1. Gene
  2. SLC35D2 - solute carrier family 35 member D2 Gene

SLC35D2 - solute carrier family 35 member D2 Gene

中文名称:溶质载体家族 35 成员 D2

种属: Homo sapiens

同用名: hfrc; HFRC1; SQV7L; UGTrel8

基因 ID: 11046 | 基因类型: protein coding

关于 SLC35D2

Cytogenetic location: 9q22.32 Genomic coordinates (GRCh38): 9:96,313,444-96,383,711 (from NCBI)

This gene has 6 transcripts (splice variants), 196 orthologues and 9 paralogues. Ubiquitous expression in small intestine (RPKM 17.7), duodenum (RPKM 17.4) and 25 other tissues.

功能概要

在胞质溶胶或细胞核中合成的核苷酸糖是位于内质网和高尔基体腔内的糖基转移酶的高能供体底物。核苷酸糖从胞质溶胶转移到腔室是由特定的核苷酸糖转运蛋白介导的,例如 SLC35D2 (Suda 等人,2004 [PubMed 15082721]) 。[OMIM 提供,2008 年 3 月]

Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]

SLC35D2 基因产物(2)

mRNA Protein Name
NM_001286990.2 NP_001273919.1 UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform b
NM_007001.3 NP_008932.2 UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform a

SLC35D2 蛋白结构

TPT

TPT: Triose-phosphate Transporter family (175 - 313)

  • 0
  • 100
  • 200
  • 300
  • 337 a.a.
蛋白主名 其他名称

UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter

SQV7-like protein

关联疾病

疾病名称 别名
Dicarboxylic Aminoaciduria

Glutamate-Aspartate Transport Defect

Dicarboxylicaminoaciduria

DCBXA

Renal Aminoacidurias

Thiamine-Responsive Megaloblastic Anemia Syndrome

TRMA

Rogers Syndrome

Thiamine-Responsive Myelodysplasia

Thiamine-Responsive Anemia Syndrome

Thiamine Metabolism Dysfunction Syndrome 1

Thmd1

Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness

Thiamine Responsive Megaloblastic Anemia Syndrome

Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia

Thiamine-Responsive Anaemia Syndrome

Thiamine-Responsive Megaloblastic Anaemia Syndrome

Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss

Hydranencephaly

Hydroanencephaly

Atrial Septal Defect 1

ASD1

Atrial Heart Septal Defect 1

Asd

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Felis catus SLC35D2 VGNC VGNC:102983
Macaca mulatta SLC35D2 VGNC VGNC:77534
Canis familiaris SLC35D2 VGNC VGNC:46371
Bos taurus SLC35D2 VGNC VGNC:52827
Rattus norvegicus SLC35D2 RGD RGD:1309518
Mus musculus SLC35D2 MGD MGI:1917734