SERGEF (secretion regulating guanine nucleotide exchange factor)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 26297
Gene name Secretion regulating guanine nucleotide exchange factor
Gene symbol SERGEF
Synonyms (NCBI Gene)
DELGEFGnefr
Chromosome 11
Chromosome location 11p15.1
miRNA miRNA information provided by mirtarbase database.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT030574 hsa-miR-24-3p Microarray 19748357
MIRT439678 hsa-miR-155-5p HITS-CLIP 22473208
MIRT439677 hsa-miR-382-5p HITS-CLIP 24374217
MIRT439678 hsa-miR-155-5p HITS-CLIP 22473208
MIRT439677 hsa-miR-382-5p HITS-CLIP 24374217
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS 10571079
GO:0005515 Function Protein binding IPI 12459492, 14980502, 23455924, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 10571079
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606051 17499 ENSG00000129158
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UGK8
Protein name Secretion-regulating guanine nucleotide exchange factor (Deafness locus-associated putative guanine nucleotide exchange factor) (DelGEF) (Guanine nucleotide exchange factor-related protein)
Protein function Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00415 RCC1 16 → 64 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 67 → 116 Regulator of chromosome condensation (RCC1) repeat Repeat
PF13540 RCC1_2 217 → 243 Repeat
PF00415 RCC1 283 → 348 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 350 → 399 Regulator of chromosome condensation (RCC1) repeat Repeat
Sequence 
MEREPSASEAAPAAAALFAWGANSYGQLGLGHKEDVLLPQQLNDFCKPRSVRRITGGGGH
SAVVTDGGDLFVCGLNKDGQLGLGHTEDIPYFTPCKSLFGCPIQQVACGWDFTIMLTENG
QVLSCGSNSFGQLGVPHGPRRCVVPQAIELHKEKVVCIAAGLRHAVAATASGIVFQWGTG
LASCGRRLCPGQTLPLFFTAKEPSRVTGLENSKAMCVLAGSDHSASLTDAGEVYVWGSNK
HGQLANEAAFLPVPQKIEAHCFQNEKVTAIWSGWTHLVAQTETGKMFTWGRADYGQLGRK
LETYEGWKLEKQDSFLPCSRPPNSMPSSPHCLTGATEVSCGSEHNLAIIGGVCYSWGWNE
HGMCGDGTEANVWAPKPVQALLSSSGLLVGCGAGHSLALCQLPAHPALVQDPKVTYLSPD
AIEDTESQKAMDKERNWKERQSETSTQSQSDWSRNGGL
Sequence length 458
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (6)
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
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cerebrovascular accident Stroke BEFREE 28408707
★★★★★
★☆☆☆☆
Found in Text Mining only
Deafness Deafness Pubtator 12459492 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Sensorineural Hearing Loss (disorder) Hearing Loss BEFREE 10571079
★★★★★
★☆☆☆☆
Found in Text Mining only
Stroke Stroke Pubtator 28408707 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only