SAMD7 (sterile alpha motif domain containing 7)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 344658
Gene name Sterile alpha motif domain containing 7
Gene symbol SAMD7
Synonyms (NCBI Gene)
MDCD
Chromosome 3
Chromosome location 3q26.2
miRNA miRNA information provided by mirtarbase database.
55
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (55)
miRTarBase ID miRNA Experiments Reference
MIRT716489 hsa-miR-4712-5p HITS-CLIP 19536157
MIRT716488 hsa-miR-770-5p HITS-CLIP 19536157
MIRT716487 hsa-miR-6758-3p HITS-CLIP 19536157
MIRT716486 hsa-miR-136-5p HITS-CLIP 19536157
MIRT716485 hsa-miR-6515-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
GO:0003682 Function Chromatin binding IBA
GO:0005515 Function Protein binding IPI 32296183, 32814053
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
620493 25394 ENSG00000187033
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.
Q7Z3H4
Protein name Sterile alpha motif domain-containing protein 7 (SAM domain-containing protein 7)
Protein function Component of a Polycomb group (PcG) multiprotein PRC1-like complex, essential for establishing rod photoreceptor cell identity and function by silencing nonrod gene expression in developing rod photoreceptor cells. Via its association with the P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 325 → 388 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina (at protein level) (PubMed:26887858). Expressed in the retinal inner and outer nuclear layers (PubMed:38272031). {ECO:0000269|PubMed:26887858, ECO:0000269|PubMed:38272031}.
Sequence 
MAVNPLLTPTGQQTIPLIPSPFGPPTVDRDVLPSTVAPTDPRQFCVPSQFGSSVLPNTNM
ANVLSSRIYPGWGILPPESIKAVARRNEMIQRHHTARTEMEMYAIYQQRRMEKINPKGLA
GLGIPFLYGSSVPAAPAAYHGRSMLPAGDLHFHRSTLRNLQGNPMLAATAPHFEESWGQR
CRRLRKNTGNQKALDSDAESSKSQAEEKILGQTHAVPYEEDHYAKDPDIEAPSNQKSSET
NEKPTTALANTCGELEPTHRKPWGSHTTTLKAKAWDDGKEEASEQIFATCDEKNGVCPPV
PRPSLPGTHALVTIGGNLSLDEDIQKWTVDDVHSFIRSLPGCSDYAQVFKDHAIDGETLP
LLTEEHLRGTMGLKLGPALKIQSQVSQHVGSMFYKKTLSFPIRQAFDQPADTSPLLDPNS
WSDTMNIFCPQDTIIPKGIERGSMRN
Sequence length 446
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
MACULAR DYSTROPHY WITH CONE DYSFUNCTION Pathogenic rs372640496, rs1713305306, rs2473480338 RCV003985684
RCV003985685
RCV003985688
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy with or without cone dysfunction Pathogenic rs2473470274, rs746879032 RCV003985686
RCV003985687
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (1)
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
MACULAR DEGENERATION — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Retinitis Pigmentosa Retinitis Pigmentosa BEFREE 26887858
★★★★★
★☆☆☆☆
Found in Text Mining only