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  2. DTHD1 - death domain containing 1 Gene

DTHD1 - death domain containing 1 Gene

中文名称:含死亡域 1

种属: Homo sapiens

基因 ID: 401124 | 基因类型: protein coding

关于 DTHD1

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:36,281,616-36,347,511 (from NCBI)

This gene has 6 transcripts (splice variants), 166 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in lung (RPKM 2.2), lymph node (RPKM 1.8) and 11 other tissues.

功能概要

该基因编码一种包含死亡域的蛋白质。含有死亡结构域的蛋白质在信号通路和信号复合物的形成以及细胞凋亡通路中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 10 月]

This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the Apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

DTHD1 基因产物(3)

mRNA Protein Name
NM_001136536.5 NP_001130008.2 death domain-containing protein 1 isoform 2
NM_001170700.3 NP_001164171.2 death domain-containing protein 1 isoform 1
NM_001378435.1 NP_001365364.1 death domain-containing protein 1 isoform 3

DTHD1 蛋白结构

Death

Death: Death domain (680 - 761)

  • 0
  • 200
  • 400
  • 600
  • 781 a.a.
蛋白主名 其他名称

death domain-containing protein 1

关联疾病

疾病名称 别名
Occult Macular Dystrophy

OCMD

Omd

Dystrophy, Macular, Occult

Ocular Hyperemia

Hyperemia Eye

Hyperemia Of Conjunctiva

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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 DTHD1 RGD RGD:2323176
Canis familiaris DTHD1 VGNC VGNC:40112
Felis catus DTHD1 VGNC VGNC:78483
Bos taurus DTHD1 VGNC VGNC:28229
Macaca mulatta DTHD1 VGNC VGNC:100220
Mus musculus DTHD1 MGD MGI:4937018