Gene Gene information from NCBI Gene database.
Entrez ID 55020
Gene name Tetratricopeptide repeat domain 38
Gene symbol TTC38
Synonyms (NCBI Gene)
LL22NC03-5H6.5
Chromosome 22
Chromosome location 22q13.31
miRNA miRNA information provided by mirtarbase database.
500
miRTarBase ID miRNA Experiments Reference
MIRT048709 hsa-miR-99a-5p CLASH 23622248
MIRT691990 hsa-miR-590-3p HITS-CLIP 23313552
MIRT679871 hsa-miR-4438 HITS-CLIP 23313552
MIRT679870 hsa-miR-6872-3p HITS-CLIP 23313552
MIRT691989 hsa-miR-4735-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 33961781
GO:0070062 Component Extracellular exosome HDA 23533145
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5R3I4
Protein name Tetratricopeptide repeat protein 38 (TPR repeat protein 38)
Family and domains
Sequence
MAAASPLRDCQAWKDARLPLSTTSNEACKLFDATLTQYVKWTNDKSLGGIEGCLSKLKAA
DPTFVMGHAMATGLVLIGTGSSVKLDKELDLAVKTMVEISRTQPLTRREQLHVSAVETFA
NGNFPKACELWEQILQDHPTDMLALKFSHDAYFYLGYQEQMRDSVARIYPFWTPDIPLSS
YVKGIYSFGLMETNFYDQAEKLAKEALSINPTDAWSVHTVAHIHEMKAEIKDGLEFMQHS
ETFWKDSDMLACHNYWHWALYLIEKGEYEAALTIYDTHILPSLQANDAMLDVVDSCSMLY
RLQMEGVSVGQRWQDVLPVARKHSRDHILLFNDAHFLMASLGAHDPQTTQELLTTLRDAS
ESPGENCQHLLARDVGLPLCQALVEAEDGNPDRVLELLLPIRYRIVQLGGSNAQRDVFNQ
LLIHAALNCTSSVHKNVARSLLMERDALKPNSPLTERLIRKAATVHLMQ
Sequence length 469
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
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
Leukemia Myeloid Acute Myeloid leukemia Pubtator 38163849 Associate
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis BEFREE 28371410
★☆☆☆☆
Found in Text Mining only