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TMEM191B transmembrane protein 191B [ Homo sapiens (human) ]

Gene ID: 728229, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM191Bprovided by HGNC
Official Full Name
transmembrane protein 191Bprovided by HGNC
Primary source
HGNC:HGNC:33600
See related
Ensembl:ENSG00000278558 AllianceGenome:HGNC:33600
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
Biased expression in testis (RPKM 7.4), brain (RPKM 0.8) and 4 other tissues See more
Orthologs
all
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Genomic context

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Location:
22q11.21
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18527802..18530573)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20377669..20380440)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 247 member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20361787-20362627 Neighboring gene gamma-glutamyltransferase light chain family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20377409-20377989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13450 Neighboring gene phosphatidylinositol 4-kinase alpha pseudogene 1 Neighboring gene uncharacterized LOC124905077 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20403447-20404004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20416022-20416587

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Clone Names

  • AC023490.1

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 191B

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_001242313.1 → NP_001229242.1  transmembrane protein 191B

    See identical proteins and their annotated locations for NP_001229242.1

    Status: VALIDATED

    Source sequence(s)
    AC023490
    Consensus CDS
    CCDS74816.1
    UniProtKB/Swiss-Prot
    A0A087WXW8, P0C7N4
    UniProtKB/TrEMBL
    A0A087X073
    Related
    ENSP00000481358.1, ENST00000612978.5
    Conserved Domains (1) summary
    pfam15194
    Location:242 → 346
    TMEM191C; TMEM191C family

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    18527802..18530573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011546160.4 → XP_011544462.1  transmembrane protein 191B isoform X1

    UniProtKB/TrEMBL
    A0A087X073
    Related
    ENSP00000483146.2, ENST00000613577.5
    Conserved Domains (1) summary
    pfam15194
    Location:228 → 348
    TMEM191C; TMEM191C family

RNA

  1. XR_951236.3 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0C7N4.2 GenPept UniProtKB/Swiss-Prot:P0C7N4

Gene LinkOut

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

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