Gene Gene information from NCBI Gene database.
Entrez ID 55002
Gene name Solute carrier family 9 member D1
Gene symbol SLC9D1
Synonyms (NCBI Gene)
C13orf11TMCO3
Chromosome 13
Chromosome location 13q34
miRNA miRNA information provided by mirtarbase database.
138
miRTarBase ID miRNA Experiments Reference
MIRT028871 hsa-miR-26b-5p Microarray 19088304
MIRT047984 hsa-miR-30c-5p CLASH 23622248
MIRT2128340 hsa-miR-606 CLIP-seq
MIRT2350030 hsa-miR-124 CLIP-seq
MIRT2350031 hsa-miR-181a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0006811 Process Monoatomic ion transport IEA
GO:0006812 Process Monoatomic cation transport IEA
GO:0015297 Function Antiporter activity IEA
GO:0015386 Function Potassium:proton antiporter activity IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617134 20329 ENSG00000150403
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UWJ1
Protein name Transmembrane and coiled-coil domain-containing protein 3 (Putative LAG1-interacting protein)
Protein function Probable Na(+)/H(+) antiporter.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00999 Na_H_Exchanger 274 661 Sodium/hydrogen exchanger family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the cornea, lens capsule and choroid-retinal pigment epithelium (at protein level). {ECO:0000269|PubMed:27484837}.
Sequence
MKVLGRSFFWVLFPVLPWAVQAVEHEEVAQRVIKLHRGRGVAAMQSRQWVRDSCRKLSGL
LRQKNAVLNKLKTAIGAVEKDVGLSDEEKLFQVHTFEIFQKELNESENSVFQAVYGLQRA
LQGDYKDVVNMKESSRQRLEALREAAIKEETEYMELLAAEKHQVEALKNMQHQNQSLSML
DEILEDVRKAADRLEEEIEEHAFDDNKSVKGVNFEAVLRVEEEEANSKQNITKREVEDDL
GLSMLIDSQNNQYILTKPRDSTIPRADHHFIKDIVTIGMLSLPCGWLCTAIGLPTMFGYI
ICGVLLGPSGLNSIKSIVQVETLGEFGVFFTLFLVGLEFSPEKLRKVWKISLQGPCYMTL
LMIAFGLLWGHLLRIKPTQSVFISTCLSLSSTPLVSRFLMGSARGDKEGDIDYSTVLLGM
LVTQDVQLGLFMAVMPTLIQAGASASSSIVVEVLRILVLIGQILFSLAAVFLLCLVIKKY
LIGPYYRKLHMESKGNKEILILGISAFIFLMLTVTELLDVSMELGCFLAGALVSSQGPVV
TEEIATSIEPIRDFLAIVFFASIGLHVFPTFVAYELTVLVFLTLSVVVMKFLLAALVLSL
ILPRSSQYIKWIVSAGLAQVSEFSFVLGSRARRAGVISREVYLLILSVTTLSLLLAPVLW
R
AAITRCVPRPERRSSL
Sequence length 677
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FUCHS' ENDOTHELIAL DYSTROPHY GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
CATARACT, ANTERIOR POLAR Cataract BEFREE 27484837
★☆☆☆☆
Found in Text Mining only
Corneal guttata Corneal guttata BEFREE 27484837
★☆☆☆☆
Found in Text Mining only
Corneal Injuries Corneal injury Pubtator 27484837 Associate
★☆☆☆☆
Found in Text Mining only