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TMEM196 transmembrane protein 196 [ Homo sapiens (human) ]

Gene ID: 256130, updated on 23-Nov-2021

Summary

Official Symbol
TMEM196provided by HGNC
Official Full Name
transmembrane protein 196provided by HGNC
Primary source
HGNC:HGNC:22431
See related
Ensembl:ENSG00000173452
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
Biased expression in brain (RPKM 2.3), adrenal (RPKM 0.4) and 2 other tissues See more
Orthologs
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Genomic context

See TMEM196 in Genome Data Viewer
Location:
7p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (19719315..19774431, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (19758938..19813240, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375180 Neighboring gene uncharacterized LOC107986774 Neighboring gene RNA polymerase I subunit F Neighboring gene microRNA 3146 Neighboring gene uncharacterized LOC105379720 Neighboring gene uncharacterized LOC101927668 Neighboring gene ribosomal protein L21 pseudogene 75

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 for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.
GeneReviews: Not available
Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC42090, DKFZp686K0753, DKFZp686H19205

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_001363562.2NP_001350491.1  transmembrane protein 196 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC004543
    Consensus CDS
    CCDS87484.1
    Related
    ENSP00000385087.2, ENST00000405844.6
  2. NM_001366625.1NP_001353554.1  transmembrane protein 196 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC004543, BG197605, BX647256, BX648384
  3. NM_001366626.1NP_001353555.1  transmembrane protein 196 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC004543, CK823401
  4. NM_001366627.1NP_001353556.1  transmembrane protein 196 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC004543
    Related
    ENSP00000414247.1, ENST00000422233.5
  5. NM_001366628.1NP_001353557.1  transmembrane protein 196 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC004543
    Related
    ENSP00000438368.1, ENST00000493519.2
  6. NM_152774.3NP_689987.3  transmembrane protein 196 isoform 1

    See identical proteins and their annotated locations for NP_689987.3

    Status: VALIDATED

    Source sequence(s)
    BX647256, BX648384, DN991960
    Consensus CDS
    CCDS34607.2
    UniProtKB/Swiss-Prot
    Q5HYL7
    Related
    ENSP00000384234.3, ENST00000405764.7

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    19719315..19774431 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011929.2XP_016867418.1  transmembrane protein 196 isoform X3

  2. XM_017011928.2XP_016867417.1  transmembrane protein 196 isoform X1

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