SAMD7 sterile alpha motif domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SAMD7provided by HGNC
Official Full Name: sterile alpha motif domain containing 7provided by HGNC
Primary source: HGNC:HGNC:25394
See related: Ensembl:ENSG00000187033 MIM:620493; AllianceGenome:HGNC:25394
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MDCD
Summary: Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; chromatin binding activity; and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription; negative regulation of gene expression, epigenetic; and retinal rod cell development. Predicted to be located in cytoplasm. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. Implicated in macular degeneration. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3q26.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (169911572..169939175)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (172695837..172723459)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (169629360..169656963)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Title: Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.
Title: Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.
Data have identified a novel retinal SAM domain protein, Samd7, which could act as a transcriptional repressor involved in fine-tuning of Crx-regulated gene expression.
Title: Sterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Macular dystrophy with or without cone dysfunction MedGen: CN377233 OMIM: 620762 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SAMD7__5543 (e-PCR)
- UniSTS:463882

NoName (e-PCR)
- UniSTS:485648

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of gene expression, epigenetic	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in retinal rod cell development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of PRC1 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sterile alpha motif domain-containing protein 7

Names: SAM domain-containing protein 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001304366.2 → NP_001291295.1 sterile alpha motif domain-containing protein 7

See identical proteins and their annotated locations for NP_001291295.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC008040, AL711948, BX648534, BX648991

Consensus CDS

CCDS3209.1

UniProtKB/Swiss-Prot

Q7Z3H4

Related

ENSP00000334668.3, ENST00000335556.7

Conserved Domains (1) summary

cd09579
Location:324 → 391

SAM_Samd7,11; SAM domain of Samd7,11 subfamily of Polycomb group
NM_182610.4 → NP_872416.1 sterile alpha motif domain-containing protein 7

See identical proteins and their annotated locations for NP_872416.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC008040, AL711948, BX537903, BX648991

Consensus CDS

CCDS3209.1

UniProtKB/Swiss-Prot

Q7Z3H4

Related

ENSP00000391299.2, ENST00000428432.6

Conserved Domains (1) summary

cd09579
Location:324 → 391

SAM_Samd7,11; SAM domain of Samd7,11 subfamily of Polycomb group

RNA

NR_130713.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC008040, AL711948, BC143909, BX648991