DPF2 - double PHD fingers 2 Gene

Homo sapiens

Also known as REQ; CSS7; UBID4; ubi-d4; SMARCG2

Gene ID: 5977 | Gene type: protein coding

About DPF2

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,333,852-65,354,262 (from NCBI)

This gene has 18 transcripts (splice variants), 227 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 23.7), ovary (RPKM 23.0) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited Cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]

DPF2 Products(2)

mRNA	Protein	Name
NM_001330308.2	NP_001317237.1	zinc finger protein ubi-d4 isoform 2
NM_006268.5	NP_006259.1	zinc finger protein ubi-d4 isoform 1

DPF2 Protein Structure

Requiem_N

PHD

0
100
200
300
391 a.a.

Protein Preferred Names

Protein Names

zinc finger protein ubi-d4

BAF45D

Related Diseases

Diseases

Alias

Coffin-Siris Syndrome 7

CSS7	Coffin-Siris Syndrome, Type 7

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Multiple Endocrine Neoplasia

Men	Multiple Endocrine Adenomatosis
Multiple Endocrine Neoplasia Syndrome	Adenomatosis, Familial Endocrine
Endocrine Neoplasia, Multiple	Familial Endocrine Adenomatosis
Mea	Multiple Endocrine Neoplasms
Multiple Endocrine Neoplasia Type 1

Flinders Island Spotted Fever

Fisf	Thai Tick Typhus

Hypertrichosis

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation	Autosomal Dominant Non-Syndromic Mental Retardation
Autosomal Dominant Non-Syndromic Intellectual Disability	Mental Retardation, Autosomal Dominant

Clark-Baraitser Syndrome

CLABARS	Baraitser Syndrome
Autosomal Dominant Intellectual Disability 49	Mental Retardation, Autosomal Dominant 49, Formerly
Mrd49, Formerly	Intellectual Developmental Disorder, Autosomal Dominant 49
Autosomal Dominant Mental Retardation 49	Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
Mrd49	Progeria Short Stature Pigmented Nevi

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1	MEN1
Wermer Syndrome	Multiple Endocrine Neoplasia 1
Multiple Endocrine Neoplasia, Type 1	Men I
Endocrine Adenomatosis, Multiple	Mea I
Men Type I	Wermer'S Syndrome
Men1 Syndrome	Multiple Endocrine Adenomatosis
Endocrine Adenomatosis Multiple	Men 1
Familial Multiple Endocrine Neoplasia Type I	Neoplasia, Endocrine, Multiple, Type 1
Multiple Endocrine Neoplasia

Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome	Brws
Cerebro-Frontofacial Syndrome, Type 3	Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability	Trigonocephaly Ptosis Coloboma
Trigonocephaly Ptosis Intellectual Disability	Cerebrofrontofacial Syndrome Type 3

Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome	6q25 Microdeletion Syndrome
Monosomy 6q25	Del(6)(Q25)

Neurilemmomatosis

Schwannomatosis	Neurofibromatosis Type 3
Nf3	Neurilemmomatosis Congenital Cutaneous
Neurinomatosis	Congenital Cutaneous Neurilemmomatosis
Multiple Neurilemmomas	Multiple Schwannomas
Neurilemmomatosis, Congenital Cutaneous	Schwannomatosis 1
Neurofibromatosis 3	Mixed Central And Peripheral Neurofibromatosis
Nf3 - [Neurofibromatosis Type 3]

Kbg Syndrome

KBGS	Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies	Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome	Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03950	DPF2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DPF2	VGNC	VGNC:40066
Macaca mulatta	DPF2	VGNC	VGNC:72034
Bos taurus	DPF2	VGNC	VGNC:28176
Rattus norvegicus	DPF2	RGD	RGD:1311699
Felis catus	DPF2	VGNC	VGNC:69290
Mus musculus	DPF2	MGD	MGI:109529