SLCtables

SLC44A4

Protein name: CTL4 Aliases: NG22, FLJ14491 Substrates: N/D Transport type: Orphan transporter Tissue and cellular expression: intestine, stomach, kidney Subcellular expression: N/D Disease: N/D Locus: 6p21.3 Sequence ID: NP_001171515.1, NM_001178044.1 NP_001171516.1, NM_001178045.1 NP_079533.2, NM_025257.2 Gene ID: 80736 Splice variants: 3 splice variants

CTL4_HUMAN (UniProt)

Gene names: SLC44A4, C6orf29, CTL4, NG22, UNQ441/PRO874
Protein names and data: CTL4_HUMAN, Full=Choline transporter-like protein 4, Full=Solute carrier family 44 member 4; Length: 710 a.a., Mass: 79254 Da,
fasta formatted sequence
Disease: (OMIM: 606107) Note=An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3'-UTR of NEU has been detected in two patients affected by sialidosis
Cellular location: Membrane; Multi-pass membrane protein (By similarity)

Database cross-references

UniProt: Q53GD3
NextBio: 71058
OMIM: 606107
Ensembl: ENST00000453831
GeneCard: GC06M031863
PharmGenUCSF: SLC44A4
Guide to Pharmacology: SLC44A4 (1207)
SLC44 choline transporter-like family (1207)
HGNC: HGNC:13941

Genetic variants

See also Ensembl:ENST00000453831

6 - 6 R -> L (in dbSNP:rs2075798). VAR_023406 2075798
123 - 123 D -> V (in dbSNP:rs12661281). VAR_047020 12661281
128 - 128 G -> E (in dbSNP:rs17856465). VAR_047021 17856465
187 - 187 V -> I (in dbSNP:rs2242665). VAR_023407 2242665
326 - 326 M -> V (in dbSNP:rs644827). VAR_023408 644827
347 - 347 A -> T (in a colorectal cancer sample; somatic mutation). VAR_036210
411 - 411 T -> M (in a colorectal cancer sample; somatic mutation). VAR_036211
493 - 493 R -> C (in dbSNP:rs6915800). VAR_023409 6915800