278.5 NP_005269.1 neuronal membrane glycoprotein M6-b isoform 3

GPM6B Protein Structure

Myelin_PLP

Myelin_PLP: Myelin proteolipid protein (PLP or lipophilin) (21 - 265)

  • 0
  • 100
  • 200
  • 265 a.a.
Protein Preferred Names Protein Names

neuronal membrane glycoprotein M6-b

  • protolipid M6B

Related Diseases

Diseases Alias
Subleukemic Leukemia
  • Aleukemic Leukemia Cutis

  • Leukemia Subleukemic

Acute Erythroid Leukemia
  • Acute Erythroleukemia

  • Di Guglielmo'S Syndrome

  • Aml M6

  • Acute Myeloid Leukemia Fab-M6

  • Acute Myeloid Leukemia M6

  • Erythroleukemia

  • Aml-M6

  • Acute Erythroleukemia M6a Subtype

  • Acute Erythroleukemia M6b Subtype

  • Di Guglielmo Syndrome

  • Acute Myeloid Leukemia, M6 Type

  • Acute Erythroblastic Leukemia

  • Acute Erythroleukemia - M6a Subtype

  • Acute Erythroleukemia - M6b Subtype

  • Acute Erythraemia And Erythroleukaemia

  • Acute Erythroid Leukaemia Without Mention Of Remission

  • Erythraemia

  • Erythraemic Myelosis

  • Erythroleukaemia

  • Acute Erythraemic Myelosis

  • Acute Erythraemia

Non-Syndromic X-Linked Intellectual Disability 1
  • Mrx1

  • Mrx18

  • Mrx78

  • X-Linked Mental Retardation 1/78

  • X-Linked Mental Retardation 18

Pelizaeus-Merzbacher Disease
  • PMD

  • HLD1

  • Pelizaeus-Merzbacher Brain Sclerosis

  • Leukodystrophy, Hypomyelinating, 1

  • Diffuse Familial Brain Sclerosis

  • Pelizaeus Merzbacher Brain Sclerosis

  • Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

  • Cockayne-Pelizaeus-Merzbacher Disease

  • Hypomyelinating Leukodystrophy 1

  • Leukodystrophy, Sudanophilic

  • Pelizaeus Merzbacher Disease

  • Hypomyelinating Leukodystrophy, 1

  • Sudanophilic Leukodystrophy

  • Pelizaeus-Merzbacher Disease, Connatal Form

  • Connatal Pmd

  • Pelizaeus-Merzbacher Disease Type Ii

  • Severe Pmd

  • Null Syndrome

  • Plp1 Null Syndrome

  • Pelizaeus-Merzbacher Disease, Null Syndrome

  • Brain Sclerosis Diffuse Familial

  • Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

  • Leukodystrophy Hypomyelinating 1

  • Diffuse Cerebral Sclerosis Of Schilder

Rett Syndrome
  • Atypical Rett Syndrome

  • RTT

  • Rett Disorder

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Preserved Speech Variant

  • Rett Syndrome, Atypical

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant

Hypomyelinating Leukodystrophy
  • Hld

  • Leukodystrophy, Hypomyelinating

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus GPM6B MGD MGI:107672
Bos taurus GPM6B VGNC VGNC:29537
Canis familiaris GPM6B VGNC VGNC:41386
Felis catus GPM6B VGNC VGNC:67412
Rattus norvegicus GPM6B RGD RGD:620580
Macaca mulatta GPM6B VGNC VGNC:73122