1. Gene
  2. GPM6B - glycoprotein M6B Gene

GPM6B - glycoprotein M6B Gene

Homo sapiens

Also known as M6B

Gene ID: 2824 | Gene type: protein coding

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