MDFIC - MyoD family inhibitor domain containing Gene

Homo sapiens

Also known as HIC; MDFIC1; LMPHM12

Gene ID: 29969 | Gene type: protein coding

About MDFIC

Cytogenetic location: 7q31.1-q31.2 Genomic coordinates (GRCh38): 7:114,922,094-115,019,917 (from NCBI)

This gene has 6 transcripts (splice variants), 200 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 25.2), spleen (RPKM 14.3) and 23 other tissues.

Summary

This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

MDFIC Products(3)

mRNA	Protein	Name
NM_001166345.3	NP_001159817.1	myoD family inhibitor domain-containing protein isoform p32
NM_001166346.1	NP_001159818.3	myoD family inhibitor domain-containing protein isoform c
NM_199072.5	NP_951038.1	myoD family inhibitor domain-containing protein isoform p40

MDFIC Protein Structure

MDFI

0
100
200
246 a.a.

Protein Preferred Names

Protein Names

myoD family inhibitor domain-containing protein

I-mfa domain-containing protein

Related Diseases

Diseases

Alias

Lymphatic Malformation 12

Central Conducting Lymphatic Anomaly	LMPHM12
Ccla	Lymphatic Malformation-7
Doid:0081030

Hypogonadotropic Hypogonadism 16 With Or Without Anosmia

HH16	Hypogonadism, Hypogonadotropic, Type 16 With/Without Anosmia

Epiglottitis

Acute Epiglottitis	Acute Epiglottitis And Supraglottitis
Acute Epiglottiditis	Epiglottiditis
Epiglottitis Nos

Cleft Palate, Cardiac Defects, And Mental Retardation

Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies	CPCMR
Cleft Palate, Cardiac Defects, And Intellectual Disabillity	Cleft Palate, Cardiac Defects, And Intellectual Disability
Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies

Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract	HLD5
Hypomyelination-Congenital Cataract Syndrome	Hypomyelinating Leukodystrophy 5
Hcc	Hypomyelination And Congenital Cataract: Hcc
Hypomyelination - Congenital Cataract	Hypomyelination With Congenital Cataract

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia	Acute T Cell Leukemia
Precursor T Lymphoblastic Leukemia	Precursor T-Lymphoblastic Lymphoma/Leukemia
T Acute Lymphoblastic Leukemia	T-Cell Acute Lymphocytic Leukaemia
T-Cell Lymphoblastic Leukemia/Lymphoma	Leukemia T-Cell
Leukemia, T-Cell	Leukemia, Acute, Lymphoblastic, T-Cell
Leukemia, T-Cell Acute Lymphoblastic	Leukemia, Acute T-Cell
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Precursor T-Cell Lymphoblastic Lymphoma
Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08257	MDFIC Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MDFIC	VGNC	VGNC:31330
Canis familiaris	MDFIC	VGNC	VGNC:43100
Mus musculus	MDFIC	MGD	MGI:104611
Felis catus	MDFIC	VGNC	VGNC:102635
Macaca mulatta	MDFIC	VGNC	VGNC:74608
Rattus norvegicus	MDFIC	RGD	RGD:1309532

Name
Email *

	Sorry, but the email address you supplied was invalid.