Tissue expression of MBD5 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	MBD5
Gene description	Methyl-CpG binding domain protein 5
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Mixed
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	MBD5 (HGNC Symbol)
Synonyms	FLJ11113, KIAA1461
Description	Methyl-CpG binding domain protein 5 (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause mental retardation autosomal dominant type 1. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Mar 2010]
Chromosome	2
Cytoband	q23.1
Chromosome location (bp)	148021011 - 148516971
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000204406 (version 83.38)
Entrez gene	55777
UniProt	Q9P267 (UniProt - Evidence at protein level)
neXtProt	NX_Q9P267
Antibodypedia	MBD5 antibodies

PROTEIN BROWSER

MBD5-001	MBD5-004	MBD5-005	MBD5-012	MBD5-014

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MBD5-001 ENSP00000386049 ENST00000407073	Q9P267 [Direct mapping] Methyl-CpG-binding domain protein 5 Show all	Predicted intracellular proteins Disease related genes Show all	GO:0002230 [positive regulation of defense response to virus by host] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0005634 [nucleus] GO:0007399 [nervous system development] GO:0010369 [chromocenter] GO:0040014 [regulation of multicellular organism growth] GO:0042593 [glucose homeostasis] GO:0044708 [single-organism behavior] GO:0060399 [positive regulation of growth hormone receptor signaling pathway] GO:0070062 [extracellular exosome] GO:0098779 [mitophagy in response to mitochondrial depolarization] Show all	1494 aa 159.9 kDa	No	0
MBD5-004 ENSP00000384672 ENST00000404807	E9PHH0 [Direct mapping] Methyl-CpG-binding domain protein 5 Show all	Predicted intracellular proteins Show all	GO:0003677 [DNA binding] GO:0005634 [nucleus] Show all	1727 aa 183.7 kDa	No	0
MBD5-005 ENSP00000393168 ENST00000416015	H7C066 [Direct mapping] Methyl-CpG-binding domain protein 5 Show all	Predicted intracellular proteins Show all		1064 aa 111.7 kDa	No	0
MBD5-012 ENSP00000486370 ENST00000627651	Q9P267 [Direct mapping] Methyl-CpG-binding domain protein 5 Show all	Predicted intracellular proteins Disease related genes Show all	GO:0002230 [positive regulation of defense response to virus by host] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0005634 [nucleus] GO:0007399 [nervous system development] GO:0010369 [chromocenter] GO:0040014 [regulation of multicellular organism growth] GO:0042593 [glucose homeostasis] GO:0044708 [single-organism behavior] GO:0060399 [positive regulation of growth hormone receptor signaling pathway] GO:0070062 [extracellular exosome] GO:0098779 [mitophagy in response to mitochondrial depolarization] Show all	851 aa 89.4 kDa	No	0
MBD5-014 ENSP00000485889 ENST00000630352	A0A0D9SEP6 [Direct mapping] Methyl-CpG-binding domain protein 5 Show all	Predicted intracellular proteins Show all		77 aa 8.8 kDa	No	0