ENSG00000102100


Homo sapiens

Features
Gene ID: ENSG00000102100
  
Biological name :SLC35A2
  
Synonyms : P78381 / SLC35A2 / solute carrier family 35 member A2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p11.23
Gene start: 48903180
Gene end: 48911958
  
Corresponding Affymetrix probe sets: 207439_s_at (Human Genome U133 Plus 2.0 Array)   207440_at (Human Genome U133 Plus 2.0 Array)   209326_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000489356
Ensembl peptide - ENSP00000365712
Ensembl peptide - ENSP00000393233
Ensembl peptide - ENSP00000402726
Ensembl peptide - ENSP00000415518
Ensembl peptide - ENSP00000416002
Ensembl peptide - ENSP00000478617
Ensembl peptide - ENSP00000489089
Ensembl peptide - ENSP00000489197
Ensembl peptide - ENSP00000489339
Ensembl peptide - ENSP00000489440
Ensembl peptide - ENSP00000489613
Ensembl peptide - ENSP00000489515
Ensembl peptide - ENSP00000489484
Ensembl peptide - ENSP00000247138
Ensembl peptide - ENSP00000365695
Ensembl peptide - ENSP00000365698
Ensembl peptide - ENSP00000365704
NCBI entrez gene - 7355     See in Manteia.
OMIM - 314375
RefSeq - NM_005660
RefSeq - NM_001282651
RefSeq - NM_001282650
RefSeq - NM_001282649
RefSeq - NM_001282648
RefSeq - NM_001282647
RefSeq - NM_001042498
RefSeq - NM_001032289
RefSeq Peptide - NP_001269576
RefSeq Peptide - NP_001027460
RefSeq Peptide - NP_001035963
RefSeq Peptide - NP_001269577
RefSeq Peptide - NP_001269578
RefSeq Peptide - NP_001269579
RefSeq Peptide - NP_001269580
RefSeq Peptide - NP_005651
swissprot - A0A0U1RRN1
swissprot - A0A0U1RRG4
swissprot - A0A0U1RRB4
swissprot - A0A0U1RR61
swissprot - A0A0U1RR48
swissprot - P78381
swissprot - C9JCV5
swissprot - B4DSH7
swissprot - B4DE15
swissprot - A6NKM8
swissprot - A6NGW4
swissprot - A6NFI1
swissprot - A0A0X1KG77
Ensembl - ENSG00000102100
  
Related genetic diseases (OMIM): 300896 - Congenital disorder of glycosylation, type IIm, 300896
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc35a2ENSDARG00000058990Danio rerio
 Q9R0M8ENSMUSG00000031156Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Y2D2 / SLC35A3 / solute carrier family 35 member A3ENSG0000011762040
P78382 / SLC35A1 / solute carrier family 35 member A1ENSG0000016441435
Q9BS91 / SLC35A5 / solute carrier family 35 member A5ENSG0000013845922
L0R6Q1 / Q96G79 / SLC35A4 / solute carrier family 35 member A4ENSG0000017608720


Protein motifs (from Interpro)
Interpro ID Name
 IPR007271  Nucleotide-sugar transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006012 galactose metabolic process TAS
 biological_processGO:0008643 carbohydrate transport IEA
 biological_processGO:0072334 UDP-galactose transmembrane transport TAS
 biological_processGO:0090481 pyrimidine nucleotide-sugar transmembrane transport IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005351 carbohydrate:proton symporter activity IEA
 molecular_functionGO:0005459 UDP-galactose transmembrane transporter activity TAS
 molecular_functionGO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)
Transport of nucleotide sugars


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000194 Open mouth 
Show

 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
Show

 HP:0000280 Coarse facial features 
Show

 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
Show

 HP:0000510 Retinitis pigmentosa "Hereditary degeneration and atrophy of the retina." [HPO:curators]
Show

 HP:0000574 Thick eyebrows 
Show

 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show

 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show

 HP:0001321 Cerebellar hypoplasia 
Show

 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
Show

 HP:0001442 Somatic mosaicism 
Show

 HP:0002020 Gastroesophageal reflux 
Show

 HP:0002059 Cerebral atrophy 
Show

 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
Show

 HP:0002521 Hypsarrhythmia "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
Show

 HP:0002719 Recurrent infections 
Show

 HP:0003593 Early onset 
Show

 HP:0012448 Delayed myelination "`Delayed` (PATO:0000502) `myelination` (GO:0042552)." [ORCID:0000-0001-5208-3432]
Show

 HP:0012471 Thick vermilion border "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson]
Show

 HP:0200134 Epileptic encephalopathy 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr