1. Gene
  2. GCM2 - glial cells missing transcription factor 2 Gene

GCM2 - glial cells missing transcription factor 2 Gene

中文名称:神经胶质细胞缺失转录因子 2

种属: Homo sapiens

同用名: FIH2; GCMB; HRPT4; hGCMb

基因 ID: 9247 | 基因类型: protein coding

关于 GCM2

Cytogenetic location: 6p24.2 Genomic coordinates (GRCh38): 6:10,873,223-10,882,041 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues, 1 paralogue and is associated with 4 phenotypes. Low expression observed in reference dataset.

功能概要

该基因是果蝇神经胶质细胞缺失基因的同系物,被认为是神经元和神经胶质细胞决定之间的二元开关。该基因编码的蛋白质含有一个保守的 N 端 GCM 基序,该基序具有 DNA 结合活性。该蛋白质是一种转录因子,可作为甲状旁腺发育的主要调节因子。有人提出,这种转录因子可能介导钙对甲状旁腺细胞中甲状旁腺激素表达和分泌的影响。该基因的突变与甲状旁腺功能减退有关。[RefSeq 提供,2008 年 7 月]

This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]

GCM2 基因产物(1)

mRNA Protein Name
NM_004752.4 NP_004743.1 chorion-specific transcription factor GCMb
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 DNA-binding transcription factor activity, RNA polymerase II-specific IMP
IMP: 通过突变表型推断
20190276 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
15863676 GOA
enables sequence-specific DNA binding IMP
IMP: 通过突变表型推断
20190276 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intracellular calcium ion homeostasis IMP
IMP: 通过突变表型推断
15728199 GOA
involved in intracellular phosphate ion homeostasis IMP
IMP: 通过突变表型推断
15728199 GOA
involved in parathyroid gland development IMP
IMP: 通过突变表型推断
15728199 GOA
involved in transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
20190276 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
20190276 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

GCM2 蛋白结构

GCM

GCM: GCM motif protein (35 - 173)

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

chorion-specific transcription factor GCMb

GCM motif protein 2

GCM2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra GCM2 O75603 GPSM1 Homo sapiens Q86YR5-3
Y2H Array
32296183
Intra GCM2 O75603 GPSM1 Homo sapiens Q86YR5-3
Y2H Prey Pooling
32296183
Intra GCM2 O75603 GPSM1 Homo sapiens Q86YR5-3
Validated Y2H
32296183
Intra GCM2 O75603 KRTAP8-1 Homo sapiens Q8IUC2
Y2H Array
32296183
Intra GCM2 O75603 KRTAP8-1 Homo sapiens Q8IUC2
Y2H Prey Pooling
32296183
Intra GCM2 O75603 KRTAP8-1 Homo sapiens Q8IUC2
Validated Y2H
32296183
Intra GCM2 O75603 DOK3 Homo sapiens Q7L591-3
Validated Y2H
32296183
Intra GCM2 O75603 DOK3 Homo sapiens Q7L591-3
Y2H Prey Pooling
32296183
Intra GCM2 O75603 DOK3 Homo sapiens Q7L591-3
Y2H Array
32296183
Intra GCM2 O75603 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
Intra GCM2 O75603 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
Intra GCM2 O75603 KRTAP6-2 Homo sapiens Q3LI66
Validated Y2H
32296183
Intra GCM2 O75603 USP54 Homo sapiens Q70EL1-9
Validated Y2H
32296183
Intra GCM2 O75603 USP54 Homo sapiens Q70EL1-9
Y2H Array
32296183
Intra GCM2 O75603 USP54 Homo sapiens Q70EL1-9
Y2H Prey Pooling
32296183
Intra GCM2 O75603 ZMIZ2 Homo sapiens Q8NF64-3
Validated Y2H
32296183
Intra GCM2 O75603 ZMIZ2 Homo sapiens Q8NF64-3
Y2H Array
32296183
Intra GCM2 O75603 ZMIZ2 Homo sapiens Q8NF64-3
Y2H Prey Pooling
32296183
Intra GCM2 O75603 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
Intra GCM2 O75603 POU6F2 Homo sapiens P78424
Validated Y2H
32296183
Intra GCM2 O75603 POU6F2 Homo sapiens P78424
Y2H Array
32296183
Intra GCM2 O75603 LHX3 Homo sapiens Q9UBR4-2
Validated Y2H
32296183
Intra GCM2 O75603 LHX3 Homo sapiens Q9UBR4-2
Y2H Array
32296183
Intra GCM2 O75603 LHX3 Homo sapiens Q9UBR4-2
Y2H Prey Pooling
32296183
Intra GCM2 O75603 WWOX Homo sapiens Q9NZC7-5
Validated Y2H
32296183
Intra GCM2 O75603 WWOX Homo sapiens Q9NZC7-5
Y2H Prey Pooling
32296183
Intra GCM2 O75603 WWOX Homo sapiens Q9NZC7-5
Y2H Array
32296183
Intra GCM2 O75603 TBX19 Homo sapiens O60806
Y2H Prey Pooling
32296183
Intra GCM2 O75603 TBX19 Homo sapiens O60806
Y2H Array
32296183
Intra GCM2 O75603 MEOX2 Homo sapiens Q6FHY5
Validated Y2H
32296183
Intra GCM2 O75603 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra GCM2 O75603 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra GCM2 O75603 KRTAP7-1 Homo sapiens Q8IUC3
Y2H Prey Pooling
32296183
Intra GCM2 O75603 KRTAP7-1 Homo sapiens Q8IUC3
Validated Y2H
32296183
Intra GCM2 O75603 KRTAP7-1 Homo sapiens Q8IUC3
Y2H Array
32296183
Intra GCM2 O75603 GSC2 Homo sapiens O15499
Y2H Prey Pooling
32296183
Intra GCM2 O75603 GSC2 Homo sapiens O15499
Y2H Array
32296183
Intra GCM2 O75603 PAX8 Homo sapiens Q06710
Y2H Prey Pooling
32296183
Intra GCM2 O75603 PAX8 Homo sapiens Q06710
Y2H Array
32296183
Intra GCM2 O75603 PAX8 Homo sapiens Q06710
Validated Y2H
32296183
Intra GCM2 O75603 SSBP1 Homo sapiens Q04837
Y2H Array
32296183
Intra GCM2 O75603 SSBP1 Homo sapiens Q04837
Y2H Prey Pooling
32296183
Intra GCM2 O75603 TRAF1 Homo sapiens Q13077
Y2H Array
32296183
Intra GCM2 O75603 TRAF1 Homo sapiens Q13077
Y2H Prey Pooling
32296183
Intra GCM2 O75603 TRAF1 Homo sapiens Q13077
Validated Y2H
32296183
Intra GCM2 O75603 HSFY1 Homo sapiens Q96LI6
Validated Y2H
25416956
Intra GCM2 O75603 HSFY1 Homo sapiens Q96LI6
Y2H Prey Pooling
32296183
Intra GCM2 O75603 HSFY1 Homo sapiens Q96LI6
Validated Y2H
25910212
Intra GCM2 O75603 HSFY1 Homo sapiens Q96LI6
Y2H Prey Pooling
25416956
Intra GCM2 O75603 HSFY1 Homo sapiens Q96LI6
Validated Y2H
32296183
Intra GCM2 O75603 HSFY1 Homo sapiens Q96LI6
Y2H Array
25416956
Intra GCM2 O75603 HSFY1 Homo sapiens Q96LI6
Y2H Array
25910212
Intra GCM2 O75603 HSFY1 Homo sapiens Q96LI6
Y2H Array
32296183
Intra GCM2 O75603 HSFY1 Homo sapiens Q96LI6
Y2H Bait-Prey Pool
25910212
Intra GCM2 O75603 CEACAM6 Homo sapiens P40199
Y2H Prey Pooling
32296183
Intra GCM2 O75603 CEACAM6 Homo sapiens P40199
Validated Y2H
32296183
Intra GCM2 O75603 CEACAM6 Homo sapiens P40199
Y2H Array
32296183
Intra GCM2 O75603 MYOZ3 Homo sapiens Q8TDC0
Validated Y2H
32296183
Intra GCM2 O75603 MYOZ3 Homo sapiens Q8TDC0
Y2H Array
32296183
Intra GCM2 O75603 MYOZ3 Homo sapiens Q8TDC0
Y2H Prey Pooling
32296183
Intra GCM2 O75603 RUSC1 Homo sapiens Q9BVN2
Y2H Prey Pooling
32296183
Intra GCM2 O75603 RUSC1 Homo sapiens Q9BVN2
Validated Y2H
32296183
Intra GCM2 O75603 RUSC1 Homo sapiens Q9BVN2
Y2H Array
32296183
Intra GCM2 O75603 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra GCM2 O75603 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra GCM2 O75603 RBPMS Homo sapiens Q93062
Validated Y2H
25416956
Intra GCM2 O75603 RBPMS Homo sapiens Q93062-3
Validated Y2H
25910212
Intra GCM2 O75603 RBPMS Homo sapiens Q93062-3
Y2H Bait-Prey Pool
25910212
Intra GCM2 O75603 RBPMS Homo sapiens Q93062-3
Y2H Array
25910212
Intra GCM2 O75603 HOXA1 Homo sapiens P49639
Y2H Prey Pooling
32296183
Intra GCM2 O75603 HOXA1 Homo sapiens P49639
Validated Y2H
32296183
Intra GCM2 O75603 HOXA1 Homo sapiens P49639
Y2H Array
32296183
Intra GCM2 O75603 FHL3 Homo sapiens Q13643
Validated Y2H
25910212
Intra GCM2 O75603 FHL3 Homo sapiens Q13643
Y2H Bait-Prey Pool
25910212
Intra GCM2 O75603 FHL3 Homo sapiens Q13643
Y2H Array
25910212
Intra GCM2 O75603 FHL3 Homo sapiens Q13643
Validated Y2H
32296183
Intra GCM2 O75603 FHL3 Homo sapiens Q13643
Y2H Prey Pooling
32296183
Intra GCM2 O75603 FHL3 Homo sapiens Q13643
Y2H Array
32296183
Intra GCM2 O75603 FHL3 Homo sapiens Q13643
Y2H Prey Pooling
25416956
Intra GCM2 O75603 PAX6 Homo sapiens P26367
Y2H Array
32296183
Intra GCM2 O75603 PAX6 Homo sapiens P26367
Validated Y2H
32296183
Intra GCM2 O75603 PAX6 Homo sapiens P26367
Y2H Prey Pooling
32296183
Intra GCM2 O75603 CRX Homo sapiens O43186
Validated Y2H
25910212
Intra GCM2 O75603 CRX Homo sapiens O43186
Y2H Bait-Prey Pool
25910212
Intra GCM2 O75603 CRX Homo sapiens O43186
Y2H Array
25910212
Intra GCM2 O75603 CRX Homo sapiens O43186
Y2H Prey Pooling
32296183
Intra GCM2 O75603 CRX Homo sapiens O43186
Y2H Array
32296183
Intra GCM2 O75603 LASP1 Homo sapiens Q14847-2
Validated Y2H
32296183
Intra GCM2 O75603 LASP1 Homo sapiens Q14847-2
Y2H Array
32296183
Intra GCM2 O75603 LASP1 Homo sapiens Q14847-2
Y2H Prey Pooling
32296183
Intra GCM2 O75603 JMJD7 Homo sapiens P0C870
Validated Y2H
32296183
Intra GCM2 O75603 JMJD7 Homo sapiens P0C870
Y2H Array
32296183
Intra GCM2 O75603 JMJD7 Homo sapiens P0C870
Y2H Prey Pooling
32296183
Intra GCM2 O75603 ECM1 Homo sapiens Q16610
Y2H Prey Pooling
32296183
Intra GCM2 O75603 ECM1 Homo sapiens Q16610
Validated Y2H
32296183
Intra GCM2 O75603 ECM1 Homo sapiens Q16610
Y2H Array
32296183
Intra GCM2 O75603 PLEKHG4 Homo sapiens Q58EX7
Validated Y2H
32296183
Intra GCM2 O75603 PLEKHG4 Homo sapiens Q58EX7
Y2H Array
32296183
Intra GCM2 O75603 PLEKHG4 Homo sapiens Q58EX7
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Hypoparathyroidism, Familial Isolated, 2

FIH2

Hypoparathyroidism, Familial Isolated 2

Hyperparathyroidism 4

HRPT4

Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Familial Isolated Hypoparathyroidism

Fih

Hyperparathyroidism 1

Familial Isolated Hyperparathyroidism

Fihp

HRPT1

Hyperparathyroidism, Familial Isolated Primary

Hyperparathyroidism, Familial Primary

Familial Primary Hyperparathyroidism

Fihpt

Hyperparathyroidism, Familial, Isolated, Primary

Hyperparathyroidism 3

Parathyroid Adenoma, Familial

Hypoparathyroidism

Hypoparathyroidism, Idiopathic

Parathyroid, Underactivity Of

Syndrome With Hypoparathyroidism

Deficiency Of Parathyroid Hormone

Parathyroid Gland Insufficiency

Parathyroid Insufficiency

Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Primary Hyperparathyroidism

Familial Primary Hyperparathyroidism

Hyperparathyroidism, Primary

Hyperparathyroidism Primary

Hypocalciuric Hypercalcemia, Familial, Type 1

Familial Benign Hypercalcemia

Familial Hyperparathyroidism

Parathyroid Enlargement

Hyperparathyroidism

Hyperparathyroidism And Other Disorders Of Parathyroid Gland

Parathyroid Hyperfunction

Hpth - [Hyperparathyroidism]

Parathyroid Gland Hyperfunction

Parathyroid Glandular Hyperfunction

Hypocalcemia, Autosomal Dominant 1

Autosomal Dominant Hypocalcemia

Autosomal Dominant Hypocalcemia 1

HYPOC1

Hypocalcemia, Autosomal Dominant

Hypercalciuric Hypocalcemia

Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

Familial Hypocalcemia

Hypocalcemia, Familial

Hypoc

Adh

Autosomal Dominant Hypoparathyroidism

Familial Hypercalciuric Hypocalcemia

Ad Hypocalcemia

Autosomal Dominant Hypocalcemia With Bartter Syndrome

Hypoparathyroidism - Autosomal Dominant

Hypocalcemia

Ectopic Thymus
Hyperphosphatemia
Hypoparathyroidism-Deafness-Renal Disease Syndrome

Barakat Syndrome

Hypoparathyroidism, Deafness, Renal Disease Syndrome

Hdr Syndrome

Hypoparathyroidism, Sensorineural Deafness, And Renal Disease

Kenny-Caffey Syndrome

Kenny Syndrome

Familial Hypocalciuric Hypercalcemia

Familial Benign Hypercalcemia

Fbh

Fbhh

Fhh

Familial Benign Hypocalciuric Hypercalcemia

Hypocalciuric Hypercalcemia, Familial, Type 1

Hypocalciuric Hypercalcemia, Familial, Type Ii

HHC2

Familial Hypocalciuric Hypercalcemia 2

Fbh2

Familial Hypocalciuric Hypercalcemia Type 2

Hypocalciuric Hypercalcemia, Type Ii

Fhh Type 2

Familial Benign Hypercalcemia, Type Ii

Hypercalcemia, Familial Benign, Type Ii

Hypocalciuric Hypercalcemia Type Ii

Familial Benign Hypercalcemia, Type 2

Hypercalcemia, Familial Benign Type 2

Hypocalciuric Hypercalcemia, Familial, Type 2

Hypocalciuric Hypercalcemia, Familial 2

Familial Benign Hypercalcemia Type Ii

Hypocalciuric Hypercalcemia-2

Microphthalmia, Syndromic 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome

MCOPS13

Maine Microphthalmos

Colobomatous Microphthalmia With Microcephaly, Short Stature, And Psychomotor Retardation

Syndromic Microphthalmia 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome

Microphthalmia, Syndromic, 13

Microphthalmia, Syndromic, Type 13

Parathyroid Gland Disease

Parathyroid Diseases

Disease Of Parathyroid Glands

Parathyroid Disease

Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Sanjad-Sakati Syndrome

Hrd Syndrome

HRDS

Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome

Richardson-Kirk Syndrome

Sss

Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures

Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay

Hypoparathyroidism With Short Stature, Mental Retardation And Seizures

Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures

Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay

Eiken Syndrome

Eiken Skeletal Dysplasia

Bone Modeling Defect Of Hands And Feet

EKNS

Testicular Thecoma
Chief Cell Adenoma

Chief Cell Adenoma Of Parathyroid Gland

Hypocalciuric Hypercalcemia, Familial, Type Iii

HHC3

Familial Hypocalciuric Hypercalcemia 3

Fbh3

Familial Hypocalciuric Hypercalcemia Type 3

Hypercalcemia, Familial Benign, Oklahoma Type

Hypocalciuric Hypercalcemia, Type Iii

Fhh Type 3

Hypocalciuric Hypercalcemia Type Iii

Familial Benign Hypercalcemia, Type Iii

Hypercalcemia, Familial Benign, Type Iii

Fbhok

Familial Benign Hypercalcemia, Oklahoma Variant

Familial Benign Hypercalcemia, Type 3

Hypercalcemia, Familial Benign, Type 3

Hypocalciuric Hypercalcemia, Familial, Type 3

Hypocalciuric Hypercalcemia, Familial 3

Familial Benign Hypercalcemia 3

Familial Benign Hypercalcemia Oklahoma Type

Familial Benign Hypocalciuric Hypercalcemia 3

Fbhh3

Fhh3

Parathyroid Carcinoma

Parathyroid Cancer

Parathyroid Neoplasms

Malignant Tumor Of Parathyroid Gland

PRTC

Carcinoma Of Parathyroid Gland

Malignant Neoplasm Of Parathyroid Gland

Parathyroid Gland Adenocarcinoma

Parathyroid Gland Cancer

Parathyroid Neoplasm

Parathyroid Gland Carcinoma

Malignant Neoplasm Of The Parathyroid

Neoplasm Of Parathyroid Gland

Parathyroid Gland Neoplasm

Cancer Of The Parathyroid

Cancer Of The Parathyroid Gland

Malignant Neoplasm Of Parathyroid

Malignant Parathyroid Gland Neoplasm

Malignant Parathyroid Gland Tumor

Malignant Parathyroid Neoplasm

Malignant Parathyroid Tumor

Malignant Tumor Of Parathyroid

Parathyroid Adenocarcinoma

Neoplasm Of The Parathyroid Gland

Carcinoma, Parathyroid

Parathyroid Adenoma

Adenoma Of Parathyroid

Adenoma Of The Parathyroid Gland

Parathyroid Gland Adenoma

Metaphyseal Chondrodysplasia, Jansen Type

Metaphyseal Chondrodysplasia, Murk Jansen Type

Jansen'S Metaphyseal Chondrodysplasia

MCDJ

Murk Jansen Type Metaphyseal Chondrodysplasia

Jansen Type Metaphyseal Chondrodysplasia

Jansen Disease

Jansen Metaphyseal Chondrodysplasia

Jansen Metaphyseal Dysostosis

Metaphyseal Chondrodysplasia Murk Jansen Type

Chondrodysplasia, Metaphyseal, Murk Jansen Type

Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders

Disorder Of Phosphorus Metabolism

Phosphorus Disorder

Phosphorus Metabolism Disorder

Mitochondrial Trifunctional Protein Deficiency

Tfp Deficiency

MTPD

Trifunctional Protein Deficiency

Trifunctional Protein Deficiency With Myopathy And Neuropathy

Tfpd

Familial Hypertrophic Cardiomyopathy

Cardiomyopathy Familial Hypertrophic

Familial Hcm

Heritable Hypertrophic Cardiomyopathy

Mtp Deficiency

Tpa Deficiency

Trifunctional Protein Deficiency, Type 2

Abetalipoproteinemia

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

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 GCM2 RGD RGD:1311127
Felis catus GCM2 VGNC VGNC:62495
Canis familiaris GCM2 VGNC VGNC:41150
Macaca mulatta GCM2 VGNC VGNC:72904
Mus musculus GCM2 MGD MGI:1861438
Bos taurus GCM2 VGNC VGNC:53970