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  2. EOMES - eomesodermin Gene

EOMES - eomesodermin Gene

Homo sapiens

Also known as TBR2

Gene ID: 8320 | Gene type: protein coding

About EOMES

Cytogenetic location: 3p24.1 Genomic coordinates (GRCh38): 3:27,715,953-27,722,713 (from NCBI)

This gene has 3 transcripts (splice variants), 299 orthologues, 16 paralogues and is associated with 2 phenotypes. Biased expression in lymph node (RPKM 5.9), spleen (RPKM 5.3) and 10 other tissues.

Summary

This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

EOMES Products(3)

mRNA Protein Name
NM_001278182.2 NP_001265111.1 eomesodermin homolog isoform 1
NM_001278183.2 NP_001265112.1 eomesodermin homolog isoform 3
NM_005442.4 NP_005433.2 eomesodermin homolog isoform 2

EOMES Protein Structure

T-box

T-box: T-box (269 - 457)

  • 0
  • 200
  • 400
  • 600
  • 686 a.a.
Protein Preferred Names Protein Names

eomesodermin homolog

T-box brain protein 2

Related Diseases

Diseases Alias
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Bilateral Polymicrogyria
Polymicrogyria

Pmg

Type 1 Diabetes Mellitus 21

Diabetes Mellitus, Insulin-Dependent, 21

Iddm21

T1D21

Insulin-Dependent Diabetes Mellitus 21

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria

Polymicrogyria, Bilateral Perisylvian

Pmgx

Perisylvian Syndrome, Congenital Bilateral

Cbps

Congenital Bilateral Perisylvian Syndrome

Perisylvian Syndrome

BPPX

Bpp

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus EOMES VGNC VGNC:61888
Bos taurus EOMES VGNC VGNC:28516
Macaca mulatta EOMES VGNC VGNC:110368
Rattus norvegicus EOMES RGD RGD:1359706
Mus musculus EOMES MGD MGI:1201683
Canis familiaris EOMES VGNC VGNC:40389