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TMEM217 transmembrane protein 217 [ Homo sapiens (human) ]

Gene ID: 221468, updated on 24-Nov-2021

Summary

Official Symbol
TMEM217provided by HGNC
Official Full Name
transmembrane protein 217provided by HGNC
Primary source
HGNC:HGNC:21238
See related
Ensembl:ENSG00000172738 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
Also known as
C6orf128; dJ355M6.2
Expression
Broad expression in testis (RPKM 3.1), adrenal (RPKM 0.9) and 22 other tissues See more
Orthologs
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Genomic context

See TMEM217 in Genome Data Viewer
Location:
6p21.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (37212181..37258144, complement)
105.20201022 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 CRISPRi-validated cis-regulatory element chr6.2479 Neighboring gene Pim-1 proto-oncogene, serine/threonine kinase Neighboring gene uncharacterized LOC121725057 Neighboring gene Sharpr-MPRA regulatory region 10381 Neighboring gene TBC1 domain family member 22B Neighboring gene Sharpr-MPRA regulatory region 3623 Neighboring gene uncharacterized LOC105375040

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association of mood-incongruent psychotic bipolar disorder.
GeneReviews: Not available
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_001162900.3NP_001156372.1  transmembrane protein 217 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL353579
    Related
    ENSP00000498333.1, ENST00000652639.1
    Conserved Domains (1) summary
    pfam15049
    Location:11171
    DUF4534; Protein of unknown function (DUF4534)
  2. NM_001286401.2NP_001273330.1  transmembrane protein 217 isoform 3

    See identical proteins and their annotated locations for NP_001273330.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL353579, AW188099, BC009625, BC026012, BG285024
    Consensus CDS
    CCDS69102.1
    UniProtKB/Swiss-Prot
    Q8N7C4
    Related
    ENSP00000499204.1, ENST00000651039.1
    Conserved Domains (1) summary
    pfam15049
    Location:12171
    DUF4534; Protein of unknown function (DUF4534)
  3. NM_001371555.1NP_001358484.1  transmembrane protein 217 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL353579
    Related
    ENSP00000349198.2, ENST00000356757.7
    Conserved Domains (1) summary
    pfam15049
    Location:12171
    DUF4534; Protein of unknown function (DUF4534)
  4. NM_001395238.1NP_001382167.1  transmembrane protein 217 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL353579
    Conserved Domains (1) summary
    pfam15049
    Location:11171
    DUF4534; Protein of unknown function (DUF4534)
  5. NM_001395240.1NP_001382169.1  transmembrane protein 217 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL353579
    Conserved Domains (1) summary
    pfam15049
    Location:11171
    DUF4534; Protein of unknown function (DUF4534)
  6. NM_001395241.1NP_001382170.1  transmembrane protein 217 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL353579
  7. NM_001395242.1NP_001382171.1  transmembrane protein 217 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL353579
  8. NM_001395243.1NP_001382172.1  transmembrane protein 217 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL353579
  9. NM_001395244.1NP_001382173.1  transmembrane protein 217 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL353579
  10. NM_145316.4NP_660359.2  transmembrane protein 217 isoform 1

    See identical proteins and their annotated locations for NP_660359.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK098666, AL353579, DB458508
    Consensus CDS
    CCDS4831.1
    UniProtKB/Swiss-Prot
    Q8N7C4
    Related
    ENSP00000338164.2, ENST00000336655.7
    Conserved Domains (1) summary
    pfam15049
    Location:11171
    DUF4534; Protein of unknown function (DUF4534)

RNA

  1. NR_172517.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL353579

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_000006.12 Reference GRCh38.p13 Primary Assembly

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