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TMEM217B transmembrane protein 217B [ Homo sapiens (human) ]

Gene ID: 121725057, updated on 22-Mar-2024

Summary

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Official Symbol
TMEM217Bprovided by HGNC
Official Full Name
transmembrane protein 217Bprovided by HGNC
Primary source
HGNC:HGNC:55922
See related
Ensembl:ENSG00000286105
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
Orthologs
mouse all
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Genomic context

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Location:
6p21.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (37212181..37258144, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (37035836..37081752, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (37179957..37225920, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37069635-37070242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37070243-37070850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17129 Neighboring gene CRISPRi-validated cis-regulatory element chr6.2479 Neighboring gene ribosomal protein L12 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37083327-37083916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37091769-37092747 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37092748-37093726 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:37093727-37094705 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37094807-37095484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37098237-37099155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37099156-37100073 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37105214-37106050 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:37109113-37109630 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:37137173-37137771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17131 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:37139693-37140286 Neighboring gene CRISPR perturbation-validated PIM1 cis-regulatory element TAD2.SE2.HS2 Neighboring gene Pim-1 proto-oncogene, serine/threonine kinase Neighboring gene Sharpr-MPRA regulatory region 1580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17134 Neighboring gene transmembrane protein 217 Neighboring gene Sharpr-MPRA regulatory region 10381 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24455 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:37225915-37226550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:37232157-37232657 Neighboring gene TBC1 domain family member 22B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17138 Neighboring gene Sharpr-MPRA regulatory region 3623 Neighboring gene uncharacterized LOC105375040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24457 Neighboring gene RNA, 7SL, cytoplasmic 273, pseudogene Neighboring gene ring finger protein 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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 Variation Viewer (GRCh37.p13)

General gene information

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Homology

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
putative transmembrane protein 217B

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_001395377.1 → NP_001382306.1  putative transmembrane protein 217B precursor

    Status: VALIDATED

    Source sequence(s)
    AL353579
    Consensus CDS
    CCDS93907.1
    UniProtKB/Swiss-Prot
    A0A494BZU4
    UniProtKB/TrEMBL
    Q8N0U3
    Related
    ENSP00000498233.1, ENST00000478262.2
    Conserved Domains (1) summary
    pfam15049
    Location:4 → 165
    DUF4534; Protein of unknown function (DUF4534)

  2. NM_001395378.1 → NP_001382307.1  putative transmembrane protein 217B precursor

    Status: VALIDATED

    Source sequence(s)
    AL353579
    Consensus CDS
    CCDS93907.1
    UniProtKB/Swiss-Prot
    A0A494BZU4
    UniProtKB/TrEMBL
    Q8N0U3
    Related
    ENSP00000499172.1, ENST00000497775.2
    Conserved Domains (1) summary
    pfam15049
    Location:4 → 165
    DUF4534; Protein of unknown function (DUF4534)

  3. NM_001395938.1 → NP_001382867.1  putative transmembrane protein 217B precursor

    Status: VALIDATED

    Source sequence(s)
    AL353579
    Consensus CDS
    CCDS93907.1
    UniProtKB/Swiss-Prot
    A0A494BZU4
    UniProtKB/TrEMBL
    Q8N0U3
    Related
    ENSP00000498349.1, ENST00000650812.1
    Conserved Domains (1) summary
    pfam15049
    Location:4 → 165
    DUF4534; Protein of unknown function (DUF4534)

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    37212181..37258144 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    37035836..37081752 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A494BZU4.1 GenPept UniProtKB/Swiss-Prot:A0A494BZU4

Gene LinkOut

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