1. Gene
  2. TRAPPC2L - trafficking protein particle complex subunit 2L Gene

TRAPPC2L - trafficking protein particle complex subunit 2L Gene

Homo sapiens

Also known as PERRB; HSPC176

Gene ID: 51693 | Gene type: protein coding

About TRAPPC2L

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:88,856,220-88,862,678 (from NCBI)

This gene has 16 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 16.3), testis (RPKM 13.9) and 25 other tissues.

Summary

This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

TRAPPC2L Products(9)

mRNA Protein Name
NM_001318524.2 NP_001305453.1 trafficking protein particle complex subunit 2-like protein isoform 1
NM_001318525.2 NP_001305454.1 trafficking protein particle complex subunit 2-like protein isoform 3
NM_001318526.2 NP_001305455.1 trafficking protein particle complex subunit 2-like protein isoform 4
NM_001318527.2 NP_001305456.1 trafficking protein particle complex subunit 2-like protein isoform 5
NM_001318528.2 NP_001305457.1 trafficking protein particle complex subunit 2-like protein isoform 6
NM_001318529.2 NP_001305458.1 trafficking protein particle complex subunit 2-like protein isoform 7
NM_001318530.2 NP_001305459.1 trafficking protein particle complex subunit 2-like protein isoform 8
NM_001318532.2 NP_001305461.1 trafficking protein particle complex subunit 2-like protein isoform 9
NM_016209.5 NP_057293.1 trafficking protein particle complex subunit 2-like protein isoform 2

TRAPPC2L Protein Structure

Sedlin_N

Sedlin_N: Sedlin, N-terminal conserved region (7 - 136)

  • 0
  • 100
  • 140 a.a.
Protein Preferred Names Protein Names

trafficking protein particle complex subunit 2-like protein

hematopoietic stem/progenitor cells 176

Related Diseases

Diseases Alias
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis

PEERB

Mucopolysaccharidosis, Type Iva

Mps Iva

Galns Deficiency

MPS4A

Morquio A Disease

Galactosamine-6-Sulfatase Deficiency

Morquio Syndrome A

Mucopolysaccharidosis Iva

Mucopolysaccharidosis Type Iva

Mpsiva

Morquio Disease Type A

Mucopolysaccharidosis Type 4a

N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency

Morquio Syndrome Type A

Mps 4a

Morquio Disease, Type A

Mucopolysaccharidosis 4a

Morquio'S Syndrome A

Mps Iv A

Mucopolysaccharidosis Iv

Mucopolysaccharidosis, Mps-Iv-A

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia Tarda

SEDT

Sed Tarda, X-Linked

Spondyloepiphyseal Dysplasia, Late

Spondyloepiphyseal Dysplasia Tarda X-Linked

Sed

X Linked Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia

Late Onset Spondyloepiphyseal Dysplasia

Sed Tarda

X-Linked Sed

X-Linked Sedt

Dysplasia, Spondyloepiphyseal, Tarda

Spondyloepiphyseal Dysplasia

Neu-Laxova Syndrome 2

NLS2

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

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
Rattus norvegicus TRAPPC2L RGD RGD:1304906
Bos taurus TRAPPC2L VGNC VGNC:36287
Mus musculus TRAPPC2L MGD MGI:1916295
Canis familiaris TRAPPC2L VGNC VGNC:47780