Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	148398
Gene name	Sterile alpha motif domain containing 11
Gene symbol	SAMD11
Synonyms (NCBI Gene)	MRS
Chromosome	1
Chromosome location	1p36.33

Show/Hide all (90)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019690	hsa-miR-375	Microarray	20215506
MIRT022194	hsa-miR-124-3p	Microarray	18668037
MIRT1325055	hsa-miR-214	CLIP-seq
MIRT1325056	hsa-miR-3619-5p	CLIP-seq
MIRT1325057	hsa-miR-4291	CLIP-seq
MIRT1325058	hsa-miR-4523	CLIP-seq
MIRT1325059	hsa-miR-4786-5p	CLIP-seq
MIRT1325060	hsa-miR-761	CLIP-seq
MIRT1325061	hsa-miR-922	CLIP-seq
MIRT2458738	hsa-miR-1184	CLIP-seq
MIRT2458739	hsa-miR-1205	CLIP-seq
MIRT2458740	hsa-miR-1470	CLIP-seq
MIRT2458741	hsa-miR-1913	CLIP-seq
MIRT2458742	hsa-miR-3127-3p	CLIP-seq
MIRT2458743	hsa-miR-3130-3p	CLIP-seq
MIRT2458744	hsa-miR-3155	CLIP-seq
MIRT2458745	hsa-miR-3155b	CLIP-seq
MIRT2458746	hsa-miR-3158-5p	CLIP-seq
MIRT2458747	hsa-miR-3166	CLIP-seq
MIRT2458748	hsa-miR-3194-3p	CLIP-seq
MIRT2458749	hsa-miR-324-3p	CLIP-seq
MIRT2458750	hsa-miR-331-3p	CLIP-seq
MIRT2458751	hsa-miR-4290	CLIP-seq
MIRT2458752	hsa-miR-4297	CLIP-seq
MIRT2458753	hsa-miR-4685-5p	CLIP-seq
MIRT2458754	hsa-miR-4716-3p	CLIP-seq
MIRT2458755	hsa-miR-4723-5p	CLIP-seq
MIRT2458756	hsa-miR-4733-3p	CLIP-seq
MIRT2458757	hsa-miR-4771	CLIP-seq
MIRT1325059	hsa-miR-4786-5p	CLIP-seq
MIRT2458758	hsa-miR-4793-3p	CLIP-seq
MIRT2458759	hsa-miR-483-3p	CLIP-seq
MIRT2458760	hsa-miR-484	CLIP-seq
MIRT2458761	hsa-miR-760	CLIP-seq
MIRT2458762	hsa-miR-767-5p	CLIP-seq
MIRT2458739	hsa-miR-1205	CLIP-seq
MIRT2458740	hsa-miR-1470	CLIP-seq
MIRT2458741	hsa-miR-1913	CLIP-seq
MIRT2458742	hsa-miR-3127-3p	CLIP-seq
MIRT2458749	hsa-miR-324-3p	CLIP-seq
MIRT2458750	hsa-miR-331-3p	CLIP-seq
MIRT2458751	hsa-miR-4290	CLIP-seq
MIRT2458753	hsa-miR-4685-5p	CLIP-seq
MIRT2458754	hsa-miR-4716-3p	CLIP-seq
MIRT2458755	hsa-miR-4723-5p	CLIP-seq
MIRT1325059	hsa-miR-4786-5p	CLIP-seq
MIRT2458738	hsa-miR-1184	CLIP-seq
MIRT2458739	hsa-miR-1205	CLIP-seq
MIRT2458740	hsa-miR-1470	CLIP-seq
MIRT2458741	hsa-miR-1913	CLIP-seq
MIRT2458742	hsa-miR-3127-3p	CLIP-seq
MIRT2458743	hsa-miR-3130-3p	CLIP-seq
MIRT2458744	hsa-miR-3155	CLIP-seq
MIRT2458745	hsa-miR-3155b	CLIP-seq
MIRT2458746	hsa-miR-3158-5p	CLIP-seq
MIRT2458747	hsa-miR-3166	CLIP-seq
MIRT2458748	hsa-miR-3194-3p	CLIP-seq
MIRT2458749	hsa-miR-324-3p	CLIP-seq
MIRT2458750	hsa-miR-331-3p	CLIP-seq
MIRT2458751	hsa-miR-4290	CLIP-seq
MIRT2458752	hsa-miR-4297	CLIP-seq
MIRT2458753	hsa-miR-4685-5p	CLIP-seq
MIRT2458754	hsa-miR-4716-3p	CLIP-seq
MIRT2458755	hsa-miR-4723-5p	CLIP-seq
MIRT2458756	hsa-miR-4733-3p	CLIP-seq
MIRT2458757	hsa-miR-4771	CLIP-seq
MIRT1325059	hsa-miR-4786-5p	CLIP-seq
MIRT2458758	hsa-miR-4793-3p	CLIP-seq
MIRT2458759	hsa-miR-483-3p	CLIP-seq
MIRT2458760	hsa-miR-484	CLIP-seq
MIRT2458761	hsa-miR-760	CLIP-seq
MIRT2458762	hsa-miR-767-5p	CLIP-seq
MIRT2458738	hsa-miR-1184	CLIP-seq
MIRT2458739	hsa-miR-1205	CLIP-seq
MIRT2458740	hsa-miR-1470	CLIP-seq
MIRT2458741	hsa-miR-1913	CLIP-seq
MIRT2458742	hsa-miR-3127-3p	CLIP-seq
MIRT2458743	hsa-miR-3130-3p	CLIP-seq
MIRT2458746	hsa-miR-3158-5p	CLIP-seq
MIRT2458747	hsa-miR-3166	CLIP-seq
MIRT2458749	hsa-miR-324-3p	CLIP-seq
MIRT2458750	hsa-miR-331-3p	CLIP-seq
MIRT2458751	hsa-miR-4290	CLIP-seq
MIRT2458753	hsa-miR-4685-5p	CLIP-seq
MIRT2458754	hsa-miR-4716-3p	CLIP-seq
MIRT2458755	hsa-miR-4723-5p	CLIP-seq
MIRT2458757	hsa-miR-4771	CLIP-seq
MIRT1325059	hsa-miR-4786-5p	CLIP-seq
MIRT2458758	hsa-miR-4793-3p	CLIP-seq
MIRT2458762	hsa-miR-767-5p	CLIP-seq

Show/Hide all (10)

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	ISS
GO:0003682	Function	Chromatin binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0035102	Component	PRC1 complex	ISS
GO:0042393	Function	Histone binding	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0046548	Process	Retinal rod cell development	ISS

MIM	HGNC	e!Ensembl
616765	28706	ENSG00000187634

Q96NU1

Protein name

Sterile alpha motif domain-containing protein 11 (SAM domain-containing protein 11)

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. {ECO:0000250|UniProtKB:Q1RNF8}

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07647	SAM_2	540 → 603	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the outer and inner nuclear layers, ganglion cell layer and rod photoreceptors of the retina (at protein level) (PubMed:27734943). Widely expressed, showing the highest expression in kidney, prostate and retina (PubMed:277

Sequence

MSKGILQVHPPICDCPGCRISSPVNRGRLADKRTVALPAARNLKKERTPSFSASDGDSDG
SGPTCGRRPGLKQEDGPHIRIMKRRVHTHWDVNISFREASCSQDGNLPTLISSVHRSRHL
VMPEHQSRCEFQRGSLEIGLRPAGDLLGKRLGRSPRISSDCFSEKRARSESPQEALLLPR
ELGPSMAPEDHYRRLVSALSEASTFEDPQRLYHLGLPSHGEDPPWHDPPHHLPSHDLLRV
RQEVAAAALRGPSGLEAHLPSSTAGQRRKQGLAQHREGAAPAAAPSFSERELPQPPPLLS
PQNAPHVALGPHLRPPFLGVPSALCQTPGYGFLPPAQAEMFAWQQELLRKQNLARLELPA
DLLRQKELESARPQLLAPETALRPNDGAEELQRRGALLVLNHGAAPLLALPPQGPPGSGP
PTPSRDSARRAPRKGGPGPASARPSESKEMTGARLWAQDGSEDEPPKDSDGEDPETAAVG
CRGPTPGQAPAGGAGAEGKGLFPGSTLPLGFPYAVSPYFHTGAVGGLSMDGEEAPAPEDV
TKWTVDDVCSFVGGLSGCGEYTRVFREQGIDGETLPLLTEEHLLTNMGLKLGPALKIRAQ
VARRLGRVFYVASFPVALPLQPPTLRAPERELGTGEQPLSPTTATSPYGGGHALAGQTSP
KQENGTLALLPGAPDPSQPLC

Sequence length

681

Interactions

View interactions

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 (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutrophil inclusion bodies	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAMD11-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	30276537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	26204995, 30276537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28912426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	37468836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	36161854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	27734943		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

SAMD11 (sterile alpha motif domain containing 11)