RBCC Red Blood Cell Collection

TPC2A_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: TRAPPC2 , SEDL
Protein names and data: TPC2A_HUMAN , Trafficking protein particle complex subunit 2 , Sedlin Lenght: 140 a.a.
Mass: 16445 Da
fasta formatted sequence
Function: Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi.
Disease: ( OMIM: 300202 313400 ) Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]: X-linked recessive disorder of endochondral bone formation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, perinuclear region. Endoplasmic reticulum. Golgi apparatus. Nucleus. Note=Localized in perinuclear granular structures.
Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes.

Genetic variants

47 - 47 D -> Y (in SEDT; probable loss of function). VAR_012358
73 - 73 S -> L (in SEDT; loss of interaction with ENO1, PITX1 and SF1). VAR_012359
83 - 83 F -> S (in SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1). VAR_012361
130 - 130 V -> D (in SEDT; loss of interaction with ENO1, PITX1 and SF1). VAR_012360

Database cross-references

UniProt: P0DI81
Ensembl: ENST00000358231
Ensembl: ENST00000359680
Ensembl: ENST00000380579
Ensembl: ENST00000458511
MIM: 300202
MIM: 313400
neXtProt: NX_P0DI81
Antibodypedia: P0DI81 (may not find the protein thus also not any antibody)
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