U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TMEM44 transmembrane protein 44 [ Homo sapiens (human) ]

Gene ID: 93109, updated on 22-Sep-2022

Summary

Official Symbol
TMEM44provided by HGNC
Official Full Name
transmembrane protein 44provided by HGNC
Primary source
HGNC:HGNC:25120
See related
Ensembl:ENSG00000145014 AllianceGenome:HGNC:25120
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
Ubiquitous expression in colon (RPKM 1.8), placenta (RPKM 1.5) and 24 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TMEM44 in Genome Data Viewer
Location:
3q29
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194587678..194633419, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197286279..197332050, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (194308407..194354148, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 93 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:194292893-194294092 Neighboring gene TMEM44 antisense RNA 1 Neighboring gene uncharacterized LOC105374291 Neighboring gene Sharpr-MPRA regulatory region 9326 Neighboring gene large 60S subunit nuclear export GTPase 1 Neighboring gene uncharacterized LOC124909474 Neighboring gene family with sequence similarity 43 member A

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

EBI GWAS Catalog

Description
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131692, MGC163169, DKFZp686O18124

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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_001011655.3NP_001011655.1  transmembrane protein 44 isoform b

    See identical proteins and their annotated locations for NP_001011655.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AC046143, AL547748, BC034353, BC144159
    Consensus CDS
    CCDS33921.1
    UniProtKB/Swiss-Prot
    Q2T9K0
    Related
    ENSP00000333355.6, ENST00000347147.9
  2. NM_001166305.2NP_001159777.1  transmembrane protein 44 isoform c

    See identical proteins and their annotated locations for NP_001159777.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes an alternate in-frame exon in the central coding but lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (c) is longer than isoform a.
    Source sequence(s)
    AC046143, AL547748, BC034353, BC111485
    Consensus CDS
    CCDS54699.1
    UniProtKB/Swiss-Prot
    Q2T9K0, Q8N4G3
    Related
    ENSP00000376227.2, ENST00000392432.6
  3. NM_001166306.2NP_001159778.1  transmembrane protein 44 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site and lacks an alternate exon, which results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC046143, AI640920, AL547748, BC014883
    Consensus CDS
    CCDS54698.1
    UniProtKB/Swiss-Prot
    Q2T9K0
    Related
    ENSP00000371402.3, ENST00000381975.7
  4. NM_138399.5NP_612408.3  transmembrane protein 44 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AC046143, AL547748, BC034353, BC144158
    Consensus CDS
    CCDS3308.2
    UniProtKB/Swiss-Prot
    Q2T9K0
    Related
    ENSP00000418674.1, ENST00000473092.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    194587678..194633419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    197286279..197332050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)