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

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Benign	rs375430553	RCV005909523
Familial pancreatic carcinoma	Benign	rs79037098	RCV005909610
Hepatocellular carcinoma	Benign	rs79037098	RCV005909608
Lung cancer	Benign	rs79037098	RCV005909614
Neutrophil inclusion bodies	Benign	rs202118659	RCV002292645
Optic atrophy	Uncertain significance	rs200038862	RCV004815428
Ovarian cancer	Benign	rs79037098	RCV005909609
Ovarian serous cystadenocarcinoma	Benign	rs79037098	RCV005909612
Papillary renal cell carcinoma type 1	Uncertain significance	rs747039482	RCV005928484
Retinal dystrophy	Likely benign; Uncertain significance	rs531354544, rs773665411, rs200099017, rs1381016029, rs145975434, rs564703450, rs546721340, rs144490434, rs367769858	RCV004815398 RCV004815462 RCV004816907 RCV004818256 RCV004813697 RCV004813688 RCV004813691 RCV004813959 RCV004815298
Retinitis pigmentosa	Uncertain significance	rs762363509, rs1028575136	RCV001724827 RCV001724272
SAMD11-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs144608636, rs370104927, rs758006081, rs146327803, rs140751899, rs139574491, rs149145706, rs370716248, rs201186828, rs148711625, rs9988179, rs146331776, rs139210662, rs143282473, rs28419423 View all (30 more)	RCV003963285 RCV003920889 RCV003938762 RCV003946209 RCV003980401 RCV003930952 RCV003980414 RCV003931014 RCV003908806 RCV003980616 RCV003983954 RCV003931107 RCV003940961 RCV003908850 RCV003983955 RCV003921093 RCV003956132 RCV003980613 RCV003966064 RCV003908843 RCV003956206 RCV003980581 RCV003966137 RCV003966140 RCV003931059 RCV003956201 RCV003908844 RCV003956135 RCV003956200 RCV003921149 RCV003948553 RCV003908804 RCV003921147 RCV003921118 RCV003921100 RCV005397136 RCV003958517 RCV003933589 RCV003397494 RCV003911626 RCV003952210 RCV003914321 RCV003914354 RCV003928520 RCV003916060
Sarcoma	Benign	rs79037098	RCV005909611
Uterine carcinosarcoma	Benign	rs79037098	RCV005909613
Uterine corpus endometrial carcinoma	Benign	rs79037098	RCV005909615

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	30276537
Autistic Disorder	Associate	26204995, 30276537
Breast Neoplasms	Associate	28912426
Coronary Restenosis	Associate	37468836
Neoplasms	Associate	28912426
Retinal Diseases	Associate	36161854

SAMD11 (sterile alpha motif domain containing 11)