Details for: SLC35A2

Gene ID: 7355

Symbol: SLC35A2

Ensembl ID: ENSG00000102100

Description: solute carrier family 35 member A2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 73.6763
    Cell Significance Index: -11.4600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 48.8481
    Cell Significance Index: -12.3900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 32.1103
    Cell Significance Index: -15.1600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 22.6073
    Cell Significance Index: -15.1700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.8195
    Cell Significance Index: -13.3400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.1067
    Cell Significance Index: -13.6800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.5048
    Cell Significance Index: -13.8300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0706
    Cell Significance Index: 966.6900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.0600
    Cell Significance Index: -2.3200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9371
    Cell Significance Index: 101.9300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7342
    Cell Significance Index: 119.4100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6245
    Cell Significance Index: 8.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6149
    Cell Significance Index: 31.9400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5072
    Cell Significance Index: 35.0800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4761
    Cell Significance Index: 22.2000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3783
    Cell Significance Index: 206.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3356
    Cell Significance Index: 9.1400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.2958
    Cell Significance Index: 3.3600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2722
    Cell Significance Index: 12.8000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2438
    Cell Significance Index: 11.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2348
    Cell Significance Index: 42.3200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2334
    Cell Significance Index: 23.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2262
    Cell Significance Index: 4.9000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2105
    Cell Significance Index: 6.0700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1896
    Cell Significance Index: 26.0400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1878
    Cell Significance Index: 3.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1711
    Cell Significance Index: 12.7600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1581
    Cell Significance Index: 69.9000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1567
    Cell Significance Index: 11.0800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1498
    Cell Significance Index: 18.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1261
    Cell Significance Index: 25.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1192
    Cell Significance Index: 7.6900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1138
    Cell Significance Index: 14.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0994
    Cell Significance Index: 19.9400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0971
    Cell Significance Index: 16.5900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0966
    Cell Significance Index: 1.0000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0850
    Cell Significance Index: 16.1700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0769
    Cell Significance Index: 9.9400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0768
    Cell Significance Index: 1.1000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0490
    Cell Significance Index: 33.8800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0408
    Cell Significance Index: 1.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0325
    Cell Significance Index: 2.0500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0220
    Cell Significance Index: 0.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0139
    Cell Significance Index: 5.0000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.0137
    Cell Significance Index: 0.3500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0135
    Cell Significance Index: 0.6800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0088
    Cell Significance Index: 0.3100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0086
    Cell Significance Index: 1.0200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0034
    Cell Significance Index: 0.1100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0033
    Cell Significance Index: 2.5100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0016
    Cell Significance Index: 0.1800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0011
    Cell Significance Index: 0.0300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0038
    Cell Significance Index: -2.8100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0050
    Cell Significance Index: -9.4900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0057
    Cell Significance Index: -3.5900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0076
    Cell Significance Index: -0.2000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0079
    Cell Significance Index: -5.8100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0083
    Cell Significance Index: -15.3100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0101
    Cell Significance Index: -15.5200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0103
    Cell Significance Index: -0.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0116
    Cell Significance Index: -15.7400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0117
    Cell Significance Index: -1.2000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0166
    Cell Significance Index: -10.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0166
    Cell Significance Index: -9.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0194
    Cell Significance Index: -2.2200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0230
    Cell Significance Index: -0.8000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0286
    Cell Significance Index: -12.9800
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0307
    Cell Significance Index: -0.2000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0351
    Cell Significance Index: -7.4000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0444
    Cell Significance Index: -1.8200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0498
    Cell Significance Index: -14.3300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0576
    Cell Significance Index: -0.3900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0661
    Cell Significance Index: -9.6100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0789
    Cell Significance Index: -9.1900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1338
    Cell Significance Index: -13.9300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1464
    Cell Significance Index: -2.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1609
    Cell Significance Index: -12.3500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1643
    Cell Significance Index: -4.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1660
    Cell Significance Index: -13.1500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1708
    Cell Significance Index: -8.9700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1713
    Cell Significance Index: -5.0300
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1755
    Cell Significance Index: -1.6700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1801
    Cell Significance Index: -11.0400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1939
    Cell Significance Index: -10.8800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2083
    Cell Significance Index: -10.8500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2195
    Cell Significance Index: -1.7900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2221
    Cell Significance Index: -2.4200
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.2307
    Cell Significance Index: -0.5200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2478
    Cell Significance Index: -8.6800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2488
    Cell Significance Index: -6.2200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2514
    Cell Significance Index: -2.3200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2572
    Cell Significance Index: -9.4400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2670
    Cell Significance Index: -11.8100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2679
    Cell Significance Index: -7.8900
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.2688
    Cell Significance Index: -1.6700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2731
    Cell Significance Index: -6.3100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2943
    Cell Significance Index: -5.2000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2944
    Cell Significance Index: -9.6400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2955
    Cell Significance Index: -6.1300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.3031
    Cell Significance Index: -2.4200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SLC35A2 is a transmembrane protein that exhibits antiporter activity, facilitating the transport of UDP-galactose across the endoplasmic reticulum membrane. The gene is highly expressed in various cell types, including extravillous trophoblasts, germ cells, and intestinal epithelial cells. SLC35A2 is also involved in the transport of other small molecules, such as vitamins, nucleosides, and related molecules. **Pathways and Functions:** The primary function of SLC35A2 is to regulate the transport of nucleotide sugars, specifically UDP-galactose, across the endoplasmic reticulum membrane. This process is critical for the proper glycosylation of proteins, lipids, and carbohydrates. The gene is also involved in the transport of other small molecules, including vitamins and nucleosides, which are essential for various cellular processes. SLC35A2 is part of the solute carrier family 35, a group of transporters that play a crucial role in maintaining cellular homeostasis. The gene is also linked to several signaling pathways, including the PI3K/AKT and MAPK/ERK pathways, which regulate cell growth, differentiation, and survival. **Clinical Significance:** Mutations in SLC35A2 have been identified as a cause of Congenital Disorder of Glycosylation 2M (CDG2M), a severe and debilitating condition affecting the glycosylation process. CDG2M is characterized by impaired glycosylation of proteins, lipids, and carbohydrates, leading to a range of clinical symptoms, including developmental delays, seizures, and cardiac abnormalities. The identification of SLC35A2 as a causative gene for CDG2M highlights the importance of this gene in maintaining proper glycosylation processes. Research into SLC35A2 and its role in CDG2M may lead to the development of novel therapeutic strategies for this condition, as well as provide insights into the underlying mechanisms of glycosylation and cellular transport processes. **Implications for Disease Research:** The study of SLC35A2 and its role in CDG2M has significant implications for disease research, particularly in the areas of glycosylation and cellular transport. The identification of this gene as a causative factor for a severe and debilitating condition highlights the importance of understanding the complex mechanisms underlying glycosylation and cellular transport processes. Future research should focus on the characterization of SLC35A2 and its role in CDG2M, as well as the development of novel therapeutic strategies for this condition. Additionally, the study of SLC35A2 may provide insights into the underlying mechanisms of other glycosylation-related disorders, highlighting the importance of this gene in maintaining proper cellular function. **Conclusion:** In conclusion, SLC35A2 is a critical gene involved in the transport of nucleotide sugars and small molecules across cellular membranes. Mutations in this gene have been linked to Congenital Disorder of Glycosylation 2M (CDG2M), a severe and debilitating condition affecting the glycosylation process. Further research into SLC35A2 and its role in CDG2M is essential for understanding the underlying mechanisms of glycosylation and cellular transport processes, as well as developing novel therapeutic strategies for this condition.

Genular Protein ID: 1375711215

Symbol: S35A2_HUMAN

Name: UDP-galactose transporter

UniProtKB Accession Codes:

P78381 A8K2L9 A8K9V1 B4DE11 B4DPT2 E7EW45 Q8IV21 Q92553

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 5 CORUM 1 CTD 1 ChEBI 22 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 12 Ensembl 12 ExpressionAtlas 1 GO 9 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 2 RefSeq 8 Rhea 11 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8889805

Title: Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator.

PubMed ID: 8889805

DOI: 10.1093/oxfordjournals.jbchem.a021404

PubMed ID: 9010752

Title: Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family.

PubMed ID: 9010752

DOI: 10.1093/oxfordjournals.jbchem.a021523

PubMed ID: 8128316

Title: The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus.

PubMed ID: 8128316

DOI: 10.1007/bf01233383

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11784306

Title: Human and Drosophila UDP-galactose transporters transport UDP-N-acetylgalactosamine in addition to UDP-galactose.

PubMed ID: 11784306

DOI: 10.1046/j.0014-2956.2001.02632.x

PubMed ID: 12682060

Title: Substrate recognition by nucleotide sugar transporters: further characterization of substrate recognition regions by analyses of UDP-galactose/CMP-sialic acid transporter chimeras and biochemical analysis of the substrate specificity of parental and chimeric transporters.

PubMed ID: 12682060

DOI: 10.1074/jbc.m302620200

PubMed ID: 15932921

Title: Endoplasmic reticulum retention of the large splice variant of the UDP-galactose transporter is caused by a dilysine motif.

PubMed ID: 15932921

DOI: 10.1093/glycob/cwi085

PubMed ID: 23089177

Title: UDP-N-acetylglucosamine transporter and UDP-galactose transporter form heterologous complexes in the Golgi membrane.

PubMed ID: 23089177

DOI: 10.1016/j.febslet.2012.10.016

PubMed ID: 32827291

Title: N-glycosylation of the human beta1,4-galactosyltransferase 4 is crucial for its activity and Golgi localization.

PubMed ID: 32827291

DOI: 10.1007/s10719-020-09941-z

PubMed ID: 28167211

Title: An insight into the orphan nucleotide sugar transporter SLC35A4.

PubMed ID: 28167211

DOI: 10.1016/j.bbamcr.2017.02.002

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 23561849

Title: Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

PubMed ID: 23561849

DOI: 10.1016/j.ajhg.2013.03.012

PubMed ID: 24115232

Title: De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.

PubMed ID: 24115232

DOI: 10.1002/humu.22446

PubMed ID: 25877686

Title: Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

PubMed ID: 25877686

DOI: 10.1007/s00439-015-1553-6

PubMed ID: 25778940

Title: A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

PubMed ID: 25778940

DOI: 10.1007/s10545-015-9828-6

PubMed ID: 26350515

Title: Novel genetic causes for cerebral visual impairment.

PubMed ID: 26350515

DOI: 10.1038/ejhg.2015.186

PubMed ID: 26740508

Title: Identification of novel genetic causes of Rett syndrome-like phenotypes.

PubMed ID: 26740508

DOI: 10.1136/jmedgenet-2015-103568

PubMed ID: 29679388

Title: Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

PubMed ID: 29679388

DOI: 10.1002/ana.25243

PubMed ID: 30834435

Title: Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel activity assay.

PubMed ID: 30834435

DOI: 10.1093/glycob/cwz016

PubMed ID: 30817854

Title: SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals.

PubMed ID: 30817854

DOI: 10.1002/humu.23731

PubMed ID: 34384782

Title: A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2.

PubMed ID: 34384782

DOI: 10.1016/j.jbc.2021.101069

PubMed ID: 37069668

Title: Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.

PubMed ID: 37069668

DOI: 10.1186/s13104-023-06314-1

Sequence Information:

  • Length: 396
  • Mass: 41307
  • Checksum: 6EC1DC9532FE9221
  • Sequence:
    • MAAVGAGGST AAPGPGAVSA GALEPGTASA AHRRLKYISL AVLVVQNASL ILSIRYARTL 
PGDRFFATTA VVMAEVLKGL TCLLLLFAQK RGNVKHLVLF LHEAVLVQYV DTLKLAVPSL 
IYTLQNNLQY VAISNLPAAT FQVTYQLKIL TTALFSVLML NRSLSRLQWA SLLLLFTGVA 
IVQAQQAGGG GPRPLDQNPG AGLAAVVASC LSSGFAGVYF EKILKGSSGS VWLRNLQLGL 
FGTALGLVGL WWAEGTAVAT RGFFFGYTPA VWGVVLNQAF GGLLVAVVVK YADNILKGFA 
TSLSIVLSTV ASIRLFGFHV DPLFALGAGL VIGAVYLYSL PRGAAKAIAS ASASASGPCV 
HQQPPGQPPP PQLSSHRGDL ITEPFLPKLL TKVKGS

Genular Protein ID: 1749716961

Symbol: A6NFI1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A6NFI1

Database IDs:

ARBA 8 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 3 GO 3 GeneTree 1 HGNC 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

Sequence Information:

  • Length: 224
  • Mass: 23356
  • Checksum: 217AF7BF633427D5
  • Sequence:
    • MAAVGAGGST AAPGPGAVSA GALEPGTASA AHRRLKYISL AVLVVQNASL ILSIRYARTL 
PGDRFFATTA VVMAEVLKGL TCLLLLFAQK RGNVKHLVLF LHEAVLVQYV DTLKLAVPSL 
IYTLQNNLQY VAISNLPAAT FQPSPRCSQS HSLCLCLRLR ALRSPAASRA ATTTAAVFPP 
WRPHHGALSA KVAHQGEGFL AAGIEDIGLA SFSLLALGPA GTKL

Genular Protein ID: 1025553558

Symbol: A6NKM8_HUMAN

Name: N/A

UniProtKB Accession Codes:

A6NKM8

Database IDs:

ARBA 8 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 3 GO 3 GeneTree 1 HGNC 1 IntAct 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

Sequence Information:

  • Length: 218
  • Mass: 23494
  • Checksum: E2112F3131CF956A
  • Sequence:
    • MKLCRDAHRR LKYISLAVLV VQNASLILSI RYARTLPGDR FFATTAVVMA EVLKGLTCLL 
LLFAQKRGNV KHLVLFLHEA VLVQYVDTLK LAVPSLIYTL QNNLQYVAIS NLPAATFQPS 
PRCSQSHSLC LCLRLRALRS PAASRAATTT AAVFPPWRPH HGALSAKVSA GEVRAGSNGG 
TQGRGTGVEG VGHLQDPSRH PPGPGSSGFG RWSFLPGH

Genular Protein ID: 2616909735

Symbol: B4DE15_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DE15

Database IDs:

ARBA 8 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 3 GO 5 GeneTree 1 HGNC 1 InterPro 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 2 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

Sequence Information:

  • Length: 406
  • Mass: 42226
  • Checksum: 00CD2293C9A8455A
  • Sequence:
    • MAAVGAGGST AAPGPGAVSA GALEPGTASA GETVCPSSRM GGGAHRRLKY ISLAVLVVQN 
ASLILSIRYA RTLPGDRFFA TTAVVMAEVL KGLTCLLLLF AQKRGNVKHL VLFLHEAVLV 
QYVDTLKLAV PSLIYTLQNN LQYVAISNLP AATFQVTYQL KILTTALFSV LMLNRSLSRL 
QWASLLLLFT GVAIVQAQQA GGGGPRPLDQ NPGAGLAAVV ASCLSSGFAG VYFEKILKGS 
SGSVWLRNLQ LGLFGTALGL VGLWWAEGTA VATRGFFFGY TPAVWGVVLN QAFGGLLVAV 
VVKYADNILK GFATSLSIVL STVASIRLFG FHVDPLFALG AGLVIGAVYL YSLPRGAAKA 
IASASASASG PCVHQQPPGQ PPPPQLSSHR GDLITEPFLP KSVLVK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.