2. Gene
  3. MFSD12 - major facilitator superfamily domain containing 12 Gene

MFSD12 - major facilitator superfamily domain containing 12 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含主要促进超家族结构域 12

种属: Homo sapiens

同用名: PP3501; C19orf28

基因 ID: 126321 | 基因类型: protein coding

关于 MFSD12

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:3,538,275-3,557,586 (from NCBI)

This gene has 14 transcripts (splice variants), 228 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 23.3), skin (RPKM 11.8) and 25 other tissues.

功能概要

启用半胱氨酸跨膜转运蛋白活性。参与半胱氨酸跨膜转运；参与色素沉着的色素代谢过程；黑色素生物合成过程的调控。位于溶酶体和黑素体中。晚期内体的一部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables cysteine transmembrane transporter activity. Involved in cysteine transmembrane transport; pigment metabolic process involved in pigmentation; and regulation of melanin biosynthetic process. Located in lysosome and melanosome. Part of late endosome. [provided by Alliance of Genome Resources, Apr 2022]

MFSD12 基因产物(2)

mRNA Protein Name
NM_001287529.2 NP_001274458.1 major facilitator superfamily domain-containing protein 12 isoform d
NM_174983.5 NP_778148.2 major facilitator superfamily domain-containing protein 12 isoform c
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cysteine transmembrane transporter activity IDA
IDA: 通过直接分析推断
33208952 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cysteine transmembrane transport IDA
IDA: 通过直接分析推断
33208952 GOA
involved in pigment metabolic process involved in pigmentation IMP
IMP: 通过突变表型推断
33208952 GOA
involved in regulation of melanin biosynthetic process IMP
IMP: 通过突变表型推断
33208952 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in late endosome IDA
IDA: 通过直接分析推断
29025994 GOA
located in lysosome IDA
IDA: 通过直接分析推断
29025994 GOA
located in melanosome IDA
IDA: 通过直接分析推断
33208952 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MFSD12 蛋白结构

MFS_2

MFS_2: MFS/sugar transport protein (23 - 422)

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

major facilitator superfamily domain-containing protein 12

关联疾病

疾病名称 别名
Dermatosis Papulosa Nigra
Variola Minor

Alastrim

Cottonpox

Milkpox

Whitepox
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive

FPHH

Melanosis Universalis Hereditaria

Muh

Familial Progressive Hyperpigmentation With Or Without Hypopigmentation

Hyperpigmentation, Familial Progressive, 2, Formerly

Fph2, Formerly

Hyperpigmentation With Or Without Hypopigmentation

Familial Progressive Hyper- And Hypopigmentation

Hyperpigmentation, Familial Progressive
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08390 MFSD12 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus MFSD12 MGD MGI:3604804
Felis catus MFSD12 VGNC VGNC:63477
Rattus norvegicus MFSD12 RGD RGD:1307722
Macaca mulatta MFSD12 VGNC VGNC:74600
Bos taurus MFSD12 VGNC VGNC:58388
Canis familiaris MFSD12 VGNC VGNC:43198
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