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  2. SLC6A14 - solute carrier family 6 member 14 Gene

SLC6A14 - solute carrier family 6 member 14 Gene

中文名称:溶质载体家族 6 成员 14

种属: Homo sapiens

同用名: BMIQ11

基因 ID: 11254 | 基因类型: protein coding

关于 SLC6A14

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:116,436,606-116,461,458 (from NCBI)

This gene has 2 transcripts (splice variants), 30 orthologues, 19 paralogues and is associated with 1 phenotype. Biased expression in lung (RPKM 8.9), salivary gland (RPKM 4.7) and 7 other tissues.

功能概要

该基因编码溶质载体家族 6 的成员。该家族的成员是钠和氯依赖性神经递质转运体。编码的蛋白质运输中性和阳离子氨基酸。这种蛋白质也可以作为 β-丙氨酸载体发挥作用。该基因的突变可能与 X 连锁肥胖有关。在 X 染色体上发现了该基因的假基因。[RefSeq 提供,2010 年 5 月]

This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic Amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]

SLC6A14 基因产物(1)

mRNA Protein Name
NM_007231.5 NP_009162.1 sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)

SLC6A14 蛋白结构

SNF

SNF: Sodium:neurotransmitter symporter family (36 - 587)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 642 a.a.
蛋白主名 其他名称

sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)

amino acid transporter ATB0+

关联疾病

疾病名称 别名
Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Ileus

Ileus Of Intestine

Hartnup Disorder

Hartnup Disease

HND

Neutral 1 Amino Acid Transport Defect

Neutral Amino Acid Transport Defect

Deficiency Of Tryptophan Oxygenase

Hartnup'S Disease

Aminoaciduria, Hartnup Type

Disorder Of Neutral Amino Acid Transport

Estrogen-Receptor Positive Breast Cancer
Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome

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
Mus musculus SLC6A14 MGD MGI:1890216
Rattus norvegicus SLC6A14 RGD RGD:1561810
Bos taurus SLC6A14 VGNC VGNC:34917
Macaca mulatta SLC6A14 VGNC VGNC:77617
Canis familiaris SLC6A14 VGNC VGNC:46457