U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MANSC4 MANSC domain containing 4 [ Homo sapiens (human) ]

Gene ID: 100287284, updated on 8-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
MANSC4provided by HGNC
Official Full Name
MANSC domain containing 4provided by HGNC
Primary source
HGNC:HGNC:40023
See related
Ensembl:ENSG00000205693 AllianceGenome:HGNC:40023
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
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
12p11.22
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (27762427..27780236, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (27634144..27651950, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (27915360..27933169, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MRPS35 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:27857921-27858432 Neighboring gene high mobility group box 1 pseudogene 49 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6149 Neighboring gene mitochondrial ribosomal protein S35 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:27904053-27904827 Neighboring gene MPRA-validated peak1632 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4313 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27933183-27933682 Neighboring gene kelch like family member 42 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27127 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27159 Neighboring gene uncharacterized LOC105369709 Neighboring gene RN7SK pseudogene 15 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27974511-27975710

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
  2. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. Mao CG, et al. Thorac Cancer, 2020 Nov. PMID 33001583, Free PMC Article
  3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in epidermis development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in epithelium development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
MANSC domain-containing protein 4
Names
MANSC domain-containing protein ENSP00000370673

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001146221.5 → NP_001139693.1  MANSC domain-containing protein 4 precursor

    See identical proteins and their annotated locations for NP_001139693.1

    Status: VALIDATED

    Source sequence(s)
    AC009509, AC009511
    Consensus CDS
    CCDS53770.1
    UniProtKB/Swiss-Prot
    A6NHS7
    Related
    ENSP00000370673.3, ENST00000381273.4
    Conserved Domains (1) summary
    smart00765
    Location:29 → 117
    MANEC; The MANEC domain, formerly called MANSC

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    27762427..27780236 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520542.3 → XP_011518844.1  MANSC domain-containing protein 4 isoform X1

    Conserved Domains (1) summary
    smart00765
    Location:3 → 90
    MANEC; The MANEC domain, formerly called MANSC

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    27634144..27651950 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370708.1 → XP_054226683.1  MANSC domain-containing protein 4 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NHS7.3 GenPept UniProtKB/Swiss-Prot:A6NHS7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous