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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TMEM14B
transmembrane protein 14B
Chromosome 6 · 6p24.2
NCBI Gene: 81853Ensembl: ENSG00000137210.14HGNC: HGNC:21384UniProt: A0A087WU83
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingcerebral cortex developmentneural precursor cell proliferationBlackfan-Diamond anemiahemoglobin D diseasedominant beta-thalassemiaHereditary persistence of fetal hemoglobin - beta-thalassemia
✦AI Summary

TMEM14B is a primate-specific transmembrane protein essential for neocortical development and expansion. Its primary function involves promoting neural progenitor cell proliferation and cortical folding during brain development 1. Mechanistically, TMEM14B drives proliferation by increasing phosphorylation and nuclear translocation of IQGAP1, which subsequently promotes G1/S cell cycle transitions in neural progenitors 1. Expression of TMEM14B in embryonic neural progenitors induces cortical thickening, gyrification, outer subventricular zone expansion, and the appearance of outer radial glia-like cells in postnatal mice, with proportional increases across all cortical layers 1. Beyond developmental roles, TMEM14B has emerging disease relevance. It was identified as a novel poor prognostic marker in hepatocellular carcinoma, with TMEM14B knockdown inhibiting cancer cell proliferation and migration 2. Additionally, TMEM14B has been identified as a potential blood biomarker gene in schizophrenia diagnosis 3, and novel coding variants in TMEM14B were detected in high-risk neuroblastoma patients 4. TMEM14B represents an alternatively spliced primate-specific gene regulated by the transposon-derived protein SETMAR, suggesting its role in primate-specific neural development 5.

Sources cited
1
TMEM14B is primate-specific, marks outer radial glia, and promotes cortical expansion through IQGAP1-mediated G1/S transitions
PMID: 29033352
2
TMEM14B identified as poor prognostic marker in hepatocellular carcinoma with roles in proliferation and migration
PMID: 37380717
3
TMEM14B identified as key gene and potential blood biomarker for schizophrenia diagnosis
PMID: 35016150
4
Novel coding variants in TMEM14B identified in high-risk neuroblastoma patients
PMID: 36037157
5
TMEM14B is alternatively spliced primate-specific gene regulated by SETMAR, associated with neocortex expansion and brain evolution
PMID: 35378129
Disease Associationsⓘ20
Blackfan-Diamond anemiaOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
X-linked sideroblastic anemia 1Open Targets
0.04Suggestive
Congenital atransferrinemiaOpen Targets
0.04Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.04Suggestive
delta-beta-thalassemiaOpen Targets
0.04Suggestive
cyanosis, transient neonatalOpen Targets
0.04Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.04Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CCDC85CShared pathway25%TMEM14CShared pathway25%TM4SF5Shared pathway25%NOTCH2NLBShared pathway20%NOTCH2NLCShared pathway20%NOTCH2NLAShared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
91%
Brain
74%
Liver
44%
Ovary
37%
Lung
31%
Gene Interaction Network
Click a node to explore
TMEM14BCCDC85CTMEM14CTM4SF5NOTCH2NLBNOTCH2NLCNOTCH2NLA
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NUH8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.55 [0.32–0.99]
RankingsWhere TMEM14B stands among ~20K protein-coding genes
  • #14,294of 20,598
    Most Researched20
  • #9,491of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedTMEM14B
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.
PMID: 36037157
PLoS One · 2022
1.00
2
Identification of potential blood biomarkers for early diagnosis of schizophrenia through RNA sequencing analysis.
PMID: 35016150
J Psychiatr Res · 2022
0.80
3
Structural and genome-wide analyses suggest that transposon-derived protein SETMAR alters transcription and splicing.
PMID: 35378129
J Biol Chem · 2022
0.60
4
The Primate-Specific Gene TMEM14B Marks Outer Radial Glia Cells and Promotes Cortical Expansion and Folding.
PMID: 29033352
Cell Stem Cell · 2017
0.40
5
A novel approach for the analysis of single-cell RNA sequencing identifies TMEM14B as a novel poor prognostic marker in hepatocellular carcinoma.
PMID: 37380717
Sci Rep · 2023
0.20