1. Gene
  2. MAFB - MAF bZIP transcription factor B Gene

MAFB - MAF bZIP transcription factor B Gene

Homo sapiens

Also known as KRML; MCTO; DURS3

Gene ID: 9935 | Gene type: protein coding

About MAFB

Cytogenetic location: 20q12 Genomic coordinates (GRCh38): 20:40,685,848-40,689,236 (from NCBI)

This gene has 1 transcript (splice variant), 245 orthologues, 6 paralogues and is associated with 52 phenotypes.

Summary

The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]

MAFB Products(1)

mRNA Protein Name
NM_005461.5 NP_005452.2 transcription factor MafB

MAFB Protein Structure

Maf_N

Maf_N: Maf N-terminal region (80 - 114)

bZIP_Maf

bZIP_Maf: bZIP Maf transcription factor (211 - 301)

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  • 323 a.a.
Protein Preferred Names Protein Names

transcription factor MafB

Kreisler maf-related leucine zipper homolog

Related Diseases

Diseases Alias
Multicentric Carpotarsal Osteolysis Syndrome

Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy

MCTO

Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy

Idiopathic Multicentric Osteolysis With Or Without Nephropathy

Autosomal Dominant Multicentric Osteolysis

Hereditary Osteolysis Of Carpal Bones With Or Without Nephropathy

Multicentric Osteolysis, Autosomal Dominant

Multicentric Osteolysis Nephropathy

Osteolysis, Carpotarsal, Multicentric Syndrome

Lytic Lesion

Duane Retraction Syndrome 3 With Or Without Deafness

DURS3

Duane Retraction Syndrome 3

Duane Retraction Syndrome With Congenital Deafness

Drs With Deafness

Drs With Hearing Loss

Durs With Deafness

Durs With Hearing Loss

Duane Retraction Syndrome With Congenital Hearing Loss

Duane Retraction Syndrome 2

DURS2

Duane Retraction Syndrome, Type 2

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs

Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Juvenile Rheumatoid Arthritis

Juvenile Idiopathic Arthritis

Juvenile Chronic Polyarthritis

Monarticular Juvenile Rheumatoid Arthritis

Pauciarticular Juvenile Arthritis

Still'S Disease

Systemic Juvenile Rheumatoid Arthritis

Juvenile Chronic Arthritis

Acute Juvenile Rheumatoid Arthritis

Pauciarticular Onset Juvenile Chronic Arthritis

Arthritis, Juvenile Rheumatoid

Jia

Jra

Juvenile Ra

Arthritis Juvenile Rheumatoid

Stills Disease

Juvenile Arthritis

Acute Polyarticular Juvenile Rheumatoid Arthritis

Pauciarticular Juvenile Rheumatoid Arthritis

Rheumatoid Arthritis, Systemic Juvenile

Amblyopia

Lazy Eye

Monoclonal Gammopathy Of Uncertain Significance

Monoclonal Gammopathy Of Undetermined Significance

Mgus

Mgus - [Monoclonal Gammopathy Of Undetermined Significance]

Monoclonal Gammopathy Nos

Iga Gammopathy

Monoclonal Gammoglobulinopathy

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Smoldering Myeloma
Blood Protein Disease

Blood Protein Disorders

Blood Protein Disorder

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Plasma Cell Leukemia

Plasma Cell Leukaemia

Leukemia, Plasma Cell

Plasmacytic Leukaemia

Plasmacytic Leukemia

Pcl

Plasma Cell Leukaemia, Nos

Leukemic Plasma Cell

Plasma Cell Leukaemia Without Mention Of Remission

Theileriasis

Theileriosis

Infection By Theileria

Pancreatic Agenesis

Partial Pancreatic Agenesis

Congenital Pancreatic Agenesis

Partial Agenesis Of The Pancreas

Agenesis, Pancreatic

Pancreatic Agenesis, Congenital

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Orofacial Cleft

Cleft, Orofacial

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

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 MAFB VGNC VGNC:67982
Canis familiaris MAFB VGNC VGNC:54653
Macaca mulatta MAFB VGNC VGNC:74419
Bos taurus MAFB VGNC VGNC:31139
Rattus norvegicus MAFB RGD RGD:2982
Mus musculus MAFB MGD MGI:104555