1. Gene
  2. DACH2 - dachshund family transcription factor 2 Gene

DACH2 - dachshund family transcription factor 2 Gene

中文名称:腊肠犬家族转录因子 2

种属: Homo sapiens

基因 ID: 117154 | 基因类型: protein coding

关于 DACH2

Cytogenetic location: Xq21.2 Genomic coordinates (GRCh38): X:86,148,451-86,832,602 (from NCBI)

This gene has 7 transcripts (splice variants), 257 orthologues and 1 paralogue. Biased expression in brain (RPKM 3.6) and kidney (RPKM 0.3).

功能概要

该基因是编码一种类似于果蝇蛋白质腊肠的蛋白质的两个基因之一,一种转录因子参与果蝇眼睛、四肢和生殖盘细胞命运决定。编码的蛋白质包含两个特征性的腊肠结构域:负责 DNA 结合的 N 末端结构域和负责蛋白质-蛋白质相互作用的 C 末端结构域。该基因位于 X 染色体上,会因 DNA 甲基化而失活。编码的蛋白质可能参与器官发生和肌细胞发生的调节,并可能在卵巢早衰中发挥作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 11 月]

This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

DACH2 基因产物(3)

mRNA Protein Name
NM_001139514.1 NP_001132986.1 dachshund homolog 2 isoform b
NM_001139515.1 NP_001132987.1 dachshund homolog 2 isoform c
NM_053281.3 NP_444511.1 dachshund homolog 2 isoform a

DACH2 蛋白结构

Ski_Sno

Ski_Sno: SKI/SNO/DAC family (38 - 162)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 599 a.a.
蛋白主名 其他名称

dachshund homolog 2

关联疾病

疾病名称 别名
Enterobiasis

Oxyuriasis

Pinworm Infection

Enterobius Vermicularis Infection

Threadworm Infection

Oxyuris Vermicularis Infection

Enterobiosis

Pinworm

Pinworm Disease

Seatworm Infection

Enterobiasis Threadworm

Pinworm Infestation

Seatworm

Miles-Carpenter Syndrome

X-Linked Intellectual Disability, Miles-Carpenter Type

Mcs

Mental Retardation, X-Linked, Syndromic 4

Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches

Mrxs4

Miles-Carpenter X-Linked Mental Retardation Syndrome

Mullerian Aplasia And Hyperandrogenism

Mullerian Duct Failure And Hyperandrogenism

Wnt4 Deficiency

Müllerian Aplasia And Hyperandrogenism

Biason-Lauber Syndrome

Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome

Mayer-Rokitansky-Küster-Hauser-Like Syndrome

Müllerian Duct Failure

Wnt4 Müllerian Aplasia

Wnt4 Müllerian Aplasia And Ovarian Dysfunction

MULLAPL

Wnt4 Mullerian Aplasia And Ovarian Dysfunction

Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome

DFNX7

X-Linked Deafness 7

Deafness, X-Linked, 7

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DACH2 RGD RGD:1561687
Mus musculus DACH2 MGD MGI:1890446
Canis familiaris DACH2 VGNC VGNC:54131
Macaca mulatta DACH2 VGNC VGNC:71635
Bos taurus DACH2 VGNC VGNC:106705