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SAMD12 sterile alpha motif domain containing 12 [ Homo sapiens (human) ]

Gene ID: 401474, updated on 23-Nov-2021

Summary

Official Symbol
SAMD12provided by HGNC
Official Full Name
sterile alpha motif domain containing 12provided by HGNC
Primary source
HGNC:HGNC:31750
See related
Ensembl:ENSG00000177570 MIM:618073
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
Expression
Broad expression in thyroid (RPKM 2.1), brain (RPKM 2.1) and 22 other tissues See more
Orthologs
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Genomic context

See SAMD12 in Genome Data Viewer
Location:
8q24.11-q24.12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (118131825..118621963, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (119144064..119634202, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene exostosin glycosyltransferase 1 Neighboring gene small nucleolar RNA, C/D box 168 Neighboring gene Sharpr-MPRA regulatory region 9283 Neighboring gene uncharacterized LOC105375724 Neighboring gene SAMD12 antisense RNA 1 Neighboring gene ribosomal protein S26 pseudogene 35 Neighboring gene uncharacterized LOC105375723

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of brain lesion distribution in multiple sclerosis.
GeneReviews: Not available
Epilepsy, familial adult myoclonic, 1
MedGen: C1832841 OMIM: 601068 GeneReviews: Not available
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HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of sterile alpha motif domain containing 12 (SAMD12) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39458, MGC148139, MGC148140

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
is_active_in cytoplasmic side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
sterile alpha motif domain-containing protein 12
Names
SAM domain-containing protein 12

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)

  1. NM_001101676.2NP_001095146.1  sterile alpha motif domain-containing protein 12 isoform a

    See identical proteins and their annotated locations for NP_001095146.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) contains an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR. It encodes isoform a, which is shorter and has a distinct C-terminus, compared to isoform b.
    Source sequence(s)
    AP003468, AP003476, BF326714, CB241290, DA459013, DB228621, DB232393
    Consensus CDS
    CCDS47913.1
    UniProtKB/TrEMBL
    B8ZZB7
    Related
    ENSP00000435927.2, ENST00000524796.6
    Conserved Domains (1) summary
    cd09510
    Location:72146
    SAM_aveugle-like; SAM domain of aveugle-like subfamily
  2. NM_001349811.2NP_001336740.1  sterile alpha motif domain-containing protein 12 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region and contains an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR, compared to variant 2. It encodes isoform c, which is shorter and has a distinct C-terminus, compared to isoform b.
    Source sequence(s)
    AP003468, AP003476, BF326714, CB241290, DA459013, DB228621, DB232393
    Related
    ENSP00000387133.5, ENST00000409003.5
    Conserved Domains (1) summary
    cl15755
    Location:72136
    SAM_superfamily; SAM (Sterile alpha motif )
  3. NM_001363274.2NP_001350203.1  sterile alpha motif domain-containing protein 12 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC023590, AP003468, DA459013, DB232393
    Conserved Domains (1) summary
    cd09510
    Location:72146
    SAM_aveugle-like; SAM domain of aveugle-like subfamily
  4. NM_207506.3NP_997389.2  sterile alpha motif domain-containing protein 12 isoform b

    See identical proteins and their annotated locations for NP_997389.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (b).
    Source sequence(s)
    AC023590, AK096777, AP003468, BC121818, DA335826
    Consensus CDS
    CCDS6325.1
    UniProtKB/Swiss-Prot
    Q8N8I0
    Related
    ENSP00000314173.4, ENST00000314727.9
    Conserved Domains (1) summary
    cd09510
    Location:72146
    SAM_aveugle-like; SAM domain of aveugle-like subfamily

RNA

  1. NR_109794.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC023590, AP003468, AP003476, AP003496
  2. NR_146234.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate 3' exon structure compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP003468, AP003476, BU687559, DA459013, DB232393

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    118131825..118621963 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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