Gene Gene information from NCBI Gene database.
Entrez ID 23331
Gene name Tetratricopeptide repeat domain 28
Gene symbol TTC28
Synonyms (NCBI Gene)
TPRBK
Chromosome 22
Chromosome location 22q12.1
miRNA miRNA information provided by mirtarbase database.
475
miRTarBase ID miRNA Experiments Reference
MIRT047205 hsa-miR-182-5p CLASH 23622248
MIRT043918 hsa-miR-378a-3p CLASH 23622248
MIRT672876 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT672875 hsa-miR-6771-3p HITS-CLIP 23824327
MIRT672874 hsa-miR-3675-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005819 Component Spindle IEA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615098 29179 ENSG00000100154
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96AY4
Protein name Tetratricopeptide repeat protein 28 (TPR repeat protein 28) (TPR repeat-containing big gene cloned at Keio)
Protein function During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13176 TPR_7 276 311 Tetratricopeptide repeat Repeat
PF13424 TPR_12 311 386 Repeat
PF13424 TPR_12 351 426 Repeat
PF13424 TPR_12 472 546 Repeat
PF13424 TPR_12 552 626 Repeat
PF13424 TPR_12 636 706 Repeat
PF13424 TPR_12 713 786 Repeat
PF13424 TPR_12 832 909 Repeat
PF13424 TPR_12 915 989 Repeat
PF13424 TPR_12 995 1069 Repeat
PF13424 TPR_12 1075 1149 Repeat
PF12770 CHAT 1390 1713 CHAT domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in fetal tissues. In adult tissues, expressed in testis and ovary and, at much lower levels, in kidney and pancreas. {ECO:0000269|PubMed:23036704}.
Sequence
MEQSPPPAPEPTQGPTPARSRRRREPESPPASAPIPLFGADTIGQRSPDGPVLSKAEFVE
KVRQSNQACHDGDFHTAIVLYNEALAVDPQNCILYSNRSAAYMKIQQYDKALDDAIKARL
LNPKWPKAYFRQGVALQYLGRHADALAAFASGLAQDPKSLQLLVGMVEAAMKSPMRDSLE
PTYQQLQKMKLDKSPFVVVSVVGQELLTAGHHGASVVVLEAALKIGTCSLKLRGSVFSAL
SSAYWSLGNTEKSTGYMQQDLDVAKTLGDQTGECRAHGNLGSAFFSKGNYREALTNHRHQ
LVLAMKLKDR
EAASSALSSLGHVYTAIGDYPNALASHKQCVLLAKQSKDELSEARELGNM
GAVYIAMGDFENAVQCHEQHLKIAKD
LGNKREEARAYSNLGSAYHYRRNFDKAMSYHNYV
LELAQE
LMEKAIEMRAYAGLGHAARCMQDLERAKQYHEQQLGIAEDLKDRAAEGRASSNL
GIIHQMKGDYDTALKLHKTHLCIAQELSDYAAQGRAYGNMGNAYNALGMYDQAVKYHRQE
LQISME
VNDRASQASTHGNLAVAYQALGAHDRALQHYQNHLNIARELRDIQSEARALSNL
GNFHCSRGEYVQAAPYYEQYLRLAPD
LQDMEGEGKVCHNLGYAHYCLGNYQEAVKYYEQD
LALAKDLHDKLSQAKAYCNLGLAFKALLNFSKAEECQKYLLSLAQS
LNNSQAKFRALGNL
GDIFICKKDINGAIKFYEQQLGLAHQVKDRRLEASAYAALGTAYRMIQKYDKALGYHTQE
LEVYQE
LSDLPGECRAHGHLAAVYMALGKYTMAFKCYEEQLDLGQKLKDPSLEAQVYGNM
GITKMNMNVMEEAIGYFEQQLAMLQQLSGNESVLDRGRAYGNLGDCYEALGDYEEAIKYY
EQYLSVAQS
LNRMQDQAKAYRGLGNGHRAMGSLQQALVCFEKRLVVAHELGEAFNKAQAY
GELGSLHSQLGNYEQAISCLERQLNIARD
MKDRALESDAACGLGGVYQQMGEYDTALQYH
QLDLQIAEETNNPTCQGRAYGNLGLTYESLGTFERAVVYQEQHLSIAAQ
MNDLAAKTVSY
SSLGRTHHALQNYSQAVMYLQEGLRLAEQLGRREDEAKIRHGLGLSLWASGNLEEAQHQL
YRASALFET
IRHEAQLSTDYKLSLFDLQTSSYQALQRVLVSLGHHDEALAVAERGRTRAF
ADLLVERQTGQQDSDPYSPVTIDQILEMVNGQRGLVLYYSLAAGYLYSWLLAPGAGIVKF
HEHYLGENTVENSSDFQASSSVTLPTATGSALEQHIASVREALGVESHYSRACASSETES
EAGDIMDQQFEEMNNKLNSVTDPTGFLRMVRRNNLFNRSCQSMTSLFSNTVSPTQDGTSS
LPRRQSSFAKPPLRALYDLLIAPMEGGLMHSSGPVGRHRQLILVLEGELYLIPFALLKGS
SSNEYLYERFGLLAVPSIRSLSVQSKSHLRKNPPTYSSSTSMAAVIGNPKLPSAVMDRWL
WGPMPSAEEEAYMVSELLGCQPLVGSVATKERVMSALTQAECVHFATHISWKLSALVLTP
SMDGNPASSKSSFGHPYTIPESLRVQDDASDGESISDCPPLQELLLTAADVLDLQLPVKL
VVLGSSQESNSKVTADGVIALTRAFLAAGAQCVLVSLWPVPVAASKMFIHAFYSSLLNGL
KASAALGEAMKVVQSSKAFSHPSNWAGFMLIGS
DVKLNSPSSLIGQALTEILQHPERARD
ALRVLLHLVEKSLQRIQNGQRNAMYTSQQSVENKVGGIPGWQALLTAVGFRLDPPTSGLP
AAVFFPTSDPGDRLQQCSSTLQSLLGLPNPALQALCKLITASETGEQLISRAVKNMVGML
HQVLVQLQAGEKEQDLASAPIQVSISVQLWRLPGCHEFLAALGFDLCEVGQEEVILKTGK
QANRRTVHFALQSLLSLFDSTELPKRLSLDSSSSLESLASAQSVSNALPLGYQQPPFSPT
GADSIASDAISVYSLSSIASSMSFVSKPEGGSEGGGPGGRQDHDRSKNAYLQRSTLPRSQ
LPPQTRPAGNKDEEEYEGFSIISNEPLATYQENRNTCFSPDHKQPQPGTAGGMRVSVSSK
GSISTPNSPVKMTLIPSPNSPFQKVGKLASSDTGESDQSSTETDSTVKSQEESNPKLDPQ
ELAQKILEETQSHLIAVERLQRSGGQVSKSNNPEDGVQAPSSTAVFRASETSAFSRPVLS
HQKSQPSPVTVKPKPPARSSSLPKVSSGYSSPTTSEMSIKDSPSQHSGRPSPGCDSQTSQ
LDQPLFKLKYPSSPYSAHISKSPRNMSPSSGHQSPAGSAPSPALSYSSAGSARSSPADAP
DIDKLKMAAIDEKVQAVHNLKMFWQSTPQHSTGPMKIFRGAPGTMTSKRDVLSLLNLSPR
HNKKEEGVDKLELKELSLQQHDGAPPKAPPNGHWRTETTSLGSLPLPAGPPATAPARPLR
LPSGNGYKFLSPGRFFPSSKC
Sequence length 2481
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
33
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA 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
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36906605 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24553397
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24553397 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 31509021
★☆☆☆☆
Found in Text Mining only
Eczema Eczema GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 28548104 Associate
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma Pubtator 36982708 Associate
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple sclerosis Pubtator 36232761 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Neoplasms BEFREE 29032825
★☆☆☆☆
Found in Text Mining only