SSC4D (scavenger receptor cysteine rich family member with 4 domains)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 136853
Gene name Scavenger receptor cysteine rich family member with 4 domains
Gene symbol SSC4D
Synonyms (NCBI Gene)
S4D-SRCRBSRCRB-S4DSRCRB4D
Chromosome 7
Chromosome location 7q11.23
Summary The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive im
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607639 14461 ENSG00000146700
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WTU2
Protein name Scavenger receptor cysteine-rich domain-containing group B protein (Four scavenger receptor cysteine-rich domains-containing protein) (S4D-SRCRB)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00530 SRCR 61 → 158 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 192 → 289 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 347 → 444 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 476 → 573 Scavenger receptor cysteine-rich domain Domain
Sequence
Sequence length 575
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene 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 (2)
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
AORTIC STENOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Fatty Liver Associate 38034016
★★★★★
★☆☆☆☆
Found in Text Mining only